Incidental Mutation 'R6698:Gsdmc4'
| ID |
528664 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsdmc4
|
| Ensembl Gene |
ENSMUSG00000055748 |
| Gene Name |
gasdermin C4 |
| Synonyms |
9030605I04Rik |
| MMRRC Submission |
044816-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R6698 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
63763113-63784146 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 63765613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 312
(D312V)
|
| 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: D312V
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000066072
Gene: ENSMUSG00000055748
AA Change: D312V
| 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: D312V
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000140269
Gene: ENSMUSG00000055748
AA Change: D312V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
3.8e-153 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
95% (40/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brca2 |
T |
C |
5: 150,455,859 (GRCm39) |
V200A |
probably damaging |
Het |
| Camk2g |
T |
A |
14: 20,792,776 (GRCm39) |
K393* |
probably null |
Het |
| Catsperb |
T |
A |
12: 101,475,466 (GRCm39) |
F337I |
probably damaging |
Het |
| Cdk17 |
T |
C |
10: 93,064,540 (GRCm39) |
Y270H |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,811,374 (GRCm39) |
N715I |
unknown |
Het |
| Fancg |
A |
G |
4: 43,007,034 (GRCm39) |
S248P |
probably benign |
Het |
| Flvcr1 |
T |
C |
1: 190,757,929 (GRCm39) |
Y79C |
probably damaging |
Het |
| Gabrp |
A |
G |
11: 33,507,017 (GRCm39) |
S198P |
probably damaging |
Het |
| Gask1b |
A |
G |
3: 79,843,902 (GRCm39) |
I10V |
probably damaging |
Het |
| Glp1r |
A |
G |
17: 31,155,375 (GRCm39) |
Y454C |
probably damaging |
Het |
| Gpr158 |
A |
C |
2: 21,831,921 (GRCm39) |
D1007A |
probably damaging |
Het |
| Gsdmc3 |
A |
G |
15: 63,732,120 (GRCm39) |
F302S |
possibly damaging |
Het |
| Itga5 |
T |
C |
15: 103,259,808 (GRCm39) |
Y663C |
probably benign |
Het |
| Kif1b |
A |
T |
4: 149,359,413 (GRCm39) |
M108K |
probably damaging |
Het |
| Klf11 |
T |
G |
12: 24,703,618 (GRCm39) |
S18A |
probably damaging |
Het |
| Lmtk2 |
T |
C |
5: 144,111,737 (GRCm39) |
V819A |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,211,732 (GRCm39) |
M451V |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,192,958 (GRCm39) |
D488G |
probably damaging |
Het |
| Mark4 |
T |
C |
7: 19,163,362 (GRCm39) |
N589S |
probably benign |
Het |
| Mis12 |
T |
C |
11: 70,916,012 (GRCm39) |
F15S |
probably damaging |
Het |
| Nif3l1 |
A |
G |
1: 58,489,648 (GRCm39) |
D179G |
probably benign |
Het |
| Nlrx1 |
A |
G |
9: 44,177,104 (GRCm39) |
W3R |
probably damaging |
Het |
| Nup210l |
G |
A |
3: 90,089,815 (GRCm39) |
S1194N |
possibly damaging |
Het |
| Or13m2-ps1 |
A |
T |
6: 42,778,136 (GRCm39) |
T154S |
probably benign |
Het |
| Or5d20-ps1 |
A |
G |
2: 87,931,561 (GRCm39) |
F257L |
unknown |
Het |
| Pnkd |
T |
A |
1: 74,389,836 (GRCm39) |
L320Q |
probably damaging |
Het |
| Prkn |
A |
G |
17: 11,286,183 (GRCm39) |
|
probably null |
Het |
| Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Homo |
| Rilpl2 |
C |
T |
5: 124,607,843 (GRCm39) |
E126K |
probably damaging |
Het |
| Rpn2 |
T |
C |
2: 157,139,330 (GRCm39) |
I208T |
possibly damaging |
Het |
| Skint4 |
G |
T |
4: 111,977,096 (GRCm39) |
C170F |
probably damaging |
Het |
| Synj1 |
C |
G |
16: 90,757,340 (GRCm39) |
V877L |
probably damaging |
Het |
| Tcp11 |
A |
T |
17: 28,290,804 (GRCm39) |
I106N |
possibly damaging |
Het |
| Tg |
A |
G |
15: 66,711,211 (GRCm39) |
Y991C |
probably damaging |
Het |
| Trib3 |
A |
G |
2: 152,180,339 (GRCm39) |
S285P |
probably damaging |
Het |
| Wdr49 |
A |
T |
3: 75,336,673 (GRCm39) |
W345R |
probably benign |
Het |
| Wnt5a |
A |
G |
14: 28,240,420 (GRCm39) |
Y190C |
possibly damaging |
Het |
| Xpo1 |
A |
G |
11: 23,244,040 (GRCm39) |
E955G |
probably benign |
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 |
|
R2350:Gsdmc4
|
UTSW |
15 |
63,765,014 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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'- GAACTAGTAGGCCACACTCTC -3'
(R):5'- GGAAATGGTACCATCCCAGG -3'
Sequencing Primer
(F):5'- TAGCCCTCCACATGGTGCATG -3'
(R):5'- GGTACCATCCCAGGGATATTTAATTG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation