Incidental Mutation 'R2060:Utp20'
| ID |
228637 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Utp20
|
| Ensembl Gene |
ENSMUSG00000004356 |
| Gene Name |
UTP20 small subunit processome component |
| Synonyms |
DRIM, 3830408P06Rik, mDRIM |
| MMRRC Submission |
040065-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R2060 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
88582469-88662666 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 88610657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1442
(D1442E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004470
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004470]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004470
AA Change: D1442E
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000004470
Gene: ENSMUSG00000004356
AA Change: D1442E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
244 |
255 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
581 |
N/A |
INTRINSIC |
|
low complexity region
|
695 |
704 |
N/A |
INTRINSIC |
|
Pfam:DRIM
|
910 |
1534 |
2.6e-176 |
PFAM |
|
low complexity region
|
1585 |
1598 |
N/A |
INTRINSIC |
|
low complexity region
|
1705 |
1719 |
N/A |
INTRINSIC |
|
low complexity region
|
2503 |
2513 |
N/A |
INTRINSIC |
|
low complexity region
|
2589 |
2605 |
N/A |
INTRINSIC |
|
low complexity region
|
2727 |
2737 |
N/A |
INTRINSIC |
|
low complexity region
|
2746 |
2764 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219662
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220275
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] UTP20 is a component of the U3 small nucleolar RNA (snoRNA) (SNORD3A; MIM 180710) protein complex (U3 snoRNP) and is involved in 18S rRNA processing (Wang et al., 2007 [PubMed 17498821]).[supplied by OMIM, Jun 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 129 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
G |
A |
7: 119,826,741 (GRCm39) |
W462* |
probably null |
Het |
| Aftph |
A |
T |
11: 20,642,571 (GRCm39) |
Y821N |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,985,405 (GRCm39) |
M2230L |
probably benign |
Het |
| Arfgap1 |
T |
C |
2: 180,614,575 (GRCm39) |
F144L |
probably benign |
Het |
| Arid4b |
C |
T |
13: 14,370,037 (GRCm39) |
R1178C |
probably damaging |
Het |
| Asb8 |
A |
T |
15: 98,039,254 (GRCm39) |
C49S |
possibly damaging |
Het |
| Baz1b |
A |
G |
5: 135,233,968 (GRCm39) |
N165S |
probably damaging |
Het |
| Bod1l |
A |
T |
5: 41,966,085 (GRCm39) |
I2660N |
possibly damaging |
Het |
| C2cd3 |
T |
C |
7: 100,104,155 (GRCm39) |
I825T |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,955,075 (GRCm39) |
W804R |
probably damaging |
Het |
| Cadm3 |
A |
T |
1: 173,171,969 (GRCm39) |
D201E |
probably damaging |
Het |
| Cdh17 |
T |
C |
4: 11,803,982 (GRCm39) |
F552L |
probably benign |
Het |
| Cdh20 |
G |
C |
1: 109,976,607 (GRCm39) |
A91P |
probably damaging |
Het |
| Cela1 |
A |
G |
15: 100,573,203 (GRCm39) |
|
probably null |
Het |
| Clk3 |
T |
C |
9: 57,658,400 (GRCm39) |
Y582C |
probably damaging |
Het |
| Cma1 |
C |
T |
14: 56,181,155 (GRCm39) |
|
probably null |
Het |
| Ctcfl |
A |
G |
2: 172,960,299 (GRCm39) |
S95P |
probably benign |
Het |
| Cylc1 |
C |
A |
X: 110,166,892 (GRCm39) |
T391K |
unknown |
Het |
| Cyp3a11 |
T |
A |
5: 145,791,891 (GRCm39) |
I501L |
probably benign |
Het |
| Cyp3a59 |
T |
A |
5: 146,041,524 (GRCm39) |
L356Q |
probably damaging |
Het |
| Dcdc2a |
A |
C |
13: 25,291,693 (GRCm39) |
D226A |
possibly damaging |
Het |
| Depp1 |
G |
A |
6: 116,628,683 (GRCm39) |
V9M |
possibly damaging |
Het |
| Dlec1 |
A |
C |
9: 118,941,154 (GRCm39) |
T235P |
probably damaging |
Het |
| Dnaaf1 |
G |
A |
8: 120,317,341 (GRCm39) |
R290Q |
probably benign |
Het |
| Dnaaf5 |
C |
T |
5: 139,163,758 (GRCm39) |
R377W |
probably damaging |
Het |
| Dpep1 |
T |
A |
8: 123,927,130 (GRCm39) |
V293E |
probably damaging |
Het |
| Drosha |
T |
A |
15: 12,924,245 (GRCm39) |
V1209E |
possibly damaging |
Het |
| Dync2h1 |
T |
G |
9: 7,162,802 (GRCm39) |
I596L |
possibly damaging |
Het |
| Edem1 |
T |
A |
6: 108,831,248 (GRCm39) |
Y570N |
probably damaging |
Het |
| Edrf1 |
G |
T |
7: 133,258,858 (GRCm39) |
E9* |
probably null |
Het |
| Enpep |
T |
A |
3: 129,074,172 (GRCm39) |
N792Y |
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,739,110 (GRCm39) |
M391K |
probably damaging |
Het |
| Fanca |
A |
C |
8: 124,001,220 (GRCm39) |
V1105G |
probably damaging |
Het |
| Fbxo22 |
T |
A |
9: 55,125,667 (GRCm39) |
L74I |
probably damaging |
Het |
| Fchsd2 |
T |
A |
7: 100,926,624 (GRCm39) |
F571L |
probably benign |
Het |
| Fhad1 |
T |
C |
4: 141,626,560 (GRCm39) |
D1345G |
probably benign |
Het |
| G2e3 |
T |
C |
12: 51,419,389 (GRCm39) |
F702L |
probably damaging |
Het |
| Glce |
A |
T |
9: 61,968,228 (GRCm39) |
S308T |
possibly damaging |
Het |
| Glt1d1 |
A |
G |
5: 127,734,183 (GRCm39) |
D119G |
probably benign |
Het |
| Gpr137c |
T |
C |
14: 45,481,616 (GRCm39) |
I144T |
probably damaging |
Het |
| Gprin3 |
A |
G |
6: 59,331,504 (GRCm39) |
C268R |
possibly damaging |
Het |
| Hadha |
G |
A |
5: 30,333,834 (GRCm39) |
T395M |
probably benign |
Het |
| Hdhd2 |
T |
G |
18: 77,052,738 (GRCm39) |
|
probably null |
Het |
| Homer2 |
C |
T |
7: 81,268,451 (GRCm39) |
E70K |
probably benign |
Het |
| Hp1bp3 |
T |
A |
4: 137,967,983 (GRCm39) |
D397E |
probably damaging |
Het |
| Hrh3 |
T |
C |
2: 179,743,043 (GRCm39) |
N195S |
possibly damaging |
Het |
| Hyou1 |
T |
C |
9: 44,292,849 (GRCm39) |
V153A |
probably benign |
Het |
| Igf2r |
A |
T |
17: 12,920,206 (GRCm39) |
S1378T |
possibly damaging |
Het |
| Ints4 |
G |
A |
7: 97,150,970 (GRCm39) |
R279H |
possibly damaging |
Het |
| Itga10 |
A |
T |
3: 96,562,314 (GRCm39) |
R699* |
probably null |
Het |
| Itpkb |
A |
G |
1: 180,249,423 (GRCm39) |
T933A |
probably benign |
Het |
| Itsn2 |
T |
G |
12: 4,677,879 (GRCm39) |
F79V |
probably damaging |
Het |
| Jak3 |
C |
A |
8: 72,133,358 (GRCm39) |
C350* |
probably null |
Het |
| Jak3 |
A |
T |
8: 72,136,059 (GRCm39) |
K620* |
probably null |
Het |
| Kcnq5 |
T |
C |
1: 21,531,821 (GRCm39) |
S421G |
probably benign |
Het |
| Kdm2b |
A |
T |
5: 123,021,428 (GRCm39) |
M50K |
probably damaging |
Het |
| Klk1b1 |
A |
G |
7: 43,620,047 (GRCm39) |
D170G |
possibly damaging |
Het |
| Lama3 |
A |
T |
18: 12,661,783 (GRCm39) |
T2160S |
probably benign |
Het |
| Lman1 |
A |
T |
18: 66,131,423 (GRCm39) |
|
probably benign |
Het |
| Lmtk3 |
G |
A |
7: 45,450,335 (GRCm39) |
|
probably null |
Het |
| Ltb |
A |
G |
17: 35,414,739 (GRCm39) |
R180G |
probably damaging |
Het |
| Ltbp4 |
C |
T |
7: 27,008,378 (GRCm39) |
R1310Q |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,393,712 (GRCm39) |
|
probably null |
Het |
| Mast4 |
G |
T |
13: 102,875,354 (GRCm39) |
P1146Q |
probably damaging |
Het |
| Micall2 |
C |
T |
5: 139,697,317 (GRCm39) |
S678N |
probably damaging |
Het |
| Mon2 |
A |
T |
10: 122,831,681 (GRCm39) |
I1675N |
probably damaging |
Het |
| Mug2 |
A |
G |
6: 122,056,571 (GRCm39) |
N1172S |
probably benign |
Het |
| Naa30 |
C |
G |
14: 49,410,556 (GRCm39) |
S161R |
possibly damaging |
Het |
| Ncaph |
T |
C |
2: 126,966,795 (GRCm39) |
N220D |
probably damaging |
Het |
| Nell1 |
T |
C |
7: 50,210,578 (GRCm39) |
V497A |
possibly damaging |
Het |
| Ngly1 |
A |
G |
14: 16,277,877 (GRCm38) |
N142S |
possibly damaging |
Het |
| Nin |
T |
A |
12: 70,089,192 (GRCm39) |
T1408S |
possibly damaging |
Het |
| Nlrp4g |
T |
A |
9: 124,349,693 (GRCm38) |
|
noncoding transcript |
Het |
| Nrg1 |
T |
G |
8: 32,408,043 (GRCm39) |
E63D |
probably damaging |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Or14j7 |
A |
G |
17: 38,234,771 (GRCm39) |
T105A |
probably benign |
Het |
| Or5d39 |
T |
C |
2: 87,979,487 (GRCm39) |
Y292C |
probably damaging |
Het |
| Or5g29 |
G |
A |
2: 85,421,627 (GRCm39) |
V248I |
possibly damaging |
Het |
| Or5p53 |
C |
T |
7: 107,532,868 (GRCm39) |
T47M |
probably benign |
Het |
| Or6ae1 |
T |
A |
7: 139,742,737 (GRCm39) |
E42V |
probably damaging |
Het |
| Or7d11 |
A |
T |
9: 19,965,892 (GRCm39) |
I289N |
probably damaging |
Het |
| Or7g27 |
A |
G |
9: 19,250,352 (GRCm39) |
I199V |
probably benign |
Het |
| Or7g32 |
T |
A |
9: 19,408,533 (GRCm39) |
V163E |
possibly damaging |
Het |
| Orc5 |
C |
T |
5: 22,721,701 (GRCm39) |
|
probably null |
Het |
| Pard3 |
G |
A |
8: 128,125,085 (GRCm39) |
R691Q |
probably benign |
Het |
| Pofut1 |
T |
A |
2: 153,085,580 (GRCm39) |
D54E |
probably benign |
Het |
| Prl2c5 |
T |
A |
13: 13,365,238 (GRCm39) |
V128E |
probably damaging |
Het |
| Ptk7 |
T |
C |
17: 46,877,164 (GRCm39) |
M965V |
possibly damaging |
Het |
| Pum2 |
C |
T |
12: 8,778,726 (GRCm39) |
R459* |
probably null |
Het |
| Pzp |
A |
T |
6: 128,460,673 (GRCm39) |
N1494K |
probably benign |
Het |
| Rad21l |
A |
G |
2: 151,487,349 (GRCm39) |
V545A |
probably benign |
Het |
| Rps6kc1 |
A |
T |
1: 190,542,305 (GRCm39) |
M352K |
possibly damaging |
Het |
| Rpusd2 |
G |
A |
2: 118,867,696 (GRCm39) |
|
probably null |
Het |
| Rsph14 |
A |
T |
10: 74,865,603 (GRCm39) |
D78E |
probably damaging |
Het |
| Rtl9 |
A |
T |
X: 141,885,026 (GRCm39) |
M813L |
possibly damaging |
Het |
| Rtp4 |
A |
T |
16: 23,431,690 (GRCm39) |
H74L |
probably damaging |
Het |
| Rusc1 |
G |
A |
3: 88,995,155 (GRCm39) |
T725I |
possibly damaging |
Het |
| Rusf1 |
A |
G |
7: 127,887,503 (GRCm39) |
L176P |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,610,622 (GRCm39) |
C4068Y |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,784,709 (GRCm39) |
V224A |
possibly damaging |
Het |
| Shprh |
A |
T |
10: 11,027,864 (GRCm39) |
N157I |
probably benign |
Het |
| Siglece |
A |
G |
7: 43,307,210 (GRCm39) |
I67T |
probably benign |
Het |
| Slc9b2 |
A |
T |
3: 135,032,027 (GRCm39) |
T296S |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,228,666 (GRCm39) |
K276E |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,087,755 (GRCm39) |
T1269A |
probably benign |
Het |
| Taar7b |
T |
C |
10: 23,876,573 (GRCm39) |
I246T |
possibly damaging |
Het |
| Taldo1 |
A |
G |
7: 140,976,067 (GRCm39) |
Y113C |
probably damaging |
Het |
| Tarbp1 |
A |
T |
8: 127,174,333 (GRCm39) |
|
probably null |
Het |
| Tars1 |
C |
T |
15: 11,394,459 (GRCm39) |
M59I |
probably benign |
Het |
| Tas2r130 |
G |
A |
6: 131,607,780 (GRCm39) |
T5I |
probably benign |
Het |
| Tex48 |
T |
C |
4: 63,525,652 (GRCm39) |
E77G |
probably damaging |
Het |
| Tmco5 |
A |
G |
2: 116,722,736 (GRCm39) |
R286G |
probably damaging |
Het |
| Trdmt1 |
A |
T |
2: 13,524,725 (GRCm39) |
H243Q |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,564,638 (GRCm39) |
R26754* |
probably null |
Het |
| Ttn |
G |
A |
2: 76,727,924 (GRCm39) |
|
probably benign |
Het |
| Ubqln3 |
A |
C |
7: 103,791,358 (GRCm39) |
L244R |
probably damaging |
Het |
| Ubxn1 |
C |
T |
19: 8,850,930 (GRCm39) |
R115* |
probably null |
Het |
| Umod |
T |
G |
7: 119,075,938 (GRCm39) |
N276T |
probably damaging |
Het |
| Unc13c |
A |
T |
9: 73,572,938 (GRCm39) |
L1528Q |
probably damaging |
Het |
| Unc80 |
T |
A |
1: 66,679,754 (GRCm39) |
H2108Q |
possibly damaging |
Het |
| Utp4 |
A |
G |
8: 107,625,153 (GRCm39) |
Q144R |
probably benign |
Het |
| Vmn2r17 |
T |
A |
5: 109,575,075 (GRCm39) |
N127K |
probably benign |
Het |
| Vmn2r75 |
T |
A |
7: 85,814,372 (GRCm39) |
T374S |
probably benign |
Het |
| Washc5 |
A |
G |
15: 59,222,257 (GRCm39) |
F523L |
probably damaging |
Het |
| Wdr3 |
A |
T |
3: 100,067,213 (GRCm39) |
|
probably null |
Het |
| Wdr89 |
T |
C |
12: 75,679,762 (GRCm39) |
Y164C |
probably damaging |
Het |
| Xpo5 |
T |
C |
17: 46,536,017 (GRCm39) |
S550P |
probably damaging |
Het |
| Zfp69 |
T |
C |
4: 120,788,029 (GRCm39) |
T429A |
probably damaging |
Het |
| Zfpm1 |
G |
T |
8: 123,063,331 (GRCm39) |
G797C |
probably benign |
Het |
|
| Other mutations in Utp20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00530:Utp20
|
APN |
10 |
88,661,306 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL00858:Utp20
|
APN |
10 |
88,644,987 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL00858:Utp20
|
APN |
10 |
88,645,000 (GRCm39) |
missense |
probably benign |
|
|
IGL00946:Utp20
|
APN |
10 |
88,584,177 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01061:Utp20
|
APN |
10 |
88,606,566 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01399:Utp20
|
APN |
10 |
88,594,164 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01548:Utp20
|
APN |
10 |
88,600,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01587:Utp20
|
APN |
10 |
88,623,397 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01789:Utp20
|
APN |
10 |
88,634,141 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01819:Utp20
|
APN |
10 |
88,628,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02070:Utp20
|
APN |
10 |
88,657,739 (GRCm39) |
splice site |
probably benign |
|
|
IGL02231:Utp20
|
APN |
10 |
88,627,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02244:Utp20
|
APN |
10 |
88,651,818 (GRCm39) |
splice site |
probably benign |
|
|
IGL02367:Utp20
|
APN |
10 |
88,607,715 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02553:Utp20
|
APN |
10 |
88,600,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02748:Utp20
|
APN |
10 |
88,653,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02831:Utp20
|
APN |
10 |
88,651,770 (GRCm39) |
missense |
probably benign |
|
|
IGL02986:Utp20
|
APN |
10 |
88,611,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02997:Utp20
|
APN |
10 |
88,649,896 (GRCm39) |
missense |
probably benign |
|
|
IGL03105:Utp20
|
APN |
10 |
88,626,958 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03251:Utp20
|
APN |
10 |
88,653,188 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03337:Utp20
|
APN |
10 |
88,590,428 (GRCm39) |
missense |
probably benign |
|
|
IGL03348:Utp20
|
APN |
10 |
88,594,179 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03381:Utp20
|
APN |
10 |
88,657,867 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Bell
|
UTSW |
10 |
88,628,487 (GRCm39) |
missense |
probably benign |
0.29 |
|
elite
|
UTSW |
10 |
88,606,670 (GRCm39) |
missense |
probably benign |
|
|
Margin
|
UTSW |
10 |
88,604,541 (GRCm39) |
missense |
probably benign |
0.04 |
|
Percentile
|
UTSW |
10 |
88,611,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0037:Utp20
|
UTSW |
10 |
88,634,266 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0107:Utp20
|
UTSW |
10 |
88,614,253 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0197:Utp20
|
UTSW |
10 |
88,613,378 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0219:Utp20
|
UTSW |
10 |
88,600,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0315:Utp20
|
UTSW |
10 |
88,643,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0328:Utp20
|
UTSW |
10 |
88,602,969 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0329:Utp20
|
UTSW |
10 |
88,653,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0330:Utp20
|
UTSW |
10 |
88,653,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0395:Utp20
|
UTSW |
10 |
88,654,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0399:Utp20
|
UTSW |
10 |
88,656,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0454:Utp20
|
UTSW |
10 |
88,657,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0456:Utp20
|
UTSW |
10 |
88,590,435 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0491:Utp20
|
UTSW |
10 |
88,596,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0557:Utp20
|
UTSW |
10 |
88,584,173 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0600:Utp20
|
UTSW |
10 |
88,603,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0616:Utp20
|
UTSW |
10 |
88,606,613 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1076:Utp20
|
UTSW |
10 |
88,608,405 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1076:Utp20
|
UTSW |
10 |
88,608,321 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1330:Utp20
|
UTSW |
10 |
88,637,051 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1440:Utp20
|
UTSW |
10 |
88,655,201 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1529:Utp20
|
UTSW |
10 |
88,588,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1554:Utp20
|
UTSW |
10 |
88,600,599 (GRCm39) |
nonsense |
probably null |
|
|
R1621:Utp20
|
UTSW |
10 |
88,598,733 (GRCm39) |
missense |
probably benign |
|
|
R1641:Utp20
|
UTSW |
10 |
88,593,834 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1709:Utp20
|
UTSW |
10 |
88,585,159 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1734:Utp20
|
UTSW |
10 |
88,603,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1755:Utp20
|
UTSW |
10 |
88,645,631 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1775:Utp20
|
UTSW |
10 |
88,606,670 (GRCm39) |
missense |
probably benign |
|
|
R1866:Utp20
|
UTSW |
10 |
88,598,632 (GRCm39) |
nonsense |
probably null |
|
|
R1867:Utp20
|
UTSW |
10 |
88,585,305 (GRCm39) |
missense |
probably benign |
|
|
R1901:Utp20
|
UTSW |
10 |
88,588,888 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1902:Utp20
|
UTSW |
10 |
88,588,888 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1967:Utp20
|
UTSW |
10 |
88,652,841 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2102:Utp20
|
UTSW |
10 |
88,608,779 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2110:Utp20
|
UTSW |
10 |
88,603,313 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2115:Utp20
|
UTSW |
10 |
88,621,865 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2128:Utp20
|
UTSW |
10 |
88,649,917 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2129:Utp20
|
UTSW |
10 |
88,649,917 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2180:Utp20
|
UTSW |
10 |
88,656,801 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2280:Utp20
|
UTSW |
10 |
88,661,365 (GRCm39) |
splice site |
probably null |
|
|
R2435:Utp20
|
UTSW |
10 |
88,656,753 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2914:Utp20
|
UTSW |
10 |
88,590,337 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3005:Utp20
|
UTSW |
10 |
88,613,317 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3546:Utp20
|
UTSW |
10 |
88,618,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3547:Utp20
|
UTSW |
10 |
88,618,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3622:Utp20
|
UTSW |
10 |
88,593,855 (GRCm39) |
unclassified |
probably benign |
|
|
R3737:Utp20
|
UTSW |
10 |
88,598,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3738:Utp20
|
UTSW |
10 |
88,598,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3841:Utp20
|
UTSW |
10 |
88,611,065 (GRCm39) |
unclassified |
probably benign |
|
|
R4034:Utp20
|
UTSW |
10 |
88,598,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4035:Utp20
|
UTSW |
10 |
88,598,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4157:Utp20
|
UTSW |
10 |
88,597,729 (GRCm39) |
missense |
probably benign |
|
|
R4243:Utp20
|
UTSW |
10 |
88,643,187 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4295:Utp20
|
UTSW |
10 |
88,590,381 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4632:Utp20
|
UTSW |
10 |
88,614,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4633:Utp20
|
UTSW |
10 |
88,588,814 (GRCm39) |
missense |
probably benign |
|
|
R4684:Utp20
|
UTSW |
10 |
88,643,307 (GRCm39) |
nonsense |
probably null |
|
|
R4731:Utp20
|
UTSW |
10 |
88,590,382 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4735:Utp20
|
UTSW |
10 |
88,652,780 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4772:Utp20
|
UTSW |
10 |
88,645,797 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4912:Utp20
|
UTSW |
10 |
88,607,822 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4974:Utp20
|
UTSW |
10 |
88,652,811 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4991:Utp20
|
UTSW |
10 |
88,582,796 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5004:Utp20
|
UTSW |
10 |
88,584,135 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5037:Utp20
|
UTSW |
10 |
88,611,192 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5043:Utp20
|
UTSW |
10 |
88,634,608 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5108:Utp20
|
UTSW |
10 |
88,604,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5138:Utp20
|
UTSW |
10 |
88,583,239 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5252:Utp20
|
UTSW |
10 |
88,586,532 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5394:Utp20
|
UTSW |
10 |
88,608,777 (GRCm39) |
nonsense |
probably null |
|
|
R5470:Utp20
|
UTSW |
10 |
88,653,758 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5558:Utp20
|
UTSW |
10 |
88,587,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5678:Utp20
|
UTSW |
10 |
88,644,979 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5822:Utp20
|
UTSW |
10 |
88,653,147 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5866:Utp20
|
UTSW |
10 |
88,608,421 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5924:Utp20
|
UTSW |
10 |
88,651,784 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6026:Utp20
|
UTSW |
10 |
88,604,541 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6363:Utp20
|
UTSW |
10 |
88,592,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6434:Utp20
|
UTSW |
10 |
88,608,395 (GRCm39) |
nonsense |
probably null |
|
|
R6477:Utp20
|
UTSW |
10 |
88,604,780 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6480:Utp20
|
UTSW |
10 |
88,591,048 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6989:Utp20
|
UTSW |
10 |
88,614,102 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7033:Utp20
|
UTSW |
10 |
88,590,337 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7192:Utp20
|
UTSW |
10 |
88,608,321 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7236:Utp20
|
UTSW |
10 |
88,585,204 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7260:Utp20
|
UTSW |
10 |
88,587,334 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7296:Utp20
|
UTSW |
10 |
88,606,586 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7317:Utp20
|
UTSW |
10 |
88,598,797 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7318:Utp20
|
UTSW |
10 |
88,649,811 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7330:Utp20
|
UTSW |
10 |
88,623,424 (GRCm39) |
frame shift |
probably null |
|
|
R7367:Utp20
|
UTSW |
10 |
88,631,305 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7432:Utp20
|
UTSW |
10 |
88,634,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7447:Utp20
|
UTSW |
10 |
88,608,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7473:Utp20
|
UTSW |
10 |
88,656,572 (GRCm39) |
splice site |
probably null |
|
|
R7520:Utp20
|
UTSW |
10 |
88,654,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7530:Utp20
|
UTSW |
10 |
88,588,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7539:Utp20
|
UTSW |
10 |
88,627,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7651:Utp20
|
UTSW |
10 |
88,590,457 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7728:Utp20
|
UTSW |
10 |
88,634,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7831:Utp20
|
UTSW |
10 |
88,598,632 (GRCm39) |
nonsense |
probably null |
|
|
R7833:Utp20
|
UTSW |
10 |
88,636,998 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7909:Utp20
|
UTSW |
10 |
88,611,192 (GRCm39) |
missense |
probably benign |
|
|
R7956:Utp20
|
UTSW |
10 |
88,618,476 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7999:Utp20
|
UTSW |
10 |
88,606,250 (GRCm39) |
missense |
probably benign |
|
|
R8080:Utp20
|
UTSW |
10 |
88,618,577 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8098:Utp20
|
UTSW |
10 |
88,588,810 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8104:Utp20
|
UTSW |
10 |
88,593,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8129:Utp20
|
UTSW |
10 |
88,628,487 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8147:Utp20
|
UTSW |
10 |
88,594,306 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8199:Utp20
|
UTSW |
10 |
88,634,337 (GRCm39) |
missense |
probably benign |
|
|
R8222:Utp20
|
UTSW |
10 |
88,614,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8415:Utp20
|
UTSW |
10 |
88,662,466 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8466:Utp20
|
UTSW |
10 |
88,654,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8505:Utp20
|
UTSW |
10 |
88,653,870 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8774:Utp20
|
UTSW |
10 |
88,588,763 (GRCm39) |
splice site |
probably benign |
|
|
R8802:Utp20
|
UTSW |
10 |
88,583,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8923:Utp20
|
UTSW |
10 |
88,627,604 (GRCm39) |
nonsense |
probably null |
|
|
R8945:Utp20
|
UTSW |
10 |
88,628,532 (GRCm39) |
nonsense |
probably null |
|
|
R9065:Utp20
|
UTSW |
10 |
88,592,972 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9092:Utp20
|
UTSW |
10 |
88,611,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9092:Utp20
|
UTSW |
10 |
88,604,679 (GRCm39) |
missense |
probably benign |
|
|
R9094:Utp20
|
UTSW |
10 |
88,611,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9095:Utp20
|
UTSW |
10 |
88,611,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9096:Utp20
|
UTSW |
10 |
88,611,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9229:Utp20
|
UTSW |
10 |
88,594,239 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9323:Utp20
|
UTSW |
10 |
88,583,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9336:Utp20
|
UTSW |
10 |
88,649,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9467:Utp20
|
UTSW |
10 |
88,640,390 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9545:Utp20
|
UTSW |
10 |
88,618,511 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9659:Utp20
|
UTSW |
10 |
88,653,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9788:Utp20
|
UTSW |
10 |
88,653,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF005:Utp20
|
UTSW |
10 |
88,661,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF024:Utp20
|
UTSW |
10 |
88,661,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAACAGCCCAAGGGTCTG -3'
(R):5'- AGCCAGAAATGCTGCCTATTAAC -3'
Sequencing Primer
(F):5'- CCAAGGGTCTGCCATGAC -3'
(R):5'- AAACATATTGCCCTTTCCTTTCAGAG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation