Incidental Mutation 'IGL02702:Spink12'
ID304160
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spink12
Ensembl Gene ENSMUSG00000061144
Gene Nameserine peptidase inhibitor, Kazal type 12
Synonyms9230117E20Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02702
Quality Score
Status
Chromosome18
Chromosomal Location44104407-44108543 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 44104769 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 38 (V38A)
Ref Sequence ENSEMBL: ENSMUSP00000080025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081271]
Predicted Effect probably benign
Transcript: ENSMUST00000081271
AA Change: V38A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000080025
Gene: ENSMUSG00000061144
AA Change: V38A

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 C T 6: 88,838,138 V337I probably benign Het
Adam11 G A 11: 102,777,038 V750I probably benign Het
Alms1 T C 6: 85,599,849 V129A probably benign Het
Cacna1d T A 14: 30,123,533 K560* probably null Het
Cntn1 A G 15: 92,291,601 probably benign Het
Cpne2 T C 8: 94,570,023 V530A probably benign Het
Fbxo21 T C 5: 118,000,510 L507P probably damaging Het
Fndc4 T C 5: 31,293,735 K204R probably damaging Het
Gnrhr G T 5: 86,182,269 N297K possibly damaging Het
Grin2b A G 6: 135,739,132 F729S probably damaging Het
Hdac3 C A 18: 37,941,094 R359L probably benign Het
Met T C 6: 17,534,143 S662P possibly damaging Het
Mphosph9 T A 5: 124,259,989 E1081D probably damaging Het
Mycbp2 T G 14: 103,220,124 T1546P probably benign Het
Nlrp9a T A 7: 26,564,956 M767K possibly damaging Het
Olfm5 A G 7: 104,154,357 Y300H probably damaging Het
Olfr911-ps1 T A 9: 38,524,560 V276D probably damaging Het
Pcf11 A T 7: 92,661,618 N178K possibly damaging Het
Polr3a T C 14: 24,470,877 I571M probably benign Het
Ppef2 T A 5: 92,231,819 R557W probably benign Het
Prelid3a T A 18: 67,473,794 D85E probably damaging Het
Rb1cc1 A G 1: 6,240,023 E215G probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Recql4 C T 15: 76,707,285 G501R probably damaging Het
Sema3e T C 5: 14,233,726 probably benign Het
Shisa6 A C 11: 66,219,962 L318V probably damaging Het
Slu7 T C 11: 43,438,892 probably benign Het
Syne2 A G 12: 76,097,924 D1549G probably damaging Het
Tet1 A G 10: 62,879,752 V88A possibly damaging Het
Tmem200a C T 10: 25,993,603 G256D probably damaging Het
Ttn G T 2: 76,884,491 probably benign Het
Ugt2b34 T C 5: 86,892,891 I391V probably benign Het
Zfp292 A T 4: 34,809,415 L1215I probably benign Het
Zfp410 C A 12: 84,325,776 N125K probably damaging Het
Other mutations in Spink12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00706:Spink12 APN 18 44107805 missense probably damaging 1.00
IGL00731:Spink12 APN 18 44108110 utr 3 prime probably benign
IGL01694:Spink12 APN 18 44107760 missense probably damaging 1.00
IGL02379:Spink12 APN 18 44106508 splice site probably benign
R0001:Spink12 UTSW 18 44107696 missense probably damaging 1.00
R0002:Spink12 UTSW 18 44107696 missense probably damaging 1.00
R0043:Spink12 UTSW 18 44107696 missense probably damaging 1.00
R0043:Spink12 UTSW 18 44107696 missense probably damaging 1.00
R0565:Spink12 UTSW 18 44104688 nonsense probably null
R0639:Spink12 UTSW 18 44107764 nonsense probably null
R1636:Spink12 UTSW 18 44107728 missense probably benign 0.10
R4073:Spink12 UTSW 18 44104664 missense possibly damaging 0.53
R5398:Spink12 UTSW 18 44107727 missense possibly damaging 0.46
R7620:Spink12 UTSW 18 44104617 start gained probably benign
Posted On2015-04-16