Incidental Mutation 'R3005:Utp20'
ID | 257422 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Utp20
|
Ensembl Gene |
ENSMUSG00000004356 |
Gene Name | UTP20 small subunit processome component |
Synonyms | 3830408P06Rik, DRIM, mDRIM |
Accession Numbers | |
Is this an essential gene? |
Probably essential (E-score: 0.958)
|
Stock # | R3005 (G1)
|
Quality Score | 225 |
Status |
Not validated
|
Chromosome | 10 |
Chromosomal Location | 88746607-88826804 bp(-) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
C to A
at 88777455 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 1321
(K1321N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004470
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004470]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000004470
AA Change: K1321N
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000004470 Gene: ENSMUSG00000004356 AA Change: K1321N
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: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610009O20Rik |
T |
A |
18: 38,259,959 |
N405K |
possibly damaging |
Het |
4931406P16Rik |
T |
C |
7: 34,284,784 |
E138G |
probably damaging |
Het |
Cep162 |
C |
A |
9: 87,232,060 |
V320L |
probably benign |
Het |
Cnga1 |
T |
A |
5: 72,605,107 |
I355F |
probably damaging |
Het |
Csnk1e |
T |
C |
15: 79,438,805 |
I15V |
probably benign |
Het |
Exosc8 |
T |
C |
3: 54,732,147 |
|
probably null |
Het |
Gstm3 |
G |
T |
3: 107,967,607 |
Q110K |
probably benign |
Het |
Hace1 |
G |
A |
10: 45,648,863 |
G242R |
probably damaging |
Het |
Lcn6 |
T |
A |
2: 25,677,249 |
|
probably null |
Het |
Msh6 |
A |
G |
17: 87,988,285 |
E1088G |
probably benign |
Het |
Nlrp4c |
G |
A |
7: 6,065,525 |
V142M |
probably benign |
Het |
Nup50 |
G |
A |
15: 84,929,460 |
|
probably null |
Het |
Olfr577 |
C |
T |
7: 102,973,258 |
V245I |
possibly damaging |
Het |
Ppp2r5a |
A |
T |
1: 191,358,976 |
F218Y |
probably damaging |
Het |
Ptov1 |
T |
C |
7: 44,864,462 |
N52S |
probably damaging |
Het |
Rif1 |
G |
A |
2: 52,082,764 |
A303T |
probably damaging |
Het |
Ror1 |
T |
A |
4: 100,441,764 |
V778E |
probably damaging |
Het |
Tcaf3 |
A |
T |
6: 42,594,044 |
L258H |
probably damaging |
Het |
Vmn2r54 |
T |
A |
7: 12,615,294 |
Q787L |
probably benign |
Het |
|
Other mutations in Utp20 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00530:Utp20
|
APN |
10 |
88825444 |
missense |
possibly damaging |
0.90 |
IGL00858:Utp20
|
APN |
10 |
88809125 |
missense |
possibly damaging |
0.69 |
IGL00858:Utp20
|
APN |
10 |
88809138 |
missense |
probably benign |
|
IGL00946:Utp20
|
APN |
10 |
88748315 |
missense |
possibly damaging |
0.82 |
IGL01061:Utp20
|
APN |
10 |
88770704 |
missense |
probably benign |
0.13 |
IGL01399:Utp20
|
APN |
10 |
88758302 |
critical splice donor site |
probably null |
|
IGL01548:Utp20
|
APN |
10 |
88764781 |
missense |
probably damaging |
1.00 |
IGL01587:Utp20
|
APN |
10 |
88787535 |
missense |
probably damaging |
0.98 |
IGL01789:Utp20
|
APN |
10 |
88798279 |
critical splice donor site |
probably null |
|
IGL01819:Utp20
|
APN |
10 |
88792687 |
missense |
probably damaging |
1.00 |
IGL02070:Utp20
|
APN |
10 |
88821877 |
splice site |
probably benign |
|
IGL02231:Utp20
|
APN |
10 |
88791168 |
missense |
probably damaging |
1.00 |
IGL02244:Utp20
|
APN |
10 |
88815956 |
splice site |
probably benign |
|
IGL02367:Utp20
|
APN |
10 |
88771853 |
unclassified |
probably benign |
|
IGL02553:Utp20
|
APN |
10 |
88764795 |
missense |
probably damaging |
0.99 |
IGL02748:Utp20
|
APN |
10 |
88817295 |
missense |
probably benign |
0.00 |
IGL02831:Utp20
|
APN |
10 |
88815908 |
missense |
probably benign |
|
IGL02986:Utp20
|
APN |
10 |
88775285 |
missense |
probably damaging |
1.00 |
IGL02997:Utp20
|
APN |
10 |
88814034 |
missense |
probably benign |
|
IGL03105:Utp20
|
APN |
10 |
88791096 |
missense |
probably benign |
0.10 |
IGL03251:Utp20
|
APN |
10 |
88817326 |
critical splice acceptor site |
probably null |
|
IGL03337:Utp20
|
APN |
10 |
88754566 |
missense |
probably benign |
|
IGL03348:Utp20
|
APN |
10 |
88758317 |
missense |
probably benign |
0.09 |
IGL03381:Utp20
|
APN |
10 |
88822005 |
missense |
probably damaging |
0.99 |
R0037:Utp20
|
UTSW |
10 |
88798404 |
missense |
probably benign |
0.05 |
R0107:Utp20
|
UTSW |
10 |
88778391 |
missense |
probably benign |
0.03 |
R0197:Utp20
|
UTSW |
10 |
88777516 |
missense |
probably benign |
0.22 |
R0219:Utp20
|
UTSW |
10 |
88764675 |
missense |
probably damaging |
1.00 |
R0315:Utp20
|
UTSW |
10 |
88807421 |
missense |
probably damaging |
1.00 |
R0328:Utp20
|
UTSW |
10 |
88767107 |
missense |
possibly damaging |
0.82 |
R0329:Utp20
|
UTSW |
10 |
88817979 |
missense |
probably benign |
0.00 |
R0330:Utp20
|
UTSW |
10 |
88817979 |
missense |
probably benign |
0.00 |
R0395:Utp20
|
UTSW |
10 |
88818595 |
missense |
probably damaging |
1.00 |
R0399:Utp20
|
UTSW |
10 |
88820979 |
missense |
probably damaging |
1.00 |
R0454:Utp20
|
UTSW |
10 |
88822069 |
missense |
probably benign |
0.00 |
R0456:Utp20
|
UTSW |
10 |
88754573 |
missense |
possibly damaging |
0.92 |
R0491:Utp20
|
UTSW |
10 |
88760912 |
missense |
probably damaging |
1.00 |
R0557:Utp20
|
UTSW |
10 |
88748311 |
missense |
probably damaging |
0.99 |
R0600:Utp20
|
UTSW |
10 |
88767461 |
missense |
probably damaging |
1.00 |
R0616:Utp20
|
UTSW |
10 |
88770751 |
missense |
probably benign |
0.14 |
R1076:Utp20
|
UTSW |
10 |
88772459 |
missense |
probably benign |
0.36 |
R1076:Utp20
|
UTSW |
10 |
88772543 |
missense |
possibly damaging |
0.86 |
R1330:Utp20
|
UTSW |
10 |
88801189 |
missense |
probably damaging |
0.96 |
R1440:Utp20
|
UTSW |
10 |
88819339 |
missense |
probably benign |
0.19 |
R1529:Utp20
|
UTSW |
10 |
88753006 |
missense |
probably damaging |
1.00 |
R1554:Utp20
|
UTSW |
10 |
88764737 |
nonsense |
probably null |
|
R1621:Utp20
|
UTSW |
10 |
88762871 |
missense |
probably benign |
|
R1641:Utp20
|
UTSW |
10 |
88757972 |
missense |
possibly damaging |
0.82 |
R1709:Utp20
|
UTSW |
10 |
88749297 |
missense |
probably benign |
0.29 |
R1734:Utp20
|
UTSW |
10 |
88767461 |
missense |
probably damaging |
1.00 |
R1755:Utp20
|
UTSW |
10 |
88809769 |
missense |
probably benign |
0.01 |
R1775:Utp20
|
UTSW |
10 |
88770808 |
missense |
probably benign |
|
R1866:Utp20
|
UTSW |
10 |
88762770 |
nonsense |
probably null |
|
R1867:Utp20
|
UTSW |
10 |
88749443 |
missense |
probably benign |
|
R1901:Utp20
|
UTSW |
10 |
88753026 |
missense |
probably benign |
0.02 |
R1902:Utp20
|
UTSW |
10 |
88753026 |
missense |
probably benign |
0.02 |
R1967:Utp20
|
UTSW |
10 |
88816979 |
missense |
probably benign |
0.03 |
R2060:Utp20
|
UTSW |
10 |
88774795 |
missense |
probably damaging |
0.98 |
R2102:Utp20
|
UTSW |
10 |
88772917 |
missense |
probably damaging |
0.99 |
R2110:Utp20
|
UTSW |
10 |
88767451 |
critical splice donor site |
probably null |
|
R2115:Utp20
|
UTSW |
10 |
88786003 |
missense |
probably benign |
0.02 |
R2128:Utp20
|
UTSW |
10 |
88814055 |
missense |
probably damaging |
0.99 |
R2129:Utp20
|
UTSW |
10 |
88814055 |
missense |
probably damaging |
0.99 |
R2180:Utp20
|
UTSW |
10 |
88820939 |
missense |
probably damaging |
0.98 |
R2280:Utp20
|
UTSW |
10 |
88825503 |
splice site |
probably null |
|
R2435:Utp20
|
UTSW |
10 |
88820891 |
missense |
possibly damaging |
0.89 |
R2914:Utp20
|
UTSW |
10 |
88754475 |
critical splice donor site |
probably null |
|
R3546:Utp20
|
UTSW |
10 |
88782689 |
missense |
probably damaging |
1.00 |
R3547:Utp20
|
UTSW |
10 |
88782689 |
missense |
probably damaging |
1.00 |
R3622:Utp20
|
UTSW |
10 |
88757993 |
unclassified |
probably benign |
|
R3737:Utp20
|
UTSW |
10 |
88762806 |
missense |
probably benign |
0.00 |
R3738:Utp20
|
UTSW |
10 |
88762806 |
missense |
probably benign |
0.00 |
R3841:Utp20
|
UTSW |
10 |
88775203 |
unclassified |
probably benign |
|
R4034:Utp20
|
UTSW |
10 |
88762806 |
missense |
probably benign |
0.00 |
R4035:Utp20
|
UTSW |
10 |
88762806 |
missense |
probably benign |
0.00 |
R4157:Utp20
|
UTSW |
10 |
88761867 |
missense |
probably benign |
|
R4243:Utp20
|
UTSW |
10 |
88807325 |
critical splice donor site |
probably null |
|
R4295:Utp20
|
UTSW |
10 |
88754519 |
missense |
possibly damaging |
0.54 |
R4632:Utp20
|
UTSW |
10 |
88778261 |
missense |
probably damaging |
1.00 |
R4633:Utp20
|
UTSW |
10 |
88752952 |
missense |
probably benign |
|
R4684:Utp20
|
UTSW |
10 |
88807445 |
nonsense |
probably null |
|
R4731:Utp20
|
UTSW |
10 |
88754520 |
missense |
possibly damaging |
0.93 |
R4735:Utp20
|
UTSW |
10 |
88816918 |
missense |
possibly damaging |
0.91 |
R4772:Utp20
|
UTSW |
10 |
88809935 |
missense |
probably benign |
0.09 |
R4912:Utp20
|
UTSW |
10 |
88771960 |
missense |
probably benign |
0.01 |
R4974:Utp20
|
UTSW |
10 |
88816949 |
missense |
probably benign |
0.08 |
R4991:Utp20
|
UTSW |
10 |
88746934 |
missense |
probably benign |
0.09 |
R5004:Utp20
|
UTSW |
10 |
88748273 |
missense |
probably damaging |
0.98 |
R5037:Utp20
|
UTSW |
10 |
88775330 |
missense |
probably benign |
0.00 |
R5043:Utp20
|
UTSW |
10 |
88798746 |
missense |
possibly damaging |
0.70 |
R5108:Utp20
|
UTSW |
10 |
88768873 |
missense |
probably benign |
0.00 |
R5138:Utp20
|
UTSW |
10 |
88747377 |
missense |
probably damaging |
0.96 |
R5252:Utp20
|
UTSW |
10 |
88750670 |
missense |
probably benign |
0.01 |
R5394:Utp20
|
UTSW |
10 |
88772915 |
nonsense |
probably null |
|
R5470:Utp20
|
UTSW |
10 |
88817896 |
missense |
probably benign |
0.14 |
R5558:Utp20
|
UTSW |
10 |
88751467 |
missense |
probably damaging |
1.00 |
R5678:Utp20
|
UTSW |
10 |
88809117 |
missense |
probably benign |
0.00 |
R5822:Utp20
|
UTSW |
10 |
88817285 |
missense |
probably benign |
0.00 |
R5866:Utp20
|
UTSW |
10 |
88772559 |
missense |
possibly damaging |
0.82 |
R5924:Utp20
|
UTSW |
10 |
88815922 |
missense |
probably benign |
0.00 |
R6026:Utp20
|
UTSW |
10 |
88768679 |
missense |
probably benign |
0.04 |
R6363:Utp20
|
UTSW |
10 |
88757080 |
missense |
probably damaging |
1.00 |
R6434:Utp20
|
UTSW |
10 |
88772533 |
nonsense |
probably null |
|
R6477:Utp20
|
UTSW |
10 |
88768918 |
missense |
probably benign |
0.05 |
R6480:Utp20
|
UTSW |
10 |
88755186 |
critical splice donor site |
probably null |
|
R6989:Utp20
|
UTSW |
10 |
88778240 |
missense |
probably benign |
0.00 |
R7033:Utp20
|
UTSW |
10 |
88754475 |
critical splice donor site |
probably null |
|
R7192:Utp20
|
UTSW |
10 |
88772459 |
missense |
probably benign |
0.09 |
R7236:Utp20
|
UTSW |
10 |
88749342 |
missense |
probably benign |
0.28 |
R7260:Utp20
|
UTSW |
10 |
88751472 |
missense |
probably benign |
0.39 |
R7296:Utp20
|
UTSW |
10 |
88770724 |
missense |
probably benign |
0.21 |
R7317:Utp20
|
UTSW |
10 |
88762935 |
missense |
possibly damaging |
0.83 |
R7318:Utp20
|
UTSW |
10 |
88813949 |
missense |
possibly damaging |
0.89 |
R7330:Utp20
|
UTSW |
10 |
88787562 |
frame shift |
probably null |
|
R7367:Utp20
|
UTSW |
10 |
88795443 |
missense |
probably benign |
0.21 |
R7432:Utp20
|
UTSW |
10 |
88798398 |
missense |
probably benign |
0.00 |
R7447:Utp20
|
UTSW |
10 |
88772492 |
missense |
probably damaging |
1.00 |
R7473:Utp20
|
UTSW |
10 |
88820710 |
splice site |
probably null |
|
R7520:Utp20
|
UTSW |
10 |
88818595 |
missense |
probably damaging |
1.00 |
R7530:Utp20
|
UTSW |
10 |
88753006 |
missense |
probably damaging |
1.00 |
R7539:Utp20
|
UTSW |
10 |
88791745 |
missense |
probably damaging |
1.00 |
R7651:Utp20
|
UTSW |
10 |
88754595 |
missense |
probably benign |
0.41 |
R7728:Utp20
|
UTSW |
10 |
88798341 |
missense |
probably damaging |
1.00 |
R7831:Utp20
|
UTSW |
10 |
88762770 |
nonsense |
probably null |
|
R7833:Utp20
|
UTSW |
10 |
88801136 |
missense |
possibly damaging |
0.92 |
R7909:Utp20
|
UTSW |
10 |
88775330 |
missense |
probably benign |
|
R7956:Utp20
|
UTSW |
10 |
88782614 |
missense |
probably benign |
0.23 |
R7999:Utp20
|
UTSW |
10 |
88770388 |
missense |
probably benign |
|
R8080:Utp20
|
UTSW |
10 |
88782715 |
missense |
possibly damaging |
0.82 |
R8098:Utp20
|
UTSW |
10 |
88752948 |
missense |
probably benign |
0.13 |
R8104:Utp20
|
UTSW |
10 |
88757904 |
missense |
probably damaging |
1.00 |
R8129:Utp20
|
UTSW |
10 |
88792625 |
missense |
probably benign |
0.29 |
R8147:Utp20
|
UTSW |
10 |
88758444 |
missense |
probably benign |
0.02 |
R8199:Utp20
|
UTSW |
10 |
88798475 |
missense |
probably benign |
|
R8222:Utp20
|
UTSW |
10 |
88778372 |
missense |
probably damaging |
1.00 |
R8415:Utp20
|
UTSW |
10 |
88826604 |
critical splice donor site |
probably null |
|
R8466:Utp20
|
UTSW |
10 |
88818503 |
|
|
|
R8505:Utp20
|
UTSW |
10 |
88818008 |
missense |
probably benign |
0.03 |
RF005:Utp20
|
UTSW |
10 |
88825457 |
missense |
probably damaging |
1.00 |
RF024:Utp20
|
UTSW |
10 |
88825457 |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCTGTTGCCACTCATAGAG -3'
(R):5'- GTTCGTGAATAATTGAGTGCTTTCC -3'
Sequencing Primer
(F):5'- GCTGGAGATTAGACCCAGTACC -3'
(R):5'- GAGTGCTTTCCTTATTTGTCATCAAG -3'
|
Posted On | 2015-01-11 |