Incidental Mutation 'R7589:Gsdmc2'
| ID |
587326 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsdmc2
|
| Ensembl Gene |
ENSMUSG00000056293 |
| Gene Name |
gasdermin C2 |
| Synonyms |
|
| MMRRC Submission |
045637-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R7589 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
63696195-63717026 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 63696892 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 426
(L426F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141066
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089900]
[ENSMUST00000188404]
[ENSMUST00000188691]
|
| AlphaFold |
Q2KHK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089900
AA Change: L426F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087344
Gene: ENSMUSG00000056293
AA Change: L426F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.8e-157 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188404
AA Change: L426F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141066
Gene: ENSMUSG00000056293
AA Change: L426F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.7e-148 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188691
AA Change: L426F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140487
Gene: ENSMUSG00000056293
AA Change: L426F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.7e-148 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
G |
7: 41,276,396 (GRCm39) |
C700G |
probably damaging |
Het |
| 4930486L24Rik |
T |
C |
13: 60,990,747 (GRCm39) |
K316E |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,188,846 (GRCm39) |
K2087* |
probably null |
Het |
| Alpk2 |
A |
T |
18: 65,433,144 (GRCm39) |
H1320Q |
probably damaging |
Het |
| Aox1 |
A |
T |
1: 58,080,643 (GRCm39) |
R31W |
probably damaging |
Het |
| Asnsd1 |
G |
T |
1: 53,387,126 (GRCm39) |
A167E |
probably benign |
Het |
| Atg14 |
T |
C |
14: 47,780,547 (GRCm39) |
D409G |
probably benign |
Het |
| Atp13a3 |
T |
A |
16: 30,163,433 (GRCm39) |
E574D |
probably benign |
Het |
| Bicd1 |
A |
T |
6: 149,415,165 (GRCm39) |
Y626F |
possibly damaging |
Het |
| Cdc5l |
C |
T |
17: 45,721,707 (GRCm39) |
R521Q |
probably benign |
Het |
| Dglucy |
T |
C |
12: 100,807,660 (GRCm39) |
F160L |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fmo9 |
T |
A |
1: 166,501,997 (GRCm39) |
K209N |
possibly damaging |
Het |
| Hip1 |
T |
C |
5: 135,443,165 (GRCm39) |
D956G |
probably benign |
Het |
| Kif28 |
C |
T |
1: 179,558,965 (GRCm39) |
V248I |
probably benign |
Het |
| Klk10 |
T |
C |
7: 43,433,051 (GRCm39) |
V149A |
probably benign |
Het |
| Krt40 |
G |
T |
11: 99,430,983 (GRCm39) |
N255K |
probably damaging |
Het |
| Map4k4 |
T |
A |
1: 40,060,251 (GRCm39) |
Y1013* |
probably null |
Het |
| Mcur1 |
T |
C |
13: 43,705,101 (GRCm39) |
Y185C |
probably damaging |
Het |
| Mzt1 |
T |
C |
14: 99,273,948 (GRCm39) |
|
probably null |
Het |
| Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
| Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
| Nkx1-2 |
T |
C |
7: 132,201,204 (GRCm39) |
I18V |
probably damaging |
Het |
| Ofcc1 |
T |
A |
13: 40,408,960 (GRCm39) |
Q155L |
probably benign |
Het |
| Or1ad1 |
A |
T |
11: 50,875,857 (GRCm39) |
M110L |
probably damaging |
Het |
| Or4a2 |
A |
G |
2: 89,248,724 (GRCm39) |
V11A |
possibly damaging |
Het |
| Or4k38 |
T |
C |
2: 111,165,719 (GRCm39) |
K235E |
probably damaging |
Het |
| Or51q1 |
T |
C |
7: 103,628,998 (GRCm39) |
Y200H |
probably damaging |
Het |
| Or9s15 |
G |
A |
1: 92,524,781 (GRCm39) |
R180H |
probably benign |
Het |
| Prnp |
A |
G |
2: 131,778,786 (GRCm39) |
D146G |
probably benign |
Het |
| Rhbdf1 |
C |
T |
11: 32,162,903 (GRCm39) |
V455I |
probably benign |
Het |
| Rnf6 |
G |
A |
5: 146,148,239 (GRCm39) |
R260W |
possibly damaging |
Het |
| Rtl1 |
T |
C |
12: 109,560,279 (GRCm39) |
N520S |
possibly damaging |
Het |
| Setbp1 |
A |
T |
18: 78,899,707 (GRCm39) |
M1320K |
probably benign |
Het |
| Slc39a8 |
A |
G |
3: 135,590,123 (GRCm39) |
T338A |
probably damaging |
Het |
| Tcf4 |
A |
G |
18: 69,815,890 (GRCm39) |
*693W |
probably null |
Het |
| Ttc8 |
A |
T |
12: 98,942,696 (GRCm39) |
D412V |
probably damaging |
Het |
| Ush2a |
G |
T |
1: 188,275,046 (GRCm39) |
A1840S |
probably benign |
Het |
| Vmn1r60 |
A |
T |
7: 5,547,688 (GRCm39) |
S137R |
|
Het |
| Vmn1r91 |
T |
A |
7: 19,835,802 (GRCm39) |
H240Q |
probably benign |
Het |
| Vmn2r107 |
A |
T |
17: 20,595,634 (GRCm39) |
H729L |
probably benign |
Het |
| Yme1l1 |
C |
T |
2: 23,050,274 (GRCm39) |
T35I |
probably benign |
Het |
| Zfp292 |
A |
G |
4: 34,806,777 (GRCm39) |
V2094A |
probably damaging |
Het |
| Zfp934 |
A |
T |
13: 62,666,130 (GRCm39) |
N202K |
|
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 |
|
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'- AGGAGCCATAGCATCTTTATTCCC -3'
(R):5'- GGTGTTGGGACAGATCTTACC -3'
Sequencing Primer
(F):5'- CACTGGCCTAAAACATGCATGGTG -3'
(R):5'- TGGGACAGATCTTACCCTGGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation