Incidental Mutation 'R6984:Gsdmc2'
| ID |
542864 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsdmc2
|
| Ensembl Gene |
ENSMUSG00000056293 |
| Gene Name |
gasdermin C2 |
| Synonyms |
|
| MMRRC Submission |
045091-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R6984 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
63696195-63717026 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 63696898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 424
(Y424*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089900]
[ENSMUST00000188404]
[ENSMUST00000188691]
|
| AlphaFold |
Q2KHK6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000089900
AA Change: Y424*
|
| SMART Domains |
Protein: ENSMUSP00000087344
Gene: ENSMUSG00000056293
AA Change: Y424*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.8e-157 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000188404
AA Change: Y424*
|
| SMART Domains |
Protein: ENSMUSP00000141066
Gene: ENSMUSG00000056293
AA Change: Y424*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.7e-148 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000188691
AA Change: Y424*
|
| SMART Domains |
Protein: ENSMUSP00000140487
Gene: ENSMUSG00000056293
AA Change: Y424*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.7e-148 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,383,937 (GRCm39) |
V676A |
probably benign |
Het |
| Abcb5 |
A |
G |
12: 118,891,012 (GRCm39) |
M495T |
possibly damaging |
Het |
| Aktip |
A |
T |
8: 91,853,346 (GRCm39) |
F124I |
probably damaging |
Het |
| Alpk2 |
C |
A |
18: 65,438,749 (GRCm39) |
Q1348H |
possibly damaging |
Het |
| Apol11b |
T |
C |
15: 77,519,546 (GRCm39) |
D178G |
probably benign |
Het |
| Asb15 |
A |
T |
6: 24,566,336 (GRCm39) |
I430F |
probably benign |
Het |
| Chd2 |
A |
C |
7: 73,134,159 (GRCm39) |
Y729* |
probably null |
Het |
| Cpb2 |
T |
C |
14: 75,502,898 (GRCm39) |
V159A |
possibly damaging |
Het |
| Csf2rb |
A |
G |
15: 78,229,719 (GRCm39) |
S429G |
probably damaging |
Het |
| Ctsw |
C |
T |
19: 5,516,646 (GRCm39) |
R133H |
probably damaging |
Het |
| Dhx30 |
A |
G |
9: 109,920,485 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
G |
A |
17: 30,958,712 (GRCm39) |
G2185R |
probably damaging |
Het |
| Ell2 |
C |
A |
13: 75,910,006 (GRCm39) |
L119M |
probably damaging |
Het |
| Enthd1 |
A |
T |
15: 80,444,309 (GRCm39) |
I82N |
probably damaging |
Het |
| Epx |
T |
A |
11: 87,759,424 (GRCm39) |
D555V |
probably damaging |
Het |
| Fhdc1 |
T |
G |
3: 84,351,823 (GRCm39) |
D1134A |
possibly damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,702,734 (GRCm39) |
V82D |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,665,238 (GRCm39) |
F960I |
probably damaging |
Het |
| Hsd3b7 |
T |
A |
7: 127,400,717 (GRCm39) |
I57N |
probably damaging |
Het |
| Ighv10-1 |
A |
T |
12: 114,442,702 (GRCm39) |
D94E |
possibly damaging |
Het |
| Ighv3-3 |
A |
G |
12: 114,160,350 (GRCm39) |
V20A |
possibly damaging |
Het |
| Kcnh3 |
G |
T |
15: 99,126,433 (GRCm39) |
C220F |
probably benign |
Het |
| Kctd16 |
G |
A |
18: 40,390,101 (GRCm39) |
|
probably benign |
Het |
| L3mbtl3 |
T |
C |
10: 26,158,753 (GRCm39) |
K632E |
unknown |
Het |
| Lama1 |
G |
A |
17: 68,086,107 (GRCm39) |
V1449M |
|
Het |
| Lgr6 |
A |
G |
1: 134,915,740 (GRCm39) |
I336T |
possibly damaging |
Het |
| Lrp1b |
A |
C |
2: 40,712,640 (GRCm39) |
D3117E |
probably damaging |
Het |
| Lrrc4b |
A |
T |
7: 44,110,722 (GRCm39) |
E198V |
possibly damaging |
Het |
| Map2 |
A |
T |
1: 66,454,395 (GRCm39) |
D1095V |
possibly damaging |
Het |
| Mapk8ip1 |
A |
T |
2: 92,217,072 (GRCm39) |
S417T |
probably damaging |
Het |
| Med24 |
A |
G |
11: 98,609,368 (GRCm39) |
V94A |
possibly damaging |
Het |
| Megf11 |
A |
G |
9: 64,593,734 (GRCm39) |
I637V |
probably benign |
Het |
| Mpp7 |
C |
T |
18: 7,441,623 (GRCm39) |
G182D |
probably damaging |
Het |
| Myh15 |
G |
A |
16: 48,930,775 (GRCm39) |
G583D |
probably damaging |
Het |
| Naa15 |
A |
G |
3: 51,380,021 (GRCm39) |
T750A |
probably benign |
Het |
| Or10d5b |
C |
T |
9: 39,886,030 (GRCm39) |
V30I |
unknown |
Het |
| Or10v5 |
T |
A |
19: 11,805,668 (GRCm39) |
T241S |
probably damaging |
Het |
| Or1e30 |
G |
A |
11: 73,678,603 (GRCm39) |
V280M |
possibly damaging |
Het |
| Pgm1 |
A |
T |
4: 99,786,851 (GRCm39) |
Q30L |
probably benign |
Het |
| Pi4kb |
C |
T |
3: 94,904,245 (GRCm39) |
R238C |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,059,527 (GRCm39) |
E3497G |
probably damaging |
Het |
| Plpp4 |
C |
T |
7: 128,992,616 (GRCm39) |
A218V |
possibly damaging |
Het |
| Plxnc1 |
G |
A |
10: 94,667,392 (GRCm39) |
A1094V |
probably damaging |
Het |
| Pom121l2 |
A |
T |
13: 22,166,191 (GRCm39) |
D154V |
probably benign |
Het |
| Prrt4 |
G |
T |
6: 29,171,429 (GRCm39) |
P341Q |
probably benign |
Het |
| Psd3 |
A |
G |
8: 68,270,697 (GRCm39) |
V21A |
possibly damaging |
Het |
| Rhot1 |
T |
A |
11: 80,124,310 (GRCm39) |
C157* |
probably null |
Het |
| Rnase9 |
C |
T |
14: 51,276,673 (GRCm39) |
V102M |
probably benign |
Het |
| Rpgrip1l |
A |
C |
8: 91,987,426 (GRCm39) |
M877R |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,705,436 (GRCm39) |
Y806C |
probably damaging |
Het |
| Smox |
C |
T |
2: 131,364,031 (GRCm39) |
A45V |
possibly damaging |
Het |
| Sympk |
A |
G |
7: 18,771,968 (GRCm39) |
D344G |
probably benign |
Het |
| Tcf12 |
G |
A |
9: 71,914,041 (GRCm39) |
Q76* |
probably null |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Ttc19 |
A |
G |
11: 62,204,863 (GRCm39) |
Y318C |
probably damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,600,533 (GRCm39) |
D610E |
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,047,209 (GRCm39) |
T701A |
possibly damaging |
Het |
| Zfp268 |
T |
C |
4: 145,347,186 (GRCm39) |
L30P |
probably damaging |
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 |
|
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 |
|
R7636:Gsdmc2
|
UTSW |
15 |
63,700,041 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- AAATGTATCCAGGACGTAGGC -3'
(R):5'- CCAATGCTTAGGGCTTCAGG -3'
Sequencing Primer
(F):5'- CAGGACGTAGGCTGGGCTTG -3'
(R):5'- GCTTCAGGCCTTGCTCATTAGG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation