Incidental Mutation 'R9723:Gm12258'
| ID |
730934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm12258
|
| Ensembl Gene |
ENSMUSG00000072915 |
| Gene Name |
predicted gene 12258 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9723 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
58737984-58752782 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 58750448 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 541
(P541L)
|
| 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: P63L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091282
Gene: ENSMUSG00000072915
AA Change: P63L
| 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 |
unknown
Transcript: ENSMUST00000139337
AA Change: P541L
|
| SMART Domains |
Protein: ENSMUSP00000117644
Gene: ENSMUSG00000072915
AA Change: P541L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
56 |
116 |
1.8e-32 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
G |
A |
1: 75,156,366 (GRCm39) |
R133W |
probably benign |
Het |
| Abcc3 |
T |
A |
11: 94,250,725 (GRCm39) |
T877S |
probably benign |
Het |
| Alb |
A |
T |
5: 90,611,962 (GRCm39) |
K130N |
probably damaging |
Het |
| Alkbh8 |
G |
A |
9: 3,385,283 (GRCm39) |
S560N |
probably benign |
Het |
| Angel2 |
T |
G |
1: 190,671,342 (GRCm39) |
L234R |
probably damaging |
Het |
| Catip |
C |
T |
1: 74,403,745 (GRCm39) |
T154I |
probably benign |
Het |
| Ccdc163 |
C |
T |
4: 116,569,595 (GRCm39) |
Q102* |
probably null |
Het |
| Cep250 |
A |
G |
2: 155,823,337 (GRCm39) |
E997G |
probably benign |
Het |
| Ces2f |
T |
C |
8: 105,677,463 (GRCm39) |
I183T |
possibly damaging |
Het |
| Commd8 |
A |
G |
5: 72,318,309 (GRCm39) |
V158A |
possibly damaging |
Het |
| Cyp2b9 |
C |
T |
7: 25,909,596 (GRCm39) |
Q455* |
probably null |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,284 (GRCm39) |
H704N |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 30,987,946 (GRCm39) |
T3491A |
probably damaging |
Het |
| Dnai1 |
T |
G |
4: 41,603,302 (GRCm39) |
F195C |
possibly damaging |
Het |
| Dock7 |
A |
G |
4: 98,908,270 (GRCm39) |
V620A |
|
Het |
| Dock7 |
A |
T |
4: 98,960,660 (GRCm39) |
D289E |
|
Het |
| Dpys |
T |
A |
15: 39,691,509 (GRCm39) |
E271V |
probably damaging |
Het |
| Elovl3 |
T |
C |
19: 46,123,155 (GRCm39) |
Y244H |
probably damaging |
Het |
| Enam |
G |
A |
5: 88,652,241 (GRCm39) |
G1250E |
probably damaging |
Het |
| Espl1 |
C |
T |
15: 102,229,170 (GRCm39) |
T1774M |
probably benign |
Het |
| Fasl |
T |
C |
1: 161,615,535 (GRCm39) |
K107R |
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,202,119 (GRCm39) |
C1251* |
probably null |
Het |
| Fn1 |
G |
T |
1: 71,663,369 (GRCm39) |
Q1040K |
possibly damaging |
Het |
| Frem3 |
C |
T |
8: 81,341,352 (GRCm39) |
S1215L |
probably benign |
Het |
| G3bp2 |
A |
T |
5: 92,214,388 (GRCm39) |
D135E |
possibly damaging |
Het |
| Gabpb1 |
C |
T |
2: 126,488,648 (GRCm39) |
V240I |
probably benign |
Het |
| Galnt12 |
C |
G |
4: 47,119,541 (GRCm39) |
Y452* |
probably null |
Het |
| Ggta1 |
G |
T |
2: 35,303,418 (GRCm39) |
D91E |
probably benign |
Het |
| Gm12789 |
T |
A |
4: 101,846,083 (GRCm39) |
W115R |
possibly damaging |
Het |
| Gm8126 |
T |
C |
14: 43,119,141 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
A |
T |
11: 97,225,546 (GRCm39) |
L2203H |
possibly damaging |
Het |
| H1f6 |
A |
G |
13: 23,879,906 (GRCm39) |
K20E |
probably damaging |
Het |
| Hapln3 |
A |
T |
7: 78,771,736 (GRCm39) |
V51E |
possibly damaging |
Het |
| Ifit1 |
A |
G |
19: 34,626,257 (GRCm39) |
*464W |
probably null |
Het |
| Il1r1 |
A |
C |
1: 40,332,721 (GRCm39) |
I137L |
probably benign |
Het |
| Il1rap |
T |
A |
16: 26,442,907 (GRCm39) |
M1K |
probably null |
Het |
| Lgi2 |
A |
G |
5: 52,695,843 (GRCm39) |
L372P |
probably damaging |
Het |
| Lrrc46 |
A |
G |
11: 96,925,773 (GRCm39) |
S230P |
possibly damaging |
Het |
| Ltbr |
G |
A |
6: 125,284,348 (GRCm39) |
R365W |
probably damaging |
Het |
| Mapk8ip3 |
C |
A |
17: 25,132,585 (GRCm39) |
W339L |
possibly damaging |
Het |
| Msln |
A |
T |
17: 25,969,008 (GRCm39) |
M459K |
possibly damaging |
Het |
| Msr1 |
A |
G |
8: 40,042,357 (GRCm39) |
V406A |
possibly damaging |
Het |
| Ndst2 |
G |
T |
14: 20,775,512 (GRCm39) |
D659E |
probably benign |
Het |
| Npat |
T |
A |
9: 53,473,746 (GRCm39) |
S513T |
probably benign |
Het |
| Npat |
T |
G |
9: 53,481,861 (GRCm39) |
L1190V |
probably damaging |
Het |
| Npc1 |
A |
G |
18: 12,343,649 (GRCm39) |
I448T |
probably benign |
Het |
| Omd |
T |
C |
13: 49,743,838 (GRCm39) |
F296S |
probably damaging |
Het |
| Oprm1 |
A |
G |
10: 6,788,514 (GRCm39) |
N423S |
possibly damaging |
Het |
| Oxtr |
G |
A |
6: 112,466,304 (GRCm39) |
T152I |
probably benign |
Het |
| Pak2 |
A |
T |
16: 31,852,650 (GRCm39) |
V297E |
probably damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,603,039 (GRCm39) |
Y434H |
probably damaging |
Het |
| Pet100 |
G |
A |
8: 3,672,374 (GRCm39) |
M20I |
probably damaging |
Het |
| Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
| Plekhn1 |
A |
G |
4: 156,306,875 (GRCm39) |
S505P |
probably benign |
Het |
| Plin5 |
G |
A |
17: 56,423,290 (GRCm39) |
A90V |
probably damaging |
Het |
| Poc5 |
A |
G |
13: 96,551,026 (GRCm39) |
T526A |
probably benign |
Het |
| Potefam1 |
T |
C |
2: 111,058,700 (GRCm39) |
H84R |
probably damaging |
Het |
| Pramel7 |
C |
T |
2: 87,320,019 (GRCm39) |
V425I |
possibly damaging |
Het |
| Rad51d |
A |
T |
11: 82,781,162 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
T |
C |
14: 33,677,474 (GRCm39) |
M474T |
possibly damaging |
Het |
| Rcan3 |
A |
G |
4: 135,152,680 (GRCm39) |
S14P |
probably benign |
Het |
| Rps6ka4 |
A |
T |
19: 6,816,663 (GRCm39) |
V140E |
probably damaging |
Het |
| Rsbn1l |
G |
A |
5: 21,101,464 (GRCm39) |
S692L |
possibly damaging |
Het |
| Sgk1 |
A |
T |
10: 21,872,239 (GRCm39) |
I272F |
probably damaging |
Het |
| Skor1 |
A |
G |
9: 63,053,714 (GRCm39) |
V85A |
probably damaging |
Het |
| Slc12a1 |
A |
T |
2: 125,059,827 (GRCm39) |
D909V |
probably damaging |
Het |
| Slc25a18 |
C |
A |
6: 120,770,489 (GRCm39) |
A283E |
probably benign |
Het |
| Slc41a1 |
T |
C |
1: 131,772,103 (GRCm39) |
L411P |
possibly damaging |
Het |
| Spata13 |
T |
C |
14: 60,928,498 (GRCm39) |
S19P |
probably damaging |
Het |
| Stab1 |
T |
A |
14: 30,885,848 (GRCm39) |
H42L |
probably benign |
Het |
| Stag3 |
T |
A |
5: 138,298,103 (GRCm39) |
D698E |
probably benign |
Het |
| Syngap1 |
G |
A |
17: 27,189,510 (GRCm39) |
R1305H |
possibly damaging |
Het |
| Tek |
T |
G |
4: 94,692,539 (GRCm39) |
W216G |
possibly damaging |
Het |
| Trappc9 |
A |
G |
15: 72,461,963 (GRCm39) |
Y1101H |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,601,929 (GRCm39) |
Y10251H |
probably damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,625,061 (GRCm39) |
K535E |
probably damaging |
Het |
| Usp14 |
G |
T |
18: 10,009,993 (GRCm39) |
Q185K |
probably damaging |
Het |
| Usp32 |
A |
T |
11: 84,935,536 (GRCm39) |
Y413* |
probably null |
Het |
| Uvssa |
G |
A |
5: 33,547,382 (GRCm39) |
|
probably null |
Het |
| Vmn1r177 |
A |
T |
7: 23,565,774 (GRCm39) |
L34Q |
probably damaging |
Het |
| Wdr41 |
T |
C |
13: 95,151,671 (GRCm39) |
L277P |
probably damaging |
Het |
| Zc2hc1b |
T |
A |
10: 13,044,497 (GRCm39) |
L55F |
probably damaging |
Het |
| Zfp345 |
A |
C |
2: 150,314,189 (GRCm39) |
Y449* |
probably null |
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 |
|
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 |
|
|
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'- TTTTACAAGCGAGCCCACCTAC -3'
(R):5'- GCATGAACTAGCTTCAAGGCTC -3'
Sequencing Primer
(F):5'- CCATATGACTGCCAAGAGTGCG -3'
(R):5'- TGCCTAGTGAGGTGGAATTTCAAAC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation