Incidental Mutation 'IGL02660:Gm14403'
| ID |
302523 |
| 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: 0.145)
|
| Stock # |
IGL02660
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
177190008-177201556 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 177201257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 401
(H401L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108940]
[ENSMUST00000108947]
|
| AlphaFold |
A2BFU4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108940
AA Change: I159L
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104568
Gene: ENSMUSG00000094786
AA Change: I159L
| 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: H401L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104575
Gene: ENSMUSG00000094786
AA Change: H401L
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030458C11Rik |
A |
G |
15: 12,810,853 (GRCm39) |
L341P |
probably damaging |
Het |
| Abcd3 |
A |
C |
3: 121,577,669 (GRCm39) |
N206K |
probably damaging |
Het |
| Adamtsl1 |
A |
G |
4: 86,150,847 (GRCm39) |
D335G |
probably damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,823,816 (GRCm39) |
M150K |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,115,446 (GRCm39) |
D680G |
probably benign |
Het |
| Asxl3 |
T |
A |
18: 22,657,402 (GRCm39) |
V1804D |
probably damaging |
Het |
| Bace2 |
T |
C |
16: 97,216,340 (GRCm39) |
V311A |
probably damaging |
Het |
| C2cd4c |
T |
A |
10: 79,449,136 (GRCm39) |
T4S |
probably benign |
Het |
| C2cd6 |
T |
C |
1: 59,090,389 (GRCm39) |
Y456C |
probably damaging |
Het |
| Cbr1 |
A |
G |
16: 93,406,712 (GRCm39) |
S143G |
probably benign |
Het |
| Ccdc191 |
A |
G |
16: 43,780,462 (GRCm39) |
T815A |
probably benign |
Het |
| Cenpf |
T |
A |
1: 189,386,979 (GRCm39) |
Q1767L |
probably damaging |
Het |
| Col6a5 |
A |
C |
9: 105,814,085 (GRCm39) |
N642K |
unknown |
Het |
| Dcaf10 |
G |
A |
4: 45,372,769 (GRCm39) |
R394Q |
possibly damaging |
Het |
| Ephb1 |
A |
T |
9: 101,918,291 (GRCm39) |
I406N |
possibly damaging |
Het |
| F13a1 |
A |
G |
13: 37,127,868 (GRCm39) |
V370A |
possibly damaging |
Het |
| Gp6 |
T |
G |
7: 4,387,997 (GRCm39) |
R157S |
probably benign |
Het |
| Gucy2e |
G |
A |
11: 69,122,833 (GRCm39) |
T514I |
probably benign |
Het |
| H2ac1 |
T |
C |
13: 24,118,608 (GRCm39) |
V55A |
probably damaging |
Het |
| Mok |
A |
G |
12: 110,794,499 (GRCm39) |
I63T |
probably damaging |
Het |
| Otop1 |
T |
C |
5: 38,445,349 (GRCm39) |
V169A |
probably damaging |
Het |
| Pdzph1 |
T |
A |
17: 59,187,642 (GRCm39) |
T1193S |
probably damaging |
Het |
| Plekha7 |
A |
G |
7: 115,756,809 (GRCm39) |
|
probably benign |
Het |
| Plekhm1 |
A |
T |
11: 103,264,920 (GRCm39) |
|
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,435,787 (GRCm39) |
Y587H |
probably damaging |
Het |
| Scaf1 |
C |
A |
7: 44,661,542 (GRCm39) |
|
probably benign |
Het |
| Sema3f |
A |
T |
9: 107,561,183 (GRCm39) |
F601Y |
probably benign |
Het |
| Shoc2 |
T |
C |
19: 53,976,452 (GRCm39) |
I114T |
probably benign |
Het |
| Skint10 |
T |
A |
4: 112,622,227 (GRCm39) |
|
probably benign |
Het |
| Slc18b1 |
T |
C |
10: 23,686,850 (GRCm39) |
|
probably benign |
Het |
| Slco5a1 |
A |
G |
1: 13,059,860 (GRCm39) |
L287P |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Syncrip |
G |
T |
9: 88,338,457 (GRCm39) |
R536S |
probably benign |
Het |
| Trim5 |
C |
A |
7: 103,915,425 (GRCm39) |
R296L |
probably damaging |
Het |
| Vmn2r60 |
G |
T |
7: 41,791,720 (GRCm39) |
E548* |
probably null |
Het |
| Wdr26 |
A |
T |
1: 181,026,463 (GRCm39) |
W251R |
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 |
|
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 |
2015-04-16 |
Incidental Mutation