Incidental Mutation 'IGL02948:Utp4'
ID |
364831 |
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 # |
IGL02948
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
107620268-107649720 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 107621273 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 17
(S17T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048377
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047629]
[ENSMUST00000169312]
[ENSMUST00000175940]
[ENSMUST00000176090]
[ENSMUST00000176437]
[ENSMUST00000176515]
[ENSMUST00000212272]
[ENSMUST00000177068]
|
AlphaFold |
Q8R2N2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047629
AA Change: S17T
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000048377 Gene: ENSMUSG00000041438 AA Change: S17T
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: ENSMUST00000212272
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212718
|
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 |
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
A |
T |
6: 23,094,318 (GRCm39) |
|
probably benign |
Het |
Ano3 |
A |
T |
2: 110,527,363 (GRCm39) |
|
probably benign |
Het |
Arpp21 |
T |
C |
9: 112,005,268 (GRCm39) |
Y193C |
probably damaging |
Het |
Atm |
G |
A |
9: 53,364,740 (GRCm39) |
|
probably benign |
Het |
Ceacam13 |
C |
T |
7: 17,744,988 (GRCm39) |
|
probably benign |
Het |
Cenpi |
T |
A |
X: 133,250,017 (GRCm39) |
C599S |
possibly damaging |
Het |
Clec7a |
A |
C |
6: 129,442,441 (GRCm39) |
D195E |
possibly damaging |
Het |
Cnksr1 |
T |
C |
4: 133,962,417 (GRCm39) |
|
probably null |
Het |
Cntn1 |
A |
G |
15: 92,143,891 (GRCm39) |
T285A |
probably benign |
Het |
Dusp4 |
G |
T |
8: 35,285,726 (GRCm39) |
G329V |
probably damaging |
Het |
Emb |
C |
A |
13: 117,409,602 (GRCm39) |
|
probably benign |
Het |
Esyt1 |
A |
T |
10: 128,355,040 (GRCm39) |
S496T |
probably damaging |
Het |
Evpl |
T |
C |
11: 116,112,648 (GRCm39) |
T1681A |
probably damaging |
Het |
Fam131b |
A |
C |
6: 42,297,926 (GRCm39) |
|
probably benign |
Het |
Fam162b |
T |
C |
10: 51,463,392 (GRCm39) |
M92V |
probably damaging |
Het |
Fbxw2 |
T |
C |
2: 34,695,723 (GRCm39) |
*455W |
probably null |
Het |
Gm12886 |
A |
G |
4: 121,280,234 (GRCm39) |
L14P |
unknown |
Het |
Gpc4 |
A |
T |
X: 51,163,178 (GRCm39) |
V235E |
probably damaging |
Het |
Gss |
A |
G |
2: 155,419,541 (GRCm39) |
L170P |
probably damaging |
Het |
Hbs1l |
C |
T |
10: 21,217,610 (GRCm39) |
|
probably benign |
Het |
Hhatl |
T |
C |
9: 121,618,857 (GRCm39) |
M92V |
probably benign |
Het |
Hhla1 |
A |
T |
15: 65,814,542 (GRCm39) |
L194H |
probably damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,757 (GRCm39) |
R452S |
probably benign |
Het |
Homer2 |
C |
A |
7: 81,299,393 (GRCm39) |
W24L |
probably damaging |
Het |
Lhcgr |
A |
T |
17: 89,050,050 (GRCm39) |
L492H |
probably damaging |
Het |
Lrba |
C |
A |
3: 86,217,691 (GRCm39) |
|
probably null |
Het |
Lrp2 |
G |
T |
2: 69,318,181 (GRCm39) |
P2090Q |
probably damaging |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Madd |
T |
A |
2: 90,973,172 (GRCm39) |
M1497L |
probably benign |
Het |
Naprt |
C |
T |
15: 75,764,206 (GRCm39) |
R336Q |
probably damaging |
Het |
Nars1 |
A |
G |
18: 64,638,266 (GRCm39) |
C266R |
possibly damaging |
Het |
Or10v1 |
T |
A |
19: 11,874,145 (GRCm39) |
Y253* |
probably null |
Het |
Or5k8 |
T |
A |
16: 58,644,451 (GRCm39) |
Q207L |
probably benign |
Het |
Pard3 |
A |
T |
8: 128,032,975 (GRCm39) |
T190S |
probably benign |
Het |
Pstpip2 |
A |
G |
18: 77,942,507 (GRCm39) |
N86S |
probably benign |
Het |
Ptgfrn |
T |
C |
3: 100,980,135 (GRCm39) |
T402A |
probably benign |
Het |
Rnf130 |
T |
C |
11: 49,943,598 (GRCm39) |
|
probably benign |
Het |
Ropn1l |
T |
C |
15: 31,451,325 (GRCm39) |
D53G |
possibly damaging |
Het |
Rps6ka2 |
G |
A |
17: 7,521,849 (GRCm39) |
|
probably null |
Het |
Rtn2 |
T |
C |
7: 19,027,036 (GRCm39) |
S17P |
probably damaging |
Het |
Shank2 |
T |
C |
7: 143,963,373 (GRCm39) |
V327A |
probably benign |
Het |
Slc22a16 |
T |
G |
10: 40,449,958 (GRCm39) |
Y131* |
probably null |
Het |
Slc28a2 |
T |
A |
2: 122,288,458 (GRCm39) |
M583K |
possibly damaging |
Het |
Slco1a6 |
G |
T |
6: 142,078,961 (GRCm39) |
|
probably null |
Het |
Slfn8 |
T |
A |
11: 82,894,078 (GRCm39) |
I854F |
probably damaging |
Het |
Strip1 |
T |
C |
3: 107,520,582 (GRCm39) |
R823G |
probably benign |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Tcl1b5 |
C |
T |
12: 105,145,273 (GRCm39) |
T79M |
probably benign |
Het |
Tmem104 |
G |
T |
11: 115,088,122 (GRCm39) |
A36S |
probably damaging |
Het |
Trim55 |
T |
A |
3: 19,725,116 (GRCm39) |
L211Q |
probably damaging |
Het |
Trim80 |
T |
C |
11: 115,332,419 (GRCm39) |
W204R |
possibly damaging |
Het |
Ttbk1 |
G |
A |
17: 46,757,256 (GRCm39) |
T1126I |
probably benign |
Het |
Ubqln2 |
C |
T |
X: 152,282,692 (GRCm39) |
Q415* |
probably null |
Het |
Unc13a |
C |
T |
8: 72,103,193 (GRCm39) |
R931H |
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 |
IGL02501:Utp4
|
APN |
8 |
107,632,873 (GRCm39) |
missense |
probably benign |
0.16 |
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 |
2015-12-18 |