Incidental Mutation 'R4529:Gm12185'
ID |
333041 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm12185
|
Ensembl Gene |
ENSMUSG00000048852 |
Gene Name |
predicted gene 12185 |
Synonyms |
|
MMRRC Submission |
041592-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R4529 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
48795483-48818009 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 48798747 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 582
(Y582C)
|
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: Y582C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000054351 Gene: ENSMUSG00000048852 AA Change: Y582C
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: Y582C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092049 Gene: ENSMUSG00000048852 AA Change: Y582C
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 |
0.8507 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre1 |
A |
G |
17: 57,727,519 (GRCm39) |
Y483C |
possibly damaging |
Het |
Akap9 |
T |
A |
5: 4,093,948 (GRCm39) |
F2157I |
probably damaging |
Het |
Aldh1a3 |
T |
C |
7: 66,051,742 (GRCm39) |
N404D |
probably benign |
Het |
Ankrd2 |
A |
T |
19: 42,032,240 (GRCm39) |
I231F |
probably benign |
Het |
Apba1 |
A |
G |
19: 23,913,899 (GRCm39) |
N641D |
probably damaging |
Het |
C1qbp |
T |
C |
11: 70,869,550 (GRCm39) |
T178A |
probably benign |
Het |
Chtf18 |
T |
C |
17: 25,939,592 (GRCm39) |
Y64C |
probably damaging |
Het |
Cyp1a1 |
A |
G |
9: 57,608,962 (GRCm39) |
H281R |
probably benign |
Het |
Ehmt2 |
A |
G |
17: 35,132,707 (GRCm39) |
I1235V |
probably damaging |
Het |
Fcamr |
A |
G |
1: 130,732,313 (GRCm39) |
H44R |
probably damaging |
Het |
Gm5460 |
A |
C |
14: 33,767,769 (GRCm39) |
D459A |
probably damaging |
Het |
H2-Q6 |
C |
T |
17: 35,644,820 (GRCm39) |
T203I |
probably null |
Het |
Inmt |
T |
C |
6: 55,148,012 (GRCm39) |
M206V |
probably benign |
Het |
Khdc3 |
T |
C |
9: 73,011,301 (GRCm39) |
S360P |
possibly damaging |
Het |
Lin54 |
G |
A |
5: 100,594,419 (GRCm39) |
T582I |
possibly damaging |
Het |
Ltbp1 |
T |
G |
17: 75,458,355 (GRCm39) |
V312G |
probably benign |
Het |
Nlrp9a |
T |
C |
7: 26,270,832 (GRCm39) |
L899P |
probably damaging |
Het |
Or6c1b |
T |
C |
10: 129,273,287 (GRCm39) |
V202A |
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 |
Pappa |
A |
G |
4: 65,149,419 (GRCm39) |
I920V |
probably benign |
Het |
Parp1 |
T |
A |
1: 180,418,877 (GRCm39) |
V679E |
probably damaging |
Het |
Pla2g4f |
C |
T |
2: 120,131,100 (GRCm39) |
R785Q |
probably damaging |
Het |
Plbd1 |
T |
A |
6: 136,628,823 (GRCm39) |
I82F |
probably benign |
Het |
Plekhm3 |
A |
G |
1: 64,976,984 (GRCm39) |
V162A |
probably benign |
Het |
Plin4 |
A |
G |
17: 56,411,274 (GRCm39) |
L919P |
probably damaging |
Het |
Plxna4 |
C |
T |
6: 32,473,831 (GRCm39) |
|
probably null |
Het |
Pou3f3 |
C |
A |
1: 42,737,714 (GRCm39) |
T470K |
probably benign |
Het |
Prss38 |
T |
C |
11: 59,264,325 (GRCm39) |
Y214C |
probably damaging |
Het |
Retreg1 |
T |
A |
15: 25,968,600 (GRCm39) |
Y109N |
probably damaging |
Het |
Slco1c1 |
A |
G |
6: 141,500,907 (GRCm39) |
Y413C |
probably damaging |
Het |
Stk32a |
T |
C |
18: 43,376,044 (GRCm39) |
C38R |
possibly damaging |
Het |
Themis |
T |
C |
10: 28,658,331 (GRCm39) |
F453L |
possibly damaging |
Het |
Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
Tubgcp3 |
G |
T |
8: 12,713,932 (GRCm39) |
L62I |
probably damaging |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Xpo7 |
G |
A |
14: 70,906,188 (GRCm39) |
T986M |
probably damaging |
Het |
Zfp51 |
C |
T |
17: 21,684,998 (GRCm39) |
L538F |
probably damaging |
Het |
Zfy1 |
A |
G |
Y: 726,511 (GRCm39) |
L418S |
possibly damaging |
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 |
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 |
|
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'- ATCATGAAGAGGTGGCGCTTG -3'
(R):5'- GACAATATGGGACCTGCCTG -3'
Sequencing Primer
(F):5'- TTTGGGAAGTCAAAGTCAGACACATC -3'
(R):5'- TGCCTGGCATTGGGTCAAC -3'
|
Posted On |
2015-08-18 |