Incidental Mutation 'IGL00832:Hnf4g'
| ID |
11304 |
| 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 # |
IGL00832
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
3573090-3724863 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 3706336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 77
(C77Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104030
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108393]
[ENSMUST00000108394]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108393
AA Change: C77Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104030
Gene: ENSMUSG00000017688
AA Change: C77Y
| 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 damaging
Transcript: ENSMUST00000108394
AA Change: C121Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104031
Gene: ENSMUSG00000017688
AA Change: C121Y
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,209,193 (GRCm39) |
Y407C |
probably damaging |
Het |
| Amtn |
T |
G |
5: 88,532,908 (GRCm39) |
H174Q |
possibly damaging |
Het |
| Cdon |
T |
A |
9: 35,389,412 (GRCm39) |
I839N |
probably damaging |
Het |
| Ces2g |
A |
G |
8: 105,694,471 (GRCm39) |
|
probably benign |
Het |
| Cgas |
A |
T |
9: 78,341,599 (GRCm39) |
C393S |
probably damaging |
Het |
| Colq |
G |
T |
14: 31,250,303 (GRCm39) |
C367* |
probably null |
Het |
| Dop1b |
T |
C |
16: 93,560,289 (GRCm39) |
V745A |
probably benign |
Het |
| E2f8 |
C |
T |
7: 48,517,951 (GRCm39) |
G657D |
probably damaging |
Het |
| Gpcpd1 |
G |
A |
2: 132,388,770 (GRCm39) |
T334M |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,614,558 (GRCm39) |
D494G |
probably damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,253,632 (GRCm39) |
|
probably benign |
Het |
| Gtf3c2 |
G |
A |
5: 31,330,349 (GRCm39) |
|
probably benign |
Het |
| Ido1 |
G |
A |
8: 25,074,575 (GRCm39) |
T265I |
possibly damaging |
Het |
| Ifih1 |
A |
G |
2: 62,475,814 (GRCm39) |
|
probably benign |
Het |
| Itga6 |
A |
G |
2: 71,668,606 (GRCm39) |
|
probably null |
Het |
| Kctd10 |
C |
A |
5: 114,506,997 (GRCm39) |
|
probably null |
Het |
| Ltk |
A |
T |
2: 119,586,086 (GRCm39) |
|
probably benign |
Het |
| Luc7l3 |
T |
C |
11: 94,194,768 (GRCm39) |
D84G |
probably benign |
Het |
| Mc3r |
A |
T |
2: 172,090,948 (GRCm39) |
I57F |
possibly damaging |
Het |
| Mmp1b |
T |
A |
9: 7,387,023 (GRCm39) |
Q63L |
possibly damaging |
Het |
| Ncr1 |
C |
A |
7: 4,344,287 (GRCm39) |
T225N |
possibly damaging |
Het |
| Nf2 |
T |
C |
11: 4,741,123 (GRCm39) |
K364E |
probably benign |
Het |
| Ppl |
A |
T |
16: 4,906,839 (GRCm39) |
L1152H |
probably damaging |
Het |
| Primpol |
A |
G |
8: 47,034,632 (GRCm39) |
V432A |
probably damaging |
Het |
| Rbl2 |
A |
G |
8: 91,812,073 (GRCm39) |
D214G |
probably damaging |
Het |
| Rxfp2 |
A |
T |
5: 149,989,893 (GRCm39) |
M425L |
probably benign |
Het |
| Slc5a3 |
T |
C |
16: 91,874,519 (GRCm39) |
M192T |
probably damaging |
Het |
| Tbx18 |
T |
A |
9: 87,587,714 (GRCm39) |
S468C |
probably damaging |
Het |
| Tex10 |
T |
C |
4: 48,468,864 (GRCm39) |
T104A |
probably benign |
Het |
| Unc13b |
T |
G |
4: 43,258,921 (GRCm39) |
V4153G |
probably damaging |
Het |
| Vmn1r188 |
A |
G |
13: 22,272,351 (GRCm39) |
T102A |
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 |
|
|
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 |
|
|
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 |
2012-12-06 |
Incidental Mutation