Incidental Mutation 'R4200:Hnf4g'
ID |
318712 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hnf4g
|
Ensembl Gene |
ENSMUSG00000017688 |
Gene Name |
hepatocyte nuclear factor 4, gamma |
Synonyms |
NR2A2 |
MMRRC Submission |
041030-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.200)
|
Stock # |
R4200 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
3573090-3724863 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 3716344 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 256
(V256G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104031
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108393]
[ENSMUST00000108394]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108393
AA Change: V212G
PolyPhen 2
Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104030 Gene: ENSMUSG00000017688 AA Change: V212G
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 |
possibly damaging
Transcript: ENSMUST00000108394
AA Change: V256G
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000104031 Gene: ENSMUSG00000017688 AA Change: V256G
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 |
|
Meta Mutation Damage Score |
0.7352 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
100% (40/40) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadac |
T |
A |
3: 59,946,955 (GRCm39) |
Y218N |
probably damaging |
Het |
Aox3 |
A |
G |
1: 58,227,537 (GRCm39) |
E1214G |
probably damaging |
Het |
Arhgap31 |
G |
A |
16: 38,444,275 (GRCm39) |
A194V |
probably damaging |
Het |
Asxl1 |
C |
A |
2: 153,242,026 (GRCm39) |
L859I |
possibly damaging |
Het |
C7 |
A |
G |
15: 5,019,791 (GRCm39) |
|
probably null |
Het |
Col6a3 |
C |
A |
1: 90,729,105 (GRCm39) |
V1279L |
probably benign |
Het |
Dnah3 |
C |
T |
7: 119,522,061 (GRCm39) |
G4033D |
probably damaging |
Het |
Etl4 |
C |
A |
2: 20,786,694 (GRCm39) |
H481Q |
probably damaging |
Het |
Foxg1 |
T |
A |
12: 49,432,082 (GRCm39) |
S272T |
possibly damaging |
Het |
Gm3336 |
A |
T |
8: 71,173,261 (GRCm39) |
D91V |
probably benign |
Het |
Hyou1 |
G |
A |
9: 44,300,156 (GRCm39) |
R815H |
probably damaging |
Het |
Ifi203 |
A |
C |
1: 173,751,681 (GRCm39) |
I380S |
probably damaging |
Het |
Map2 |
C |
T |
1: 66,464,457 (GRCm39) |
R128C |
probably damaging |
Het |
Mboat7 |
C |
A |
7: 3,688,752 (GRCm39) |
A259S |
possibly damaging |
Het |
Mroh8 |
C |
T |
2: 157,083,730 (GRCm39) |
V381M |
probably benign |
Het |
Muc5b |
T |
A |
7: 141,412,662 (GRCm39) |
C1869* |
probably null |
Het |
Nfatc4 |
C |
T |
14: 56,069,489 (GRCm39) |
R672W |
probably damaging |
Het |
Nup210l |
T |
C |
3: 90,027,218 (GRCm39) |
I200T |
probably damaging |
Het |
Olr1 |
A |
G |
6: 129,479,068 (GRCm39) |
V50A |
probably damaging |
Het |
Or1i2 |
A |
T |
10: 78,447,901 (GRCm39) |
D191E |
possibly damaging |
Het |
Or51h7 |
A |
G |
7: 102,591,004 (GRCm39) |
F260S |
probably damaging |
Het |
Pcdhgb5 |
A |
G |
18: 37,865,035 (GRCm39) |
I277V |
possibly damaging |
Het |
Pknox1 |
C |
A |
17: 31,818,584 (GRCm39) |
N272K |
probably benign |
Het |
Psg23 |
T |
C |
7: 18,345,990 (GRCm39) |
D235G |
probably damaging |
Het |
Slc1a1 |
A |
G |
19: 28,878,852 (GRCm39) |
K197R |
probably benign |
Het |
Tgm2 |
C |
A |
2: 157,974,410 (GRCm39) |
R207L |
probably benign |
Het |
Trim29 |
G |
T |
9: 43,222,677 (GRCm39) |
E169* |
probably null |
Het |
Ttc24 |
T |
C |
3: 87,981,824 (GRCm39) |
T81A |
probably benign |
Het |
Ttll1 |
A |
T |
15: 83,376,778 (GRCm39) |
I315N |
probably damaging |
Het |
Ttll12 |
T |
C |
15: 83,461,214 (GRCm39) |
N602D |
probably damaging |
Het |
Vmn1r18 |
A |
T |
6: 57,367,101 (GRCm39) |
V151E |
probably benign |
Het |
Vmn2r100 |
T |
A |
17: 19,742,797 (GRCm39) |
D390E |
probably benign |
Het |
Zfp26 |
T |
C |
9: 20,348,012 (GRCm39) |
T851A |
probably benign |
Het |
Zfp58 |
T |
G |
13: 67,639,440 (GRCm39) |
R350S |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGTATTCTGGCATAGCTTCCC -3'
(R):5'- GGGACACATAGGACACCATCAG -3'
Sequencing Primer
(F):5'- CTTCCCTAACTCAGTGCTATGGAAAG -3'
(R):5'- TAGGACACCATCAGACTAGAGTATG -3'
|
Posted On |
2015-06-10 |