Incidental Mutation 'IGL03386:Gm3604'
| ID |
420873 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm3604
|
| Ensembl Gene |
ENSMUSG00000094942 |
| Gene Name |
predicted gene 3604 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
IGL03386
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
62516142-62530991 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 62517981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 105
(E105D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144048
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107989]
[ENSMUST00000187656]
[ENSMUST00000202194]
|
| AlphaFold |
A0A087WPN2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107989
AA Change: T125S
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000103623
Gene: ENSMUSG00000094942
AA Change: T125S
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
3 |
65 |
4.49e-17 |
SMART |
|
ZnF_C2H2
|
132 |
154 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
160 |
182 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
188 |
210 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
216 |
238 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
244 |
266 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
272 |
294 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
300 |
322 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
328 |
350 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
356 |
378 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
384 |
406 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
412 |
434 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
440 |
462 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
468 |
490 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
496 |
518 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
524 |
546 |
2.29e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187656
AA Change: T126S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000139845
Gene: ENSMUSG00000094942
AA Change: T126S
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
66 |
1.9e-19 |
SMART |
|
ZnF_C2H2
|
133 |
155 |
1.2e-4 |
SMART |
|
ZnF_C2H2
|
161 |
183 |
5.5e-7 |
SMART |
|
ZnF_C2H2
|
189 |
211 |
2.3e-6 |
SMART |
|
ZnF_C2H2
|
217 |
239 |
7.5e-6 |
SMART |
|
ZnF_C2H2
|
245 |
267 |
3.4e-5 |
SMART |
|
ZnF_C2H2
|
273 |
295 |
1.5e-6 |
SMART |
|
ZnF_C2H2
|
301 |
323 |
1.7e-6 |
SMART |
|
ZnF_C2H2
|
329 |
351 |
3.7e-6 |
SMART |
|
ZnF_C2H2
|
357 |
379 |
6.3e-5 |
SMART |
|
ZnF_C2H2
|
385 |
407 |
7.8e-5 |
SMART |
|
ZnF_C2H2
|
413 |
435 |
5.5e-7 |
SMART |
|
ZnF_C2H2
|
441 |
463 |
2e-6 |
SMART |
|
ZnF_C2H2
|
469 |
491 |
5.8e-7 |
SMART |
|
ZnF_C2H2
|
497 |
519 |
1.6e-6 |
SMART |
|
ZnF_C2H2
|
525 |
547 |
9.6e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202194
AA Change: E105D
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144048
Gene: ENSMUSG00000094942
AA Change: E105D
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
65 |
1.2e-19 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
T |
C |
15: 96,259,455 (GRCm39) |
F236L |
probably damaging |
Het |
| AU018091 |
T |
C |
7: 3,211,107 (GRCm39) |
Y274C |
probably damaging |
Het |
| BC024139 |
A |
G |
15: 76,005,945 (GRCm39) |
F419L |
probably benign |
Het |
| Cd300ld |
T |
G |
11: 114,874,998 (GRCm39) |
D212A |
probably benign |
Het |
| Ces1g |
T |
C |
8: 94,052,440 (GRCm39) |
H283R |
probably benign |
Het |
| Chac2 |
T |
A |
11: 30,927,720 (GRCm39) |
K66N |
probably benign |
Het |
| Emc1 |
T |
C |
4: 139,091,092 (GRCm39) |
|
probably null |
Het |
| Eml6 |
G |
A |
11: 29,699,934 (GRCm39) |
A1734V |
probably benign |
Het |
| Erich3 |
G |
A |
3: 154,444,876 (GRCm39) |
E548K |
possibly damaging |
Het |
| Gpr158 |
A |
G |
2: 21,831,057 (GRCm39) |
K719R |
probably damaging |
Het |
| Heatr6 |
T |
C |
11: 83,650,203 (GRCm39) |
S220P |
probably damaging |
Het |
| Kcnip4 |
T |
C |
5: 48,639,889 (GRCm39) |
Y74C |
probably damaging |
Het |
| Kmt2b |
T |
C |
7: 30,273,396 (GRCm39) |
H2380R |
possibly damaging |
Het |
| Lars2 |
A |
T |
9: 123,282,455 (GRCm39) |
K680* |
probably null |
Het |
| Macc1 |
T |
A |
12: 119,409,598 (GRCm39) |
M122K |
probably benign |
Het |
| Pbrm1 |
A |
G |
14: 30,772,049 (GRCm39) |
D381G |
probably damaging |
Het |
| Phf11d |
A |
G |
14: 59,599,309 (GRCm39) |
|
probably benign |
Het |
| Qrsl1 |
A |
G |
10: 43,752,546 (GRCm39) |
Y426H |
possibly damaging |
Het |
| Riok1 |
T |
A |
13: 38,241,213 (GRCm39) |
L456* |
probably null |
Het |
| Rps6kc1 |
A |
G |
1: 190,531,767 (GRCm39) |
L745P |
probably damaging |
Het |
| Sh3tc2 |
A |
T |
18: 62,106,382 (GRCm39) |
H137L |
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,069,315 (GRCm39) |
K704E |
possibly damaging |
Het |
| Shroom3 |
T |
A |
5: 93,096,342 (GRCm39) |
|
probably benign |
Het |
| Stac2 |
T |
A |
11: 97,931,966 (GRCm39) |
Q103L |
possibly damaging |
Het |
| Thnsl1 |
G |
A |
2: 21,216,359 (GRCm39) |
A38T |
probably benign |
Het |
| Traf3ip2 |
A |
G |
10: 39,521,704 (GRCm39) |
I421V |
probably benign |
Het |
| Vmn2r14 |
T |
C |
5: 109,368,350 (GRCm39) |
D214G |
possibly damaging |
Het |
|
| Other mutations in Gm3604 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01869:Gm3604
|
APN |
13 |
62,517,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02601:Gm3604
|
APN |
13 |
62,517,990 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1539:Gm3604
|
UTSW |
13 |
62,519,414 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1771:Gm3604
|
UTSW |
13 |
62,517,888 (GRCm39) |
nonsense |
probably null |
|
|
R1776:Gm3604
|
UTSW |
13 |
62,517,888 (GRCm39) |
nonsense |
probably null |
|
|
R1919:Gm3604
|
UTSW |
13 |
62,517,756 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1954:Gm3604
|
UTSW |
13 |
62,517,025 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2093:Gm3604
|
UTSW |
13 |
62,517,420 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2291:Gm3604
|
UTSW |
13 |
62,519,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2909:Gm3604
|
UTSW |
13 |
62,516,832 (GRCm39) |
missense |
probably benign |
0.43 |
|
R3195:Gm3604
|
UTSW |
13 |
62,517,868 (GRCm39) |
nonsense |
probably null |
|
|
R3196:Gm3604
|
UTSW |
13 |
62,517,868 (GRCm39) |
nonsense |
probably null |
|
|
R3924:Gm3604
|
UTSW |
13 |
62,518,044 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4328:Gm3604
|
UTSW |
13 |
62,517,079 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4543:Gm3604
|
UTSW |
13 |
62,517,970 (GRCm39) |
missense |
probably benign |
|
|
R4830:Gm3604
|
UTSW |
13 |
62,516,857 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5129:Gm3604
|
UTSW |
13 |
62,517,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5496:Gm3604
|
UTSW |
13 |
62,519,393 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6184:Gm3604
|
UTSW |
13 |
62,519,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6426:Gm3604
|
UTSW |
13 |
62,517,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6925:Gm3604
|
UTSW |
13 |
62,517,204 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7080:Gm3604
|
UTSW |
13 |
62,518,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7182:Gm3604
|
UTSW |
13 |
62,519,689 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7572:Gm3604
|
UTSW |
13 |
62,518,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7750:Gm3604
|
UTSW |
13 |
62,517,810 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7960:Gm3604
|
UTSW |
13 |
62,517,587 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8023:Gm3604
|
UTSW |
13 |
62,517,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8062:Gm3604
|
UTSW |
13 |
62,518,155 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8093:Gm3604
|
UTSW |
13 |
62,517,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8532:Gm3604
|
UTSW |
13 |
62,516,769 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9262:Gm3604
|
UTSW |
13 |
62,517,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9659:Gm3604
|
UTSW |
13 |
62,519,724 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9673:Gm3604
|
UTSW |
13 |
62,517,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9788:Gm3604
|
UTSW |
13 |
62,519,724 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2016-08-02 |
Incidental Mutation