Incidental Mutation 'R6872:Gsdmc'
ID 536229
Institutional Source Beutler Lab
Gene Symbol Gsdmc
Ensembl Gene ENSMUSG00000079025
Gene Name gasdermin C
Synonyms Mlze, Gsdmc1
MMRRC Submission 044969-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R6872 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 63647820-63680588 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63650556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 275 (D275G)
Ref Sequence ENSEMBL: ENSMUSP00000105752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110125] [ENSMUST00000173503]
AlphaFold Q99NB5
Predicted Effect possibly damaging
Transcript: ENSMUST00000110125
AA Change: D275G

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105752
Gene: ENSMUSG00000079025
AA Change: D275G

DomainStartEndE-ValueType
Pfam:Gasdermin 4 444 6.2e-170 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000173503
AA Change: D266G
SMART Domains Protein: ENSMUSP00000133683
Gene: ENSMUSG00000079025
AA Change: D266G

DomainStartEndE-ValueType
Pfam:Gasdermin 4 435 9.6e-157 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G A 4: 144,349,750 (GRCm39) V336I probably benign Het
Aadacl4fm4 A T 4: 144,397,216 (GRCm39) L172* probably null Het
Abcg3 T C 5: 105,083,860 (GRCm39) T637A probably benign Het
Ap3d1 G A 10: 80,550,156 (GRCm39) R692* probably null Het
Aqp2 C T 15: 99,481,885 (GRCm39) H260Y probably benign Het
Btbd2 C A 10: 80,480,166 (GRCm39) R383L probably damaging Het
Ccdc196 T A 12: 78,244,141 (GRCm39) D31E probably damaging Het
Ccdc24 T C 4: 117,727,123 (GRCm39) T196A probably benign Het
Cdc20b G A 13: 113,220,509 (GRCm39) G463S probably damaging Het
Ceacam5 A T 7: 17,486,212 (GRCm39) R570* probably null Het
Col12a1 A T 9: 79,584,516 (GRCm39) N1357K probably damaging Het
Cpa5 A T 6: 30,614,053 (GRCm39) Q65L probably benign Het
Ddo A C 10: 40,513,414 (GRCm39) M119L possibly damaging Het
Dnah8 G T 17: 30,981,653 (GRCm39) L3058F probably damaging Het
Dnajb8 A G 6: 88,200,022 (GRCm39) N186S probably damaging Het
Dock4 T C 12: 40,862,325 (GRCm39) probably null Het
Ear6 A G 14: 52,091,885 (GRCm39) Y144C probably damaging Het
Eng T A 2: 32,563,287 (GRCm39) I281N probably damaging Het
Fgf2 A G 3: 37,458,860 (GRCm39) K85E probably damaging Het
Fubp1 A T 3: 151,931,783 (GRCm39) Q37L probably benign Het
Gabra2 G T 5: 71,251,882 (GRCm39) P22T probably damaging Het
Gm10401 T C 5: 115,236,245 (GRCm39) probably benign Het
Iglv3 A G 16: 19,060,034 (GRCm39) I98T probably damaging Het
Lmod1 G T 1: 135,292,879 (GRCm39) R578L probably damaging Het
Mindy2 A G 9: 70,524,044 (GRCm39) probably null Het
Neb G T 2: 52,183,657 (GRCm39) Q1004K probably damaging Het
Nkx2-9 T G 12: 56,658,674 (GRCm39) N180T probably benign Het
Nlrp2 C T 7: 5,311,709 (GRCm39) R922H probably benign Het
Nol4l T C 2: 153,325,737 (GRCm39) E116G probably damaging Het
Or1af1 A T 2: 37,109,989 (GRCm39) M163L possibly damaging Het
Or5ac19 A G 16: 59,089,961 (GRCm39) L23P probably benign Het
Pcdhb20 A C 18: 37,639,218 (GRCm39) E581D probably benign Het
Pidd1 G T 7: 141,019,331 (GRCm39) T750K probably benign Het
Rab44 A G 17: 29,358,784 (GRCm39) E324G probably benign Het
Ramp3 T C 11: 6,624,768 (GRCm39) C21R possibly damaging Het
Rpap1 A C 2: 119,605,850 (GRCm39) M345R probably damaging Het
Serpina3k A C 12: 104,310,519 (GRCm39) K350Q probably benign Het
St13 C T 15: 81,250,547 (GRCm39) probably null Het
Stard9 A T 2: 120,544,549 (GRCm39) K4497* probably null Het
Tbx19 A T 1: 164,975,202 (GRCm39) probably null Het
Tgoln1 A G 6: 72,592,538 (GRCm39) V314A possibly damaging Het
Them4 A T 3: 94,231,678 (GRCm39) I172F probably damaging Het
Tmc7 T A 7: 118,146,846 (GRCm39) Y477F probably benign Het
Tmem132a A G 19: 10,840,669 (GRCm39) L421P probably damaging Het
Trim69 A G 2: 121,998,391 (GRCm39) E121G probably damaging Het
Vmn2r11 T G 5: 109,194,976 (GRCm39) R783S possibly damaging Het
Vmn2r62 T A 7: 42,438,412 (GRCm39) L141F probably benign Het
Zbtb7a A G 10: 80,983,905 (GRCm39) N449S possibly damaging Het
Zfhx3 C T 8: 109,527,273 (GRCm39) R1057W probably damaging Het
Zfp180 G T 7: 23,805,306 (GRCm39) C575F probably damaging Het
Zfp462 G A 4: 55,012,326 (GRCm39) A1431T probably benign Het
Zfp592 T C 7: 80,673,576 (GRCm39) V180A probably benign Het
Zfp605 C T 5: 110,275,311 (GRCm39) P143L probably benign Het
Zfp646 T C 7: 127,482,505 (GRCm39) S1561P probably benign Het
Zfp706 T C 15: 37,002,190 (GRCm39) T46A possibly damaging Het
Other mutations in Gsdmc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Gsdmc APN 15 63,676,270 (GRCm39) missense probably benign 0.41
IGL00791:Gsdmc APN 15 63,676,284 (GRCm39) missense possibly damaging 0.85
IGL01889:Gsdmc APN 15 63,651,852 (GRCm39) missense possibly damaging 0.89
IGL01917:Gsdmc APN 15 63,650,434 (GRCm39) missense probably benign
IGL01948:Gsdmc APN 15 63,650,430 (GRCm39) missense probably damaging 1.00
IGL02391:Gsdmc APN 15 63,675,428 (GRCm39) missense probably damaging 0.99
IGL02479:Gsdmc APN 15 63,649,824 (GRCm39) missense possibly damaging 0.87
IGL02551:Gsdmc APN 15 63,673,782 (GRCm39) missense probably benign 0.00
R0115:Gsdmc UTSW 15 63,675,486 (GRCm39) missense probably damaging 0.99
R1523:Gsdmc UTSW 15 63,675,479 (GRCm39) missense probably damaging 0.99
R1655:Gsdmc UTSW 15 63,651,892 (GRCm39) missense probably benign 0.42
R1990:Gsdmc UTSW 15 63,673,748 (GRCm39) missense probably benign 0.12
R1991:Gsdmc UTSW 15 63,673,748 (GRCm39) missense probably benign 0.12
R2267:Gsdmc UTSW 15 63,648,647 (GRCm39) missense probably benign 0.12
R2882:Gsdmc UTSW 15 63,651,644 (GRCm39) missense probably benign 0.24
R2943:Gsdmc UTSW 15 63,675,501 (GRCm39) missense possibly damaging 0.91
R4110:Gsdmc UTSW 15 63,651,876 (GRCm39) missense probably benign 0.08
R4712:Gsdmc UTSW 15 63,651,386 (GRCm39) missense probably benign 0.01
R4963:Gsdmc UTSW 15 63,676,229 (GRCm39) critical splice donor site probably null
R4997:Gsdmc UTSW 15 63,648,629 (GRCm39) missense probably damaging 1.00
R5032:Gsdmc UTSW 15 63,673,882 (GRCm39) missense possibly damaging 0.63
R5276:Gsdmc UTSW 15 63,673,806 (GRCm39) missense probably benign 0.25
R5346:Gsdmc UTSW 15 63,648,735 (GRCm39) missense probably damaging 1.00
R5963:Gsdmc UTSW 15 63,651,965 (GRCm39) splice site probably null
R5965:Gsdmc UTSW 15 63,676,447 (GRCm39) critical splice acceptor site probably null
R7035:Gsdmc UTSW 15 63,650,569 (GRCm39) splice site probably null
R7408:Gsdmc UTSW 15 63,676,315 (GRCm39) missense probably benign
R7719:Gsdmc UTSW 15 63,650,813 (GRCm39) splice site probably null
R7862:Gsdmc UTSW 15 63,649,845 (GRCm39) missense possibly damaging 0.52
R8528:Gsdmc UTSW 15 63,649,189 (GRCm39) splice site probably null
R8697:Gsdmc UTSW 15 63,651,883 (GRCm39) missense probably benign 0.12
R9069:Gsdmc UTSW 15 63,649,902 (GRCm39) missense probably benign 0.12
R9253:Gsdmc UTSW 15 63,676,407 (GRCm39) missense probably damaging 0.99
R9312:Gsdmc UTSW 15 63,649,806 (GRCm39) missense probably damaging 0.98
R9385:Gsdmc UTSW 15 63,675,486 (GRCm39) missense possibly damaging 0.89
R9476:Gsdmc UTSW 15 63,650,551 (GRCm39) missense probably benign 0.03
R9511:Gsdmc UTSW 15 63,649,897 (GRCm39) missense probably benign 0.20
Predicted Primers PCR Primer
(F):5'- ACATCATTCTCAGCGTCCTCAG -3'
(R):5'- AATGCTTCCTGGTTTCTGGC -3'

Sequencing Primer
(F):5'- CCAAACTGACCGTTACAGGTTTG -3'
(R):5'- CCTGGTTTCTGGCTCCATGATAG -3'
Posted On 2018-10-18