Incidental Mutation 'R5554:Gm12258'
ID |
435301 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm12258
|
Ensembl Gene |
ENSMUSG00000072915 |
Gene Name |
predicted gene 12258 |
Synonyms |
|
MMRRC Submission |
043111-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5554 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
58737984-58752782 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 58749294 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 156
(S156R)
|
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 |
possibly damaging
Transcript: ENSMUST00000139337
AA Change: S156R
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000117644 Gene: ENSMUSG00000072915 AA Change: S156R
Domain | Start | End | E-Value | Type |
KRAB
|
56 |
116 |
1.8e-32 |
SMART |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
Validation Efficiency |
97% (73/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aarsd1 |
C |
A |
11: 101,304,807 (GRCm39) |
R227L |
probably benign |
Het |
Adamtsl1 |
A |
G |
4: 86,195,182 (GRCm39) |
Q533R |
possibly damaging |
Het |
Adgb |
C |
T |
10: 10,216,217 (GRCm39) |
R1524H |
probably damaging |
Het |
Ank2 |
A |
T |
3: 126,792,622 (GRCm39) |
N739K |
possibly damaging |
Het |
Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
Anxa10 |
G |
A |
8: 62,514,080 (GRCm39) |
P249L |
possibly damaging |
Het |
Banp |
G |
A |
8: 122,718,334 (GRCm39) |
E183K |
probably damaging |
Het |
BC051665 |
C |
G |
13: 60,932,435 (GRCm39) |
L83F |
probably damaging |
Het |
Btn1a1 |
A |
T |
13: 23,643,295 (GRCm39) |
F385I |
possibly damaging |
Het |
Chchd4 |
A |
T |
6: 91,441,999 (GRCm39) |
*140R |
probably null |
Het |
Dcpp2 |
T |
C |
17: 24,119,545 (GRCm39) |
Y120H |
probably damaging |
Het |
Dlx2 |
G |
A |
2: 71,375,805 (GRCm39) |
R173C |
possibly damaging |
Het |
Dmbt1 |
C |
A |
7: 130,701,030 (GRCm39) |
Y1069* |
probably null |
Het |
Dop1a |
T |
A |
9: 86,403,710 (GRCm39) |
F1637I |
probably damaging |
Het |
Dusp18 |
T |
C |
11: 3,847,202 (GRCm39) |
I64T |
probably damaging |
Het |
Evi5l |
A |
G |
8: 4,256,491 (GRCm39) |
|
probably benign |
Het |
Fiz1 |
T |
C |
7: 5,015,849 (GRCm39) |
H47R |
probably damaging |
Het |
Fndc3b |
G |
T |
3: 27,697,162 (GRCm39) |
P17T |
possibly damaging |
Het |
Foxa1 |
T |
A |
12: 57,589,077 (GRCm39) |
Q381L |
probably benign |
Het |
Gda |
A |
G |
19: 21,405,837 (GRCm39) |
|
probably null |
Het |
Gm10044 |
T |
C |
14: 7,771,181 (GRCm38) |
|
noncoding transcript |
Het |
Gm973 |
A |
G |
1: 59,566,131 (GRCm39) |
R117G |
probably benign |
Het |
Grwd1 |
C |
T |
7: 45,480,064 (GRCm39) |
V48I |
probably damaging |
Het |
Ifi209 |
T |
A |
1: 173,468,763 (GRCm39) |
S198T |
probably benign |
Het |
Inka2 |
T |
A |
3: 105,623,930 (GRCm39) |
S82R |
possibly damaging |
Het |
Itga1 |
A |
T |
13: 115,129,010 (GRCm39) |
C549* |
probably null |
Het |
Kmt2c |
C |
A |
5: 25,499,608 (GRCm39) |
G511C |
probably damaging |
Het |
Knstrn |
T |
C |
2: 118,664,444 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,382,768 (GRCm39) |
Y39C |
possibly damaging |
Het |
Maco1 |
T |
C |
4: 134,555,445 (GRCm39) |
I343V |
probably benign |
Het |
Micos10 |
T |
C |
4: 138,833,218 (GRCm39) |
|
probably benign |
Het |
N4bp2 |
T |
C |
5: 65,965,457 (GRCm39) |
Y1169H |
probably benign |
Het |
Nbr1 |
C |
T |
11: 101,455,633 (GRCm39) |
T129I |
probably benign |
Het |
Or52e8 |
A |
C |
7: 104,625,189 (GRCm39) |
M1R |
probably null |
Het |
Or5k15 |
A |
T |
16: 58,710,169 (GRCm39) |
M138K |
possibly damaging |
Het |
Or7g25 |
T |
C |
9: 19,160,039 (GRCm39) |
I219V |
probably benign |
Het |
Oxct1 |
T |
A |
15: 4,120,677 (GRCm39) |
F254I |
probably benign |
Het |
Patj |
T |
A |
4: 98,342,633 (GRCm39) |
S576T |
possibly damaging |
Het |
Pdxdc1 |
A |
T |
16: 13,690,363 (GRCm39) |
C202S |
probably benign |
Het |
Pet100 |
A |
T |
8: 3,672,381 (GRCm39) |
I19F |
probably damaging |
Het |
Pik3r5 |
T |
C |
11: 68,385,059 (GRCm39) |
Y655H |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,151,476 (GRCm39) |
S3807P |
probably damaging |
Het |
Ptma |
A |
G |
1: 86,454,649 (GRCm39) |
T8A |
probably damaging |
Het |
Ptpn3 |
G |
T |
4: 57,240,843 (GRCm39) |
N257K |
probably damaging |
Het |
R3hdm1 |
C |
A |
1: 128,164,409 (GRCm39) |
Q1108K |
probably benign |
Het |
Rimbp2 |
T |
C |
5: 128,857,406 (GRCm39) |
D815G |
probably damaging |
Het |
Scn10a |
A |
G |
9: 119,523,196 (GRCm39) |
F66L |
probably benign |
Het |
Selenot |
T |
C |
3: 58,484,296 (GRCm39) |
|
probably null |
Het |
Serpinb8 |
A |
G |
1: 107,526,705 (GRCm39) |
T82A |
probably benign |
Het |
Serpini2 |
G |
A |
3: 75,175,295 (GRCm39) |
|
probably benign |
Het |
Slc1a6 |
G |
T |
10: 78,631,816 (GRCm39) |
G214V |
probably benign |
Het |
Slc5a6 |
C |
A |
5: 31,195,444 (GRCm39) |
A425S |
probably damaging |
Het |
Smo |
C |
A |
6: 29,736,123 (GRCm39) |
N38K |
possibly damaging |
Het |
Smtn |
A |
T |
11: 3,470,811 (GRCm39) |
C909* |
probably null |
Het |
Sntg2 |
C |
T |
12: 30,308,040 (GRCm39) |
R215H |
probably benign |
Het |
Stk4 |
T |
A |
2: 163,941,645 (GRCm39) |
V287E |
probably benign |
Het |
Tdrd7 |
A |
G |
4: 46,005,358 (GRCm39) |
D388G |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,642,652 (GRCm39) |
F13294L |
probably damaging |
Het |
Ube2j1 |
T |
G |
4: 33,040,745 (GRCm39) |
F84V |
probably damaging |
Het |
Ugt3a1 |
A |
G |
15: 9,370,287 (GRCm39) |
Q477R |
probably damaging |
Het |
Utf1 |
T |
C |
7: 139,523,859 (GRCm39) |
S25P |
probably benign |
Het |
Vmn1r184 |
A |
T |
7: 25,966,413 (GRCm39) |
H53L |
probably damaging |
Het |
Vmn2r13 |
A |
T |
5: 109,339,860 (GRCm39) |
N38K |
possibly damaging |
Het |
Vps13a |
C |
T |
19: 16,699,775 (GRCm39) |
D756N |
probably damaging |
Het |
Vwa1 |
G |
T |
4: 155,857,695 (GRCm39) |
D34E |
probably damaging |
Het |
Zfhx2 |
A |
C |
14: 55,301,774 (GRCm39) |
L2070R |
probably damaging |
Het |
Zfp984 |
A |
G |
4: 147,840,362 (GRCm39) |
V163A |
probably benign |
Het |
Zp3r |
A |
T |
1: 130,511,208 (GRCm39) |
M325K |
probably benign |
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 |
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 |
58,750,014 (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'- AATGAGGTCAGTCAAGACAGCC -3'
(R):5'- CTGGAGGGATTGCTCATAGG -3'
Sequencing Primer
(F):5'- GCCAAAAGATACGCAGATGCAGTC -3'
(R):5'- GGGATTGCTCATAGGGAATGC -3'
|
Posted On |
2016-10-24 |