Incidental Mutation 'R7335:Hnf4g'
| ID |
569417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hnf4g
|
| Ensembl Gene |
ENSMUSG00000017688 |
| Gene Name |
hepatocyte nuclear factor 4, gamma |
| Synonyms |
NR2A2 |
| MMRRC Submission |
045372-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.195)
|
| Stock # |
R7335 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
3573090-3724863 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3717924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 347
(H347R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104030
(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: H347R
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104030
Gene: ENSMUSG00000017688
AA Change: H347R
| 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: H391R
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000104031
Gene: ENSMUSG00000017688
AA Change: H391R
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (56/56) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
A |
G |
11: 50,493,093 (GRCm39) |
S35G |
probably benign |
Het |
| Adcy6 |
G |
T |
15: 98,501,757 (GRCm39) |
Q286K |
probably benign |
Het |
| Agrn |
A |
G |
4: 156,260,989 (GRCm39) |
S676P |
probably damaging |
Het |
| Arpp21 |
A |
T |
9: 112,005,319 (GRCm39) |
|
probably null |
Het |
| Bmal2 |
A |
G |
6: 146,711,217 (GRCm39) |
M74V |
probably benign |
Het |
| C1rb |
A |
T |
6: 124,552,238 (GRCm39) |
I319F |
possibly damaging |
Het |
| C2cd3 |
T |
C |
7: 100,071,810 (GRCm39) |
V629A |
|
Het |
| Cacna1i |
T |
G |
15: 80,259,776 (GRCm39) |
F1287C |
probably damaging |
Het |
| Catspere2 |
A |
G |
1: 177,926,074 (GRCm39) |
I247V |
probably benign |
Het |
| Cd101 |
C |
G |
3: 100,926,045 (GRCm39) |
A229P |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,140,895 (GRCm39) |
D3151G |
probably damaging |
Het |
| Cenpc1 |
C |
A |
5: 86,182,212 (GRCm39) |
K557N |
possibly damaging |
Het |
| Col6a4 |
G |
A |
9: 105,954,091 (GRCm39) |
T416M |
possibly damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,628,451 (GRCm39) |
C164* |
probably null |
Het |
| Dop1b |
A |
G |
16: 93,544,396 (GRCm39) |
E179G |
probably benign |
Het |
| Duoxa2 |
A |
T |
2: 122,131,821 (GRCm39) |
Y170F |
possibly damaging |
Het |
| Fras1 |
A |
G |
5: 96,884,829 (GRCm39) |
K2569R |
possibly damaging |
Het |
| Fsip2 |
C |
A |
2: 82,813,462 (GRCm39) |
H3260Q |
probably benign |
Het |
| Gm3402 |
T |
C |
5: 146,452,043 (GRCm39) |
I121T |
probably benign |
Het |
| Herc3 |
T |
A |
6: 58,853,773 (GRCm39) |
H606Q |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,282,169 (GRCm39) |
V1927A |
possibly damaging |
Het |
| Hs3st3a1 |
A |
G |
11: 64,411,163 (GRCm39) |
T234A |
probably benign |
Het |
| Hyal1 |
G |
T |
9: 107,456,359 (GRCm39) |
V379L |
probably benign |
Het |
| Ighv1-19 |
A |
G |
12: 114,672,571 (GRCm39) |
|
probably benign |
Het |
| Iqcc |
T |
A |
4: 129,510,501 (GRCm39) |
Q338L |
not run |
Het |
| Kdm5b |
T |
C |
1: 134,488,177 (GRCm39) |
V34A |
probably damaging |
Het |
| Lgals4 |
T |
C |
7: 28,540,571 (GRCm39) |
F225L |
probably benign |
Het |
| Lmtk3 |
C |
T |
7: 45,444,581 (GRCm39) |
T1088I |
unknown |
Het |
| Magel2 |
A |
T |
7: 62,030,524 (GRCm39) |
S1143C |
unknown |
Het |
| Mapk4 |
A |
T |
18: 74,070,338 (GRCm39) |
L185Q |
possibly damaging |
Het |
| Mtcl2 |
T |
C |
2: 156,872,925 (GRCm39) |
Q862R |
possibly damaging |
Het |
| Ncam1 |
A |
G |
9: 49,418,211 (GRCm39) |
S1030P |
|
Het |
| Nynrin |
A |
T |
14: 56,101,371 (GRCm39) |
T347S |
probably benign |
Het |
| Pak5 |
T |
C |
2: 135,940,219 (GRCm39) |
T532A |
probably damaging |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,389 (GRCm39) |
E207G |
probably damaging |
Het |
| Pde6h |
T |
C |
6: 136,940,211 (GRCm39) |
W66R |
probably damaging |
Het |
| Pmaip1 |
T |
C |
18: 66,591,885 (GRCm39) |
|
probably null |
Het |
| Prkd3 |
A |
G |
17: 79,261,995 (GRCm39) |
F774S |
probably damaging |
Het |
| Prox1 |
T |
A |
1: 189,894,042 (GRCm39) |
R134S |
possibly damaging |
Het |
| Ptpn22 |
T |
A |
3: 103,793,335 (GRCm39) |
H495Q |
probably damaging |
Het |
| Ptprj |
G |
T |
2: 90,271,126 (GRCm39) |
Q1201K |
probably benign |
Het |
| Rp1l1 |
A |
G |
14: 64,269,447 (GRCm39) |
S1678G |
probably benign |
Het |
| Sez6l |
G |
T |
5: 112,724,678 (GRCm39) |
|
probably null |
Het |
| Sgcg |
T |
A |
14: 61,477,816 (GRCm39) |
Y91F |
probably damaging |
Het |
| Skint2 |
C |
T |
4: 112,481,415 (GRCm39) |
L93F |
probably damaging |
Het |
| Slc22a22 |
A |
T |
15: 57,126,771 (GRCm39) |
D99E |
probably benign |
Het |
| Slco3a1 |
A |
G |
7: 73,934,090 (GRCm39) |
I694T |
probably damaging |
Het |
| Smurf2 |
A |
T |
11: 106,736,911 (GRCm39) |
I305N |
possibly damaging |
Het |
| Stac3 |
T |
A |
10: 127,340,769 (GRCm39) |
V178D |
probably benign |
Het |
| Suclg2 |
G |
A |
6: 95,543,444 (GRCm39) |
A329V |
probably damaging |
Het |
| Suclg2 |
T |
A |
6: 95,543,441 (GRCm39) |
N330I |
probably damaging |
Het |
| Tas2r118 |
C |
T |
6: 23,969,749 (GRCm39) |
C104Y |
probably damaging |
Het |
| Tom1l2 |
T |
G |
11: 60,135,991 (GRCm39) |
E327D |
probably benign |
Het |
| Trit1 |
T |
C |
4: 122,910,572 (GRCm39) |
M57T |
possibly damaging |
Het |
| Vav1 |
G |
A |
17: 57,603,720 (GRCm39) |
S134N |
probably benign |
Het |
| Vmn2r82 |
T |
C |
10: 79,214,722 (GRCm39) |
L235P |
probably damaging |
Het |
| Zfp735 |
T |
A |
11: 73,602,379 (GRCm39) |
V441E |
possibly 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 |
|
|
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 |
|
|
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'- ACATGAAAGTAGTTCTCCCCATTTG -3'
(R):5'- GCACAGCTAACTAGAGGAAATTCTATC -3'
Sequencing Primer
(F):5'- GAAAGTAGTTCTCCCCATTTGTTTTC -3'
(R):5'- GTATGAACCAGTGTGGAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation