Incidental Mutation 'R2060:C4b'
| ID |
228665 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C4b
|
| Ensembl Gene |
ENSMUSG00000073418 |
| Gene Name |
complement C4B (Chido blood group) |
| Synonyms |
Ss, C4 |
| MMRRC Submission |
040065-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2060 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34947354-34962856 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34955075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 804
(W804R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069507]
|
| AlphaFold |
P01029 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069507
AA Change: W804R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069418
Gene: ENSMUSG00000073418
AA Change: W804R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:A2M_N
|
138 |
231 |
2e-19 |
PFAM |
|
A2M_N_2
|
470 |
609 |
2.87e-26 |
SMART |
|
ANATO
|
700 |
734 |
3.58e-12 |
SMART |
|
low complexity region
|
761 |
771 |
N/A |
INTRINSIC |
|
A2M
|
779 |
867 |
1.46e-27 |
SMART |
|
Pfam:Thiol-ester_cl
|
995 |
1024 |
7.7e-13 |
PFAM |
|
Pfam:A2M_comp
|
1047 |
1313 |
1.3e-82 |
PFAM |
|
low complexity region
|
1441 |
1447 |
N/A |
INTRINSIC |
|
A2M_recep
|
1475 |
1564 |
1.03e-36 |
SMART |
|
C345C
|
1608 |
1720 |
5.69e-40 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173057
|
| SMART Domains |
Protein: ENSMUSP00000134611
Gene: ENSMUSG00000073418
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A2M
|
1 |
62 |
6.5e-20 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous C4 deficient mice have compromised immune responses. [provided by MGI curators]
|
| 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 |
| 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 |
| Utp20 |
A |
C |
10: 88,610,657 (GRCm39) |
D1442E |
probably 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 C4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:C4b
|
APN |
17 |
34,953,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00433:C4b
|
APN |
17 |
34,961,015 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL00471:C4b
|
APN |
17 |
34,953,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00515:C4b
|
APN |
17 |
34,947,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01599:C4b
|
APN |
17 |
34,961,993 (GRCm39) |
splice site |
probably benign |
|
|
IGL01761:C4b
|
APN |
17 |
34,958,912 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02004:C4b
|
APN |
17 |
34,957,984 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02215:C4b
|
APN |
17 |
34,953,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02517:C4b
|
APN |
17 |
34,953,382 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02926:C4b
|
APN |
17 |
34,949,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03031:C4b
|
APN |
17 |
34,950,104 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL03057:C4b
|
APN |
17 |
34,956,738 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03165:C4b
|
APN |
17 |
34,958,929 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03380:C4b
|
APN |
17 |
34,959,260 (GRCm39) |
missense |
probably benign |
0.01 |
|
Aspiration
|
UTSW |
17 |
34,953,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
Inspiration
|
UTSW |
17 |
34,951,140 (GRCm39) |
splice site |
probably null |
|
|
Peroration
|
UTSW |
17 |
34,948,373 (GRCm39) |
critical splice donor site |
probably null |
|
|
perspiration
|
UTSW |
17 |
34,948,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4548:C4b
|
UTSW |
17 |
34,959,971 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4142001:C4b
|
UTSW |
17 |
34,952,675 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0064:C4b
|
UTSW |
17 |
34,957,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0113:C4b
|
UTSW |
17 |
34,960,214 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0143:C4b
|
UTSW |
17 |
34,953,193 (GRCm39) |
unclassified |
probably benign |
|
|
R0254:C4b
|
UTSW |
17 |
34,953,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0320:C4b
|
UTSW |
17 |
34,952,135 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0391:C4b
|
UTSW |
17 |
34,954,588 (GRCm39) |
splice site |
probably benign |
|
|
R0399:C4b
|
UTSW |
17 |
34,947,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0467:C4b
|
UTSW |
17 |
34,955,101 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0549:C4b
|
UTSW |
17 |
34,954,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0561:C4b
|
UTSW |
17 |
34,953,391 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0662:C4b
|
UTSW |
17 |
34,949,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0941:C4b
|
UTSW |
17 |
34,959,029 (GRCm39) |
missense |
probably benign |
|
|
R1161:C4b
|
UTSW |
17 |
34,948,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1169:C4b
|
UTSW |
17 |
34,961,946 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1186:C4b
|
UTSW |
17 |
34,955,283 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1310:C4b
|
UTSW |
17 |
34,948,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1398:C4b
|
UTSW |
17 |
34,949,693 (GRCm39) |
unclassified |
probably benign |
|
|
R1472:C4b
|
UTSW |
17 |
34,962,743 (GRCm39) |
nonsense |
probably null |
|
|
R1496:C4b
|
UTSW |
17 |
34,958,995 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1544:C4b
|
UTSW |
17 |
34,957,941 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1588:C4b
|
UTSW |
17 |
34,959,999 (GRCm39) |
missense |
probably benign |
|
|
R1645:C4b
|
UTSW |
17 |
34,959,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1664:C4b
|
UTSW |
17 |
34,951,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1678:C4b
|
UTSW |
17 |
34,962,624 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1710:C4b
|
UTSW |
17 |
34,962,638 (GRCm39) |
splice site |
probably benign |
|
|
R1713:C4b
|
UTSW |
17 |
34,948,245 (GRCm39) |
splice site |
probably benign |
|
|
R1770:C4b
|
UTSW |
17 |
34,955,901 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1859:C4b
|
UTSW |
17 |
34,954,527 (GRCm39) |
missense |
probably benign |
|
|
R1924:C4b
|
UTSW |
17 |
34,948,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2057:C4b
|
UTSW |
17 |
34,947,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2184:C4b
|
UTSW |
17 |
34,956,676 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2306:C4b
|
UTSW |
17 |
34,947,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2363:C4b
|
UTSW |
17 |
34,955,032 (GRCm39) |
splice site |
probably benign |
|
|
R2365:C4b
|
UTSW |
17 |
34,955,032 (GRCm39) |
splice site |
probably benign |
|
|
R2379:C4b
|
UTSW |
17 |
34,954,717 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2860:C4b
|
UTSW |
17 |
34,953,732 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2861:C4b
|
UTSW |
17 |
34,953,732 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3551:C4b
|
UTSW |
17 |
34,960,846 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R3765:C4b
|
UTSW |
17 |
34,948,814 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4157:C4b
|
UTSW |
17 |
34,961,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4299:C4b
|
UTSW |
17 |
34,950,118 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4365:C4b
|
UTSW |
17 |
34,953,717 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4411:C4b
|
UTSW |
17 |
34,947,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4613:C4b
|
UTSW |
17 |
34,953,525 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4784:C4b
|
UTSW |
17 |
34,952,380 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4790:C4b
|
UTSW |
17 |
34,953,117 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4831:C4b
|
UTSW |
17 |
34,955,864 (GRCm39) |
splice site |
probably null |
|
|
R4879:C4b
|
UTSW |
17 |
34,962,621 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5036:C4b
|
UTSW |
17 |
34,959,419 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5361:C4b
|
UTSW |
17 |
34,960,212 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5384:C4b
|
UTSW |
17 |
34,956,635 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5518:C4b
|
UTSW |
17 |
34,953,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5590:C4b
|
UTSW |
17 |
34,959,309 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5643:C4b
|
UTSW |
17 |
34,961,391 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5644:C4b
|
UTSW |
17 |
34,961,391 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5833:C4b
|
UTSW |
17 |
34,949,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5931:C4b
|
UTSW |
17 |
34,948,167 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6178:C4b
|
UTSW |
17 |
34,952,380 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6209:C4b
|
UTSW |
17 |
34,960,061 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6225:C4b
|
UTSW |
17 |
34,957,848 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6518:C4b
|
UTSW |
17 |
34,953,179 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6613:C4b
|
UTSW |
17 |
34,952,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6781:C4b
|
UTSW |
17 |
34,961,928 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6807:C4b
|
UTSW |
17 |
34,949,930 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6858:C4b
|
UTSW |
17 |
34,948,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6962:C4b
|
UTSW |
17 |
34,951,140 (GRCm39) |
splice site |
probably null |
|
|
R7068:C4b
|
UTSW |
17 |
34,952,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7081:C4b
|
UTSW |
17 |
34,954,417 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7105:C4b
|
UTSW |
17 |
34,949,885 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7211:C4b
|
UTSW |
17 |
34,954,508 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7296:C4b
|
UTSW |
17 |
34,962,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7314:C4b
|
UTSW |
17 |
34,959,330 (GRCm39) |
missense |
probably benign |
|
|
R7330:C4b
|
UTSW |
17 |
34,949,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7397:C4b
|
UTSW |
17 |
34,961,364 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7437:C4b
|
UTSW |
17 |
34,953,707 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7490:C4b
|
UTSW |
17 |
34,950,054 (GRCm39) |
nonsense |
probably null |
|
|
R7597:C4b
|
UTSW |
17 |
34,958,649 (GRCm39) |
missense |
probably benign |
|
|
R7633:C4b
|
UTSW |
17 |
34,948,373 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7900:C4b
|
UTSW |
17 |
34,958,751 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7910:C4b
|
UTSW |
17 |
34,959,326 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7923:C4b
|
UTSW |
17 |
34,961,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7960:C4b
|
UTSW |
17 |
34,960,252 (GRCm39) |
splice site |
probably null |
|
|
R8420:C4b
|
UTSW |
17 |
34,953,513 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8467:C4b
|
UTSW |
17 |
34,951,787 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8558:C4b
|
UTSW |
17 |
34,955,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:C4b
|
UTSW |
17 |
34,953,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8727:C4b
|
UTSW |
17 |
34,953,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8853:C4b
|
UTSW |
17 |
34,948,879 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8934:C4b
|
UTSW |
17 |
34,951,958 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8944:C4b
|
UTSW |
17 |
34,961,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8960:C4b
|
UTSW |
17 |
34,952,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8982:C4b
|
UTSW |
17 |
34,953,338 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9104:C4b
|
UTSW |
17 |
34,948,233 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9114:C4b
|
UTSW |
17 |
34,948,404 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9348:C4b
|
UTSW |
17 |
34,952,159 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9428:C4b
|
UTSW |
17 |
34,949,885 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9533:C4b
|
UTSW |
17 |
34,956,698 (GRCm39) |
nonsense |
probably null |
|
|
R9591:C4b
|
UTSW |
17 |
34,957,929 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9678:C4b
|
UTSW |
17 |
34,960,763 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:C4b
|
UTSW |
17 |
34,950,121 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGGTTCTGGAATGACTGC -3'
(R):5'- TGCTGCAGGAGGAAGACTTG -3'
Sequencing Primer
(F):5'- TGGAATGACTGCCCTCTGC -3'
(R):5'- AAGACGACATTCTTGTGCGC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation