Incidental Mutation 'R5896:Gm12258'
| ID |
457536 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm12258
|
| Ensembl Gene |
ENSMUSG00000072915 |
| Gene Name |
predicted gene 12258 |
| Synonyms |
|
| MMRRC Submission |
044095-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5896 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
58737984-58752782 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 58750457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 544
(C544Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117644
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093768]
[ENSMUST00000139337]
|
| AlphaFold |
Q5NC63 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093768
AA Change: C66Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091282
Gene: ENSMUSG00000072915
AA Change: C66Y
| 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 damaging
Transcript: ENSMUST00000139337
AA Change: C544Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117644
Gene: ENSMUSG00000072915
AA Change: C544Y
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
56 |
116 |
1.8e-32 |
SMART |
|
| Meta Mutation Damage Score |
0.1937 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.5%
|
| Validation Efficiency |
99% (86/87) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061N02Rik |
A |
T |
16: 88,504,321 (GRCm39) |
S159T |
probably damaging |
Het |
| 2610028H24Rik |
T |
A |
10: 76,288,664 (GRCm39) |
M53K |
probably benign |
Het |
| 3425401B19Rik |
G |
A |
14: 32,383,632 (GRCm39) |
Q778* |
probably null |
Het |
| Abhd16a |
T |
A |
17: 35,310,701 (GRCm39) |
|
probably benign |
Het |
| Acp6 |
A |
G |
3: 97,075,810 (GRCm39) |
K226R |
probably benign |
Het |
| Ankfy1 |
A |
G |
11: 72,650,811 (GRCm39) |
D998G |
probably damaging |
Het |
| Apbb1 |
G |
T |
7: 105,223,432 (GRCm39) |
P60T |
probably damaging |
Het |
| Apol9a |
T |
A |
15: 77,288,705 (GRCm39) |
I221F |
probably benign |
Het |
| Arhgap29 |
A |
G |
3: 121,805,736 (GRCm39) |
E947G |
possibly damaging |
Het |
| B430218F22Rik |
A |
T |
13: 118,523,934 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
ACCCCC |
ACCCCCCC |
14: 55,741,456 (GRCm39) |
|
probably null |
Het |
| Ccdc69 |
C |
T |
11: 54,943,716 (GRCm39) |
|
probably null |
Het |
| Ccdc93 |
G |
T |
1: 121,390,849 (GRCm39) |
V274L |
possibly damaging |
Het |
| Cdc25a |
A |
G |
9: 109,713,433 (GRCm39) |
D191G |
probably benign |
Het |
| Cimip2a |
A |
T |
2: 25,110,578 (GRCm39) |
M129L |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,182,373 (GRCm39) |
|
probably null |
Het |
| Crebzf |
TGGAGGAGGAGGAGGAGGA |
TGGAGGAGGAGGAGGA |
7: 90,092,479 (GRCm39) |
|
probably benign |
Het |
| Csde1 |
T |
C |
3: 102,947,859 (GRCm39) |
|
probably benign |
Het |
| Ctdp1 |
A |
G |
18: 80,502,003 (GRCm39) |
L177P |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,272,206 (GRCm39) |
H1003Q |
probably benign |
Het |
| Epb41l2 |
T |
A |
10: 25,369,494 (GRCm39) |
N604K |
probably damaging |
Het |
| Fig4 |
T |
A |
10: 41,130,881 (GRCm39) |
N465Y |
possibly damaging |
Het |
| Gemin7 |
G |
A |
7: 19,299,223 (GRCm39) |
S124F |
probably damaging |
Het |
| Gli3 |
G |
A |
13: 15,900,765 (GRCm39) |
R1384K |
probably benign |
Het |
| Grm1 |
C |
T |
10: 10,956,294 (GRCm39) |
|
probably benign |
Het |
| H2-T15 |
T |
A |
17: 36,367,236 (GRCm39) |
M329L |
probably benign |
Het |
| Hps4 |
C |
T |
5: 112,517,351 (GRCm39) |
T246I |
probably benign |
Het |
| Ifngr2 |
A |
T |
16: 91,358,653 (GRCm39) |
E284D |
possibly damaging |
Het |
| Impdh2 |
A |
G |
9: 108,441,165 (GRCm39) |
T148A |
probably benign |
Het |
| Irx3 |
T |
C |
8: 92,527,763 (GRCm39) |
S36G |
probably benign |
Het |
| Itga5 |
T |
A |
15: 103,259,514 (GRCm39) |
K667N |
probably benign |
Het |
| Itgad |
G |
A |
7: 127,773,188 (GRCm39) |
C15Y |
probably benign |
Het |
| Ly75 |
T |
G |
2: 60,213,490 (GRCm39) |
E29A |
probably benign |
Het |
| Magi1 |
T |
A |
6: 93,685,180 (GRCm39) |
S506C |
probably damaging |
Het |
| Map4 |
G |
A |
9: 109,901,702 (GRCm39) |
V781M |
possibly damaging |
Het |
| Med23 |
T |
C |
10: 24,778,043 (GRCm39) |
L797P |
probably damaging |
Het |
| Naip1 |
C |
T |
13: 100,559,636 (GRCm39) |
G1123R |
probably benign |
Het |
| Ncor1 |
G |
T |
11: 62,274,016 (GRCm39) |
P55Q |
probably damaging |
Het |
| Odr4 |
A |
T |
1: 150,256,111 (GRCm39) |
N211K |
probably benign |
Het |
| Ofcc1 |
T |
A |
13: 40,334,060 (GRCm39) |
I344F |
probably benign |
Het |
| Or4a74 |
C |
A |
2: 89,439,667 (GRCm39) |
V260F |
probably damaging |
Het |
| Or4d5 |
A |
T |
9: 40,012,189 (GRCm39) |
M199K |
probably damaging |
Het |
| Or5d35 |
A |
G |
2: 87,855,465 (GRCm39) |
Y133C |
probably damaging |
Het |
| Or5k1 |
G |
A |
16: 58,618,095 (GRCm39) |
T38I |
probably damaging |
Het |
| Otub2 |
C |
T |
12: 103,369,687 (GRCm39) |
|
probably benign |
Het |
| Parva |
A |
G |
7: 112,143,960 (GRCm39) |
M83V |
probably benign |
Het |
| Pcdha8 |
T |
A |
18: 37,126,572 (GRCm39) |
N351K |
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,732 (GRCm39) |
L704* |
probably null |
Het |
| Pkd1l3 |
T |
A |
8: 110,353,468 (GRCm39) |
L683H |
probably damaging |
Het |
| Plekhn1 |
C |
T |
4: 156,308,331 (GRCm39) |
R288H |
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,627,086 (GRCm39) |
N1457K |
probably damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,693,719 (GRCm39) |
S981P |
probably damaging |
Het |
| Ppp1r9a |
A |
G |
6: 5,159,648 (GRCm39) |
K1062E |
probably damaging |
Het |
| Ptpre |
A |
T |
7: 135,276,007 (GRCm39) |
T498S |
probably benign |
Het |
| Pus7l |
C |
T |
15: 94,427,332 (GRCm39) |
|
probably null |
Het |
| Rptn |
C |
T |
3: 93,305,639 (GRCm39) |
Q991* |
probably null |
Het |
| Rsu1 |
T |
G |
2: 13,229,170 (GRCm39) |
E76A |
probably damaging |
Het |
| Septin11 |
T |
A |
5: 93,304,824 (GRCm39) |
F214I |
probably damaging |
Het |
| Slc1a7 |
G |
T |
4: 107,869,587 (GRCm39) |
A551S |
probably benign |
Het |
| Slc45a2 |
T |
A |
15: 11,000,941 (GRCm39) |
Y13* |
probably null |
Het |
| Slc7a14 |
T |
G |
3: 31,311,719 (GRCm39) |
L100F |
probably damaging |
Het |
| Slit3 |
A |
G |
11: 35,598,932 (GRCm39) |
E1512G |
probably damaging |
Het |
| Stat5a |
A |
G |
11: 100,767,883 (GRCm39) |
Q458R |
possibly damaging |
Het |
| Svep1 |
T |
C |
4: 58,084,906 (GRCm39) |
T1811A |
possibly damaging |
Het |
| Tarbp1 |
A |
G |
8: 127,179,667 (GRCm39) |
F624L |
probably benign |
Het |
| Tfeb |
T |
G |
17: 48,070,433 (GRCm39) |
|
probably null |
Het |
| Tnxb |
G |
A |
17: 34,891,126 (GRCm39) |
G490R |
probably damaging |
Het |
| Tra2b |
T |
C |
16: 22,077,953 (GRCm39) |
Y32C |
probably damaging |
Het |
| Trpv4 |
C |
T |
5: 114,760,708 (GRCm39) |
|
probably benign |
Het |
| Uvrag |
A |
T |
7: 98,637,414 (GRCm39) |
L138* |
probably null |
Het |
| Vwf |
A |
T |
6: 125,655,725 (GRCm39) |
|
probably null |
Het |
| Wdr47 |
G |
A |
3: 108,526,322 (GRCm39) |
D282N |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,340,290 (GRCm39) |
N844D |
possibly damaging |
Het |
| Xirp2 |
A |
G |
2: 67,339,042 (GRCm39) |
M428V |
probably benign |
Het |
| Znfx1 |
G |
A |
2: 166,880,920 (GRCm39) |
T288I |
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 |
|
R4803:Gm12258
|
UTSW |
11 |
58,749,856 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5554:Gm12258
|
UTSW |
11 |
58,749,294 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
58,750,014 (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 |
|
|
|
Z1188:Gm12258
|
UTSW |
11 |
58,750,690 (GRCm39) |
missense |
unknown |
|
|
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'- AGCCTTTTACAAGCGAGCCC -3'
(R):5'- ATGAACTAGCTTCAAGGCTCATC -3'
Sequencing Primer
(F):5'- GAGAAACCCTTTGCGTGTGATAC -3'
(R):5'- TGCCTAGTGAGGTGGAATTTCAAAC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation