Incidental Mutation 'R7512:Gm12185'
| ID |
582167 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm12185
|
| Ensembl Gene |
ENSMUSG00000048852 |
| Gene Name |
predicted gene 12185 |
| Synonyms |
|
| MMRRC Submission |
045585-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R7512 (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 48806717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 158
(I158K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059930]
[ENSMUST00000094476]
|
| AlphaFold |
Q5NCB2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059930
AA Change: I158K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000054351
Gene: ENSMUSG00000048852
AA Change: I158K
| 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 |
probably benign
Transcript: ENSMUST00000094476
AA Change: I158K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000092049
Gene: ENSMUSG00000048852
AA Change: I158K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
C |
T |
11: 109,829,275 (GRCm39) |
A1395T |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,826,691 (GRCm39) |
K1787E |
|
Het |
| Atg2a |
C |
T |
19: 6,310,106 (GRCm39) |
A1763V |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,187,457 (GRCm39) |
I1637V |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,648,740 (GRCm39) |
T20A |
probably benign |
Het |
| Ccnt2 |
T |
A |
1: 127,730,031 (GRCm39) |
S303T |
possibly damaging |
Het |
| Cdh3 |
C |
T |
8: 107,265,640 (GRCm39) |
Q228* |
probably null |
Het |
| Col19a1 |
C |
T |
1: 24,356,788 (GRCm39) |
G632R |
probably damaging |
Het |
| Dock2 |
A |
C |
11: 34,262,542 (GRCm39) |
C938G |
possibly damaging |
Het |
| Dync1i1 |
G |
T |
6: 5,969,410 (GRCm39) |
V412L |
possibly damaging |
Het |
| Eif1ad6 |
G |
T |
12: 87,668,751 (GRCm39) |
E128* |
probably null |
Het |
| Entrep2 |
C |
T |
7: 64,805,918 (GRCm39) |
A52T |
probably benign |
Het |
| Fam185a |
G |
A |
5: 21,652,356 (GRCm39) |
|
probably null |
Het |
| Fcho1 |
A |
G |
8: 72,169,507 (GRCm39) |
L133P |
possibly damaging |
Het |
| Galnt12 |
G |
A |
4: 47,108,406 (GRCm39) |
R181H |
possibly damaging |
Het |
| Gen1 |
A |
G |
12: 11,310,977 (GRCm39) |
V85A |
possibly damaging |
Het |
| Gm5624 |
T |
C |
14: 44,799,312 (GRCm39) |
R82G |
|
Het |
| Grap2 |
A |
C |
15: 80,532,754 (GRCm39) |
N307T |
probably benign |
Het |
| H6pd |
A |
G |
4: 150,080,405 (GRCm39) |
F147L |
probably benign |
Het |
| Haspin |
A |
T |
11: 73,027,418 (GRCm39) |
I557N |
probably damaging |
Het |
| Hectd4 |
A |
T |
5: 121,435,172 (GRCm39) |
K961N |
possibly damaging |
Het |
| Helz2 |
A |
G |
2: 180,872,647 (GRCm39) |
M2495T |
probably benign |
Het |
| Helz2 |
A |
T |
2: 180,877,393 (GRCm39) |
|
probably null |
Het |
| Impdh1 |
T |
C |
6: 29,207,168 (GRCm39) |
I59V |
probably benign |
Het |
| Kcnn1 |
A |
T |
8: 71,307,293 (GRCm39) |
L200Q |
possibly damaging |
Het |
| Kif5c |
T |
A |
2: 49,590,977 (GRCm39) |
H276Q |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,929,001 (GRCm39) |
L1259P |
probably damaging |
Het |
| Krtap4-1 |
A |
T |
11: 99,518,859 (GRCm39) |
C50* |
probably null |
Het |
| Lat2 |
T |
A |
5: 134,634,798 (GRCm39) |
D114V |
probably damaging |
Het |
| Lrrc41 |
A |
G |
4: 115,950,191 (GRCm39) |
T535A |
possibly damaging |
Het |
| Ly75 |
A |
T |
2: 60,164,907 (GRCm39) |
V757D |
probably damaging |
Het |
| Masp1 |
C |
A |
16: 23,288,874 (GRCm39) |
R642L |
probably damaging |
Het |
| Morn3 |
A |
G |
5: 123,175,343 (GRCm39) |
|
probably null |
Het |
| Mpl |
A |
T |
4: 118,306,089 (GRCm39) |
I384N |
|
Het |
| Mtmr14 |
C |
T |
6: 113,245,652 (GRCm39) |
Q409* |
probably null |
Het |
| Nek1 |
T |
A |
8: 61,583,179 (GRCm39) |
D1272E |
probably benign |
Het |
| Oit3 |
T |
C |
10: 59,274,716 (GRCm39) |
Y28C |
probably damaging |
Het |
| Or2z8 |
T |
A |
8: 72,812,367 (GRCm39) |
I281N |
probably damaging |
Het |
| Or4x12-ps1 |
A |
G |
2: 89,916,040 (GRCm39) |
I255T |
possibly damaging |
Het |
| Or5ac22 |
T |
A |
16: 59,135,390 (GRCm39) |
N127Y |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,477,214 (GRCm39) |
Y186H |
possibly damaging |
Het |
| Pcdhgb1 |
T |
A |
18: 37,815,418 (GRCm39) |
D636E |
probably damaging |
Het |
| Pdgfra |
A |
T |
5: 75,355,675 (GRCm39) |
R1062* |
probably null |
Het |
| Pds5b |
T |
C |
5: 150,711,807 (GRCm39) |
F922L |
probably damaging |
Het |
| Pip5k1c |
G |
A |
10: 81,150,953 (GRCm39) |
|
probably null |
Het |
| Ppp2r3d |
T |
C |
9: 101,052,532 (GRCm39) |
T226A |
possibly damaging |
Het |
| Ptprh |
G |
A |
7: 4,574,780 (GRCm39) |
T413I |
possibly damaging |
Het |
| Rora |
C |
A |
9: 69,281,367 (GRCm39) |
D382E |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,441,879 (GRCm39) |
N1308K |
probably benign |
Het |
| Sgce |
C |
T |
6: 4,707,192 (GRCm39) |
D218N |
possibly damaging |
Het |
| Slc34a3 |
A |
T |
2: 25,122,253 (GRCm39) |
|
probably null |
Het |
| Slit1 |
T |
C |
19: 41,589,074 (GRCm39) |
Y1471C |
probably damaging |
Het |
| Smarca2 |
G |
T |
19: 26,661,209 (GRCm39) |
V935L |
possibly damaging |
Het |
| Smchd1 |
T |
C |
17: 71,688,364 (GRCm39) |
N1298S |
possibly damaging |
Het |
| Sort1 |
T |
A |
3: 108,233,323 (GRCm39) |
|
probably null |
Het |
| Spata13 |
T |
C |
14: 60,989,226 (GRCm39) |
L964P |
probably damaging |
Het |
| Spata31h1 |
G |
A |
10: 82,128,469 (GRCm39) |
L1514F |
probably benign |
Het |
| Trav7-6 |
C |
A |
14: 53,954,552 (GRCm39) |
D47E |
probably benign |
Het |
| Ubap2l |
A |
G |
3: 89,917,803 (GRCm39) |
F864L |
unknown |
Het |
| Vmn2r102 |
C |
T |
17: 19,914,363 (GRCm39) |
P643S |
probably damaging |
Het |
| Zfp112 |
T |
A |
7: 23,824,604 (GRCm39) |
C195S |
possibly damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
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 |
|
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 |
|
|
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'- TAAGAAGACTGGAGGCTCCTG -3'
(R):5'- GAAGAAGGTGCAGCTGCTTC -3'
Sequencing Primer
(F):5'- AGGCTCCTGCTGGAAACGTTC -3'
(R):5'- TGCAGCTGCTTCCACAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation