Incidental Mutation 'IGL01835:Gm14403'
| ID |
154929 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm14403
|
| Ensembl Gene |
ENSMUSG00000094786 |
| Gene Name |
predicted gene 14403 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
IGL01835
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
177190008-177201556 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 177199049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 48
(E48D)
|
| 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 damaging
Transcript: ENSMUST00000108947
AA Change: E48D
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104575
Gene: ENSMUSG00000094786
AA Change: E48D
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,213,957 (GRCm39) |
M728K |
probably benign |
Het |
| 2700049A03Rik |
T |
A |
12: 71,213,955 (GRCm39) |
Y727* |
probably null |
Het |
| Adam23 |
T |
C |
1: 63,582,278 (GRCm39) |
Y309H |
probably damaging |
Het |
| Ash2l |
C |
T |
8: 26,329,868 (GRCm39) |
V97M |
probably damaging |
Het |
| Cyp4f13 |
A |
G |
17: 33,149,588 (GRCm39) |
F83L |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,112,784 (GRCm39) |
S1607T |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,260,435 (GRCm39) |
M969L |
possibly damaging |
Het |
| Dse |
T |
A |
10: 34,036,213 (GRCm39) |
|
probably benign |
Het |
| Dusp22 |
C |
T |
13: 30,892,666 (GRCm39) |
|
probably null |
Het |
| F5 |
G |
A |
1: 164,021,937 (GRCm39) |
V1471I |
probably benign |
Het |
| Gm6309 |
G |
A |
5: 146,105,085 (GRCm39) |
A276V |
probably damaging |
Het |
| Icam4 |
A |
T |
9: 20,941,086 (GRCm39) |
T113S |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 121,163,650 (GRCm39) |
V236A |
probably benign |
Het |
| Mrc2 |
T |
G |
11: 105,227,503 (GRCm39) |
F579V |
probably damaging |
Het |
| Myl4 |
T |
A |
11: 104,468,279 (GRCm39) |
M1K |
probably null |
Het |
| Oas3 |
A |
T |
5: 120,904,193 (GRCm39) |
C560* |
probably null |
Het |
| Or2w25 |
T |
C |
11: 59,504,165 (GRCm39) |
V125A |
probably damaging |
Het |
| Or52e18 |
T |
C |
7: 104,609,669 (GRCm39) |
N90S |
probably benign |
Het |
| Prlr |
G |
A |
15: 10,329,129 (GRCm39) |
V535I |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 76,165,058 (GRCm39) |
T48A |
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,131,461 (GRCm39) |
H485R |
possibly damaging |
Het |
| Rnf13 |
A |
T |
3: 57,728,007 (GRCm39) |
H229L |
probably damaging |
Het |
| Rpap3 |
T |
C |
15: 97,601,120 (GRCm39) |
D39G |
possibly damaging |
Het |
| Sec23ip |
T |
A |
7: 128,357,035 (GRCm39) |
|
probably null |
Het |
| Sirpa |
T |
A |
2: 129,457,484 (GRCm39) |
F186Y |
possibly damaging |
Het |
| Slc26a11 |
T |
C |
11: 119,268,040 (GRCm39) |
Y473H |
probably benign |
Het |
| Slc36a2 |
T |
C |
11: 55,053,559 (GRCm39) |
I360V |
probably benign |
Het |
| Spg11 |
G |
A |
2: 121,918,705 (GRCm39) |
R975C |
probably benign |
Het |
| Sppl2b |
T |
A |
10: 80,701,175 (GRCm39) |
I350N |
probably damaging |
Het |
| Tas2r139 |
A |
T |
6: 42,118,366 (GRCm39) |
N166I |
probably benign |
Het |
| Trav14n-3 |
A |
G |
14: 53,607,786 (GRCm39) |
T39A |
possibly damaging |
Het |
| Vmn2r61 |
A |
G |
7: 41,950,015 (GRCm39) |
M812V |
probably benign |
Het |
| Vmn2r87 |
A |
C |
10: 130,314,978 (GRCm39) |
F203V |
probably damaging |
Het |
| Vwde |
A |
C |
6: 13,186,823 (GRCm39) |
V888G |
probably benign |
Het |
| Zbtb17 |
T |
C |
4: 141,192,749 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Gm14403 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R3011:Gm14403
|
UTSW |
2 |
177,200,786 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation