Incidental Mutation 'IGL01408:Spink2'
ID79895
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spink2
Ensembl Gene ENSMUSG00000053030
Gene Nameserine peptidase inhibitor, Kazal type 2
Synonymsacrosin-trypsin inhibitor, HUSI-II, 1700007F22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.121) question?
Stock #IGL01408
Quality Score
Status
Chromosome5
Chromosomal Location77205107-77211471 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 77211327 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065216] [ENSMUST00000120429] [ENSMUST00000121825]
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: 52,403,366 R145G probably damaging Het
Akr1c21 T A 13: 4,577,432 M175K probably benign Het
Apol7a C T 15: 77,389,330 A311T probably damaging Het
Atxn10 G T 15: 85,376,695 E214* probably null Het
Bmp2k C T 5: 97,086,964 Q749* probably null Het
Ccdc141 G A 2: 77,045,679 A669V probably benign Het
Cndp2 A C 18: 84,670,911 C249G probably benign Het
Cnr1 A G 4: 33,944,802 I397V possibly damaging Het
Col19a1 T C 1: 24,306,250 probably benign Het
Dbn1 T C 13: 55,482,304 probably benign Het
Dmgdh C T 13: 93,709,295 P486S probably damaging Het
Dpys A G 15: 39,793,306 V455A possibly damaging Het
Farp2 A G 1: 93,618,980 N907S probably benign Het
Fndc3c1 C T X: 106,432,772 E894K probably benign Het
Gm6685 A T 11: 28,339,473 N114K probably damaging Het
Golga3 A T 5: 110,217,809 probably null Het
Grin2c A G 11: 115,260,882 L84P probably damaging Het
Gucy2c A G 6: 136,698,011 F1001L probably benign Het
Hcn4 A G 9: 58,859,886 H910R unknown Het
Kdm4b T C 17: 56,353,518 probably benign Het
Lrrfip2 A G 9: 111,214,216 T497A probably benign Het
Man2c1 A G 9: 57,141,600 Y924C probably damaging Het
Nkain2 T A 10: 32,402,241 T63S probably damaging Het
Nlrp1a T A 11: 71,122,916 T503S probably benign Het
Olfr658 T A 7: 104,644,929 I146F possibly damaging Het
Olfr665 T C 7: 104,880,830 V41A probably benign Het
Pitrm1 T A 13: 6,573,042 C780S probably damaging Het
Plekha5 C T 6: 140,570,316 probably benign Het
Rapgef4 C T 2: 72,174,841 R193* probably null Het
Rbm20 A G 19: 53,851,613 E1011G possibly damaging Het
Rfx3 A T 19: 27,768,650 D685E probably benign Het
Ror1 T C 4: 100,333,787 S114P probably damaging Het
Slc17a6 A G 7: 51,669,115 K502E probably benign Het
Sptb A T 12: 76,613,147 I993N possibly damaging Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Tes A T 6: 17,099,879 Y291F probably damaging Het
Tmtc4 G T 14: 122,925,954 probably benign Het
Trpa1 T C 1: 14,889,413 E683G probably benign Het
Vmn2r73 T C 7: 85,872,247 D171G probably benign Het
Wbp11 A G 6: 136,814,614 probably benign Het
Wfdc12 A G 2: 164,189,661 *86R probably null Het
Zfp281 T C 1: 136,626,115 V277A probably damaging Het
Other mutations in Spink2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1542:Spink2 UTSW 5 77206965 missense probably damaging 1.00
R1664:Spink2 UTSW 5 77207008 missense probably damaging 1.00
R4833:Spink2 UTSW 5 77205392 missense possibly damaging 0.69
R5392:Spink2 UTSW 5 77207025 missense probably benign 0.16
R8266:Spink2 UTSW 5 77211366 missense unknown
Posted On2013-11-05