Incidental Mutation 'R3083:Gm15446'
| ID |
264065 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm15446
|
| Ensembl Gene |
ENSMUSG00000090015 |
| Gene Name |
predicted gene 15446 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R3083 (G1)
|
| Quality Score |
202 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
110081429-110089576 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110091158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 470
(N470S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112544]
[ENSMUST00000170826]
|
| AlphaFold |
D3Z5Y8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112544
AA Change: N470S
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108163
Gene: ENSMUSG00000090015
AA Change: N470S
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
60 |
1.74e-14 |
SMART |
|
ZnF_C2H2
|
103 |
125 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
131 |
153 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
159 |
181 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
187 |
209 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
215 |
237 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
243 |
265 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
271 |
293 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
299 |
321 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
327 |
349 |
6.99e-5 |
SMART |
|
ZnF_C2H2
|
355 |
377 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
383 |
405 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
411 |
433 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
439 |
461 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
467 |
489 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
495 |
517 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
523 |
545 |
3.21e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146564
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170826
|
| SMART Domains |
Protein: ENSMUSP00000127438
Gene: ENSMUSG00000090015
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
3 |
59 |
1.74e-14 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
A |
G |
10: 106,859,576 (GRCm39) |
V341A |
possibly damaging |
Het |
| Armc2 |
T |
C |
10: 41,842,726 (GRCm39) |
D359G |
probably damaging |
Het |
| Cdh6 |
T |
C |
15: 13,044,838 (GRCm39) |
D428G |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,813,363 (GRCm39) |
N1441D |
probably benign |
Het |
| Fbln1 |
T |
G |
15: 85,149,454 (GRCm39) |
I617S |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Grin3a |
G |
A |
4: 49,665,243 (GRCm39) |
R1131W |
probably benign |
Het |
| H2bc27 |
A |
G |
11: 58,839,802 (GRCm39) |
K13E |
probably benign |
Het |
| Incenp |
T |
A |
19: 9,861,143 (GRCm39) |
M480L |
unknown |
Het |
| Lrp1b |
A |
T |
2: 40,490,336 (GRCm39) |
M275K |
probably damaging |
Het |
| Lrrc14b |
C |
T |
13: 74,511,337 (GRCm39) |
D248N |
possibly damaging |
Het |
| Nlrp5 |
T |
C |
7: 23,129,588 (GRCm39) |
F885S |
probably benign |
Het |
| Or12d2 |
T |
C |
17: 37,625,086 (GRCm39) |
N63S |
probably damaging |
Het |
| Or4c122 |
A |
C |
2: 89,079,345 (GRCm39) |
V231G |
probably damaging |
Het |
| Or8b52 |
A |
G |
9: 38,576,912 (GRCm39) |
V76A |
probably damaging |
Het |
| Plcl2 |
T |
A |
17: 50,994,772 (GRCm39) |
N1080K |
probably benign |
Het |
| Rab3gap2 |
T |
A |
1: 184,936,466 (GRCm39) |
S10T |
probably benign |
Het |
| Rtca |
G |
A |
3: 116,301,674 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,129,981 (GRCm39) |
F1278S |
probably damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,955,928 (GRCm39) |
D948G |
probably benign |
Het |
| Smu1 |
T |
C |
4: 40,745,567 (GRCm39) |
D251G |
probably damaging |
Het |
| Ssh3 |
C |
T |
19: 4,312,587 (GRCm39) |
R586H |
probably benign |
Het |
| Tomm40l |
A |
T |
1: 171,048,780 (GRCm39) |
L78H |
probably damaging |
Het |
| Vmn2r4 |
A |
G |
3: 64,296,788 (GRCm39) |
S666P |
probably damaging |
Het |
|
| Other mutations in Gm15446 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01584:Gm15446
|
APN |
5 |
110,088,668 (GRCm39) |
makesense |
probably null |
|
|
R0278:Gm15446
|
UTSW |
5 |
110,091,281 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0606:Gm15446
|
UTSW |
5 |
110,091,347 (GRCm39) |
missense |
probably benign |
|
|
R1608:Gm15446
|
UTSW |
5 |
110,090,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:Gm15446
|
UTSW |
5 |
110,090,419 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1892:Gm15446
|
UTSW |
5 |
110,091,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2000:Gm15446
|
UTSW |
5 |
110,090,677 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2059:Gm15446
|
UTSW |
5 |
110,090,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3883:Gm15446
|
UTSW |
5 |
110,088,313 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4086:Gm15446
|
UTSW |
5 |
110,091,121 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4095:Gm15446
|
UTSW |
5 |
110,088,590 (GRCm39) |
splice site |
probably null |
|
|
R4459:Gm15446
|
UTSW |
5 |
110,091,107 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4721:Gm15446
|
UTSW |
5 |
110,090,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4735:Gm15446
|
UTSW |
5 |
110,090,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5229:Gm15446
|
UTSW |
5 |
110,091,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5502:Gm15446
|
UTSW |
5 |
110,088,364 (GRCm39) |
nonsense |
probably null |
|
|
R6116:Gm15446
|
UTSW |
5 |
110,090,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6166:Gm15446
|
UTSW |
5 |
110,090,646 (GRCm39) |
nonsense |
probably null |
|
|
R6322:Gm15446
|
UTSW |
5 |
110,091,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7871:Gm15446
|
UTSW |
5 |
110,091,165 (GRCm39) |
nonsense |
probably null |
|
|
R7939:Gm15446
|
UTSW |
5 |
110,090,360 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8045:Gm15446
|
UTSW |
5 |
110,088,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8069:Gm15446
|
UTSW |
5 |
110,088,306 (GRCm39) |
nonsense |
probably null |
|
|
R8528:Gm15446
|
UTSW |
5 |
110,090,896 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9074:Gm15446
|
UTSW |
5 |
110,091,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9198:Gm15446
|
UTSW |
5 |
110,090,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9604:Gm15446
|
UTSW |
5 |
110,088,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9706:Gm15446
|
UTSW |
5 |
110,091,161 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGTAAAGCCTTTGCCTCT -3'
(R):5'- AGGCTTTACCACATTGATCACAT -3'
Sequencing Primer
(F):5'- TTCATACTGGCGAGAAACCTTAC -3'
(R):5'- CCACATTGATCACATTTGTAGGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation