Incidental Mutation 'R1558:Gm12185'
ID |
170432 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm12185
|
Ensembl Gene |
ENSMUSG00000048852 |
Gene Name |
predicted gene 12185 |
Synonyms |
|
MMRRC Submission |
039597-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R1558 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
48795483-48818009 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 48806262 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 310
(S310P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092049
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059930]
[ENSMUST00000094476]
|
AlphaFold |
Q5NCB2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000059930
AA Change: S310P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000054351 Gene: ENSMUSG00000048852 AA Change: S310P
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 damaging
Transcript: ENSMUST00000094476
AA Change: S310P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000092049 Gene: ENSMUSG00000048852 AA Change: S310P
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: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
T |
A |
4: 53,092,887 (GRCm39) |
Q299L |
probably null |
Het |
Adamts9 |
T |
G |
6: 92,885,692 (GRCm39) |
K399N |
possibly damaging |
Het |
Alox12b |
T |
C |
11: 69,056,711 (GRCm39) |
F369S |
probably damaging |
Het |
Alpk2 |
A |
G |
18: 65,483,301 (GRCm39) |
Y236H |
probably benign |
Het |
Ankrd36 |
T |
C |
11: 5,585,329 (GRCm39) |
L380P |
probably damaging |
Het |
Atp2a1 |
C |
T |
7: 126,051,844 (GRCm39) |
A468T |
possibly damaging |
Het |
Caprin1 |
A |
T |
2: 103,606,332 (GRCm39) |
F303I |
possibly damaging |
Het |
Casp7 |
A |
T |
19: 56,421,684 (GRCm39) |
R41* |
probably null |
Het |
Ccdc66 |
T |
A |
14: 27,208,463 (GRCm39) |
H753L |
probably benign |
Het |
Ccnc |
T |
C |
4: 21,742,671 (GRCm39) |
M166T |
probably benign |
Het |
Cdkl3 |
T |
A |
11: 51,923,337 (GRCm39) |
M538K |
possibly damaging |
Het |
Cemip2 |
T |
A |
19: 21,775,346 (GRCm39) |
Y196* |
probably null |
Het |
Cercam |
G |
A |
2: 29,766,251 (GRCm39) |
A345T |
probably benign |
Het |
Chmp3 |
T |
A |
6: 71,537,954 (GRCm39) |
C60* |
probably null |
Het |
Ddx1 |
C |
T |
12: 13,289,542 (GRCm39) |
G125S |
probably damaging |
Het |
Defb7 |
A |
G |
8: 19,547,567 (GRCm39) |
D24G |
probably benign |
Het |
Dgcr8 |
A |
T |
16: 18,077,452 (GRCm39) |
Y653N |
probably damaging |
Het |
Dsc2 |
T |
C |
18: 20,183,208 (GRCm39) |
D70G |
probably damaging |
Het |
Erich3 |
T |
G |
3: 154,419,705 (GRCm39) |
N266K |
probably damaging |
Het |
Fastk |
A |
T |
5: 24,649,045 (GRCm39) |
|
probably null |
Het |
Fat4 |
A |
G |
3: 38,943,135 (GRCm39) |
N676S |
probably damaging |
Het |
Fermt1 |
A |
T |
2: 132,776,739 (GRCm39) |
|
probably null |
Het |
Fmn1 |
A |
G |
2: 113,523,463 (GRCm39) |
T1149A |
possibly damaging |
Het |
Foxo3 |
A |
G |
10: 42,073,068 (GRCm39) |
V483A |
probably damaging |
Het |
Fpgs |
T |
C |
2: 32,575,852 (GRCm39) |
T364A |
possibly damaging |
Het |
Gm15056 |
A |
T |
8: 21,391,949 (GRCm39) |
|
probably benign |
Het |
Hcn1 |
T |
C |
13: 118,112,112 (GRCm39) |
V692A |
unknown |
Het |
Izumo3 |
A |
C |
4: 92,035,140 (GRCm39) |
C26G |
probably damaging |
Het |
Kcnf1 |
T |
C |
12: 17,225,474 (GRCm39) |
Y249C |
probably damaging |
Het |
Kcnj6 |
T |
C |
16: 94,563,358 (GRCm39) |
E380G |
possibly damaging |
Het |
Kdm3b |
A |
G |
18: 34,942,149 (GRCm39) |
T747A |
probably damaging |
Het |
Lrba |
G |
A |
3: 86,258,622 (GRCm39) |
G1370R |
probably damaging |
Het |
Mei1 |
G |
A |
15: 81,991,334 (GRCm39) |
R504Q |
probably damaging |
Het |
Mgat4f |
G |
A |
1: 134,318,512 (GRCm39) |
G428D |
probably damaging |
Het |
Mipol1 |
T |
C |
12: 57,379,127 (GRCm39) |
I195T |
probably damaging |
Het |
Ncor2 |
G |
A |
5: 125,110,610 (GRCm39) |
T1350I |
probably damaging |
Het |
Npy |
A |
G |
6: 49,800,705 (GRCm39) |
E43G |
probably damaging |
Het |
Or4e5 |
T |
A |
14: 52,727,603 (GRCm39) |
I273F |
probably benign |
Het |
Or5w19 |
T |
A |
2: 87,698,459 (GRCm39) |
N41K |
probably damaging |
Het |
Or8d2 |
T |
A |
9: 38,760,200 (GRCm39) |
N263K |
probably benign |
Het |
Pcdhb3 |
T |
C |
18: 37,434,634 (GRCm39) |
L200P |
probably damaging |
Het |
Pcnt |
G |
A |
10: 76,258,756 (GRCm39) |
H570Y |
possibly damaging |
Het |
Phf8-ps |
T |
A |
17: 33,284,679 (GRCm39) |
I708F |
probably benign |
Het |
Pkd1l2 |
A |
C |
8: 117,808,991 (GRCm39) |
D66E |
possibly damaging |
Het |
Plekhg4 |
A |
G |
8: 106,108,467 (GRCm39) |
D1170G |
possibly damaging |
Het |
Poln |
T |
A |
5: 34,190,143 (GRCm39) |
H672L |
probably benign |
Het |
Ptprq |
T |
C |
10: 107,479,904 (GRCm39) |
Y1122C |
probably damaging |
Het |
Ptrhd1 |
A |
G |
12: 4,286,505 (GRCm39) |
Y132C |
probably damaging |
Het |
Pwwp3a |
G |
T |
10: 80,068,778 (GRCm39) |
R307S |
probably benign |
Het |
Riok1 |
G |
T |
13: 38,234,831 (GRCm39) |
R300L |
probably damaging |
Het |
Sbf2 |
G |
T |
7: 110,027,553 (GRCm39) |
T481K |
probably damaging |
Het |
Sidt2 |
A |
T |
9: 45,863,098 (GRCm39) |
M11K |
probably damaging |
Het |
Slc66a1 |
A |
T |
4: 139,027,391 (GRCm39) |
|
probably benign |
Het |
Syne1 |
G |
A |
10: 5,299,280 (GRCm39) |
R992* |
probably null |
Het |
Tmem8b |
C |
A |
4: 43,681,134 (GRCm39) |
R384S |
possibly damaging |
Het |
Trim28 |
T |
C |
7: 12,761,761 (GRCm39) |
Y243H |
probably damaging |
Het |
Trpm6 |
T |
C |
19: 18,764,192 (GRCm39) |
M266T |
probably benign |
Het |
Tsg101 |
A |
T |
7: 46,539,437 (GRCm39) |
S368T |
probably damaging |
Het |
Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
Ttc6 |
G |
A |
12: 57,733,132 (GRCm39) |
V1092I |
probably benign |
Het |
Vps13b |
C |
T |
15: 35,534,465 (GRCm39) |
T927I |
probably damaging |
Het |
Zfr |
C |
T |
15: 12,140,730 (GRCm39) |
T259I |
unknown |
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 |
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 |
48,798,921 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4533:Gm12185
|
UTSW |
11 |
48,798,747 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TAGCATCACTCGCAACCGTGTC -3'
(R):5'- TGACTTCCCAAAGCTGGAATCCAC -3'
Sequencing Primer
(F):5'- CAACCGTGTCTATGAAATAATTTTGC -3'
(R):5'- AAGCTGGAATCCACCCTTCTC -3'
|
Posted On |
2014-04-13 |