Incidental Mutation 'IGL03040:Hnf4g'
| ID |
408868 |
| 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: 0.200)
|
| Stock # |
IGL03040
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
3573090-3724863 bp(+) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
T to A
at 3699271 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
C |
A |
6: 142,598,323 (GRCm39) |
G672* |
probably null |
Het |
| Adamts19 |
T |
A |
18: 59,036,080 (GRCm39) |
S422T |
probably benign |
Het |
| Anapc7 |
T |
A |
5: 122,571,450 (GRCm39) |
L175* |
probably null |
Het |
| Atp13a2 |
T |
C |
4: 140,733,484 (GRCm39) |
L986P |
probably damaging |
Het |
| Atp6v1d |
C |
A |
12: 78,904,122 (GRCm39) |
|
probably benign |
Het |
| Bnip5 |
A |
G |
17: 29,134,176 (GRCm39) |
M11T |
probably benign |
Het |
| Cldn5 |
A |
G |
16: 18,596,380 (GRCm39) |
Y212C |
probably damaging |
Het |
| Dgki |
C |
A |
6: 37,126,599 (GRCm39) |
|
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,969,672 (GRCm39) |
S80P |
probably damaging |
Het |
| Extl1 |
A |
T |
4: 134,087,940 (GRCm39) |
|
probably benign |
Het |
| Fam237b |
C |
A |
5: 5,625,566 (GRCm39) |
Y87* |
probably null |
Het |
| Fbxo38 |
T |
C |
18: 62,660,323 (GRCm39) |
H296R |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,857,960 (GRCm39) |
I2085V |
probably benign |
Het |
| Gpd2 |
A |
T |
2: 57,245,805 (GRCm39) |
E445V |
probably benign |
Het |
| Grm8 |
C |
T |
6: 28,126,122 (GRCm39) |
M1I |
probably null |
Het |
| Hspg2 |
G |
A |
4: 137,289,136 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
T |
C |
5: 25,515,350 (GRCm39) |
Q2831R |
probably benign |
Het |
| Nat10 |
C |
A |
2: 103,587,610 (GRCm39) |
|
probably benign |
Het |
| Pbx1 |
C |
A |
1: 168,255,515 (GRCm39) |
|
probably benign |
Het |
| Prkg2 |
C |
T |
5: 99,120,966 (GRCm39) |
|
probably null |
Het |
| Scn10a |
T |
A |
9: 119,452,051 (GRCm39) |
I1291F |
probably damaging |
Het |
| Sh3tc2 |
G |
A |
18: 62,122,481 (GRCm39) |
G414D |
probably benign |
Het |
| Syn2 |
C |
T |
6: 115,240,926 (GRCm39) |
T432I |
possibly damaging |
Het |
| Tnpo1 |
T |
C |
13: 98,996,463 (GRCm39) |
E446G |
probably damaging |
Het |
| Topbp1 |
C |
T |
9: 103,205,866 (GRCm39) |
L835F |
possibly damaging |
Het |
| Ubald1 |
G |
T |
16: 4,693,626 (GRCm39) |
S96R |
possibly damaging |
Het |
| Utp6 |
C |
A |
11: 79,826,939 (GRCm39) |
|
probably benign |
Het |
| Vmn1r19 |
C |
A |
6: 57,382,347 (GRCm39) |
P300Q |
unknown |
Het |
| Vmn1r220 |
T |
C |
13: 23,367,952 (GRCm39) |
D248G |
possibly damaging |
Het |
| Zglp1 |
T |
A |
9: 20,974,622 (GRCm39) |
S189C |
probably damaging |
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 |
|
IGL01571:Hnf4g
|
APN |
3 |
3,716,326 (GRCm39) |
splice site |
probably benign |
|
|
IGL01896:Hnf4g
|
APN |
3 |
3,716,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02068:Hnf4g
|
APN |
3 |
3,709,636 (GRCm39) |
missense |
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 |
2016-08-02 |
Incidental Mutation