Incidental Mutation 'R8045:Gm15446'
| ID |
618704 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm15446
|
| Ensembl Gene |
ENSMUSG00000090015 |
| Gene Name |
predicted gene 15446 |
| Synonyms |
|
| MMRRC Submission |
067482-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R8045 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
110081429-110089576 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110088394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 36
(T36A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112544]
[ENSMUST00000170826]
|
| AlphaFold |
D3Z5Y8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112544
AA Change: T36A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108163
Gene: ENSMUSG00000090015
AA Change: T36A
| 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 |
possibly damaging
Transcript: ENSMUST00000170826
AA Change: T35A
PolyPhen 2
Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127438
Gene: ENSMUSG00000090015
AA Change: T35A
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
3 |
59 |
1.74e-14 |
SMART |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Anks1b |
A |
G |
10: 90,516,722 (GRCm39) |
I906V |
probably benign |
Het |
| Arhgap29 |
C |
A |
3: 121,801,211 (GRCm39) |
|
silent |
Het |
| Casz1 |
A |
G |
4: 149,017,236 (GRCm39) |
D175G |
probably damaging |
Het |
| Ccdc142 |
T |
C |
6: 83,080,407 (GRCm39) |
L406P |
probably damaging |
Het |
| Ccdc148 |
A |
G |
2: 58,892,083 (GRCm39) |
|
probably null |
Het |
| Ccdc175 |
C |
T |
12: 72,202,676 (GRCm39) |
|
probably benign |
Het |
| Ccdc192 |
A |
T |
18: 57,863,991 (GRCm39) |
D265V |
probably damaging |
Het |
| Cebpz |
A |
G |
17: 79,239,585 (GRCm39) |
I612T |
probably damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,661,243 (GRCm39) |
K535N |
probably damaging |
Het |
| Clcn1 |
T |
C |
6: 42,267,628 (GRCm39) |
Y137H |
probably damaging |
Het |
| Clint1 |
T |
A |
11: 45,781,566 (GRCm39) |
I212N |
possibly damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Crnkl1 |
G |
A |
2: 145,774,851 (GRCm39) |
T29M |
probably damaging |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Disp1 |
T |
C |
1: 182,870,794 (GRCm39) |
Y542C |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,834,648 (GRCm39) |
C3209R |
probably damaging |
Het |
| Igf2bp2 |
T |
A |
16: 21,902,728 (GRCm39) |
D117V |
possibly damaging |
Het |
| Lta4h |
A |
G |
10: 93,304,968 (GRCm39) |
Y257C |
probably damaging |
Het |
| Mamstr |
T |
A |
7: 45,293,827 (GRCm39) |
L301Q |
probably damaging |
Het |
| Mllt3 |
A |
G |
4: 87,759,350 (GRCm39) |
S233P |
probably damaging |
Het |
| Myh7b |
A |
T |
2: 155,455,101 (GRCm39) |
D42V |
probably benign |
Het |
| Ncam1 |
T |
C |
9: 49,418,736 (GRCm39) |
T855A |
|
Het |
| Ogfr |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,850 (GRCm39) |
|
probably benign |
Het |
| Or56a41 |
A |
T |
7: 104,740,190 (GRCm39) |
S219T |
probably benign |
Het |
| Or5h25 |
A |
T |
16: 58,930,402 (GRCm39) |
N190K |
probably benign |
Het |
| Pde11a |
G |
A |
2: 75,853,072 (GRCm39) |
L849F |
probably damaging |
Het |
| Prpf38b |
T |
C |
3: 108,811,350 (GRCm39) |
K505R |
unknown |
Het |
| Rbbp4 |
A |
G |
4: 129,211,693 (GRCm39) |
S355P |
probably benign |
Het |
| Rbm20 |
C |
A |
19: 53,806,402 (GRCm39) |
A494D |
probably benign |
Het |
| Sema6c |
C |
T |
3: 95,080,535 (GRCm39) |
S943L |
probably benign |
Het |
| Slc27a3 |
A |
G |
3: 90,294,449 (GRCm39) |
F441L |
probably damaging |
Het |
| Taar2 |
T |
C |
10: 23,817,386 (GRCm39) |
W309R |
probably damaging |
Het |
| Topors |
A |
G |
4: 40,261,988 (GRCm39) |
V432A |
probably benign |
Het |
| Vmn1r121 |
T |
G |
7: 20,831,829 (GRCm39) |
S204R |
probably damaging |
Het |
| Wdr20 |
T |
A |
12: 110,759,753 (GRCm39) |
L213H |
probably damaging |
Het |
| Zfp512b |
A |
G |
2: 181,226,617 (GRCm39) |
*880R |
probably null |
Het |
| Zfp652 |
T |
C |
11: 95,640,483 (GRCm39) |
V136A |
possibly 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 |
|
R3083:Gm15446
|
UTSW |
5 |
110,091,158 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
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 |
|
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'- TCAGTTTCCTTCTAAGATGACTTGG -3'
(R):5'- GTACCAGGACACATGAACATTTCTT -3'
Sequencing Primer
(F):5'- CTTCTTAGTCATGAAATAAGTGTGGG -3'
(R):5'- GGACACATGAACATTTCTTCAGAGGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation