Incidental Mutation 'R5814:Utp4'
| ID |
447688 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Utp4
|
| Ensembl Gene |
ENSMUSG00000041438 |
| Gene Name |
UTP4 small subunit processome component |
| Synonyms |
Cirh1a, Tex292, TEG-292 |
| MMRRC Submission |
043396-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5814 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
107620268-107649720 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107638907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 405
(I405K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047629]
|
| AlphaFold |
Q8R2N2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047629
AA Change: I405K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048377
Gene: ENSMUSG00000041438
AA Change: I405K
| 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
|
| Meta Mutation Damage Score |
0.8554 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
91% (52/57) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
C |
7: 130,740,811 (GRCm39) |
D135G |
probably benign |
Het |
| Arrdc3 |
G |
T |
13: 81,038,698 (GRCm39) |
R220L |
possibly damaging |
Het |
| Bace1 |
A |
G |
9: 45,771,562 (GRCm39) |
D458G |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,034,880 (GRCm39) |
Y1360C |
probably benign |
Het |
| Ccnb1-ps |
T |
C |
7: 41,756,522 (GRCm39) |
|
noncoding transcript |
Het |
| Cd209b |
T |
C |
8: 3,973,348 (GRCm39) |
E112G |
probably damaging |
Het |
| Cit |
T |
A |
5: 116,117,478 (GRCm39) |
L1176Q |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,387,607 (GRCm39) |
Y214C |
probably damaging |
Het |
| Clvs2 |
G |
T |
10: 33,404,503 (GRCm39) |
Q238K |
probably benign |
Het |
| Creb3l3 |
C |
T |
10: 80,921,496 (GRCm39) |
V350M |
probably benign |
Het |
| Crot |
A |
C |
5: 9,023,996 (GRCm39) |
D373E |
probably damaging |
Het |
| Cyp4a12b |
T |
A |
4: 115,289,694 (GRCm39) |
I187N |
probably damaging |
Het |
| Degs1l |
G |
A |
1: 180,882,663 (GRCm39) |
V142I |
probably damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,369,102 (GRCm39) |
A4291D |
possibly damaging |
Het |
| Dnmt3b |
A |
T |
2: 153,514,417 (GRCm39) |
E403D |
probably benign |
Het |
| Ect2l |
A |
T |
10: 18,075,757 (GRCm39) |
I43K |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,626,940 (GRCm39) |
|
probably benign |
Het |
| Ep400 |
C |
A |
5: 110,843,444 (GRCm39) |
|
probably null |
Het |
| Erp27 |
A |
T |
6: 136,888,564 (GRCm39) |
V138E |
possibly damaging |
Het |
| Gbp4 |
G |
A |
5: 105,267,785 (GRCm39) |
A487V |
probably benign |
Het |
| Gm10142 |
C |
A |
10: 77,551,957 (GRCm39) |
T106N |
probably damaging |
Het |
| Gxylt2 |
C |
A |
6: 100,710,196 (GRCm39) |
H112Q |
probably damaging |
Het |
| Hexim2 |
G |
A |
11: 103,029,209 (GRCm39) |
R87Q |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,807,305 (GRCm39) |
N399S |
probably benign |
Het |
| Ikbke |
T |
A |
1: 131,199,516 (GRCm39) |
I302F |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kdm1b |
A |
G |
13: 47,216,622 (GRCm39) |
|
probably null |
Het |
| Krtap19-9a |
T |
C |
16: 88,721,002 (GRCm39) |
|
noncoding transcript |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Mmp10 |
G |
A |
9: 7,503,621 (GRCm39) |
A164T |
possibly damaging |
Het |
| Myrip |
G |
A |
9: 120,253,734 (GRCm39) |
G269D |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Paxbp1 |
G |
T |
16: 90,827,384 (GRCm39) |
R420S |
probably damaging |
Het |
| Pcbp2 |
T |
A |
15: 102,391,597 (GRCm39) |
S38R |
probably damaging |
Het |
| Pcf11 |
A |
G |
7: 92,306,922 (GRCm39) |
V1082A |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,269,629 (GRCm39) |
E3305G |
probably damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,074,543 (GRCm39) |
W250R |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 16,993,725 (GRCm39) |
|
probably null |
Het |
| Rpsa |
A |
G |
9: 119,957,551 (GRCm39) |
|
probably benign |
Het |
| Sema3e |
A |
G |
5: 14,275,680 (GRCm39) |
I262V |
probably benign |
Het |
| Setd2 |
T |
A |
9: 110,396,826 (GRCm39) |
L1663* |
probably null |
Het |
| Sh3d19 |
G |
A |
3: 86,033,911 (GRCm39) |
V755I |
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,973,654 (GRCm39) |
V14E |
possibly damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
T |
6: 48,428,818 (GRCm39) |
Q411L |
probably damaging |
Het |
| Sycp1 |
A |
C |
3: 102,803,213 (GRCm39) |
S532R |
probably benign |
Het |
| Taf6l |
C |
A |
19: 8,752,210 (GRCm39) |
A493S |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,570,603 (GRCm39) |
D574G |
probably benign |
Het |
| Ttll10 |
T |
A |
4: 156,132,084 (GRCm39) |
K117N |
possibly damaging |
Het |
| Uqcc5 |
A |
G |
14: 30,846,477 (GRCm39) |
|
probably null |
Het |
| Vmn2r45 |
T |
A |
7: 8,474,475 (GRCm39) |
Y851F |
probably benign |
Het |
| Vps33a |
T |
C |
5: 123,703,119 (GRCm39) |
D168G |
probably 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 |
|
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 |
|
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'- AGAGCACTGAGATTCCTGTCATAG -3'
(R):5'- CTGGCTAACTTTTCACTAAGGATTC -3'
Sequencing Primer
(F):5'- CTTGTTATAAGGTTTGCCAGCC -3'
(R):5'- AAGGATTCTTCCCAATTCATTGC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation