Incidental Mutation 'R6533:Gsdmc4'
ID |
520225 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gsdmc4
|
Ensembl Gene |
ENSMUSG00000055748 |
Gene Name |
gasdermin C4 |
Synonyms |
9030605I04Rik |
MMRRC Submission |
044659-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R6533 (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 63763909 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 396
(N396I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140269
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063530]
[ENSMUST00000188108]
|
AlphaFold |
Q3TR54 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063530
AA Change: N396I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000066072 Gene: ENSMUSG00000055748 AA Change: N396I
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 damaging
Transcript: ENSMUST00000188108
AA Change: N396I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140269 Gene: ENSMUSG00000055748 AA Change: N396I
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
4 |
443 |
3.8e-153 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010B08Rik |
C |
T |
2: 173,561,628 (GRCm39) |
|
probably benign |
Het |
4932414N04Rik |
G |
T |
2: 68,546,662 (GRCm39) |
E115* |
probably null |
Het |
Abhd16a |
G |
A |
17: 35,317,785 (GRCm39) |
|
probably null |
Het |
Ankrd28 |
T |
A |
14: 31,454,041 (GRCm39) |
I244L |
possibly damaging |
Het |
Barx2 |
T |
C |
9: 31,824,275 (GRCm39) |
Y38C |
probably damaging |
Het |
Btn2a2 |
C |
A |
13: 23,665,951 (GRCm39) |
E294* |
probably null |
Het |
Ceacam2 |
C |
G |
7: 25,230,136 (GRCm39) |
V157L |
probably benign |
Het |
Ces2c |
T |
A |
8: 105,578,725 (GRCm39) |
F334L |
possibly damaging |
Het |
Col7a1 |
T |
C |
9: 108,790,426 (GRCm39) |
I958T |
unknown |
Het |
Dcp2 |
T |
A |
18: 44,532,731 (GRCm39) |
D82E |
probably benign |
Het |
Dnah8 |
T |
C |
17: 30,965,964 (GRCm39) |
L2432S |
probably damaging |
Het |
Dst |
A |
G |
1: 34,342,590 (GRCm39) |
D7582G |
probably benign |
Het |
Fat3 |
T |
A |
9: 15,910,195 (GRCm39) |
I1936L |
probably benign |
Het |
Lonrf2 |
A |
C |
1: 38,852,349 (GRCm39) |
D167E |
probably benign |
Het |
Marf1 |
T |
C |
16: 13,933,663 (GRCm39) |
D1575G |
probably benign |
Het |
Med23 |
T |
C |
10: 24,769,518 (GRCm39) |
L101P |
probably damaging |
Het |
Myh3 |
A |
G |
11: 66,981,245 (GRCm39) |
I703V |
probably damaging |
Het |
Ncan |
G |
A |
8: 70,549,007 (GRCm39) |
A1257V |
probably benign |
Het |
Nipal4 |
A |
T |
11: 46,041,234 (GRCm39) |
Y320* |
probably null |
Het |
Obox5 |
A |
T |
7: 15,491,532 (GRCm39) |
Q24L |
probably benign |
Het |
Orc1 |
T |
C |
4: 108,454,644 (GRCm39) |
S345P |
probably benign |
Het |
P4hb |
A |
T |
11: 120,462,469 (GRCm39) |
I79N |
probably damaging |
Het |
Phf3 |
A |
T |
1: 30,845,399 (GRCm39) |
I1262N |
probably damaging |
Het |
Pigo |
A |
T |
4: 43,022,697 (GRCm39) |
N291K |
probably benign |
Het |
Ppargc1b |
C |
T |
18: 61,440,845 (GRCm39) |
R691H |
possibly damaging |
Het |
Ppm1m |
T |
C |
9: 106,074,069 (GRCm39) |
|
probably benign |
Het |
Ptprd |
A |
T |
4: 76,046,765 (GRCm39) |
D500E |
probably damaging |
Het |
Rab3gap2 |
T |
A |
1: 184,965,151 (GRCm39) |
|
probably null |
Het |
Rnf214 |
A |
G |
9: 45,811,361 (GRCm39) |
S101P |
probably benign |
Het |
Sdhc |
A |
G |
1: 170,957,396 (GRCm39) |
S162P |
possibly damaging |
Het |
Spta1 |
C |
T |
1: 174,071,713 (GRCm39) |
T2231I |
probably damaging |
Het |
Stxbp2 |
T |
A |
8: 3,692,683 (GRCm39) |
D578E |
probably benign |
Het |
Tacc2 |
A |
T |
7: 130,224,567 (GRCm39) |
E417D |
possibly damaging |
Het |
Tas2r144 |
A |
T |
6: 42,192,280 (GRCm39) |
N7Y |
probably benign |
Het |
Tasp1 |
A |
G |
2: 139,676,277 (GRCm39) |
*421R |
probably null |
Het |
Tigd5 |
A |
G |
15: 75,782,039 (GRCm39) |
I134V |
possibly damaging |
Het |
Tmem95 |
A |
T |
11: 69,768,843 (GRCm39) |
M1K |
probably null |
Het |
Trappc10 |
T |
C |
10: 78,024,728 (GRCm39) |
M1134V |
probably damaging |
Het |
Unc45a |
T |
G |
7: 79,983,817 (GRCm39) |
K326N |
probably damaging |
Het |
Vmn1r59 |
A |
G |
7: 5,457,463 (GRCm39) |
V99A |
probably benign |
Het |
Vmn2r4 |
T |
C |
3: 64,322,519 (GRCm39) |
T67A |
probably benign |
Het |
Vmn2r85 |
A |
T |
10: 130,262,529 (GRCm39) |
M70K |
probably benign |
Het |
Zftraf1 |
C |
A |
15: 76,531,930 (GRCm39) |
E283* |
probably null |
Het |
Zkscan8 |
A |
G |
13: 21,704,748 (GRCm39) |
F325S |
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 |
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 |
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'- TGACAGGCTTCCATAGAGAGC -3'
(R):5'- CACACCGGCAGATGATACTC -3'
Sequencing Primer
(F):5'- GCAGACAGGGGCATCTTG -3'
(R):5'- ACACCGGCAGATGATACTCTTGTG -3'
|
Posted On |
2018-06-06 |