Incidental Mutation 'R4256:Gsdma2'
| ID |
321825 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsdma2
|
| Ensembl Gene |
ENSMUSG00000017211 |
| Gene Name |
gasdermin A2 |
| Synonyms |
2200001G21Rik, Gsdml2, 2210006M16Rik, Gsdm2, 2210009F20Rik, 2210411P14Rik |
| MMRRC Submission |
041069-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R4256 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
98537585-98548790 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 98542758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091470
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017355]
[ENSMUST00000093938]
|
| AlphaFold |
Q32M21 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000017355
|
| SMART Domains |
Protein: ENSMUSP00000017355
Gene: ENSMUSG00000017211
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
6 |
251 |
2.9e-73 |
PFAM |
|
low complexity region
|
259 |
273 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000093938
|
| SMART Domains |
Protein: ENSMUSP00000091470
Gene: ENSMUSG00000017211
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
3 |
418 |
9.5e-144 |
PFAM |
|
low complexity region
|
426 |
440 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127692
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129186
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131549
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138686
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
93% (41/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
| Arsi |
T |
C |
18: 61,050,388 (GRCm39) |
W424R |
probably damaging |
Het |
| Atad2 |
A |
G |
15: 57,980,252 (GRCm39) |
S411P |
probably damaging |
Het |
| Cdhr2 |
G |
A |
13: 54,861,818 (GRCm39) |
V72I |
probably damaging |
Het |
| Celf4 |
T |
C |
18: 25,624,258 (GRCm39) |
I414V |
probably damaging |
Het |
| Cfap43 |
G |
A |
19: 47,770,844 (GRCm39) |
T689I |
probably benign |
Het |
| Cpne9 |
C |
T |
6: 113,259,984 (GRCm39) |
|
probably benign |
Het |
| Cyp3a11 |
A |
T |
5: 145,806,005 (GRCm39) |
S121T |
probably benign |
Het |
| Dip2c |
C |
A |
13: 9,659,092 (GRCm39) |
Q864K |
probably damaging |
Het |
| Fbxo3 |
A |
G |
2: 103,881,510 (GRCm39) |
T281A |
probably damaging |
Het |
| Gm5148 |
T |
A |
3: 37,768,758 (GRCm39) |
H154L |
unknown |
Het |
| Hfm1 |
T |
C |
5: 107,052,663 (GRCm39) |
I273M |
possibly damaging |
Het |
| Hspa4l |
A |
G |
3: 40,700,435 (GRCm39) |
E14G |
probably benign |
Het |
| Inava |
G |
T |
1: 136,142,088 (GRCm39) |
N670K |
probably benign |
Het |
| Lgals12 |
T |
G |
19: 7,584,081 (GRCm39) |
E5D |
possibly damaging |
Het |
| Lsg1 |
T |
G |
16: 30,392,061 (GRCm39) |
I237L |
probably benign |
Het |
| Mettl14 |
T |
C |
3: 123,177,254 (GRCm39) |
E49G |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,370,107 (GRCm39) |
I2675V |
probably benign |
Het |
| Or2y1e |
A |
T |
11: 49,218,304 (GRCm39) |
Q22L |
probably benign |
Het |
| Or4b1b |
A |
T |
2: 90,112,406 (GRCm39) |
V171E |
probably damaging |
Het |
| Or5k15 |
T |
G |
16: 58,710,143 (GRCm39) |
S147R |
probably benign |
Het |
| Padi1 |
A |
T |
4: 140,542,089 (GRCm39) |
L611Q |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,277,764 (GRCm39) |
D248G |
probably damaging |
Het |
| Plekhm1 |
C |
A |
11: 103,261,760 (GRCm39) |
R940L |
probably damaging |
Het |
| Rasa3 |
A |
G |
8: 13,664,532 (GRCm39) |
|
probably null |
Het |
| Rspo2 |
C |
A |
15: 42,939,307 (GRCm39) |
R161L |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,443,786 (GRCm39) |
Y1944C |
probably damaging |
Het |
| Slc7a10 |
G |
T |
7: 34,898,140 (GRCm39) |
M297I |
probably damaging |
Het |
| Spata31e3 |
A |
C |
13: 50,404,141 (GRCm39) |
S54A |
probably benign |
Het |
| Ssh2 |
A |
G |
11: 77,299,009 (GRCm39) |
T112A |
possibly damaging |
Het |
| Ttc7 |
A |
T |
17: 87,628,829 (GRCm39) |
|
probably null |
Het |
| Vmn1r64 |
T |
A |
7: 5,886,895 (GRCm39) |
H216L |
probably benign |
Het |
| Vmn2r112 |
A |
G |
17: 22,837,393 (GRCm39) |
K618R |
probably damaging |
Het |
| Vmp1 |
T |
A |
11: 86,552,014 (GRCm39) |
I117L |
probably benign |
Het |
| Vsnl1 |
A |
T |
12: 11,382,056 (GRCm39) |
Y108* |
probably null |
Het |
| Wdr31 |
A |
G |
4: 62,375,675 (GRCm39) |
|
probably null |
Het |
| Zfp329 |
A |
G |
7: 12,541,840 (GRCm39) |
V284A |
probably benign |
Het |
| Zfp551 |
G |
A |
7: 12,150,318 (GRCm39) |
H364Y |
possibly damaging |
Het |
|
| Other mutations in Gsdma2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02002:Gsdma2
|
APN |
11 |
98,541,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03091:Gsdma2
|
APN |
11 |
98,542,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03252:Gsdma2
|
APN |
11 |
98,539,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03279:Gsdma2
|
APN |
11 |
98,548,549 (GRCm39) |
missense |
unknown |
|
|
R0116:Gsdma2
|
UTSW |
11 |
98,540,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0443:Gsdma2
|
UTSW |
11 |
98,548,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0521:Gsdma2
|
UTSW |
11 |
98,545,727 (GRCm39) |
nonsense |
probably null |
|
|
R0626:Gsdma2
|
UTSW |
11 |
98,542,810 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1163:Gsdma2
|
UTSW |
11 |
98,541,684 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1340:Gsdma2
|
UTSW |
11 |
98,548,475 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1834:Gsdma2
|
UTSW |
11 |
98,539,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1972:Gsdma2
|
UTSW |
11 |
98,541,744 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2344:Gsdma2
|
UTSW |
11 |
98,546,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2964:Gsdma2
|
UTSW |
11 |
98,548,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4093:Gsdma2
|
UTSW |
11 |
98,541,677 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4711:Gsdma2
|
UTSW |
11 |
98,540,439 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5175:Gsdma2
|
UTSW |
11 |
98,543,438 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6734:Gsdma2
|
UTSW |
11 |
98,540,416 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6909:Gsdma2
|
UTSW |
11 |
98,543,383 (GRCm39) |
nonsense |
probably null |
|
|
R7621:Gsdma2
|
UTSW |
11 |
98,540,375 (GRCm39) |
missense |
probably benign |
|
|
R7749:Gsdma2
|
UTSW |
11 |
98,548,547 (GRCm39) |
missense |
unknown |
|
|
R8135:Gsdma2
|
UTSW |
11 |
98,542,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8775:Gsdma2
|
UTSW |
11 |
98,540,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8775-TAIL:Gsdma2
|
UTSW |
11 |
98,540,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9599:Gsdma2
|
UTSW |
11 |
98,540,459 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTGGGTGATCACTAGACATG -3'
(R):5'- TCTTGAGGTCAGCACATGC -3'
Sequencing Primer
(F):5'- TGACGACCATTCTTCCAGAGG -3'
(R):5'- GCACATGCTGGTTTCTGC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation