Incidental Mutation 'R3011:Gm14403'
ID |
257499 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm14403
|
Ensembl Gene |
ENSMUSG00000094786 |
Gene Name |
predicted gene 14403 |
Synonyms |
|
MMRRC Submission |
040533-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.145)
|
Stock # |
R3011 (G1)
|
Quality Score |
140 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
177190008-177201556 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 177200786 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 244
(D244G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104575
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108940]
[ENSMUST00000108947]
|
AlphaFold |
A2BFU4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000108940
|
SMART Domains |
Protein: ENSMUSP00000104568 Gene: ENSMUSG00000094786
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
73 |
1.34e-11 |
PROSPERO |
internal_repeat_1
|
169 |
241 |
1.34e-11 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108947
AA Change: D244G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000104575 Gene: ENSMUSG00000094786 AA Change: D244G
Domain | Start | End | E-Value | Type |
KRAB
|
4 |
66 |
4.86e-13 |
SMART |
ZnF_C2H2
|
76 |
97 |
2.31e2 |
SMART |
ZnF_C2H2
|
103 |
125 |
1.2e-3 |
SMART |
ZnF_C2H2
|
131 |
153 |
1.18e-2 |
SMART |
ZnF_C2H2
|
159 |
179 |
4.57e0 |
SMART |
ZnF_C2H2
|
187 |
209 |
5.59e-4 |
SMART |
ZnF_C2H2
|
215 |
237 |
1.12e-3 |
SMART |
ZnF_C2H2
|
243 |
265 |
1.18e-2 |
SMART |
ZnF_C2H2
|
271 |
293 |
8.6e-5 |
SMART |
ZnF_C2H2
|
299 |
321 |
3.16e-3 |
SMART |
ZnF_C2H2
|
327 |
349 |
1.84e-4 |
SMART |
ZnF_C2H2
|
355 |
377 |
3.44e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142549
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
100% (29/29) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap31 |
A |
C |
16: 38,422,269 (GRCm39) |
C1266G |
possibly damaging |
Het |
Brme1 |
C |
A |
8: 84,893,539 (GRCm39) |
Y235* |
probably null |
Het |
Cers5 |
A |
G |
15: 99,670,598 (GRCm39) |
|
probably benign |
Het |
Clasp2 |
C |
T |
9: 113,730,581 (GRCm39) |
T905M |
probably damaging |
Het |
Clec16a |
A |
G |
16: 10,428,975 (GRCm39) |
N469S |
probably benign |
Het |
Commd3 |
T |
A |
2: 18,679,499 (GRCm39) |
V128D |
probably damaging |
Het |
Cped1 |
A |
G |
6: 22,088,695 (GRCm39) |
T253A |
probably damaging |
Het |
Dnajc5b |
A |
T |
3: 19,600,966 (GRCm39) |
Y21F |
probably damaging |
Het |
Fhip2a |
T |
A |
19: 57,373,720 (GRCm39) |
L660Q |
probably damaging |
Het |
Gm5414 |
T |
C |
15: 101,534,047 (GRCm39) |
D312G |
probably damaging |
Het |
Ifi204 |
T |
C |
1: 173,579,217 (GRCm39) |
S543G |
probably benign |
Het |
Itga11 |
T |
A |
9: 62,604,262 (GRCm39) |
I50N |
probably damaging |
Het |
Lct |
C |
T |
1: 128,229,109 (GRCm39) |
V795I |
possibly damaging |
Het |
Lrrc37 |
T |
A |
11: 103,503,929 (GRCm39) |
T504S |
possibly damaging |
Het |
Map2 |
A |
G |
1: 66,453,771 (GRCm39) |
D887G |
probably damaging |
Het |
Mgat4e |
T |
A |
1: 134,469,846 (GRCm39) |
D66V |
possibly damaging |
Het |
Nqo1 |
C |
T |
8: 108,115,743 (GRCm39) |
R178H |
probably benign |
Het |
Or13e8 |
G |
T |
4: 43,696,624 (GRCm39) |
A183E |
probably damaging |
Het |
Or5h22 |
A |
G |
16: 58,895,350 (GRCm39) |
V31A |
probably benign |
Het |
Otof |
G |
A |
5: 30,540,184 (GRCm39) |
A999V |
probably damaging |
Het |
Phf20 |
A |
G |
2: 156,129,946 (GRCm39) |
D506G |
probably benign |
Het |
Pth2r |
C |
T |
1: 65,376,147 (GRCm39) |
H97Y |
probably benign |
Het |
Snx18 |
G |
A |
13: 113,753,422 (GRCm39) |
Q504* |
probably null |
Het |
Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
Srgap2 |
T |
A |
1: 131,238,329 (GRCm39) |
Q520L |
probably damaging |
Het |
Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
Tlr4 |
A |
T |
4: 66,757,491 (GRCm39) |
K95* |
probably null |
Het |
Tmem59l |
A |
T |
8: 70,938,887 (GRCm39) |
C96S |
probably damaging |
Het |
Tmtc3 |
G |
T |
10: 100,283,444 (GRCm39) |
P704T |
possibly damaging |
Het |
Upp2 |
T |
C |
2: 58,680,107 (GRCm39) |
V293A |
probably damaging |
Het |
Vps72 |
A |
G |
3: 95,026,585 (GRCm39) |
K177E |
probably damaging |
Het |
|
Other mutations in Gm14403 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01835:Gm14403
|
APN |
2 |
177,199,049 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02660:Gm14403
|
APN |
2 |
177,201,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R0492:Gm14403
|
UTSW |
2 |
177,200,359 (GRCm39) |
missense |
probably benign |
0.09 |
R0932:Gm14403
|
UTSW |
2 |
177,198,810 (GRCm39) |
missense |
probably benign |
0.01 |
R0975:Gm14403
|
UTSW |
2 |
177,201,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:Gm14403
|
UTSW |
2 |
177,199,024 (GRCm39) |
splice site |
probably benign |
|
R1853:Gm14403
|
UTSW |
2 |
177,200,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R3803:Gm14403
|
UTSW |
2 |
177,200,569 (GRCm39) |
missense |
probably benign |
0.04 |
R4589:Gm14403
|
UTSW |
2 |
177,200,428 (GRCm39) |
missense |
probably benign |
0.29 |
R4805:Gm14403
|
UTSW |
2 |
177,200,492 (GRCm39) |
missense |
probably damaging |
0.97 |
R5085:Gm14403
|
UTSW |
2 |
177,200,282 (GRCm39) |
missense |
probably benign |
0.04 |
R5311:Gm14403
|
UTSW |
2 |
177,201,448 (GRCm39) |
unclassified |
probably benign |
|
R5425:Gm14403
|
UTSW |
2 |
177,201,448 (GRCm39) |
unclassified |
probably benign |
|
R5643:Gm14403
|
UTSW |
2 |
177,199,054 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5644:Gm14403
|
UTSW |
2 |
177,199,054 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5739:Gm14403
|
UTSW |
2 |
177,201,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R5982:Gm14403
|
UTSW |
2 |
177,200,345 (GRCm39) |
missense |
probably damaging |
0.98 |
R6197:Gm14403
|
UTSW |
2 |
177,201,448 (GRCm39) |
unclassified |
probably benign |
|
R6198:Gm14403
|
UTSW |
2 |
177,201,448 (GRCm39) |
unclassified |
probably benign |
|
R6892:Gm14403
|
UTSW |
2 |
177,201,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R7090:Gm14403
|
UTSW |
2 |
177,201,114 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7168:Gm14403
|
UTSW |
2 |
177,201,318 (GRCm39) |
missense |
probably damaging |
0.96 |
R7510:Gm14403
|
UTSW |
2 |
177,200,403 (GRCm39) |
missense |
probably benign |
0.01 |
R7623:Gm14403
|
UTSW |
2 |
177,200,405 (GRCm39) |
missense |
probably benign |
|
R8049:Gm14403
|
UTSW |
2 |
177,200,311 (GRCm39) |
missense |
probably benign |
0.00 |
R8557:Gm14403
|
UTSW |
2 |
177,201,354 (GRCm39) |
missense |
probably damaging |
0.99 |
R9224:Gm14403
|
UTSW |
2 |
177,200,336 (GRCm39) |
missense |
probably benign |
|
R9333:Gm14403
|
UTSW |
2 |
177,200,919 (GRCm39) |
missense |
probably benign |
0.42 |
R9632:Gm14403
|
UTSW |
2 |
177,201,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGTTCTGCAGAGCAACCCT -3'
(R):5'- GCAAAGGCTTTACCACATTGGT -3'
Sequencing Primer
(F):5'- AGCCTTTGCAAGAAGCTGTC -3'
(R):5'- CCACATTGGTTACATTCATAGGG -3'
|
Posted On |
2015-01-11 |