Incidental Mutation 'IGL01465:Utp4'
| ID |
88086 |
| 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 # |
IGL01465
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
107620268-107649720 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107621330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 36
(T36A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047629]
[ENSMUST00000169312]
[ENSMUST00000175940]
[ENSMUST00000176090]
[ENSMUST00000176437]
[ENSMUST00000176515]
[ENSMUST00000177068]
[ENSMUST00000212272]
|
| AlphaFold |
Q8R2N2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047629
AA Change: T36A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000048377
Gene: ENSMUSG00000041438
AA Change: T36A
| 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 |
probably benign
Transcript: ENSMUST00000169312
|
| SMART Domains |
Protein: ENSMUSP00000129823
Gene: ENSMUSG00000046691
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
30 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
37 |
246 |
5.18e-7 |
PROSPERO |
|
low complexity region
|
258 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
339 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
344 |
520 |
5.18e-7 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175940
|
| SMART Domains |
Protein: ENSMUSP00000135077
Gene: ENSMUSG00000046691
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ctf8
|
3 |
113 |
4.3e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176090
|
| SMART Domains |
Protein: ENSMUSP00000135221
Gene: ENSMUSG00000046691
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ctf8
|
1 |
94 |
8e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176437
|
| SMART Domains |
Protein: ENSMUSP00000134860
Gene: ENSMUSG00000046691
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176515
|
| SMART Domains |
Protein: ENSMUSP00000135688
Gene: ENSMUSG00000046691
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ctf8
|
1 |
94 |
8e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177068
|
| SMART Domains |
Protein: ENSMUSP00000135029
Gene: ENSMUSG00000046691
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ctf8
|
3 |
113 |
4.3e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212718
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212272
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
G |
6: 23,114,838 (GRCm39) |
|
probably null |
Het |
| Abracl |
A |
T |
10: 17,887,399 (GRCm39) |
I76N |
probably damaging |
Het |
| Akap12 |
C |
T |
10: 4,306,886 (GRCm39) |
T1232I |
probably damaging |
Het |
| Clcn6 |
A |
T |
4: 148,105,908 (GRCm39) |
|
probably benign |
Het |
| Cpsf2 |
C |
A |
12: 101,963,592 (GRCm39) |
D440E |
probably damaging |
Het |
| Csf2ra |
A |
G |
19: 61,214,436 (GRCm39) |
V243A |
possibly damaging |
Het |
| Cyp4f18 |
T |
A |
8: 72,756,288 (GRCm39) |
H96L |
probably benign |
Het |
| Dvl2 |
T |
A |
11: 69,897,180 (GRCm39) |
I294N |
probably damaging |
Het |
| Fbn2 |
T |
A |
18: 58,336,905 (GRCm39) |
N117Y |
probably null |
Het |
| Gdpd3 |
A |
G |
7: 126,367,829 (GRCm39) |
I221V |
possibly damaging |
Het |
| Grk2 |
A |
T |
19: 4,340,886 (GRCm39) |
C221S |
probably damaging |
Het |
| Idi1 |
T |
C |
13: 8,940,415 (GRCm39) |
I199T |
probably benign |
Het |
| Klhl6 |
T |
C |
16: 19,801,572 (GRCm39) |
E61G |
probably damaging |
Het |
| Lig1 |
T |
A |
7: 13,030,317 (GRCm39) |
S431R |
probably benign |
Het |
| Lrg1 |
T |
C |
17: 56,427,705 (GRCm39) |
E89G |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,613,128 (GRCm39) |
K751E |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,384,514 (GRCm39) |
T1128S |
probably benign |
Het |
| Nphs1 |
T |
C |
7: 30,186,139 (GRCm39) |
*1243R |
probably null |
Het |
| Rere |
G |
A |
4: 150,594,451 (GRCm39) |
V354I |
unknown |
Het |
| Safb |
A |
G |
17: 56,909,974 (GRCm39) |
|
probably benign |
Het |
| Slc2a10 |
C |
A |
2: 165,359,597 (GRCm39) |
A487D |
possibly damaging |
Het |
| Slc7a12 |
T |
A |
3: 14,564,383 (GRCm39) |
S85R |
possibly damaging |
Het |
| Sorbs3 |
G |
A |
14: 70,432,958 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,600,135 (GRCm39) |
M19013T |
probably damaging |
Het |
| Vmn2r111 |
A |
T |
17: 22,767,718 (GRCm39) |
F593Y |
probably benign |
Het |
|
| Other mutations in Utp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-11-18 |
Incidental Mutation