Incidental Mutation 'IGL01408:Spink2'
ID 79895
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spink2
Ensembl Gene ENSMUSG00000053030
Gene Name serine peptidase inhibitor, Kazal type 2
Synonyms acrosin-trypsin inhibitor, HUSI-II, 1700007F22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01408
Quality Score
Status
Chromosome 5
Chromosomal Location 77352954-77359318 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 77359174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065216] [ENSMUST00000120429] [ENSMUST00000121825]
AlphaFold Q8BMY7
Predicted Effect probably benign
Transcript: ENSMUST00000065216
SMART Domains Protein: ENSMUSP00000067117
Gene: ENSMUSG00000053030

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
KAZAL 37 86 1.95e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120429
SMART Domains Protein: ENSMUSP00000112806
Gene: ENSMUSG00000053030

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121825
SMART Domains Protein: ENSMUSP00000113823
Gene: ENSMUSG00000053030

DomainStartEndE-ValueType
KAZAL 10 59 1.95e-16 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit reduced male fertility associated with oligozoospermia, teratozoospermia, male germ cell apoptosis, and small testis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530068E07Rik A G 11: 52,294,193 (GRCm39) R145G probably damaging Het
Akr1c21 T A 13: 4,627,431 (GRCm39) M175K probably benign Het
Apol7a C T 15: 77,273,530 (GRCm39) A311T probably damaging Het
Atxn10 G T 15: 85,260,896 (GRCm39) E214* probably null Het
Bmp2k C T 5: 97,234,823 (GRCm39) Q749* probably null Het
Ccdc141 G A 2: 76,876,023 (GRCm39) A669V probably benign Het
Cndp2 A C 18: 84,689,036 (GRCm39) C249G probably benign Het
Cnr1 A G 4: 33,944,802 (GRCm39) I397V possibly damaging Het
Col19a1 T C 1: 24,345,331 (GRCm39) probably benign Het
Dbn1 T C 13: 55,630,117 (GRCm39) probably benign Het
Dmgdh C T 13: 93,845,803 (GRCm39) P486S probably damaging Het
Dpys A G 15: 39,656,702 (GRCm39) V455A possibly damaging Het
Farp2 A G 1: 93,546,702 (GRCm39) N907S probably benign Het
Fndc3c1 C T X: 105,476,378 (GRCm39) E894K probably benign Het
Gm6685 A T 11: 28,289,473 (GRCm39) N114K probably damaging Het
Golga3 A T 5: 110,365,675 (GRCm39) probably null Het
Grin2c A G 11: 115,151,708 (GRCm39) L84P probably damaging Het
Gucy2c A G 6: 136,675,009 (GRCm39) F1001L probably benign Het
Hcn4 A G 9: 58,767,169 (GRCm39) H910R unknown Het
Kdm4b T C 17: 56,660,518 (GRCm39) probably benign Het
Lrrfip2 A G 9: 111,043,284 (GRCm39) T497A probably benign Het
Man2c1 A G 9: 57,048,884 (GRCm39) Y924C probably damaging Het
Nkain2 T A 10: 32,278,237 (GRCm39) T63S probably damaging Het
Nlrp1a T A 11: 71,013,742 (GRCm39) T503S probably benign Het
Or52n3 T C 7: 104,530,037 (GRCm39) V41A probably benign Het
Or52n4 T A 7: 104,294,136 (GRCm39) I146F possibly damaging Het
Pitrm1 T A 13: 6,623,078 (GRCm39) C780S probably damaging Het
Plekha5 C T 6: 140,516,042 (GRCm39) probably benign Het
Rapgef4 C T 2: 72,005,185 (GRCm39) R193* probably null Het
Rbm20 A G 19: 53,840,044 (GRCm39) E1011G possibly damaging Het
Rfx3 A T 19: 27,746,050 (GRCm39) D685E probably benign Het
Ror1 T C 4: 100,190,984 (GRCm39) S114P probably damaging Het
Slc17a6 A G 7: 51,318,863 (GRCm39) K502E probably benign Het
Sptb A T 12: 76,659,921 (GRCm39) I993N possibly damaging Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Tes A T 6: 17,099,878 (GRCm39) Y291F probably damaging Het
Tmtc4 G T 14: 123,163,366 (GRCm39) probably benign Het
Trpa1 T C 1: 14,959,637 (GRCm39) E683G probably benign Het
Vmn2r73 T C 7: 85,521,455 (GRCm39) D171G probably benign Het
Wbp11 A G 6: 136,791,612 (GRCm39) probably benign Het
Wfdc12 A G 2: 164,031,581 (GRCm39) *86R probably null Het
Zfp281 T C 1: 136,553,853 (GRCm39) V277A probably damaging Het
Other mutations in Spink2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1542:Spink2 UTSW 5 77,354,812 (GRCm39) missense probably damaging 1.00
R1664:Spink2 UTSW 5 77,354,855 (GRCm39) missense probably damaging 1.00
R4833:Spink2 UTSW 5 77,353,239 (GRCm39) missense possibly damaging 0.69
R5392:Spink2 UTSW 5 77,354,872 (GRCm39) missense probably benign 0.16
R8266:Spink2 UTSW 5 77,359,213 (GRCm39) missense unknown
R8862:Spink2 UTSW 5 77,357,615 (GRCm39) missense probably benign 0.01
Posted On 2013-11-05