Incidental Mutation 'IGL01571:Hnf4g'
| ID |
93312 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hnf4g
|
| Ensembl Gene |
ENSMUSG00000017688 |
| Gene Name |
hepatocyte nuclear factor 4, gamma |
| Synonyms |
NR2A2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.195)
|
| Stock # |
IGL01571
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
3573090-3724863 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 3716326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104031
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108393]
[ENSMUST00000108394]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108393
|
| SMART Domains |
Protein: ENSMUSP00000104030
Gene: ENSMUSG00000017688
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
9 |
80 |
6.51e-35 |
SMART |
|
low complexity region
|
118 |
125 |
N/A |
INTRINSIC |
|
HOLI
|
141 |
299 |
7.29e-47 |
SMART |
|
low complexity region
|
334 |
345 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108394
|
| SMART Domains |
Protein: ENSMUSP00000104031
Gene: ENSMUSG00000017688
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
63 |
134 |
6.51e-35 |
SMART |
|
low complexity region
|
172 |
179 |
N/A |
INTRINSIC |
|
HOLI
|
195 |
353 |
7.29e-47 |
SMART |
|
low complexity region
|
388 |
399 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are less inclined to build nests, spend more time in a passive state during the forced swim test, and display a reduction in energy expenditure and night time activity that results in increased body weight despite adecreased intake of food and water. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AB124611 |
T |
A |
9: 21,450,377 (GRCm39) |
|
probably benign |
Het |
| Cep164 |
T |
C |
9: 45,705,636 (GRCm39) |
Q127R |
possibly damaging |
Het |
| Ces1f |
T |
A |
8: 93,984,996 (GRCm39) |
M444L |
probably benign |
Het |
| Chd5 |
T |
A |
4: 152,468,572 (GRCm39) |
|
probably benign |
Het |
| Cpd |
T |
A |
11: 76,673,122 (GRCm39) |
Y1341F |
probably damaging |
Het |
| Cryz |
T |
C |
3: 154,327,380 (GRCm39) |
I268T |
probably damaging |
Het |
| Csnk2a1 |
G |
A |
2: 152,117,326 (GRCm39) |
R278H |
probably damaging |
Het |
| Cyp4a12b |
A |
G |
4: 115,295,354 (GRCm39) |
I487V |
probably benign |
Het |
| Dnajb5 |
T |
C |
4: 42,956,516 (GRCm39) |
|
probably benign |
Het |
| Dxo |
A |
T |
17: 35,058,016 (GRCm39) |
H214L |
probably damaging |
Het |
| Etfb |
T |
C |
7: 43,102,383 (GRCm39) |
|
probably null |
Het |
| G6pc2 |
G |
A |
2: 69,053,311 (GRCm39) |
V122I |
probably damaging |
Het |
| Gm5431 |
A |
T |
11: 48,785,540 (GRCm39) |
D278E |
probably benign |
Het |
| Gstt2 |
C |
T |
10: 75,670,005 (GRCm39) |
|
probably benign |
Het |
| Ifi44 |
T |
C |
3: 151,451,174 (GRCm39) |
D259G |
probably damaging |
Het |
| Klk1 |
T |
C |
7: 43,878,020 (GRCm39) |
V92A |
probably damaging |
Het |
| Lypla1 |
T |
C |
1: 4,915,211 (GRCm39) |
I222T |
probably benign |
Het |
| Nbeal2 |
T |
C |
9: 110,461,826 (GRCm39) |
N1510D |
possibly damaging |
Het |
| Ndufaf7 |
A |
G |
17: 79,251,281 (GRCm39) |
R229G |
probably damaging |
Het |
| Nphp4 |
G |
A |
4: 152,640,839 (GRCm39) |
V1069M |
probably benign |
Het |
| Nsd2 |
A |
G |
5: 34,022,031 (GRCm39) |
H528R |
probably benign |
Het |
| Or10p21 |
A |
T |
10: 128,847,696 (GRCm39) |
I181F |
probably damaging |
Het |
| Or4k48 |
C |
A |
2: 111,475,725 (GRCm39) |
V206L |
probably benign |
Het |
| Or7a39 |
A |
G |
10: 78,715,671 (GRCm39) |
I222V |
possibly damaging |
Het |
| Pigh |
A |
C |
12: 79,132,634 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
A |
T |
5: 32,986,150 (GRCm39) |
M1115K |
probably benign |
Het |
| Psg21 |
T |
C |
7: 18,388,750 (GRCm39) |
D114G |
probably damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Pygb |
T |
C |
2: 150,672,393 (GRCm39) |
S831P |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,736,647 (GRCm39) |
D2260V |
probably damaging |
Het |
| Sgo2a |
T |
C |
1: 58,057,133 (GRCm39) |
S1106P |
probably damaging |
Het |
| Slc5a5 |
G |
A |
8: 71,343,976 (GRCm39) |
|
probably benign |
Het |
| Tekt4 |
A |
G |
17: 25,695,358 (GRCm39) |
D397G |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,770,097 (GRCm39) |
|
probably benign |
Het |
| Upf2 |
T |
C |
2: 6,023,750 (GRCm39) |
|
probably benign |
Het |
| Usp17lb |
A |
T |
7: 104,489,588 (GRCm39) |
N445K |
possibly damaging |
Het |
| Vmn2r111 |
A |
G |
17: 22,790,373 (GRCm39) |
V211A |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,681,366 (GRCm39) |
I91M |
probably damaging |
Het |
| Vps13b |
C |
T |
15: 35,877,635 (GRCm39) |
|
probably benign |
Het |
| Zc3hc1 |
G |
A |
6: 30,390,862 (GRCm39) |
T47I |
probably benign |
Het |
|
| Other mutations in Hnf4g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Hnf4g
|
APN |
3 |
3,713,142 (GRCm39) |
missense |
probably benign |
|
|
IGL00832:Hnf4g
|
APN |
3 |
3,706,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01896:Hnf4g
|
APN |
3 |
3,716,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02068:Hnf4g
|
APN |
3 |
3,709,636 (GRCm39) |
missense |
probably benign |
|
|
IGL03040:Hnf4g
|
APN |
3 |
3,699,271 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03097:Hnf4g
|
UTSW |
3 |
3,716,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0124:Hnf4g
|
UTSW |
3 |
3,708,142 (GRCm39) |
splice site |
probably benign |
|
|
R0477:Hnf4g
|
UTSW |
3 |
3,716,851 (GRCm39) |
splice site |
probably benign |
|
|
R0512:Hnf4g
|
UTSW |
3 |
3,716,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0744:Hnf4g
|
UTSW |
3 |
3,716,689 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1323:Hnf4g
|
UTSW |
3 |
3,699,281 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1323:Hnf4g
|
UTSW |
3 |
3,699,281 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1656:Hnf4g
|
UTSW |
3 |
3,718,011 (GRCm39) |
missense |
probably benign |
|
|
R1982:Hnf4g
|
UTSW |
3 |
3,703,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2336:Hnf4g
|
UTSW |
3 |
3,706,284 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3104:Hnf4g
|
UTSW |
3 |
3,717,916 (GRCm39) |
missense |
probably benign |
0.42 |
|
R3105:Hnf4g
|
UTSW |
3 |
3,717,916 (GRCm39) |
missense |
probably benign |
0.42 |
|
R3106:Hnf4g
|
UTSW |
3 |
3,717,916 (GRCm39) |
missense |
probably benign |
0.42 |
|
R3843:Hnf4g
|
UTSW |
3 |
3,716,362 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4200:Hnf4g
|
UTSW |
3 |
3,716,344 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4248:Hnf4g
|
UTSW |
3 |
3,717,909 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4418:Hnf4g
|
UTSW |
3 |
3,713,154 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4756:Hnf4g
|
UTSW |
3 |
3,708,069 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4871:Hnf4g
|
UTSW |
3 |
3,716,448 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5022:Hnf4g
|
UTSW |
3 |
3,709,647 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5023:Hnf4g
|
UTSW |
3 |
3,709,647 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5088:Hnf4g
|
UTSW |
3 |
3,722,181 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5604:Hnf4g
|
UTSW |
3 |
3,722,186 (GRCm39) |
nonsense |
probably null |
|
|
R6746:Hnf4g
|
UTSW |
3 |
3,722,170 (GRCm39) |
nonsense |
probably null |
|
|
R7088:Hnf4g
|
UTSW |
3 |
3,713,185 (GRCm39) |
splice site |
probably null |
|
|
R7335:Hnf4g
|
UTSW |
3 |
3,717,924 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8153:Hnf4g
|
UTSW |
3 |
3,699,250 (GRCm39) |
start gained |
probably benign |
|
|
R8182:Hnf4g
|
UTSW |
3 |
3,716,679 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8676:Hnf4g
|
UTSW |
3 |
3,708,133 (GRCm39) |
splice site |
probably benign |
|
|
R9008:Hnf4g
|
UTSW |
3 |
3,708,096 (GRCm39) |
missense |
probably benign |
|
|
R9153:Hnf4g
|
UTSW |
3 |
3,573,378 (GRCm39) |
start gained |
probably benign |
|
|
R9671:Hnf4g
|
UTSW |
3 |
3,703,273 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9802:Hnf4g
|
UTSW |
3 |
3,699,404 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation