Incidental Mutation 'R5526:Utp4'
| ID |
431858 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Utp4
|
| Ensembl Gene |
ENSMUSG00000041438 |
| Gene Name |
UTP4 small subunit processome component |
| Synonyms |
Cirh1a, Tex292, TEG-292 |
| MMRRC Submission |
043084-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5526 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
107620268-107649720 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 107644265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 535
(A535T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047629]
|
| AlphaFold |
Q8R2N2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047629
AA Change: A535T
PolyPhen 2
Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000048377
Gene: ENSMUSG00000041438
AA Change: A535T
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
5 |
44 |
6.19e-1 |
SMART |
|
WD40
|
48 |
87 |
1.48e1 |
SMART |
|
WD40
|
90 |
129 |
5.39e-5 |
SMART |
|
WD40
|
134 |
172 |
1.48e-2 |
SMART |
|
WD40
|
185 |
222 |
7.96e0 |
SMART |
|
WD40
|
225 |
264 |
3.55e1 |
SMART |
|
WD40
|
276 |
313 |
7.96e0 |
SMART |
|
Blast:WD40
|
378 |
417 |
2e-19 |
BLAST |
|
WD40
|
426 |
465 |
8.25e0 |
SMART |
|
WD40
|
470 |
512 |
3.99e-1 |
SMART |
|
WD40
|
515 |
554 |
2.22e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212718
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,331,605 (GRCm39) |
M1315K |
probably benign |
Het |
| Abcc4 |
C |
T |
14: 118,868,449 (GRCm39) |
V168I |
probably benign |
Het |
| Add3 |
T |
A |
19: 53,215,038 (GRCm39) |
L71Q |
probably damaging |
Het |
| Agbl5 |
G |
A |
5: 31,051,247 (GRCm39) |
|
probably null |
Het |
| Angpt1 |
A |
G |
15: 42,375,737 (GRCm39) |
L173P |
probably damaging |
Het |
| Crls1 |
T |
A |
2: 132,703,165 (GRCm39) |
M205K |
possibly damaging |
Het |
| Cspg4b |
T |
C |
13: 113,504,427 (GRCm39) |
V1852A |
probably benign |
Het |
| Dhtkd1 |
A |
T |
2: 5,916,662 (GRCm39) |
N671K |
probably damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,642,920 (GRCm39) |
D246V |
probably damaging |
Het |
| Dolk |
G |
A |
2: 30,175,820 (GRCm39) |
A75V |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,779,287 (GRCm39) |
V623E |
probably damaging |
Het |
| Elavl3 |
T |
C |
9: 21,947,622 (GRCm39) |
T106A |
probably benign |
Het |
| Ergic1 |
T |
C |
17: 26,843,652 (GRCm39) |
C41R |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,160,187 (GRCm39) |
I3309F |
possibly damaging |
Het |
| Fbn1 |
C |
A |
2: 125,207,559 (GRCm39) |
R978L |
possibly damaging |
Het |
| Fzd6 |
A |
T |
15: 38,894,559 (GRCm39) |
S242C |
possibly damaging |
Het |
| Galntl6 |
T |
A |
8: 58,926,004 (GRCm39) |
H87L |
probably benign |
Het |
| Gatad2a |
T |
C |
8: 70,388,591 (GRCm39) |
E32G |
probably damaging |
Het |
| Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
| Gm11541 |
G |
T |
11: 94,594,944 (GRCm39) |
H41Q |
unknown |
Het |
| Has3 |
A |
G |
8: 107,600,579 (GRCm39) |
T14A |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,279,869 (GRCm39) |
L1377P |
probably damaging |
Het |
| Lcorl |
T |
C |
5: 45,891,069 (GRCm39) |
N428S |
probably benign |
Het |
| Lipo5 |
A |
T |
19: 33,445,284 (GRCm39) |
V95D |
unknown |
Het |
| Lrp1 |
A |
T |
10: 127,391,593 (GRCm39) |
V2942D |
probably benign |
Het |
| Map1a |
T |
C |
2: 121,136,143 (GRCm39) |
S2082P |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,890,723 (GRCm39) |
S852G |
possibly damaging |
Het |
| Mlh3 |
A |
T |
12: 85,316,147 (GRCm39) |
L13* |
probably null |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Nlrp9c |
T |
A |
7: 26,081,791 (GRCm39) |
N645I |
possibly damaging |
Het |
| Or12d17 |
T |
A |
17: 37,778,003 (GRCm39) |
L302Q |
unknown |
Het |
| Or12e7 |
T |
C |
2: 87,288,109 (GRCm39) |
I200T |
probably benign |
Het |
| Or14j7 |
T |
A |
17: 38,235,383 (GRCm39) |
*309K |
probably null |
Het |
| Or7e166 |
C |
A |
9: 19,624,994 (GRCm39) |
Y290* |
probably null |
Het |
| Or8g52 |
A |
T |
9: 39,630,892 (GRCm39) |
Y123F |
possibly damaging |
Het |
| Pex12 |
A |
G |
11: 83,187,090 (GRCm39) |
V286A |
possibly damaging |
Het |
| Phax |
C |
T |
18: 56,717,382 (GRCm39) |
T275I |
probably damaging |
Het |
| Phf21b |
A |
G |
15: 84,676,006 (GRCm39) |
V335A |
probably benign |
Het |
| Psg18 |
A |
T |
7: 18,083,273 (GRCm39) |
L173H |
probably damaging |
Het |
| Rab3ip |
T |
C |
10: 116,754,834 (GRCm39) |
T209A |
possibly damaging |
Het |
| Ralgapb |
T |
C |
2: 158,274,705 (GRCm39) |
V202A |
probably damaging |
Het |
| Rpn2 |
T |
C |
2: 157,165,187 (GRCm39) |
L611P |
probably damaging |
Het |
| Runx2 |
T |
G |
17: 45,035,749 (GRCm39) |
T148P |
probably damaging |
Het |
| Sbpl |
C |
A |
17: 24,173,623 (GRCm39) |
D50Y |
probably damaging |
Het |
| Scn5a |
G |
A |
9: 119,350,237 (GRCm39) |
P879L |
probably damaging |
Het |
| Sfn |
T |
C |
4: 133,328,915 (GRCm39) |
R56G |
probably damaging |
Het |
| Spata31g1 |
T |
C |
4: 42,972,125 (GRCm39) |
V486A |
possibly damaging |
Het |
| Tas2r138 |
C |
T |
6: 40,589,914 (GRCm39) |
A111T |
probably benign |
Het |
| Tasp1 |
A |
T |
2: 139,850,709 (GRCm39) |
S105T |
probably damaging |
Het |
| Tmem225 |
T |
G |
9: 40,062,002 (GRCm39) |
H205Q |
possibly damaging |
Het |
| Tmprss7 |
A |
G |
16: 45,481,267 (GRCm39) |
S640P |
probably damaging |
Het |
| Vmn1r203 |
A |
T |
13: 22,708,273 (GRCm39) |
D18V |
probably benign |
Het |
| Vmn2r58 |
A |
G |
7: 41,522,069 (GRCm39) |
L9P |
probably benign |
Het |
| Zcchc2 |
T |
A |
1: 105,957,984 (GRCm39) |
C420* |
probably null |
Het |
| Zfp804a |
A |
G |
2: 82,088,934 (GRCm39) |
D921G |
probably benign |
Het |
|
| Other mutations in Utp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01465:Utp4
|
APN |
8 |
107,621,330 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01871:Utp4
|
APN |
8 |
107,638,949 (GRCm39) |
missense |
probably benign |
|
|
IGL02100:Utp4
|
APN |
8 |
107,624,807 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02501:Utp4
|
APN |
8 |
107,632,873 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02948:Utp4
|
APN |
8 |
107,621,273 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL03210:Utp4
|
APN |
8 |
107,642,888 (GRCm39) |
missense |
probably benign |
|
|
Cheyenne_canon
|
UTSW |
8 |
107,638,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4480001:Utp4
|
UTSW |
8 |
107,632,817 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0066:Utp4
|
UTSW |
8 |
107,649,530 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0066:Utp4
|
UTSW |
8 |
107,649,530 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0145:Utp4
|
UTSW |
8 |
107,621,301 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0158:Utp4
|
UTSW |
8 |
107,640,018 (GRCm39) |
missense |
probably null |
|
|
R0360:Utp4
|
UTSW |
8 |
107,625,169 (GRCm39) |
unclassified |
probably benign |
|
|
R0364:Utp4
|
UTSW |
8 |
107,625,169 (GRCm39) |
unclassified |
probably benign |
|
|
R0382:Utp4
|
UTSW |
8 |
107,649,567 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0798:Utp4
|
UTSW |
8 |
107,648,858 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1164:Utp4
|
UTSW |
8 |
107,627,476 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1381:Utp4
|
UTSW |
8 |
107,632,908 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1440:Utp4
|
UTSW |
8 |
107,624,685 (GRCm39) |
unclassified |
probably benign |
|
|
R1711:Utp4
|
UTSW |
8 |
107,645,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1839:Utp4
|
UTSW |
8 |
107,640,086 (GRCm39) |
missense |
probably benign |
|
|
R1903:Utp4
|
UTSW |
8 |
107,638,982 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2060:Utp4
|
UTSW |
8 |
107,625,153 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2938:Utp4
|
UTSW |
8 |
107,649,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5562:Utp4
|
UTSW |
8 |
107,649,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5764:Utp4
|
UTSW |
8 |
107,644,248 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5814:Utp4
|
UTSW |
8 |
107,638,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6310:Utp4
|
UTSW |
8 |
107,645,253 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6478:Utp4
|
UTSW |
8 |
107,631,078 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6523:Utp4
|
UTSW |
8 |
107,625,095 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7329:Utp4
|
UTSW |
8 |
107,640,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7916:Utp4
|
UTSW |
8 |
107,649,497 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8309:Utp4
|
UTSW |
8 |
107,642,853 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9090:Utp4
|
UTSW |
8 |
107,632,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9147:Utp4
|
UTSW |
8 |
107,621,310 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9271:Utp4
|
UTSW |
8 |
107,632,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9290:Utp4
|
UTSW |
8 |
107,642,828 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTATGAGGCCCTGACAACAAC -3'
(R):5'- GTGGGTACTGCTTGCCAATG -3'
Sequencing Primer
(F):5'- GTATGAGGCCCTGACAACAACAAAAG -3'
(R):5'- GGGCCACCCAGGGAAGC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation