Incidental Mutation 'R6113:Gm12185'
ID |
484965 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm12185
|
Ensembl Gene |
ENSMUSG00000048852 |
Gene Name |
predicted gene 12185 |
Synonyms |
|
MMRRC Submission |
044262-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R6113 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
48795483-48818009 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 48806167 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 341
(H341Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092049
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059930]
[ENSMUST00000094476]
|
AlphaFold |
Q5NCB2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059930
AA Change: H341Q
PolyPhen 2
Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000054351 Gene: ENSMUSG00000048852 AA Change: H341Q
Domain | Start | End | E-Value | Type |
Pfam:IIGP
|
27 |
389 |
8.4e-123 |
PFAM |
Pfam:MMR_HSR1
|
63 |
190 |
2.2e-9 |
PFAM |
low complexity region
|
421 |
432 |
N/A |
INTRINSIC |
Pfam:IIGP
|
438 |
811 |
3.4e-152 |
PFAM |
Pfam:MMR_HSR1
|
474 |
632 |
1.4e-7 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094476
AA Change: H341Q
PolyPhen 2
Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000092049 Gene: ENSMUSG00000048852 AA Change: H341Q
Domain | Start | End | E-Value | Type |
Pfam:IIGP
|
27 |
389 |
1e-122 |
PFAM |
Pfam:DLIC
|
43 |
98 |
3.2e-5 |
PFAM |
Pfam:MMR_HSR1
|
63 |
187 |
6e-9 |
PFAM |
low complexity region
|
421 |
432 |
N/A |
INTRINSIC |
Pfam:IIGP
|
438 |
811 |
8.9e-153 |
PFAM |
Pfam:MMR_HSR1
|
474 |
615 |
2.6e-7 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129318
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.1%
|
Validation Efficiency |
100% (58/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abat |
C |
A |
16: 8,390,764 (GRCm39) |
T7N |
probably benign |
Het |
Aldh1l2 |
G |
T |
10: 83,343,998 (GRCm39) |
C359* |
probably null |
Het |
Atpsckmt |
T |
C |
15: 31,608,308 (GRCm39) |
Y120H |
probably damaging |
Het |
Bpifb6 |
G |
A |
2: 153,752,651 (GRCm39) |
E384K |
probably benign |
Het |
Chtf18 |
G |
A |
17: 25,941,841 (GRCm39) |
R544C |
probably damaging |
Het |
Cilp2 |
T |
C |
8: 70,335,009 (GRCm39) |
D663G |
probably benign |
Het |
Cplx3 |
T |
A |
9: 57,509,723 (GRCm39) |
I92F |
probably damaging |
Het |
Cr1l |
T |
C |
1: 194,813,719 (GRCm39) |
|
probably benign |
Het |
Cyp1a1 |
T |
A |
9: 57,609,174 (GRCm39) |
F323I |
probably damaging |
Het |
Dclk1 |
T |
C |
3: 55,397,240 (GRCm39) |
Y186H |
probably benign |
Het |
Dclre1c |
T |
C |
2: 3,453,900 (GRCm39) |
L261P |
probably damaging |
Het |
Dcst2 |
T |
C |
3: 89,275,192 (GRCm39) |
S312P |
possibly damaging |
Het |
Dnah17 |
A |
G |
11: 118,017,101 (GRCm39) |
L213P |
probably damaging |
Het |
Dnd1 |
T |
A |
18: 36,898,448 (GRCm39) |
Y102F |
probably damaging |
Het |
Dnm1l |
T |
C |
16: 16,158,867 (GRCm39) |
N121S |
probably benign |
Het |
Dsp |
T |
A |
13: 38,376,023 (GRCm39) |
N1269K |
probably damaging |
Het |
Dync1h1 |
T |
C |
12: 110,586,848 (GRCm39) |
V943A |
probably benign |
Het |
Eml5 |
T |
A |
12: 98,790,933 (GRCm39) |
K1322* |
probably null |
Het |
Fgf23 |
A |
G |
6: 127,055,117 (GRCm39) |
T76A |
probably benign |
Het |
Fgf6 |
T |
C |
6: 126,992,900 (GRCm39) |
|
probably null |
Het |
Fkbp15 |
G |
A |
4: 62,258,884 (GRCm39) |
T124I |
probably benign |
Het |
Gm20647 |
A |
G |
5: 72,487,143 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
G |
C |
2: 69,313,901 (GRCm39) |
R2277G |
possibly damaging |
Het |
Lrrc69 |
T |
C |
4: 14,708,673 (GRCm39) |
T224A |
probably benign |
Het |
Ly75 |
T |
G |
2: 60,199,217 (GRCm39) |
I175L |
probably benign |
Het |
Morc2b |
G |
T |
17: 33,357,042 (GRCm39) |
Y243* |
probably null |
Het |
Myo18b |
C |
G |
5: 113,014,251 (GRCm39) |
D764H |
probably damaging |
Het |
Naip6 |
T |
C |
13: 100,435,794 (GRCm39) |
S910G |
possibly damaging |
Het |
Nbeal1 |
T |
A |
1: 60,261,422 (GRCm39) |
I21N |
possibly damaging |
Het |
P3h2 |
A |
T |
16: 25,799,903 (GRCm39) |
I430K |
probably benign |
Het |
Pcdh9 |
A |
G |
14: 94,124,544 (GRCm39) |
V542A |
probably damaging |
Het |
Pkp3 |
T |
A |
7: 140,662,569 (GRCm39) |
N60K |
probably damaging |
Het |
Pold1 |
C |
A |
7: 44,187,124 (GRCm39) |
G686C |
probably damaging |
Het |
Prdm6 |
T |
A |
18: 53,606,673 (GRCm39) |
L58Q |
probably damaging |
Het |
Rab13 |
C |
A |
3: 90,132,173 (GRCm39) |
R86S |
probably benign |
Het |
Rad21l |
A |
C |
2: 151,499,398 (GRCm39) |
L265V |
probably damaging |
Het |
Rec8 |
G |
A |
14: 55,859,935 (GRCm39) |
A228T |
probably damaging |
Het |
Rgs12 |
C |
A |
5: 35,177,667 (GRCm39) |
R76S |
probably damaging |
Het |
Sfmbt1 |
A |
G |
14: 30,537,141 (GRCm39) |
N670D |
possibly damaging |
Het |
Slc17a7 |
A |
G |
7: 44,824,175 (GRCm39) |
T464A |
possibly damaging |
Het |
Srcap |
C |
A |
7: 127,159,453 (GRCm39) |
|
probably benign |
Het |
Srgap2 |
A |
T |
1: 131,283,243 (GRCm39) |
|
probably null |
Het |
Tenm1 |
C |
T |
X: 41,916,072 (GRCm39) |
G404E |
probably damaging |
Het |
Thpo |
C |
A |
16: 20,547,597 (GRCm39) |
|
probably benign |
Het |
Tle4 |
A |
T |
19: 14,572,952 (GRCm39) |
|
probably null |
Het |
Tnfrsf14 |
T |
C |
4: 155,008,949 (GRCm39) |
Q74R |
possibly damaging |
Het |
Trav15-2-dv6-2 |
T |
G |
14: 53,887,182 (GRCm39) |
V34G |
probably benign |
Het |
Trbv13-1 |
C |
T |
6: 41,093,313 (GRCm39) |
A82V |
probably benign |
Het |
Trib1 |
C |
T |
15: 59,523,487 (GRCm39) |
R174* |
probably null |
Het |
Trpv3 |
G |
A |
11: 73,176,844 (GRCm39) |
V408I |
probably benign |
Het |
Tyk2 |
A |
T |
9: 21,019,218 (GRCm39) |
V1068E |
probably damaging |
Het |
Usp35 |
A |
G |
7: 96,973,533 (GRCm39) |
S230P |
probably damaging |
Het |
Utp25 |
T |
C |
1: 192,811,810 (GRCm39) |
I46V |
probably null |
Het |
Vav1 |
T |
A |
17: 57,608,884 (GRCm39) |
D349E |
probably benign |
Het |
Vcan |
T |
A |
13: 89,805,655 (GRCm39) |
R114* |
probably null |
Het |
Vmn1r25 |
T |
C |
6: 57,955,557 (GRCm39) |
E244G |
probably benign |
Het |
Vmn2r5 |
T |
C |
3: 64,398,820 (GRCm39) |
T720A |
probably benign |
Het |
Wdr72 |
T |
A |
9: 74,059,923 (GRCm39) |
D444E |
probably benign |
Het |
Zfhx3 |
T |
A |
8: 109,674,053 (GRCm39) |
M1701K |
probably benign |
Het |
|
Other mutations in Gm12185 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00433:Gm12185
|
APN |
11 |
48,798,049 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00495:Gm12185
|
APN |
11 |
48,798,688 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01763:Gm12185
|
APN |
11 |
48,806,671 (GRCm39) |
missense |
probably benign |
0.07 |
IGL01919:Gm12185
|
APN |
11 |
48,798,886 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03388:Gm12185
|
APN |
11 |
48,799,113 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03404:Gm12185
|
APN |
11 |
48,798,864 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4458001:Gm12185
|
UTSW |
11 |
48,798,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R0347:Gm12185
|
UTSW |
11 |
48,806,009 (GRCm39) |
missense |
probably benign |
0.29 |
R0488:Gm12185
|
UTSW |
11 |
48,798,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R1168:Gm12185
|
UTSW |
11 |
48,806,182 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1223:Gm12185
|
UTSW |
11 |
48,798,103 (GRCm39) |
missense |
probably damaging |
0.98 |
R1417:Gm12185
|
UTSW |
11 |
48,798,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:Gm12185
|
UTSW |
11 |
48,806,501 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1468:Gm12185
|
UTSW |
11 |
48,806,501 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1519:Gm12185
|
UTSW |
11 |
48,798,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R1558:Gm12185
|
UTSW |
11 |
48,806,262 (GRCm39) |
missense |
probably damaging |
0.99 |
R1630:Gm12185
|
UTSW |
11 |
48,798,717 (GRCm39) |
missense |
probably benign |
0.31 |
R1758:Gm12185
|
UTSW |
11 |
48,798,859 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1793:Gm12185
|
UTSW |
11 |
48,806,583 (GRCm39) |
nonsense |
probably null |
|
R1908:Gm12185
|
UTSW |
11 |
48,806,231 (GRCm39) |
missense |
probably benign |
0.00 |
R1983:Gm12185
|
UTSW |
11 |
48,806,183 (GRCm39) |
missense |
probably benign |
0.01 |
R3917:Gm12185
|
UTSW |
11 |
48,806,760 (GRCm39) |
missense |
probably benign |
0.01 |
R3969:Gm12185
|
UTSW |
11 |
48,798,172 (GRCm39) |
missense |
probably benign |
0.03 |
R3970:Gm12185
|
UTSW |
11 |
48,798,172 (GRCm39) |
missense |
probably benign |
0.03 |
R4510:Gm12185
|
UTSW |
11 |
48,799,305 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4511:Gm12185
|
UTSW |
11 |
48,799,305 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4529:Gm12185
|
UTSW |
11 |
48,798,921 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4529:Gm12185
|
UTSW |
11 |
48,798,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R4532:Gm12185
|
UTSW |
11 |
48,798,921 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4532:Gm12185
|
UTSW |
11 |
48,798,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R4533:Gm12185
|
UTSW |
11 |
48,798,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R4533:Gm12185
|
UTSW |
11 |
48,798,921 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4678:Gm12185
|
UTSW |
11 |
48,806,367 (GRCm39) |
missense |
probably benign |
0.05 |
R5094:Gm12185
|
UTSW |
11 |
48,798,375 (GRCm39) |
missense |
probably benign |
0.35 |
R5238:Gm12185
|
UTSW |
11 |
48,799,044 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5306:Gm12185
|
UTSW |
11 |
48,806,382 (GRCm39) |
missense |
probably benign |
0.03 |
R5371:Gm12185
|
UTSW |
11 |
48,806,566 (GRCm39) |
missense |
probably benign |
0.01 |
R5995:Gm12185
|
UTSW |
11 |
48,806,540 (GRCm39) |
missense |
probably benign |
0.40 |
R6147:Gm12185
|
UTSW |
11 |
48,806,717 (GRCm39) |
missense |
probably benign |
|
R6160:Gm12185
|
UTSW |
11 |
48,799,255 (GRCm39) |
nonsense |
probably null |
|
R6247:Gm12185
|
UTSW |
11 |
48,806,735 (GRCm39) |
missense |
probably damaging |
0.98 |
R6264:Gm12185
|
UTSW |
11 |
48,807,002 (GRCm39) |
missense |
probably benign |
0.01 |
R6748:Gm12185
|
UTSW |
11 |
48,807,123 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6765:Gm12185
|
UTSW |
11 |
48,806,531 (GRCm39) |
missense |
probably benign |
0.12 |
R6970:Gm12185
|
UTSW |
11 |
48,798,739 (GRCm39) |
nonsense |
probably null |
|
R7028:Gm12185
|
UTSW |
11 |
48,799,071 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7033:Gm12185
|
UTSW |
11 |
48,806,826 (GRCm39) |
missense |
probably benign |
|
R7512:Gm12185
|
UTSW |
11 |
48,806,717 (GRCm39) |
missense |
probably benign |
|
R7609:Gm12185
|
UTSW |
11 |
48,806,850 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7673:Gm12185
|
UTSW |
11 |
48,798,455 (GRCm39) |
missense |
probably benign |
0.45 |
R8848:Gm12185
|
UTSW |
11 |
48,806,280 (GRCm39) |
missense |
possibly damaging |
0.60 |
R9578:Gm12185
|
UTSW |
11 |
48,806,408 (GRCm39) |
missense |
probably benign |
|
R9580:Gm12185
|
UTSW |
11 |
48,799,192 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9712:Gm12185
|
UTSW |
11 |
48,798,216 (GRCm39) |
missense |
probably benign |
0.03 |
R9760:Gm12185
|
UTSW |
11 |
48,806,168 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Gm12185
|
UTSW |
11 |
48,798,913 (GRCm39) |
missense |
probably benign |
0.21 |
Z1177:Gm12185
|
UTSW |
11 |
48,807,129 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGAAACACTTTGCCCACGG -3'
(R):5'- AGGAATCCATAATGCCAAGAGC -3'
Sequencing Primer
(F):5'- GCCTTAGAGTTGAATGAGCTCACC -3'
(R):5'- GGACATGGAGATGTTGCA -3'
|
Posted On |
2017-08-16 |