Incidental Mutation 'R2350:Gsdmc4'
| ID |
246080 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsdmc4
|
| Ensembl Gene |
ENSMUSG00000055748 |
| Gene Name |
gasdermin C4 |
| Synonyms |
9030605I04Rik |
| MMRRC Submission |
040332-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R2350 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
63763113-63784146 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 63765014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 348
(H348L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063530]
[ENSMUST00000188108]
|
| AlphaFold |
Q3TR54 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063530
AA Change: H348L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000066072
Gene: ENSMUSG00000055748
AA Change: H348L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.2e-162 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177709
|
| SMART Domains |
Protein: ENSMUSP00000137240
Gene: ENSMUSG00000093867
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
161 |
2.1e-57 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185431
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186026
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188108
AA Change: H348L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140269
Gene: ENSMUSG00000055748
AA Change: H348L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
3.8e-153 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
C |
6: 121,655,047 (GRCm39) |
|
probably benign |
Het |
| Adam12 |
T |
C |
7: 133,521,253 (GRCm39) |
T312A |
probably damaging |
Het |
| Adamts20 |
C |
T |
15: 94,181,797 (GRCm39) |
C1632Y |
probably damaging |
Het |
| Ago2 |
T |
C |
15: 72,991,310 (GRCm39) |
M543V |
probably benign |
Het |
| Alpk3 |
T |
C |
7: 80,744,718 (GRCm39) |
L1271P |
probably damaging |
Het |
| Arpin |
T |
A |
7: 79,581,553 (GRCm39) |
K56* |
probably null |
Het |
| Ccdc138 |
G |
T |
10: 58,397,715 (GRCm39) |
|
probably benign |
Het |
| Ccdc63 |
A |
T |
5: 122,260,948 (GRCm39) |
M192K |
probably benign |
Het |
| Cldn12 |
A |
T |
5: 5,557,845 (GRCm39) |
V194D |
possibly damaging |
Het |
| Cntnap5b |
T |
C |
1: 100,306,851 (GRCm39) |
L485P |
probably damaging |
Het |
| Cpne7 |
A |
G |
8: 123,851,208 (GRCm39) |
D165G |
probably damaging |
Het |
| Cyp2j6 |
A |
T |
4: 96,417,645 (GRCm39) |
M326K |
probably damaging |
Het |
| D630003M21Rik |
T |
A |
2: 158,042,931 (GRCm39) |
T870S |
probably damaging |
Het |
| Dennd2c |
A |
G |
3: 103,039,317 (GRCm39) |
D155G |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,645,011 (GRCm39) |
|
probably null |
Het |
| Dqx1 |
T |
A |
6: 83,036,068 (GRCm39) |
C133* |
probably null |
Het |
| Fam234b |
T |
A |
6: 135,208,722 (GRCm39) |
V545E |
probably damaging |
Het |
| Flcn |
T |
C |
11: 59,683,485 (GRCm39) |
H564R |
probably damaging |
Het |
| Gucy2c |
G |
T |
6: 136,740,072 (GRCm39) |
P252T |
probably damaging |
Het |
| Insl6 |
T |
A |
19: 29,302,645 (GRCm39) |
E24V |
possibly damaging |
Het |
| Irx1 |
T |
A |
13: 72,108,167 (GRCm39) |
T172S |
probably damaging |
Het |
| Mocos |
C |
T |
18: 24,799,713 (GRCm39) |
|
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,158,835 (GRCm39) |
V837A |
probably benign |
Het |
| Nfatc2ip |
T |
C |
7: 125,995,170 (GRCm39) |
N126S |
probably benign |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Npepl1 |
T |
C |
2: 173,953,566 (GRCm39) |
S166P |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or7d11 |
G |
T |
9: 19,966,384 (GRCm39) |
A125D |
probably damaging |
Het |
| Otop2 |
T |
G |
11: 115,217,676 (GRCm39) |
C171G |
probably damaging |
Het |
| Parpbp |
C |
A |
10: 87,968,950 (GRCm39) |
|
probably benign |
Het |
| Pcdhb20 |
T |
A |
18: 37,637,563 (GRCm39) |
S30T |
probably benign |
Het |
| Phkg1 |
A |
T |
5: 129,893,373 (GRCm39) |
V359E |
probably damaging |
Het |
| Ppp2cb |
A |
G |
8: 34,101,855 (GRCm39) |
D131G |
probably null |
Het |
| Scn9a |
A |
G |
2: 66,335,312 (GRCm39) |
Y1226H |
probably damaging |
Het |
| Unc5b |
A |
G |
10: 60,613,979 (GRCm39) |
F290S |
probably benign |
Het |
| Vmn1r71 |
A |
G |
7: 10,481,846 (GRCm39) |
F215L |
probably benign |
Het |
| Vmn2r101 |
T |
C |
17: 19,810,045 (GRCm39) |
V277A |
probably benign |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,773 (GRCm39) |
S354G |
probably benign |
Het |
| Zfp292 |
A |
T |
4: 34,811,281 (GRCm39) |
S588T |
probably damaging |
Het |
|
| Other mutations in Gsdmc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00730:Gsdmc4
|
APN |
15 |
63,769,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02301:Gsdmc4
|
APN |
15 |
63,767,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02586:Gsdmc4
|
APN |
15 |
63,765,641 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02747:Gsdmc4
|
APN |
15 |
63,765,720 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02829:Gsdmc4
|
APN |
15 |
63,764,497 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03233:Gsdmc4
|
APN |
15 |
63,774,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0835:Gsdmc4
|
UTSW |
15 |
63,765,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0981:Gsdmc4
|
UTSW |
15 |
63,763,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1946:Gsdmc4
|
UTSW |
15 |
63,774,629 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2967:Gsdmc4
|
UTSW |
15 |
63,773,909 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3409:Gsdmc4
|
UTSW |
15 |
63,763,895 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3410:Gsdmc4
|
UTSW |
15 |
63,763,895 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4067:Gsdmc4
|
UTSW |
15 |
63,765,736 (GRCm39) |
splice site |
probably null |
|
|
R4840:Gsdmc4
|
UTSW |
15 |
63,765,596 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5182:Gsdmc4
|
UTSW |
15 |
63,765,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5624:Gsdmc4
|
UTSW |
15 |
63,764,503 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5910:Gsdmc4
|
UTSW |
15 |
63,767,101 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6533:Gsdmc4
|
UTSW |
15 |
63,763,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6698:Gsdmc4
|
UTSW |
15 |
63,765,613 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7291:Gsdmc4
|
UTSW |
15 |
63,774,689 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7598:Gsdmc4
|
UTSW |
15 |
63,772,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7691:Gsdmc4
|
UTSW |
15 |
63,765,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7851:Gsdmc4
|
UTSW |
15 |
63,774,595 (GRCm39) |
nonsense |
probably null |
|
|
R7881:Gsdmc4
|
UTSW |
15 |
63,769,568 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8300:Gsdmc4
|
UTSW |
15 |
63,766,790 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8512:Gsdmc4
|
UTSW |
15 |
63,763,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9041:Gsdmc4
|
UTSW |
15 |
63,774,586 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9357:Gsdmc4
|
UTSW |
15 |
63,772,196 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9680:Gsdmc4
|
UTSW |
15 |
63,774,706 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCAGAGCCTTGCTGGTATTAGG -3'
(R):5'- ACTAGTTCTGCTCCCCATGG -3'
Sequencing Primer
(F):5'- AGGATGATGTGCGAATGGTC -3'
(R):5'- GCTACTTCGTGAGTTCAAAGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation