Incidental Mutation 'IGL02379:Spink12'
ID 291312
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spink12
Ensembl Gene ENSMUSG00000061144
Gene Name serine peptidase inhibitor, Kazal type 12
Synonyms 9230117E20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02379
Quality Score
Status
Chromosome 18
Chromosomal Location 44237474-44241610 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 44239575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000080025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081271]
AlphaFold Q9D256
Predicted Effect probably benign
Transcript: ENSMUST00000081271
SMART Domains Protein: ENSMUSP00000080025
Gene: ENSMUSG00000061144

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
KAZAL 49 105 4.52e-12 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,760,106 (GRCm39) I996F probably damaging Het
Adamts9 T A 6: 92,774,014 (GRCm39) D1133V probably damaging Het
Adi1 T A 12: 28,729,466 (GRCm39) D106E probably damaging Het
Agl A G 3: 116,572,740 (GRCm39) F837S probably damaging Het
Alb T A 5: 90,613,738 (GRCm39) D207E probably benign Het
Alms1 T G 6: 85,606,615 (GRCm39) V2286G probably damaging Het
Alpl G A 4: 137,469,869 (GRCm39) A485V probably damaging Het
Antxrl C A 14: 33,778,492 (GRCm39) probably null Het
Apc C T 18: 34,431,798 (GRCm39) T417I probably benign Het
Ash2l T C 8: 26,312,799 (GRCm39) D390G probably damaging Het
Asph G A 4: 9,474,980 (GRCm39) P582S probably damaging Het
Bcr T A 10: 74,992,980 (GRCm39) L825Q probably benign Het
Bhlha15 T A 5: 144,128,159 (GRCm39) N90K probably damaging Het
Cgnl1 T A 9: 71,552,835 (GRCm39) Y1043F possibly damaging Het
Chek1 T C 9: 36,635,242 (GRCm39) D47G probably benign Het
Clca4b T A 3: 144,627,619 (GRCm39) M451L probably benign Het
Csnk1g3 T C 18: 54,066,564 (GRCm39) S346P probably benign Het
Cspg4 G T 9: 56,799,893 (GRCm39) probably benign Het
Ctr9 A G 7: 110,650,726 (GRCm39) K884E probably damaging Het
Cyld T A 8: 89,471,556 (GRCm39) C813* probably null Het
Fn3k A T 11: 121,325,950 (GRCm39) T46S probably benign Het
Foxred1 T C 9: 35,121,282 (GRCm39) R89G probably benign Het
Gpr174 T C X: 106,337,084 (GRCm39) F299L probably damaging Het
Hdac7 T C 15: 97,706,266 (GRCm39) D312G probably damaging Het
Il36b A G 2: 24,044,650 (GRCm39) S17G probably benign Het
Kcna5 G T 6: 126,511,472 (GRCm39) P219T probably damaging Het
Kcnh2 A C 5: 24,531,636 (GRCm39) V425G probably damaging Het
Klk1b5 A G 7: 43,500,246 (GRCm39) N278S probably damaging Het
Mars2 T A 1: 55,277,212 (GRCm39) W272R probably damaging Het
Msl3l2 C A 10: 55,992,017 (GRCm39) S247R possibly damaging Het
Myh7 T C 14: 55,216,925 (GRCm39) E1144G probably damaging Het
Nefm T C 14: 68,357,688 (GRCm39) probably benign Het
Nwd2 A G 5: 63,962,644 (GRCm39) K743E probably damaging Het
Nyap2 C T 1: 81,065,147 (GRCm39) T53I probably damaging Het
Odad4 A T 11: 100,457,809 (GRCm39) N471Y possibly damaging Het
Or10ag58 T C 2: 87,265,668 (GRCm39) V279A probably benign Het
Or52z12 T C 7: 103,234,099 (GRCm39) V290A possibly damaging Het
Peli2 A G 14: 48,405,755 (GRCm39) H60R probably damaging Het
Pias2 T A 18: 77,232,844 (GRCm39) probably benign Het
Pik3c2b A G 1: 133,022,529 (GRCm39) D1157G probably damaging Het
Pip4k2a C T 2: 18,870,922 (GRCm39) probably null Het
Raf1 A T 6: 115,621,509 (GRCm39) D23E probably benign Het
Rhox10 G A X: 37,155,733 (GRCm39) R87H probably benign Het
Rpgrip1 A G 14: 52,376,345 (GRCm39) T449A possibly damaging Het
Serpina3a T A 12: 104,084,919 (GRCm39) S105T probably benign Het
Slc12a9 T G 5: 137,319,691 (GRCm39) Q608P probably damaging Het
Smg6 C A 11: 74,944,751 (GRCm39) P167T probably damaging Het
Spata7 C T 12: 98,600,519 (GRCm39) T44I probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stag2 C T X: 41,339,474 (GRCm39) T754I probably benign Het
Supt6 C T 11: 78,116,195 (GRCm39) V723M possibly damaging Het
Ubr3 A G 2: 69,778,832 (GRCm39) D614G possibly damaging Het
Vps39 T A 2: 120,154,089 (GRCm39) K624N probably benign Het
Vwa5b1 A T 4: 138,340,170 (GRCm39) L29Q probably damaging Het
Wtap G A 17: 13,188,336 (GRCm39) A188V probably benign Het
Zc3hc1 A G 6: 30,390,974 (GRCm39) F5L probably benign Het
Zfp655 C T 5: 145,180,765 (GRCm39) P208S probably benign Het
Zswim3 A T 2: 164,662,602 (GRCm39) probably null Het
Other mutations in Spink12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00706:Spink12 APN 18 44,240,872 (GRCm39) missense probably damaging 1.00
IGL00731:Spink12 APN 18 44,241,177 (GRCm39) utr 3 prime probably benign
IGL01694:Spink12 APN 18 44,240,827 (GRCm39) missense probably damaging 1.00
IGL02702:Spink12 APN 18 44,237,836 (GRCm39) missense probably benign 0.00
R0001:Spink12 UTSW 18 44,240,763 (GRCm39) missense probably damaging 1.00
R0002:Spink12 UTSW 18 44,240,763 (GRCm39) missense probably damaging 1.00
R0043:Spink12 UTSW 18 44,240,763 (GRCm39) missense probably damaging 1.00
R0043:Spink12 UTSW 18 44,240,763 (GRCm39) missense probably damaging 1.00
R0565:Spink12 UTSW 18 44,237,755 (GRCm39) nonsense probably null
R0639:Spink12 UTSW 18 44,240,831 (GRCm39) nonsense probably null
R1636:Spink12 UTSW 18 44,240,795 (GRCm39) missense probably benign 0.10
R4073:Spink12 UTSW 18 44,237,731 (GRCm39) missense possibly damaging 0.53
R5398:Spink12 UTSW 18 44,240,794 (GRCm39) missense possibly damaging 0.46
R7620:Spink12 UTSW 18 44,237,684 (GRCm39) start gained probably benign
Z1192:Spink12 UTSW 18 44,237,775 (GRCm39) missense probably benign
Posted On 2015-04-16