Incidental Mutation 'R5562:Utp4'
ID |
436659 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Utp4
|
Ensembl Gene |
ENSMUSG00000041438 |
Gene Name |
UTP4 small subunit processome component |
Synonyms |
Cirh1a, Tex292, TEG-292 |
MMRRC Submission |
043119-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5562 (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 107649557 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 669
(D669N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048377
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047629]
|
AlphaFold |
Q8R2N2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047629
AA Change: D669N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000048377 Gene: ENSMUSG00000041438 AA Change: D669N
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: ENSMUST00000098432
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212718
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1a7 |
G |
A |
19: 20,679,628 (GRCm39) |
Q383* |
probably null |
Het |
Alkbh3 |
A |
T |
2: 93,826,724 (GRCm39) |
|
probably null |
Het |
Amotl1 |
G |
A |
9: 14,486,593 (GRCm39) |
P434S |
possibly damaging |
Het |
Arfgef1 |
T |
C |
1: 10,214,971 (GRCm39) |
E1641G |
probably damaging |
Het |
Arih2 |
T |
C |
9: 108,484,546 (GRCm39) |
T422A |
probably damaging |
Het |
C7 |
A |
T |
15: 5,061,397 (GRCm39) |
Y317* |
probably null |
Het |
Car4 |
A |
T |
11: 84,854,924 (GRCm39) |
M91L |
probably benign |
Het |
Ccdc7a |
T |
C |
8: 129,785,266 (GRCm39) |
D98G |
possibly damaging |
Het |
Cdc25b |
A |
G |
2: 131,036,678 (GRCm39) |
M493V |
probably damaging |
Het |
Cdhr3 |
C |
G |
12: 33,101,054 (GRCm39) |
R452T |
probably benign |
Het |
Col6a2 |
G |
A |
10: 76,435,509 (GRCm39) |
Q909* |
probably null |
Het |
Cyp2j8 |
A |
G |
4: 96,358,890 (GRCm39) |
I343T |
probably damaging |
Het |
Dcstamp |
G |
A |
15: 39,617,798 (GRCm39) |
C69Y |
possibly damaging |
Het |
Dnaaf8 |
C |
A |
16: 4,791,940 (GRCm39) |
|
noncoding transcript |
Het |
Efhc1 |
C |
T |
1: 21,043,104 (GRCm39) |
T341I |
probably damaging |
Het |
Elovl2 |
A |
G |
13: 41,338,772 (GRCm39) |
*276Q |
probably null |
Het |
Fnip1 |
T |
A |
11: 54,380,168 (GRCm39) |
|
probably null |
Het |
Foxc1 |
A |
G |
13: 31,991,573 (GRCm39) |
H128R |
probably damaging |
Het |
Gpr107 |
C |
T |
2: 31,042,375 (GRCm39) |
A2V |
probably damaging |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Kif15 |
A |
T |
9: 122,807,081 (GRCm39) |
Q44H |
probably damaging |
Het |
Masp1 |
T |
C |
16: 23,283,917 (GRCm39) |
|
probably null |
Het |
Muc5b |
T |
C |
7: 141,400,975 (GRCm39) |
I530T |
unknown |
Het |
Ncoa4-ps |
T |
A |
12: 119,225,957 (GRCm39) |
|
noncoding transcript |
Het |
Nherf2 |
A |
G |
17: 24,860,798 (GRCm39) |
V137A |
probably benign |
Het |
Nudt7 |
C |
A |
8: 114,874,723 (GRCm39) |
A93D |
probably damaging |
Het |
Or5w1b |
T |
C |
2: 87,476,063 (GRCm39) |
I135V |
probably benign |
Het |
Pcdha8 |
A |
G |
18: 37,126,024 (GRCm39) |
T169A |
possibly damaging |
Het |
Prnp |
A |
G |
2: 131,778,951 (GRCm39) |
D201G |
probably damaging |
Het |
Serinc1 |
G |
A |
10: 57,400,147 (GRCm39) |
Q167* |
probably null |
Het |
Slc13a5 |
A |
G |
11: 72,152,865 (GRCm39) |
V35A |
probably damaging |
Het |
Slc30a6 |
C |
T |
17: 74,719,700 (GRCm39) |
T220I |
possibly damaging |
Het |
Slc7a7 |
T |
A |
14: 54,646,269 (GRCm39) |
M65L |
probably benign |
Het |
Speg |
T |
A |
1: 75,403,700 (GRCm39) |
L2627Q |
probably damaging |
Het |
Tank |
A |
G |
2: 61,480,552 (GRCm39) |
T363A |
possibly damaging |
Het |
Taok3 |
T |
A |
5: 117,389,029 (GRCm39) |
L478Q |
probably damaging |
Het |
Trim55 |
A |
T |
3: 19,713,317 (GRCm39) |
M123L |
probably benign |
Het |
Trpm2 |
A |
G |
10: 77,795,773 (GRCm39) |
V118A |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,600,803 (GRCm39) |
Y17114N |
probably damaging |
Het |
Unc5c |
A |
G |
3: 141,474,291 (GRCm39) |
T214A |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,308,414 (GRCm39) |
V2021E |
probably damaging |
Het |
Zfp560 |
G |
T |
9: 20,261,883 (GRCm39) |
Y89* |
probably null |
Het |
Zfp64 |
A |
G |
2: 168,767,642 (GRCm39) |
S657P |
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 |
R5526:Utp4
|
UTSW |
8 |
107,644,265 (GRCm39) |
missense |
possibly damaging |
0.70 |
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'- TGAGCCAACTCCACTACAGG -3'
(R):5'- ATGACCTTCATGCCACTGC -3'
Sequencing Primer
(F):5'- AACTCCACTACAGGGCTGG -3'
(R):5'- AGGAAATCTGTGCTCATTCTTTTAG -3'
|
Posted On |
2016-10-24 |