Incidental Mutation 'R4532:Gm12185'
ID |
333159 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm12185
|
Ensembl Gene |
ENSMUSG00000048852 |
Gene Name |
predicted gene 12185 |
Synonyms |
|
MMRRC Submission |
041772-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R4532 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
48795483-48818009 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 48798921 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 524
(N524S)
|
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: N524S
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000054351 Gene: ENSMUSG00000048852 AA Change: N524S
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: N524S
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000092049 Gene: ENSMUSG00000048852 AA Change: N524S
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 |
|
Meta Mutation Damage Score |
0.4090 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
100% (54/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
T |
A |
5: 4,093,948 (GRCm39) |
F2157I |
probably damaging |
Het |
Aoc1l1 |
A |
G |
6: 48,955,101 (GRCm39) |
E647G |
possibly damaging |
Het |
Ap3b1 |
A |
G |
13: 94,702,243 (GRCm39) |
K1099E |
unknown |
Het |
Arhgap42 |
T |
C |
9: 9,011,433 (GRCm39) |
D451G |
probably damaging |
Het |
Cd19 |
C |
T |
7: 126,011,281 (GRCm39) |
C301Y |
probably damaging |
Het |
Cdh23 |
T |
C |
10: 60,370,202 (GRCm39) |
T198A |
probably benign |
Het |
Cdt1 |
T |
C |
8: 123,298,495 (GRCm39) |
S407P |
probably benign |
Het |
Cyp26c1 |
A |
G |
19: 37,674,227 (GRCm39) |
T34A |
probably damaging |
Het |
Dbh |
C |
A |
2: 27,067,343 (GRCm39) |
H409Q |
possibly damaging |
Het |
Eif5 |
T |
A |
12: 111,506,318 (GRCm39) |
C52* |
probably null |
Het |
Fhod3 |
A |
G |
18: 25,243,278 (GRCm39) |
Y1212C |
probably damaging |
Het |
Ggh |
T |
A |
4: 20,046,225 (GRCm39) |
F44L |
probably benign |
Het |
Gm21095 |
A |
G |
Y: 84,131,953 (GRCm39) |
N149S |
probably damaging |
Het |
Gys2 |
T |
A |
6: 142,400,867 (GRCm39) |
H311L |
probably damaging |
Het |
Hcn4 |
C |
T |
9: 58,765,081 (GRCm39) |
R558C |
unknown |
Het |
Heatr6 |
T |
C |
11: 83,660,498 (GRCm39) |
L546P |
probably damaging |
Het |
Lin54 |
G |
A |
5: 100,594,419 (GRCm39) |
T582I |
possibly damaging |
Het |
Lpin1 |
C |
T |
12: 16,603,963 (GRCm39) |
G623S |
probably benign |
Het |
Lrfn2 |
A |
G |
17: 49,377,564 (GRCm39) |
D215G |
probably damaging |
Het |
Lrrc3c |
C |
A |
11: 98,489,859 (GRCm39) |
S72* |
probably null |
Het |
Me3 |
G |
A |
7: 89,282,108 (GRCm39) |
|
probably benign |
Het |
Msln |
A |
G |
17: 25,969,698 (GRCm39) |
I344T |
probably damaging |
Het |
Oma1 |
G |
A |
4: 103,176,571 (GRCm39) |
V112I |
probably benign |
Het |
Or5al6 |
A |
T |
2: 85,976,274 (GRCm39) |
L268Q |
possibly damaging |
Het |
Or5p4 |
T |
C |
7: 107,680,756 (GRCm39) |
Y252H |
probably benign |
Het |
Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
Pdgfra |
A |
G |
5: 75,341,744 (GRCm39) |
N659S |
probably damaging |
Het |
Rmnd5a |
A |
T |
6: 71,376,109 (GRCm39) |
|
probably null |
Het |
Slc12a8 |
C |
A |
16: 33,371,403 (GRCm39) |
R180S |
probably damaging |
Het |
Slc6a15 |
G |
A |
10: 103,245,648 (GRCm39) |
V544M |
possibly damaging |
Het |
Slco5a1 |
T |
A |
1: 12,949,447 (GRCm39) |
T648S |
probably damaging |
Het |
Snx13 |
T |
C |
12: 35,194,219 (GRCm39) |
F921L |
probably damaging |
Het |
Stard6 |
A |
C |
18: 70,616,605 (GRCm39) |
D88A |
probably damaging |
Het |
Svep1 |
G |
T |
4: 58,068,886 (GRCm39) |
H2967N |
possibly damaging |
Het |
Tcaf2 |
A |
C |
6: 42,603,371 (GRCm39) |
Y730D |
probably damaging |
Het |
Tes |
G |
A |
6: 17,097,407 (GRCm39) |
V172M |
possibly damaging |
Het |
Ttc3 |
T |
A |
16: 94,267,736 (GRCm39) |
|
probably benign |
Het |
Vmn1r23 |
A |
G |
6: 57,902,914 (GRCm39) |
I288T |
probably benign |
Het |
Vmn1r38 |
G |
T |
6: 66,754,016 (GRCm39) |
H33Q |
probably benign |
Het |
Vmn2r75 |
G |
T |
7: 85,797,349 (GRCm39) |
C821* |
probably null |
Het |
Zfp282 |
C |
T |
6: 47,867,567 (GRCm39) |
P248S |
probably benign |
Het |
Zfp655 |
T |
A |
5: 145,181,507 (GRCm39) |
I455N |
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 |
48,798,747 (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 |
R6113:Gm12185
|
UTSW |
11 |
48,806,167 (GRCm39) |
missense |
possibly damaging |
0.47 |
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'- GATATCTTGATCTATCTTGGTTCGGAC -3'
(R):5'- CTGTGATTAGTCATGCTCTGCG -3'
Sequencing Primer
(F):5'- TCTTGGTTCGGACAAAGTAGAAC -3'
(R):5'- TGCTCTGCGAAATATTGACAAAGCC -3'
|
Posted On |
2015-08-18 |