Incidental Mutation 'R4803:Gm12258'
ID |
370491 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm12258
|
Ensembl Gene |
ENSMUSG00000072915 |
Gene Name |
predicted gene 12258 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4803 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
58737984-58752782 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 58749856 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 344
(V344I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117644
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093768]
[ENSMUST00000139337]
|
AlphaFold |
Q5NC63 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093768
|
SMART Domains |
Protein: ENSMUSP00000091282 Gene: ENSMUSG00000072915
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
8 |
30 |
5.21e-4 |
SMART |
ZnF_C2H2
|
36 |
58 |
1.03e-2 |
SMART |
ZnF_C2H2
|
64 |
86 |
2.4e-3 |
SMART |
ZnF_C2H2
|
92 |
114 |
4.17e-3 |
SMART |
ZnF_C2H2
|
120 |
142 |
8.34e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139337
AA Change: V344I
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000117644 Gene: ENSMUSG00000072915 AA Change: V344I
Domain | Start | End | E-Value | Type |
KRAB
|
56 |
116 |
1.8e-32 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Anxa8 |
T |
A |
14: 33,814,579 (GRCm39) |
|
probably null |
Het |
Ap4e1 |
A |
G |
2: 126,891,479 (GRCm39) |
I83M |
probably benign |
Het |
Arhgap44 |
G |
C |
11: 64,943,921 (GRCm39) |
P197A |
probably benign |
Het |
Asb1 |
T |
A |
1: 91,480,051 (GRCm39) |
V157E |
probably damaging |
Het |
B3gat1 |
T |
A |
9: 26,666,986 (GRCm39) |
Y73N |
probably benign |
Het |
Bmp8a |
G |
A |
4: 123,218,362 (GRCm39) |
T219I |
possibly damaging |
Het |
Cacna1c |
G |
A |
6: 118,728,502 (GRCm39) |
S285F |
probably damaging |
Het |
Cd163 |
A |
G |
6: 124,289,389 (GRCm39) |
D369G |
probably damaging |
Het |
Ckap2l |
C |
T |
2: 129,111,176 (GRCm39) |
G674R |
probably damaging |
Het |
Cog2 |
A |
G |
8: 125,262,190 (GRCm39) |
Y276C |
probably damaging |
Het |
Col16a1 |
A |
T |
4: 129,948,901 (GRCm39) |
|
probably benign |
Het |
Col5a1 |
G |
A |
2: 27,901,353 (GRCm39) |
G1282R |
unknown |
Het |
Cyp2c29 |
A |
T |
19: 39,313,439 (GRCm39) |
M351L |
probably benign |
Het |
Cyp4f15 |
T |
A |
17: 32,911,554 (GRCm39) |
D145E |
probably benign |
Het |
Defb48 |
T |
C |
14: 63,221,906 (GRCm39) |
Y4C |
unknown |
Het |
Dnaaf3 |
T |
C |
7: 4,529,903 (GRCm39) |
Q292R |
probably benign |
Het |
Dnah11 |
T |
C |
12: 118,091,343 (GRCm39) |
M930V |
possibly damaging |
Het |
Dnaja2 |
A |
T |
8: 86,280,029 (GRCm39) |
I50K |
probably damaging |
Het |
Dnm2 |
A |
G |
9: 21,385,925 (GRCm39) |
N316S |
probably damaging |
Het |
Dusp12 |
A |
G |
1: 170,708,175 (GRCm39) |
Y181H |
possibly damaging |
Het |
Efemp1 |
T |
G |
11: 28,871,795 (GRCm39) |
F437V |
possibly damaging |
Het |
Eps8l3 |
T |
A |
3: 107,798,325 (GRCm39) |
V464D |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,175,886 (GRCm39) |
L1609Q |
probably benign |
Het |
Fbxw24 |
C |
T |
9: 109,453,910 (GRCm39) |
V79I |
probably benign |
Het |
Fgl2 |
A |
T |
5: 21,580,918 (GRCm39) |
Q420L |
probably benign |
Het |
Filip1 |
T |
C |
9: 79,727,396 (GRCm39) |
K408E |
probably benign |
Het |
Fkbp9 |
A |
C |
6: 56,852,692 (GRCm39) |
I471L |
probably benign |
Het |
Fndc1 |
A |
T |
17: 7,972,538 (GRCm39) |
S1465T |
probably damaging |
Het |
Fry |
A |
T |
5: 150,322,998 (GRCm39) |
T1050S |
probably benign |
Het |
Gtf3c1 |
A |
G |
7: 125,262,712 (GRCm39) |
V1049A |
probably damaging |
Het |
Ireb2 |
A |
G |
9: 54,814,098 (GRCm39) |
E829G |
probably benign |
Het |
Itih5 |
G |
A |
2: 10,245,392 (GRCm39) |
V494I |
probably benign |
Het |
Krt75 |
A |
T |
15: 101,476,507 (GRCm39) |
D419E |
probably benign |
Het |
Lama1 |
T |
C |
17: 68,116,266 (GRCm39) |
S2378P |
probably damaging |
Het |
Lcorl |
T |
A |
5: 45,904,623 (GRCm39) |
|
probably null |
Het |
Man2a1 |
A |
T |
17: 64,966,004 (GRCm39) |
H314L |
probably damaging |
Het |
Mthfd1l |
T |
A |
10: 3,957,840 (GRCm39) |
H292Q |
possibly damaging |
Het |
Ocm |
A |
T |
5: 143,960,686 (GRCm39) |
M87K |
possibly damaging |
Het |
Oplah |
A |
G |
15: 76,186,968 (GRCm39) |
Y616H |
probably damaging |
Het |
Or4s2b |
A |
T |
2: 88,508,366 (GRCm39) |
S56C |
probably benign |
Het |
Or52e4 |
A |
C |
7: 104,705,863 (GRCm39) |
I137L |
probably benign |
Het |
Or5b99 |
T |
C |
19: 12,976,533 (GRCm39) |
L61P |
probably damaging |
Het |
Or5p58 |
A |
C |
7: 107,694,666 (GRCm39) |
I37S |
probably damaging |
Het |
Or8c13 |
C |
A |
9: 38,091,546 (GRCm39) |
S191I |
probably damaging |
Het |
Or8g32 |
A |
G |
9: 39,305,932 (GRCm39) |
T282A |
probably benign |
Het |
Pde3a |
G |
A |
6: 141,404,812 (GRCm39) |
V346M |
probably damaging |
Het |
Pdlim1 |
T |
A |
19: 40,231,892 (GRCm39) |
E162V |
possibly damaging |
Het |
Pdzd2 |
C |
G |
15: 12,374,681 (GRCm39) |
S1818T |
probably benign |
Het |
Phf24 |
G |
A |
4: 42,933,731 (GRCm39) |
G38S |
probably damaging |
Het |
Plekhg1 |
T |
C |
10: 3,907,186 (GRCm39) |
V701A |
probably benign |
Het |
Ppard |
C |
G |
17: 28,505,348 (GRCm39) |
R12G |
unknown |
Het |
Ptprz1 |
A |
G |
6: 23,001,545 (GRCm39) |
S1212G |
probably benign |
Het |
Rab3il1 |
C |
A |
19: 10,004,808 (GRCm39) |
Q110K |
possibly damaging |
Het |
Rin3 |
A |
T |
12: 102,327,642 (GRCm39) |
|
probably benign |
Het |
Rps6kb2 |
T |
A |
19: 4,208,677 (GRCm39) |
K280* |
probably null |
Het |
Slc27a6 |
G |
T |
18: 58,705,105 (GRCm39) |
L162F |
possibly damaging |
Het |
Slc6a19 |
T |
A |
13: 73,832,161 (GRCm39) |
I472F |
possibly damaging |
Het |
Spatc1l |
G |
A |
10: 76,405,206 (GRCm39) |
R196Q |
probably damaging |
Het |
Srp72 |
T |
C |
5: 77,132,231 (GRCm39) |
I273T |
probably damaging |
Het |
St8sia1 |
C |
A |
6: 142,813,649 (GRCm39) |
S171I |
probably benign |
Het |
Tas2r136 |
T |
C |
6: 132,754,455 (GRCm39) |
H224R |
probably damaging |
Het |
Tas2r140 |
A |
G |
6: 133,032,743 (GRCm39) |
V5A |
possibly damaging |
Het |
Tbce |
C |
T |
13: 14,194,446 (GRCm39) |
R71H |
probably damaging |
Het |
Tdrd9 |
A |
T |
12: 111,963,269 (GRCm39) |
K115* |
probably null |
Het |
Thada |
T |
A |
17: 84,580,245 (GRCm39) |
H1403L |
probably damaging |
Het |
Thap1 |
AGCAGCATCTGCTCG |
AG |
8: 26,650,882 (GRCm39) |
|
probably null |
Het |
Timm44 |
A |
G |
8: 4,317,932 (GRCm39) |
S159P |
probably damaging |
Het |
Tlk2 |
T |
A |
11: 105,171,926 (GRCm39) |
C699S |
probably damaging |
Het |
Tmem178b |
A |
G |
6: 39,981,160 (GRCm39) |
K65R |
probably damaging |
Het |
Ttc28 |
T |
C |
5: 111,425,329 (GRCm39) |
V1718A |
possibly damaging |
Het |
Ttc6 |
T |
G |
12: 57,775,291 (GRCm39) |
C1662W |
probably damaging |
Het |
Ube2frt |
T |
A |
12: 36,140,729 (GRCm39) |
|
probably benign |
Het |
Unc13a |
C |
A |
8: 72,115,494 (GRCm39) |
|
probably null |
Het |
Vip |
A |
T |
10: 5,594,099 (GRCm39) |
I151F |
probably damaging |
Het |
Vps16 |
C |
T |
2: 130,280,030 (GRCm39) |
P85L |
probably benign |
Het |
Wdsub1 |
T |
C |
2: 59,700,743 (GRCm39) |
|
probably benign |
Het |
Zc3h12c |
T |
C |
9: 52,027,853 (GRCm39) |
D503G |
probably damaging |
Het |
|
Other mutations in Gm12258 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00557:Gm12258
|
APN |
11 |
58,746,896 (GRCm39) |
missense |
probably benign |
|
IGL01391:Gm12258
|
APN |
11 |
58,739,520 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03081:Gm12258
|
APN |
11 |
58,749,085 (GRCm39) |
missense |
probably benign |
0.07 |
R1521:Gm12258
|
UTSW |
11 |
58,750,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R1653:Gm12258
|
UTSW |
11 |
58,749,113 (GRCm39) |
missense |
possibly damaging |
0.68 |
R3895:Gm12258
|
UTSW |
11 |
58,749,375 (GRCm39) |
nonsense |
probably null |
|
R4065:Gm12258
|
UTSW |
11 |
58,749,352 (GRCm39) |
missense |
probably benign |
0.08 |
R4066:Gm12258
|
UTSW |
11 |
58,749,352 (GRCm39) |
missense |
probably benign |
0.08 |
R4747:Gm12258
|
UTSW |
11 |
58,750,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R5554:Gm12258
|
UTSW |
11 |
58,749,294 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5896:Gm12258
|
UTSW |
11 |
58,750,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R5956:Gm12258
|
UTSW |
11 |
58,750,285 (GRCm39) |
missense |
probably benign |
0.02 |
R6277:Gm12258
|
UTSW |
11 |
58,745,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R7166:Gm12258
|
UTSW |
11 |
58,749,299 (GRCm39) |
missense |
|
|
R7728:Gm12258
|
UTSW |
11 |
58,750,518 (GRCm39) |
missense |
unknown |
|
R8161:Gm12258
|
UTSW |
11 |
58,750,138 (GRCm39) |
missense |
unknown |
|
R8268:Gm12258
|
UTSW |
11 |
58,745,084 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8491:Gm12258
|
UTSW |
11 |
58,745,122 (GRCm39) |
missense |
|
|
R8878:Gm12258
|
UTSW |
11 |
58,750,112 (GRCm39) |
missense |
unknown |
|
R9381:Gm12258
|
UTSW |
11 |
58,750,007 (GRCm39) |
missense |
unknown |
|
R9409:Gm12258
|
UTSW |
11 |
58,745,119 (GRCm39) |
missense |
|
|
R9546:Gm12258
|
UTSW |
11 |
58,749,922 (GRCm39) |
missense |
unknown |
|
R9723:Gm12258
|
UTSW |
11 |
58,750,448 (GRCm39) |
missense |
unknown |
|
Z1186:Gm12258
|
UTSW |
11 |
58,750,690 (GRCm39) |
missense |
unknown |
|
Z1186:Gm12258
|
UTSW |
11 |
58,750,014 (GRCm39) |
unclassified |
probably benign |
|
Z1186:Gm12258
|
UTSW |
11 |
58,750,013 (GRCm39) |
unclassified |
probably benign |
|
Z1186:Gm12258
|
UTSW |
11 |
58,749,833 (GRCm39) |
missense |
unknown |
|
Z1186:Gm12258
|
UTSW |
11 |
58,749,776 (GRCm39) |
missense |
unknown |
|
Z1186:Gm12258
|
UTSW |
11 |
58,749,764 (GRCm39) |
missense |
unknown |
|
Z1186:Gm12258
|
UTSW |
11 |
58,749,262 (GRCm39) |
missense |
|
|
Z1186:Gm12258
|
UTSW |
11 |
58,749,126 (GRCm39) |
missense |
|
|
Z1187:Gm12258
|
UTSW |
11 |
58,749,126 (GRCm39) |
missense |
|
|
Z1187:Gm12258
|
UTSW |
11 |
58,749,262 (GRCm39) |
missense |
|
|
Z1187:Gm12258
|
UTSW |
11 |
58,749,764 (GRCm39) |
missense |
unknown |
|
Z1187:Gm12258
|
UTSW |
11 |
58,749,776 (GRCm39) |
missense |
unknown |
|
Z1187:Gm12258
|
UTSW |
11 |
58,749,833 (GRCm39) |
missense |
unknown |
|
Z1187:Gm12258
|
UTSW |
11 |
58,750,013 (GRCm39) |
unclassified |
probably benign |
|
Z1187:Gm12258
|
UTSW |
11 |
58,750,014 (GRCm39) |
unclassified |
probably benign |
|
Z1187:Gm12258
|
UTSW |
11 |
58,750,690 (GRCm39) |
missense |
unknown |
|
Z1188:Gm12258
|
UTSW |
11 |
58,750,690 (GRCm39) |
missense |
unknown |
|
Z1188:Gm12258
|
UTSW |
11 |
58,750,014 (GRCm39) |
unclassified |
probably benign |
|
Z1188:Gm12258
|
UTSW |
11 |
58,750,013 (GRCm39) |
unclassified |
probably benign |
|
Z1188:Gm12258
|
UTSW |
11 |
58,749,833 (GRCm39) |
missense |
unknown |
|
Z1188:Gm12258
|
UTSW |
11 |
58,749,776 (GRCm39) |
missense |
unknown |
|
Z1188:Gm12258
|
UTSW |
11 |
58,749,764 (GRCm39) |
missense |
unknown |
|
Z1188:Gm12258
|
UTSW |
11 |
58,749,262 (GRCm39) |
missense |
|
|
Z1188:Gm12258
|
UTSW |
11 |
58,749,126 (GRCm39) |
missense |
|
|
Z1189:Gm12258
|
UTSW |
11 |
58,750,690 (GRCm39) |
missense |
unknown |
|
Z1189:Gm12258
|
UTSW |
11 |
58,750,014 (GRCm39) |
unclassified |
probably benign |
|
Z1189:Gm12258
|
UTSW |
11 |
58,750,013 (GRCm39) |
unclassified |
probably benign |
|
Z1189:Gm12258
|
UTSW |
11 |
58,749,833 (GRCm39) |
missense |
unknown |
|
Z1189:Gm12258
|
UTSW |
11 |
58,749,776 (GRCm39) |
missense |
unknown |
|
Z1189:Gm12258
|
UTSW |
11 |
58,749,764 (GRCm39) |
missense |
unknown |
|
Z1189:Gm12258
|
UTSW |
11 |
58,749,262 (GRCm39) |
missense |
|
|
Z1189:Gm12258
|
UTSW |
11 |
58,749,126 (GRCm39) |
missense |
|
|
Z1190:Gm12258
|
UTSW |
11 |
58,749,126 (GRCm39) |
missense |
|
|
Z1190:Gm12258
|
UTSW |
11 |
58,749,262 (GRCm39) |
missense |
|
|
Z1190:Gm12258
|
UTSW |
11 |
58,749,764 (GRCm39) |
missense |
unknown |
|
Z1190:Gm12258
|
UTSW |
11 |
58,749,776 (GRCm39) |
missense |
unknown |
|
Z1190:Gm12258
|
UTSW |
11 |
58,749,833 (GRCm39) |
missense |
unknown |
|
Z1190:Gm12258
|
UTSW |
11 |
58,750,013 (GRCm39) |
unclassified |
probably benign |
|
Z1190:Gm12258
|
UTSW |
11 |
58,750,014 (GRCm39) |
unclassified |
probably benign |
|
Z1190:Gm12258
|
UTSW |
11 |
58,750,690 (GRCm39) |
missense |
unknown |
|
Z1191:Gm12258
|
UTSW |
11 |
58,750,690 (GRCm39) |
missense |
unknown |
|
Z1191:Gm12258
|
UTSW |
11 |
58,750,014 (GRCm39) |
unclassified |
probably benign |
|
Z1191:Gm12258
|
UTSW |
11 |
58,750,013 (GRCm39) |
unclassified |
probably benign |
|
Z1191:Gm12258
|
UTSW |
11 |
58,749,833 (GRCm39) |
missense |
unknown |
|
Z1191:Gm12258
|
UTSW |
11 |
58,749,776 (GRCm39) |
missense |
unknown |
|
Z1191:Gm12258
|
UTSW |
11 |
58,749,764 (GRCm39) |
missense |
unknown |
|
Z1191:Gm12258
|
UTSW |
11 |
58,749,262 (GRCm39) |
missense |
|
|
Z1191:Gm12258
|
UTSW |
11 |
58,749,126 (GRCm39) |
missense |
|
|
Z1192:Gm12258
|
UTSW |
11 |
58,750,690 (GRCm39) |
missense |
unknown |
|
Z1192:Gm12258
|
UTSW |
11 |
58,750,014 (GRCm39) |
unclassified |
probably benign |
|
Z1192:Gm12258
|
UTSW |
11 |
58,750,013 (GRCm39) |
unclassified |
probably benign |
|
Z1192:Gm12258
|
UTSW |
11 |
58,749,833 (GRCm39) |
missense |
unknown |
|
Z1192:Gm12258
|
UTSW |
11 |
58,749,776 (GRCm39) |
missense |
unknown |
|
Z1192:Gm12258
|
UTSW |
11 |
58,749,764 (GRCm39) |
missense |
unknown |
|
Z1192:Gm12258
|
UTSW |
11 |
58,749,262 (GRCm39) |
missense |
|
|
Z1192:Gm12258
|
UTSW |
11 |
58,749,126 (GRCm39) |
missense |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- CGGGCACAGGTACAAACTTTTG -3'
(R):5'- ATAGGGTTTCTCAGCTCCCG -3'
Sequencing Primer
(F):5'- GGCACAGGTACAAACTTTTGAATGC -3'
(R):5'- CTCCCGAGGGTGAGTAGACATG -3'
|
Posted On |
2016-02-04 |