Incidental Mutation 'IGL02501:Utp4'
ID |
296039 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Utp4
|
Ensembl Gene |
ENSMUSG00000041438 |
Gene Name |
UTP4 small subunit processome component |
Synonyms |
Cirh1a, Tex292, TEG-292 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02501
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
107620268-107649720 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 107632873 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 285
(H285Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048377
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047629]
|
AlphaFold |
Q8R2N2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047629
AA Change: H285Q
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000048377 Gene: ENSMUSG00000041438 AA Change: H285Q
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 |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adad1 |
A |
T |
3: 37,137,489 (GRCm39) |
I307F |
probably damaging |
Het |
Adam15 |
G |
A |
3: 89,247,769 (GRCm39) |
A789V |
possibly damaging |
Het |
Bspry |
A |
G |
4: 62,414,672 (GRCm39) |
T422A |
probably benign |
Het |
Btnl6 |
T |
A |
17: 34,734,648 (GRCm39) |
D38V |
possibly damaging |
Het |
Cd59b |
G |
A |
2: 103,909,273 (GRCm39) |
C18Y |
probably damaging |
Het |
Clstn1 |
T |
G |
4: 149,716,299 (GRCm39) |
I255R |
probably damaging |
Het |
Dpp10 |
A |
G |
1: 123,613,999 (GRCm39) |
L99P |
possibly damaging |
Het |
Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
Emc1 |
A |
T |
4: 139,098,295 (GRCm39) |
T759S |
probably benign |
Het |
Fndc1 |
C |
T |
17: 7,984,230 (GRCm39) |
G1232E |
unknown |
Het |
Gjb3 |
C |
T |
4: 127,220,157 (GRCm39) |
G125D |
probably damaging |
Het |
Helb |
A |
G |
10: 119,938,693 (GRCm39) |
S594P |
possibly damaging |
Het |
Hycc2 |
C |
A |
1: 58,579,350 (GRCm39) |
R229L |
probably damaging |
Het |
Ildr1 |
T |
C |
16: 36,542,712 (GRCm39) |
S371P |
probably damaging |
Het |
Kif1b |
T |
A |
4: 149,299,433 (GRCm39) |
R946W |
probably damaging |
Het |
Lrp12 |
T |
C |
15: 39,741,300 (GRCm39) |
T472A |
probably damaging |
Het |
Lyst |
A |
G |
13: 13,886,230 (GRCm39) |
D3031G |
probably benign |
Het |
Med12l |
A |
T |
3: 59,169,397 (GRCm39) |
T1596S |
possibly damaging |
Het |
Myom1 |
A |
C |
17: 71,379,076 (GRCm39) |
|
probably null |
Het |
Nhlrc2 |
T |
A |
19: 56,559,086 (GRCm39) |
Y190* |
probably null |
Het |
Nol4 |
A |
T |
18: 22,956,398 (GRCm39) |
N115K |
probably damaging |
Het |
Nrg1 |
T |
A |
8: 32,308,291 (GRCm39) |
|
probably null |
Het |
Or7g26 |
T |
A |
9: 19,229,999 (GRCm39) |
H56Q |
probably damaging |
Het |
Oxld1 |
A |
C |
11: 120,347,714 (GRCm39) |
L161R |
probably damaging |
Het |
Phex |
A |
G |
X: 155,969,271 (GRCm39) |
S568P |
probably damaging |
Het |
Pkd1 |
T |
G |
17: 24,788,673 (GRCm39) |
S810R |
probably benign |
Het |
Plin2 |
G |
T |
4: 86,582,723 (GRCm39) |
C84* |
probably null |
Het |
Ppfia3 |
A |
T |
7: 45,004,362 (GRCm39) |
|
probably benign |
Het |
Ptpn14 |
A |
G |
1: 189,582,587 (GRCm39) |
N478S |
probably benign |
Het |
Pygl |
A |
G |
12: 70,237,908 (GRCm39) |
M801T |
probably benign |
Het |
Recql5 |
A |
G |
11: 115,785,917 (GRCm39) |
Y619H |
probably benign |
Het |
Scn3a |
C |
A |
2: 65,356,899 (GRCm39) |
D182Y |
possibly damaging |
Het |
Serpinb6e |
T |
C |
13: 34,016,785 (GRCm39) |
E316G |
possibly damaging |
Het |
Shroom4 |
A |
G |
X: 6,495,998 (GRCm39) |
E386G |
possibly damaging |
Het |
Slc4a2 |
A |
G |
5: 24,634,432 (GRCm39) |
S24G |
probably benign |
Het |
Slc4a4 |
A |
G |
5: 89,277,508 (GRCm39) |
I282V |
probably benign |
Het |
Slc8b1 |
C |
T |
5: 120,658,918 (GRCm39) |
R148C |
probably damaging |
Het |
Stag2 |
A |
G |
X: 41,360,202 (GRCm39) |
|
probably benign |
Het |
Styx |
T |
A |
14: 45,609,922 (GRCm39) |
H195Q |
probably benign |
Het |
Sufu |
A |
G |
19: 46,439,349 (GRCm39) |
I190V |
probably benign |
Het |
Svep1 |
A |
G |
4: 58,145,341 (GRCm39) |
|
probably benign |
Het |
Tbc1d31 |
T |
C |
15: 57,801,344 (GRCm39) |
I293T |
probably benign |
Het |
Timp4 |
T |
A |
6: 115,223,444 (GRCm39) |
I160F |
probably damaging |
Het |
Tmem87a |
A |
T |
2: 120,234,534 (GRCm39) |
V3E |
probably damaging |
Het |
Vrk1 |
T |
G |
12: 106,028,912 (GRCm39) |
S305A |
probably benign |
Het |
Zfp329 |
G |
T |
7: 12,545,106 (GRCm39) |
H139Q |
possibly damaging |
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 |
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 |
R5526:Utp4
|
UTSW |
8 |
107,644,265 (GRCm39) |
missense |
possibly damaging |
0.70 |
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 |
|
Posted On |
2015-04-16 |