Incidental Mutation 'R3722:Spink4'
ID 258949
Institutional Source Beutler Lab
Gene Symbol Spink4
Ensembl Gene ENSMUSG00000028415
Gene Name serine peptidase inhibitor, Kazal type 4
Synonyms MPGC60
MMRRC Submission 040713-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R3722 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 40920056-40931395 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40929136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 54 (C54S)
Ref Sequence ENSEMBL: ENSMUSP00000030122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030122]
AlphaFold O35679
Predicted Effect probably damaging
Transcript: ENSMUST00000030122
AA Change: C54S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030122
Gene: ENSMUSG00000028415
AA Change: C54S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
KAZAL 36 86 4.88e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132943
Meta Mutation Damage Score 0.7006 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb A T 10: 10,216,254 (GRCm39) S1485T probably benign Het
Akap9 A G 5: 4,120,351 (GRCm39) Y3589C probably damaging Het
Alkbh8 T C 9: 3,385,153 (GRCm39) Y482H probably damaging Het
Appl1 G A 14: 26,649,801 (GRCm39) T575M probably damaging Het
Arhgap21 T C 2: 20,855,102 (GRCm39) E1420G probably damaging Het
Asic3 A T 5: 24,621,997 (GRCm39) Y419F probably benign Het
Atg7 A G 6: 114,672,624 (GRCm39) Y279C probably damaging Het
Braf G A 6: 39,600,610 (GRCm39) P616L probably damaging Het
Btnl2 T C 17: 34,577,109 (GRCm39) M88T possibly damaging Het
C1rb T A 6: 124,557,620 (GRCm39) Y586N probably damaging Het
Cacna1s T C 1: 135,996,780 (GRCm39) F127S possibly damaging Het
Cd47 A G 16: 49,688,205 (GRCm39) I42V probably benign Het
Cox8b T A 7: 140,478,918 (GRCm39) K66* probably null Het
Diras2 T A 13: 52,662,059 (GRCm39) I83F probably damaging Het
Dlg2 T A 7: 91,361,008 (GRCm39) probably null Het
Dnah8 G A 17: 31,073,872 (GRCm39) R4514H probably damaging Het
Dnai1 G A 4: 41,602,615 (GRCm39) R113H probably damaging Het
Dolpp1 T C 2: 30,287,500 (GRCm39) L204P probably damaging Het
Fam170a C T 18: 50,415,271 (GRCm39) P306S probably benign Het
Fbxl12 A T 9: 20,550,268 (GRCm39) probably null Het
Fndc3a T A 14: 72,777,648 (GRCm39) I1186F probably benign Het
Gm12886 T A 4: 121,274,667 (GRCm39) D71V probably damaging Het
H3c8 T C 13: 23,719,722 (GRCm39) V36A possibly damaging Het
Ica1 A G 6: 8,659,021 (GRCm39) probably benign Het
Ighv8-11 A G 12: 115,530,771 (GRCm39) I119T possibly damaging Het
Ism1 A T 2: 139,573,931 (GRCm39) R94* probably null Het
Kbtbd11 T A 8: 15,079,118 (GRCm39) C572* probably null Het
Kcnk15 T C 2: 163,700,214 (GRCm39) L132P probably damaging Het
Lrmda T A 14: 22,077,399 (GRCm39) probably benign Het
Mei1 A G 15: 81,987,405 (GRCm39) H399R possibly damaging Het
Mrtfb C T 16: 13,203,557 (GRCm39) A201V probably damaging Het
Ncstn G A 1: 171,895,462 (GRCm39) T562M possibly damaging Het
Nudt4 A T 10: 95,385,367 (GRCm39) probably null Het
Omp T C 7: 97,794,420 (GRCm39) N69S probably benign Het
Or10d3 A C 9: 39,461,418 (GRCm39) C250G probably damaging Het
Or4a75 A T 2: 89,448,503 (GRCm39) I11N possibly damaging Het
Pak1 C T 7: 97,503,704 (GRCm39) P13L probably damaging Het
Pde4d T A 13: 110,087,866 (GRCm39) C744* probably null Het
Pelp1 T C 11: 70,289,026 (GRCm39) Y240C possibly damaging Het
Pou2f1 G C 1: 165,722,538 (GRCm39) P349R probably damaging Het
Ptprk A G 10: 28,259,619 (GRCm39) D353G probably damaging Het
Ptprs A G 17: 56,724,485 (GRCm39) F1152S probably damaging Het
Rnf135 G T 11: 80,087,743 (GRCm39) A231S probably benign Het
Rpn1 G A 6: 88,067,282 (GRCm39) probably null Het
Rreb1 T A 13: 38,131,074 (GRCm39) D1409E probably benign Het
Sipa1l2 G A 8: 126,200,323 (GRCm39) H668Y probably damaging Het
Slc35a5 A T 16: 44,967,685 (GRCm39) I138N probably damaging Het
Slc35d1 T C 4: 103,065,321 (GRCm39) K187E possibly damaging Het
Slc44a2 A T 9: 21,254,273 (GRCm39) I212F possibly damaging Het
Slc7a1 G A 5: 148,272,343 (GRCm39) R445* probably null Het
Snapc4 A G 2: 26,255,440 (GRCm39) L1028P probably benign Het
Snrnp40 C T 4: 130,262,068 (GRCm39) T152I possibly damaging Het
Spata31f1a T C 4: 42,851,472 (GRCm39) E228G probably benign Het
Tex2 C T 11: 106,437,566 (GRCm39) W203* probably null Het
Tmcc1 T C 6: 116,110,783 (GRCm39) E170G possibly damaging Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Ttll6 A G 11: 96,024,747 (GRCm39) N46D probably benign Het
Txk T A 5: 72,865,078 (GRCm39) K266* probably null Het
Uggt2 T C 14: 119,278,930 (GRCm39) E859G probably damaging Het
Uros A T 7: 133,304,120 (GRCm39) M1K probably null Het
Vps13b T A 15: 35,671,528 (GRCm39) I1677N probably damaging Het
Zbtb5 A G 4: 44,994,863 (GRCm39) probably null Het
Zfp760 A G 17: 21,941,143 (GRCm39) Y106C probably damaging Het
Other mutations in Spink4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02449:Spink4 APN 4 40,929,190 (GRCm39) missense probably benign 0.10
R1216:Spink4 UTSW 4 40,924,974 (GRCm39) splice site probably benign
R1439:Spink4 UTSW 4 40,929,121 (GRCm39) missense possibly damaging 0.58
R3720:Spink4 UTSW 4 40,929,136 (GRCm39) missense probably damaging 1.00
R3721:Spink4 UTSW 4 40,929,136 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTCAACAGACATAGGCTC -3'
(R):5'- AGCTAAGGACTCTTTTCTGGCC -3'

Sequencing Primer
(F):5'- TATGTATATACATCCCACCACGTG -3'
(R):5'- TAAGGACTCTTTTCTGGCCATGTCAG -3'
Posted On 2015-01-23