Incidental Mutation 'R7636:Gsdmc2'
| ID |
589980 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsdmc2
|
| Ensembl Gene |
ENSMUSG00000056293 |
| Gene Name |
gasdermin C2 |
| Synonyms |
|
| MMRRC Submission |
045722-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R7636 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
63696195-63717026 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 63700041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 244
(T244S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141066
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089900]
[ENSMUST00000188404]
[ENSMUST00000188691]
|
| AlphaFold |
Q2KHK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089900
AA Change: T244S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000087344
Gene: ENSMUSG00000056293
AA Change: T244S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.8e-157 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188404
AA Change: T244S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000141066
Gene: ENSMUSG00000056293
AA Change: T244S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.7e-148 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188691
AA Change: T244S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000140487
Gene: ENSMUSG00000056293
AA Change: T244S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.7e-148 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610318N02Rik |
C |
T |
16: 16,935,701 (GRCm39) |
E199K |
possibly damaging |
Het |
| Akap13 |
C |
A |
7: 75,259,621 (GRCm39) |
N748K |
probably benign |
Het |
| Aldh16a1 |
G |
T |
7: 44,796,955 (GRCm39) |
P58T |
unknown |
Het |
| Amhr2 |
T |
A |
15: 102,360,893 (GRCm39) |
C343S |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,380,239 (GRCm39) |
M2483K |
possibly damaging |
Het |
| Ano3 |
A |
T |
2: 110,513,048 (GRCm39) |
L649* |
probably null |
Het |
| Apob |
T |
C |
12: 8,059,516 (GRCm39) |
I2666T |
possibly damaging |
Het |
| C1ql3 |
A |
T |
2: 13,015,621 (GRCm39) |
V13E |
probably benign |
Het |
| Casp12 |
A |
G |
9: 5,358,344 (GRCm39) |
I384V |
probably benign |
Het |
| Cimip2a |
A |
T |
2: 25,108,832 (GRCm39) |
H7L |
probably damaging |
Het |
| Clcn1 |
A |
T |
6: 42,268,268 (GRCm39) |
K147* |
probably null |
Het |
| Ctnna1 |
T |
A |
18: 35,356,526 (GRCm39) |
N398K |
possibly damaging |
Het |
| Dcdc2a |
A |
T |
13: 25,286,605 (GRCm39) |
K176M |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 33,075,327 (GRCm39) |
S502T |
probably benign |
Het |
| Fam83e |
G |
A |
7: 45,376,450 (GRCm39) |
D388N |
probably damaging |
Het |
| Fbxl15 |
G |
A |
19: 46,317,614 (GRCm39) |
E99K |
probably benign |
Het |
| Fbxw2 |
T |
C |
2: 34,702,956 (GRCm39) |
T186A |
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,560,668 (GRCm39) |
M1280L |
probably benign |
Het |
| Gbgt1 |
T |
A |
2: 28,395,326 (GRCm39) |
D321E |
probably damaging |
Het |
| Heatr5a |
C |
A |
12: 51,934,979 (GRCm39) |
G1675W |
probably damaging |
Het |
| Heatr5a |
G |
A |
12: 51,999,341 (GRCm39) |
L287F |
probably damaging |
Het |
| Hfm1 |
C |
A |
5: 107,065,332 (GRCm39) |
A116S |
probably benign |
Het |
| Insr |
A |
G |
8: 3,308,709 (GRCm39) |
I109T |
probably damaging |
Het |
| Itga4 |
A |
G |
2: 79,144,176 (GRCm39) |
I688V |
probably benign |
Het |
| Lipe |
A |
G |
7: 25,088,042 (GRCm39) |
M49T |
probably benign |
Het |
| Lrriq3 |
A |
G |
3: 154,893,787 (GRCm39) |
Y496C |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,791,332 (GRCm39) |
|
probably null |
Het |
| Megf10 |
T |
A |
18: 57,410,061 (GRCm39) |
I614N |
possibly damaging |
Het |
| Mkx |
A |
G |
18: 7,000,630 (GRCm39) |
I104T |
possibly damaging |
Het |
| Mrgpra4 |
C |
A |
7: 47,630,721 (GRCm39) |
L293F |
possibly damaging |
Het |
| Olfm2 |
A |
G |
9: 20,579,593 (GRCm39) |
V386A |
possibly damaging |
Het |
| Or2w3b |
A |
T |
11: 58,623,273 (GRCm39) |
N239K |
possibly damaging |
Het |
| Or4a15 |
A |
T |
2: 89,193,583 (GRCm39) |
Y63* |
probably null |
Het |
| Or52s6 |
C |
A |
7: 103,092,040 (GRCm39) |
D97Y |
probably damaging |
Het |
| Pkd2l1 |
G |
T |
19: 44,179,870 (GRCm39) |
D113E |
possibly damaging |
Het |
| Rab11fip2 |
A |
T |
19: 59,931,317 (GRCm39) |
I39K |
possibly damaging |
Het |
| Rab1b |
A |
T |
19: 5,150,810 (GRCm39) |
V99E |
probably damaging |
Het |
| Rad54l2 |
A |
T |
9: 106,597,586 (GRCm39) |
L140Q |
probably damaging |
Het |
| Repin1 |
T |
C |
6: 48,573,299 (GRCm39) |
F76S |
probably benign |
Het |
| Robo1 |
A |
G |
16: 72,360,615 (GRCm39) |
D9G |
|
Het |
| Scn3a |
A |
G |
2: 65,328,033 (GRCm39) |
L819P |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,574,172 (GRCm39) |
N150K |
possibly damaging |
Het |
| Sh2d3c |
T |
C |
2: 32,615,023 (GRCm39) |
S38P |
probably benign |
Het |
| Sin3b |
A |
T |
8: 73,474,362 (GRCm39) |
K549* |
probably null |
Het |
| Sorl1 |
A |
G |
9: 42,003,630 (GRCm39) |
F222S |
possibly damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,130,973 (GRCm39) |
D679V |
probably benign |
Het |
| Tmem147 |
A |
T |
7: 30,427,726 (GRCm39) |
|
probably null |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tmem179 |
C |
T |
12: 112,477,177 (GRCm39) |
|
probably null |
Het |
| Tubg2 |
A |
T |
11: 101,050,913 (GRCm39) |
I213F |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,673,441 (GRCm39) |
I1497T |
probably benign |
Het |
| Zfp128 |
A |
T |
7: 12,624,039 (GRCm39) |
M136L |
probably benign |
Het |
| Zzz3 |
G |
A |
3: 152,133,289 (GRCm39) |
A116T |
probably benign |
Het |
|
| Other mutations in Gsdmc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00556:Gsdmc2
|
APN |
15 |
63,700,120 (GRCm39) |
splice site |
probably benign |
|
|
IGL02212:Gsdmc2
|
APN |
15 |
63,699,911 (GRCm39) |
splice site |
probably benign |
|
|
IGL02394:Gsdmc2
|
APN |
15 |
63,707,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02683:Gsdmc2
|
APN |
15 |
63,705,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Gsdmc2
|
UTSW |
15 |
63,699,604 (GRCm39) |
splice site |
probably benign |
|
|
R0105:Gsdmc2
|
UTSW |
15 |
63,700,026 (GRCm39) |
missense |
probably benign |
|
|
R0105:Gsdmc2
|
UTSW |
15 |
63,700,026 (GRCm39) |
missense |
probably benign |
|
|
R0655:Gsdmc2
|
UTSW |
15 |
63,699,622 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1066:Gsdmc2
|
UTSW |
15 |
63,696,899 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1283:Gsdmc2
|
UTSW |
15 |
63,696,906 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1691:Gsdmc2
|
UTSW |
15 |
63,705,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1727:Gsdmc2
|
UTSW |
15 |
63,721,628 (GRCm39) |
unclassified |
probably benign |
|
|
R1911:Gsdmc2
|
UTSW |
15 |
63,699,621 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1990:Gsdmc2
|
UTSW |
15 |
63,700,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1991:Gsdmc2
|
UTSW |
15 |
63,700,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2018:Gsdmc2
|
UTSW |
15 |
63,699,975 (GRCm39) |
splice site |
probably null |
|
|
R2090:Gsdmc2
|
UTSW |
15 |
63,698,675 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3037:Gsdmc2
|
UTSW |
15 |
63,705,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3964:Gsdmc2
|
UTSW |
15 |
63,721,683 (GRCm39) |
unclassified |
probably benign |
|
|
R4308:Gsdmc2
|
UTSW |
15 |
63,720,554 (GRCm39) |
unclassified |
probably benign |
|
|
R4574:Gsdmc2
|
UTSW |
15 |
63,699,872 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4738:Gsdmc2
|
UTSW |
15 |
63,698,650 (GRCm39) |
nonsense |
probably null |
|
|
R4873:Gsdmc2
|
UTSW |
15 |
63,700,101 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4875:Gsdmc2
|
UTSW |
15 |
63,700,101 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4883:Gsdmc2
|
UTSW |
15 |
63,707,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5115:Gsdmc2
|
UTSW |
15 |
63,699,617 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5241:Gsdmc2
|
UTSW |
15 |
63,696,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5510:Gsdmc2
|
UTSW |
15 |
63,700,045 (GRCm39) |
missense |
probably benign |
|
|
R5841:Gsdmc2
|
UTSW |
15 |
63,698,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5987:Gsdmc2
|
UTSW |
15 |
63,702,715 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6199:Gsdmc2
|
UTSW |
15 |
63,696,962 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6359:Gsdmc2
|
UTSW |
15 |
63,696,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6610:Gsdmc2
|
UTSW |
15 |
63,696,857 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6984:Gsdmc2
|
UTSW |
15 |
63,696,898 (GRCm39) |
nonsense |
probably null |
|
|
R7092:Gsdmc2
|
UTSW |
15 |
63,696,947 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7204:Gsdmc2
|
UTSW |
15 |
63,696,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7247:Gsdmc2
|
UTSW |
15 |
63,705,183 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7409:Gsdmc2
|
UTSW |
15 |
63,705,195 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7589:Gsdmc2
|
UTSW |
15 |
63,696,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7658:Gsdmc2
|
UTSW |
15 |
63,696,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7673:Gsdmc2
|
UTSW |
15 |
63,696,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8017:Gsdmc2
|
UTSW |
15 |
63,698,762 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8019:Gsdmc2
|
UTSW |
15 |
63,698,762 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8368:Gsdmc2
|
UTSW |
15 |
63,696,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8512:Gsdmc2
|
UTSW |
15 |
63,706,864 (GRCm39) |
missense |
probably null |
0.74 |
|
R9266:Gsdmc2
|
UTSW |
15 |
63,698,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9515:Gsdmc2
|
UTSW |
15 |
63,702,678 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9577:Gsdmc2
|
UTSW |
15 |
63,696,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTCACCAATTGGAACGATGTC -3'
(R):5'- CGGGCATCTGTGAAAGGATC -3'
Sequencing Primer
(F):5'- CGATGTCATTTATCCACAAGCCTAG -3'
(R):5'- GTGCTCAGGTTGACATCAGTCC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation