Incidental Mutation 'R5910:Gsdmc4'
ID 460957
Institutional Source Beutler Lab
Gene Symbol Gsdmc4
Ensembl Gene ENSMUSG00000055748
Gene Name gasdermin C4
Synonyms 9030605I04Rik
MMRRC Submission 044107-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R5910 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 63763113-63784146 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 63767101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 223 (S223F)
Ref Sequence ENSEMBL: ENSMUSP00000140269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063530] [ENSMUST00000188108]
AlphaFold Q3TR54
Predicted Effect possibly damaging
Transcript: ENSMUST00000063530
AA Change: S223F

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000066072
Gene: ENSMUSG00000055748
AA Change: S223F

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 1.2e-162 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185431
Predicted Effect possibly damaging
Transcript: ENSMUST00000188108
AA Change: S223F

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140269
Gene: ENSMUSG00000055748
AA Change: S223F

DomainStartEndE-ValueType
Pfam:Gasdermin 4 443 3.8e-153 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.5%
Validation Efficiency 95% (93/98)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,645,076 (GRCm39) N976D probably damaging Het
Adamts1 G A 16: 85,599,037 (GRCm39) R188W probably benign Het
Adcy4 A T 14: 56,016,470 (GRCm39) V327D probably damaging Het
Alg8 T C 7: 97,039,493 (GRCm39) I408T possibly damaging Het
Ankib1 T C 5: 3,743,217 (GRCm39) S933G probably benign Het
Ap2a2 A G 7: 141,178,691 (GRCm39) D106G probably damaging Het
Arhgap22 A T 14: 33,088,572 (GRCm39) H351L probably damaging Het
Arhgef2 A G 3: 88,542,327 (GRCm39) Y310C probably damaging Het
Atm A T 9: 53,359,380 (GRCm39) S2804R probably damaging Het
Baz2b A G 2: 59,807,770 (GRCm39) L163P possibly damaging Het
Bcl2l12 C T 7: 44,645,967 (GRCm39) probably null Het
Cdh23 A G 10: 60,213,600 (GRCm39) V1495A possibly damaging Het
Cep78 A G 19: 15,946,492 (GRCm39) S447P possibly damaging Het
Cfap43 G A 19: 47,768,710 (GRCm39) T778I possibly damaging Het
Cfap54 A T 10: 92,901,043 (GRCm39) N170K probably damaging Het
Cmya5 A T 13: 93,229,151 (GRCm39) L1979Q probably damaging Het
Col15a1 A T 4: 47,289,514 (GRCm39) E846D probably damaging Het
Col5a1 A G 2: 27,926,900 (GRCm39) K308E possibly damaging Het
Dcst1 T A 3: 89,257,731 (GRCm39) T680S possibly damaging Het
Dsp T C 13: 38,376,445 (GRCm39) L1410P possibly damaging Het
Edem3 T A 1: 151,646,578 (GRCm39) probably null Het
Efcab3 A T 11: 104,581,760 (GRCm39) E34V probably benign Het
Eif4e2 T A 1: 87,148,696 (GRCm39) Y64N probably damaging Het
Fcgbp C T 7: 27,784,928 (GRCm39) probably benign Het
Gm7275 A T 16: 47,893,826 (GRCm39) noncoding transcript Het
Grin3b G T 10: 79,808,855 (GRCm39) V202L probably benign Het
H2bc14 A G 13: 21,906,470 (GRCm39) N68S probably benign Het
Hbp1 T C 12: 31,987,651 (GRCm39) H183R probably benign Het
Hectd3 A G 4: 116,859,331 (GRCm39) M652V probably benign Het
Hmgxb4 T C 8: 75,726,193 (GRCm39) F13L probably benign Het
Hnrnpab T C 11: 51,492,281 (GRCm39) K271R probably benign Het
Ilvbl A T 10: 78,412,947 (GRCm39) K156N probably benign Het
Iqce A T 5: 140,687,973 (GRCm39) probably benign Het
Itpr2 C A 6: 146,231,069 (GRCm39) V1194L probably benign Het
Kif18b A G 11: 102,804,370 (GRCm39) F384L probably benign Het
Klf14 A G 6: 30,934,774 (GRCm39) Y287H probably benign Het
Klhl6 A G 16: 19,775,844 (GRCm39) M238T probably benign Het
Lbp G A 2: 158,166,477 (GRCm39) V344I probably benign Het
Lrp12 T C 15: 39,739,439 (GRCm39) probably null Het
Mapk7 T A 11: 61,384,447 (GRCm39) M1L probably benign Het
Muc5b A G 7: 141,415,048 (GRCm39) T2665A possibly damaging Het
Ncln A T 10: 81,331,912 (GRCm39) probably null Het
Nfxl1 T C 5: 72,697,708 (GRCm39) R347G probably benign Het
Npnt C A 3: 132,612,179 (GRCm39) C231F probably damaging Het
Nrap T A 19: 56,330,743 (GRCm39) H1070L probably benign Het
Nrxn1 G T 17: 91,011,746 (GRCm39) Y294* probably null Het
Or4c126 A G 2: 89,823,782 (GRCm39) D15G probably benign Het
Or9s27 T C 1: 92,516,429 (GRCm39) Y126H probably damaging Het
Otog A G 7: 45,948,022 (GRCm39) H2341R possibly damaging Het
Paqr3 T C 5: 97,243,887 (GRCm39) probably null Het
Pcdhb11 T C 18: 37,556,796 (GRCm39) F709L probably benign Het
Phf12 G A 11: 77,918,224 (GRCm39) R812Q probably damaging Het
Polr2a A T 11: 69,637,696 (GRCm39) L216Q probably damaging Het
Polrmt A G 10: 79,579,331 (GRCm39) L140P probably benign Het
Pou2f3 C T 9: 43,045,769 (GRCm39) probably null Het
Prkcd A T 14: 30,317,938 (GRCm39) N548K probably benign Het
Pygb A G 2: 150,657,620 (GRCm39) D361G probably benign Het
Rpl9 A T 5: 65,546,044 (GRCm39) probably benign Het
Rubcnl A T 14: 75,272,912 (GRCm39) T211S probably benign Het
Rusc1 C T 3: 88,999,027 (GRCm39) G252S probably benign Het
Scnn1g A G 7: 121,337,318 (GRCm39) T60A probably damaging Het
Sipa1l2 T G 8: 126,218,423 (GRCm39) T305P probably benign Het
Slc18b1 T A 10: 23,700,565 (GRCm39) probably benign Het
Sp100 G A 1: 85,608,861 (GRCm39) probably null Het
Tekt5 A T 16: 10,205,017 (GRCm39) probably null Het
Tlnrd1 T A 7: 83,533,693 (GRCm39) probably benign Het
Tpcn1 A G 5: 120,685,462 (GRCm39) probably benign Het
Tpcn2 T C 7: 144,814,719 (GRCm39) I461V probably benign Het
Traf3ip1 A G 1: 91,455,467 (GRCm39) K643E probably damaging Het
Trim33 T C 3: 103,251,892 (GRCm39) C914R probably damaging Het
Trip11 G A 12: 101,849,738 (GRCm39) T1442I probably damaging Het
Ttll6 A G 11: 96,026,415 (GRCm39) M107V possibly damaging Het
Uap1l1 A G 2: 25,253,445 (GRCm39) probably benign Het
Ube3b T A 5: 114,553,370 (GRCm39) I914N possibly damaging Het
Usp24 A G 4: 106,237,665 (GRCm39) T1107A probably damaging Het
Usp40 A T 1: 87,896,122 (GRCm39) C811* probably null Het
Vps11 T C 9: 44,270,432 (GRCm39) probably null Het
Wdr91 A T 6: 34,868,422 (GRCm39) I433N possibly damaging Het
Zfp770 G C 2: 114,026,713 (GRCm39) S452* probably null Het
Other mutations in Gsdmc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00730:Gsdmc4 APN 15 63,769,653 (GRCm39) missense probably damaging 1.00
IGL02301:Gsdmc4 APN 15 63,767,113 (GRCm39) missense probably benign 0.00
IGL02586:Gsdmc4 APN 15 63,765,641 (GRCm39) missense probably damaging 0.98
IGL02747:Gsdmc4 APN 15 63,765,720 (GRCm39) missense probably benign 0.04
IGL02829:Gsdmc4 APN 15 63,764,497 (GRCm39) missense probably benign 0.01
IGL03233:Gsdmc4 APN 15 63,774,709 (GRCm39) missense probably damaging 1.00
R0835:Gsdmc4 UTSW 15 63,765,649 (GRCm39) missense probably damaging 1.00
R0981:Gsdmc4 UTSW 15 63,763,922 (GRCm39) missense probably damaging 1.00
R1946:Gsdmc4 UTSW 15 63,774,629 (GRCm39) missense probably benign 0.19
R2350:Gsdmc4 UTSW 15 63,765,014 (GRCm39) missense probably benign
R2967:Gsdmc4 UTSW 15 63,773,909 (GRCm39) missense probably benign 0.19
R3409:Gsdmc4 UTSW 15 63,763,895 (GRCm39) missense probably benign 0.09
R3410:Gsdmc4 UTSW 15 63,763,895 (GRCm39) missense probably benign 0.09
R4067:Gsdmc4 UTSW 15 63,765,736 (GRCm39) splice site probably null
R4840:Gsdmc4 UTSW 15 63,765,596 (GRCm39) missense probably benign 0.24
R5182:Gsdmc4 UTSW 15 63,765,653 (GRCm39) missense probably damaging 1.00
R5624:Gsdmc4 UTSW 15 63,764,503 (GRCm39) missense possibly damaging 0.91
R6533:Gsdmc4 UTSW 15 63,763,909 (GRCm39) missense probably damaging 1.00
R6698:Gsdmc4 UTSW 15 63,765,613 (GRCm39) missense probably benign 0.10
R7291:Gsdmc4 UTSW 15 63,774,689 (GRCm39) missense possibly damaging 0.81
R7598:Gsdmc4 UTSW 15 63,772,235 (GRCm39) missense probably damaging 1.00
R7691:Gsdmc4 UTSW 15 63,765,640 (GRCm39) missense probably damaging 1.00
R7851:Gsdmc4 UTSW 15 63,774,595 (GRCm39) nonsense probably null
R7881:Gsdmc4 UTSW 15 63,769,568 (GRCm39) missense possibly damaging 0.91
R8300:Gsdmc4 UTSW 15 63,766,790 (GRCm39) missense probably damaging 0.97
R8512:Gsdmc4 UTSW 15 63,763,808 (GRCm39) missense probably damaging 1.00
R9041:Gsdmc4 UTSW 15 63,774,586 (GRCm39) missense probably benign 0.10
R9357:Gsdmc4 UTSW 15 63,772,196 (GRCm39) missense probably benign 0.06
R9680:Gsdmc4 UTSW 15 63,774,706 (GRCm39) missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- CCACCCAAGAATTAGTGTTTGTCC -3'
(R):5'- AATGAAGGTTTCCGGGCAC -3'

Sequencing Primer
(F):5'- AGAATTAGTGTTTGTCCTTACATCCC -3'
(R):5'- TCAGTCCCTGATGTTTGG -3'
Posted On 2017-02-28