Incidental Mutation 'R3105:Hnf4g'
| ID |
262996 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hnf4g
|
| Ensembl Gene |
ENSMUSG00000017688 |
| Gene Name |
hepatocyte nuclear factor 4, gamma |
| Synonyms |
NR2A2 |
| MMRRC Submission |
040579-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R3105 (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 3717916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 388
(S388R)
|
| 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
AA Change: S344R
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000104030
Gene: ENSMUSG00000017688
AA Change: S344R
| 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
AA Change: S388R
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104031
Gene: ENSMUSG00000017688
AA Change: S388R
| 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 |
0.0621 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (44/44) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
T |
C |
1: 75,151,687 (GRCm39) |
|
probably benign |
Het |
| Abhd13 |
T |
C |
8: 10,037,931 (GRCm39) |
V176A |
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,483,281 (GRCm39) |
S242R |
possibly damaging |
Het |
| Baz2a |
AGCGGCGGTACTTGCGGG |
AG |
10: 127,960,946 (GRCm39) |
|
probably null |
Het |
| Ccdc163 |
C |
A |
4: 116,566,697 (GRCm39) |
Q58K |
probably benign |
Het |
| Ccdc191 |
T |
C |
16: 43,751,573 (GRCm39) |
F301S |
probably damaging |
Het |
| Clca4b |
A |
T |
3: 144,622,432 (GRCm39) |
N544K |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,744,024 (GRCm39) |
R515G |
probably damaging |
Het |
| Dgkg |
T |
A |
16: 22,394,091 (GRCm39) |
T321S |
probably damaging |
Het |
| Dip2b |
C |
A |
15: 100,040,018 (GRCm39) |
C138* |
probably null |
Het |
| Dnaja2 |
G |
A |
8: 86,281,857 (GRCm39) |
T7M |
probably damaging |
Het |
| Ezh1 |
A |
C |
11: 101,086,468 (GRCm39) |
C575W |
probably damaging |
Het |
| F11 |
T |
A |
8: 45,698,754 (GRCm39) |
Q463H |
probably damaging |
Het |
| Gfpt1 |
A |
G |
6: 87,034,628 (GRCm39) |
D142G |
probably benign |
Het |
| Gm8730 |
T |
C |
8: 103,591,895 (GRCm39) |
|
noncoding transcript |
Het |
| Grm1 |
A |
G |
10: 10,955,601 (GRCm39) |
S228P |
probably benign |
Het |
| Il1rap |
A |
G |
16: 26,541,502 (GRCm39) |
E581G |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,331,394 (GRCm39) |
Y1585H |
probably benign |
Het |
| Magi3 |
A |
G |
3: 103,958,636 (GRCm39) |
V483A |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,472,756 (GRCm39) |
|
probably null |
Het |
| Or4a78 |
T |
C |
2: 89,497,302 (GRCm39) |
I309M |
probably benign |
Het |
| Osgep |
T |
C |
14: 51,154,286 (GRCm39) |
T225A |
probably benign |
Het |
| Otof |
A |
G |
5: 30,539,145 (GRCm39) |
Y1090H |
probably benign |
Het |
| Pgr |
T |
A |
9: 8,958,397 (GRCm39) |
F801L |
probably benign |
Het |
| Pomk |
A |
C |
8: 26,472,942 (GRCm39) |
L337R |
probably damaging |
Het |
| Prune2 |
T |
A |
19: 17,096,520 (GRCm39) |
S675T |
probably damaging |
Het |
| Rnpepl1 |
C |
T |
1: 92,844,102 (GRCm39) |
L278F |
probably damaging |
Het |
| Sars1 |
C |
T |
3: 108,336,621 (GRCm39) |
R302H |
probably damaging |
Het |
| Sbspon |
T |
C |
1: 15,962,806 (GRCm39) |
E24G |
probably benign |
Het |
| Sec16a |
G |
A |
2: 26,328,433 (GRCm39) |
P1194L |
probably benign |
Het |
| Sfmbt1 |
G |
A |
14: 30,539,753 (GRCm39) |
C847Y |
probably damaging |
Het |
| Slc22a29 |
T |
C |
19: 8,147,337 (GRCm39) |
T342A |
probably benign |
Het |
| Spaca1 |
G |
A |
4: 34,028,468 (GRCm39) |
T283M |
probably damaging |
Het |
| Stradb |
C |
A |
1: 59,031,450 (GRCm39) |
H212Q |
possibly damaging |
Het |
| Taf6l |
C |
T |
19: 8,756,219 (GRCm39) |
S208N |
probably damaging |
Het |
| Tkfc |
G |
T |
19: 10,574,357 (GRCm39) |
C198* |
probably null |
Het |
| Tm4sf4 |
C |
T |
3: 57,345,043 (GRCm39) |
R150C |
possibly damaging |
Het |
| Tmem212 |
T |
C |
3: 27,939,019 (GRCm39) |
S156G |
probably damaging |
Het |
| Tmigd1 |
A |
G |
11: 76,801,124 (GRCm39) |
T204A |
possibly damaging |
Het |
| Tsga10 |
G |
A |
1: 37,840,872 (GRCm39) |
L445F |
probably damaging |
Het |
| Urb1 |
C |
T |
16: 90,592,331 (GRCm39) |
V310I |
probably damaging |
Het |
| Vmn1r205 |
T |
C |
13: 22,777,109 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTAACATGAAAGTAGTTCTCCCC -3'
(R):5'- GCACAGCTAACTAGAGGAAATTC -3'
Sequencing Primer
(F):5'- CATGAAAGTAGTTCTCCCCATTTG -3'
(R):5'- TGAACCAGTGTGGACATG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation