Incidental Mutation 'R9577:Gsdmc2'
| ID |
722379 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsdmc2
|
| Ensembl Gene |
ENSMUSG00000056293 |
| Gene Name |
gasdermin C2 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R9577 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
63696195-63717026 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 63696906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 422
(I422F)
|
| 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: I422F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087344
Gene: ENSMUSG00000056293
AA Change: I422F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.8e-157 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188404
AA Change: I422F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141066
Gene: ENSMUSG00000056293
AA Change: I422F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.7e-148 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188691
AA Change: I422F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140487
Gene: ENSMUSG00000056293
AA Change: I422F
| 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: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
G |
T |
18: 24,608,663 (GRCm39) |
A128S |
probably benign |
Het |
| Abca14 |
T |
C |
7: 119,810,768 (GRCm39) |
Y116H |
probably benign |
Het |
| Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
| Ankar |
C |
A |
1: 72,721,067 (GRCm39) |
V464L |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,769,060 (GRCm39) |
I1526N |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 80,004,996 (GRCm39) |
N1144K |
probably damaging |
Het |
| B3gntl1 |
T |
C |
11: 121,515,040 (GRCm39) |
T243A |
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,809,031 (GRCm39) |
T73A |
probably benign |
Het |
| Bnip5 |
A |
T |
17: 29,128,382 (GRCm39) |
I177K |
probably benign |
Het |
| Brms1l |
A |
G |
12: 55,906,876 (GRCm39) |
S148G |
probably damaging |
Het |
| Btnl1 |
A |
G |
17: 34,603,335 (GRCm39) |
D332G |
probably benign |
Het |
| Card9 |
T |
A |
2: 26,242,344 (GRCm39) |
T531S |
probably damaging |
Het |
| Ccdc71 |
C |
T |
9: 108,340,472 (GRCm39) |
A95V |
possibly damaging |
Het |
| Cdh23 |
A |
G |
10: 60,146,895 (GRCm39) |
V2787A |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,752,964 (GRCm39) |
E487G |
unknown |
Het |
| Col22a1 |
T |
C |
15: 71,837,595 (GRCm39) |
K505R |
probably damaging |
Het |
| Dennd1b |
T |
C |
1: 139,018,196 (GRCm39) |
V180A |
|
Het |
| Dmxl2 |
A |
G |
9: 54,323,664 (GRCm39) |
V1066A |
unknown |
Het |
| Dnah9 |
C |
T |
11: 65,867,347 (GRCm39) |
V2744M |
probably benign |
Het |
| Fam83e |
G |
T |
7: 45,376,439 (GRCm39) |
R384L |
possibly damaging |
Het |
| Fbxo42 |
T |
A |
4: 140,907,743 (GRCm39) |
Y134* |
probably null |
Het |
| Fmn1 |
C |
T |
2: 113,194,470 (GRCm39) |
P57S |
unknown |
Het |
| Gm6309 |
T |
C |
5: 146,105,700 (GRCm39) |
R155G |
possibly damaging |
Het |
| Gnpda1 |
T |
C |
18: 38,463,605 (GRCm39) |
T235A |
probably benign |
Het |
| Itfg1 |
A |
G |
8: 86,502,798 (GRCm39) |
V256A |
probably benign |
Het |
| Kcnk2 |
CAAA |
CAA |
1: 188,988,891 (GRCm39) |
|
probably null |
Het |
| Kif14 |
T |
C |
1: 136,399,138 (GRCm39) |
V433A |
probably benign |
Het |
| Kif3a |
T |
C |
11: 53,475,231 (GRCm39) |
F363S |
probably damaging |
Het |
| Lman2l |
T |
C |
1: 36,467,490 (GRCm39) |
D186G |
probably damaging |
Het |
| Lmntd2 |
T |
C |
7: 140,790,990 (GRCm39) |
T448A |
probably benign |
Het |
| Magi2 |
C |
T |
5: 20,814,282 (GRCm39) |
A898V |
probably damaging |
Het |
| Mri1 |
A |
G |
8: 84,982,929 (GRCm39) |
V164A |
probably damaging |
Het |
| Myb |
C |
T |
10: 21,030,612 (GRCm39) |
D62N |
probably benign |
Het |
| Nxpe2 |
G |
A |
9: 48,237,632 (GRCm39) |
R208* |
probably null |
Het |
| Or1j1 |
C |
A |
2: 36,702,567 (GRCm39) |
C179F |
probably damaging |
Het |
| Or8g28 |
A |
G |
9: 39,169,737 (GRCm39) |
V77A |
possibly damaging |
Het |
| Pcdha12 |
C |
T |
18: 37,155,126 (GRCm39) |
A615V |
probably benign |
Het |
| Pou4f3 |
C |
G |
18: 42,528,563 (GRCm39) |
P169A |
probably benign |
Het |
| Pramel52-ps |
A |
T |
5: 94,531,805 (GRCm39) |
R230* |
probably null |
Het |
| Prss36 |
T |
C |
7: 127,533,673 (GRCm39) |
I556V |
probably benign |
Het |
| Psg23 |
A |
T |
7: 18,346,067 (GRCm39) |
D209E |
probably benign |
Het |
| Ptpn13 |
C |
A |
5: 103,676,675 (GRCm39) |
D679E |
probably damaging |
Het |
| Ptprz1 |
G |
T |
6: 23,002,202 (GRCm39) |
D1431Y |
probably damaging |
Het |
| Sdccag8 |
T |
A |
1: 176,658,629 (GRCm39) |
L143M |
probably damaging |
Het |
| Shroom1 |
A |
G |
11: 53,357,612 (GRCm39) |
Q721R |
probably benign |
Het |
| Spdye4b |
A |
G |
5: 143,182,055 (GRCm39) |
M118V |
probably damaging |
Het |
| Tbc1d1 |
T |
A |
5: 64,473,699 (GRCm39) |
S741T |
possibly damaging |
Het |
| Tbx18 |
A |
G |
9: 87,611,512 (GRCm39) |
|
probably null |
Het |
| Tm9sf4 |
T |
C |
2: 153,037,294 (GRCm39) |
F385S |
probably benign |
Het |
| Trpm4 |
A |
T |
7: 44,954,432 (GRCm39) |
L1133* |
probably null |
Het |
| Trpm5 |
A |
G |
7: 142,633,131 (GRCm39) |
|
probably null |
Het |
| Ube4b |
A |
G |
4: 149,468,231 (GRCm39) |
S182P |
possibly damaging |
Het |
| Ugt2b36 |
T |
C |
5: 87,228,784 (GRCm39) |
T420A |
probably benign |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Zc3h6 |
T |
A |
2: 128,858,102 (GRCm39) |
I711K |
|
Het |
| Zer1 |
T |
C |
2: 29,991,050 (GRCm39) |
Y726C |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAATGTATCCAGGACGTAGGC -3'
(R):5'- CAATGCTTAGGGCTTCAGGC -3'
Sequencing Primer
(F):5'- CAGGACGTAGGCTGGGCTTG -3'
(R):5'- GCTTCAGGCCTTGCTCATTAGG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation