Incidental Mutation 'IGL02379:Spink12'
ID291312
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 #IGL02379
Quality Score
Status
Chromosome18
Chromosomal Location44104407-44108543 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 44106508 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000080025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081271]
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: 121,622,043 I996F probably damaging Het
Adamts9 T A 6: 92,797,033 D1133V probably damaging Het
Adi1 T A 12: 28,679,467 D106E probably damaging Het
Agl A G 3: 116,779,091 F837S probably damaging Het
Alb T A 5: 90,465,879 D207E probably benign Het
Alms1 T G 6: 85,629,633 V2286G probably damaging Het
Alpl G A 4: 137,742,558 A485V probably damaging Het
Antxrl C A 14: 34,056,535 probably null Het
Apc C T 18: 34,298,745 T417I probably benign Het
Ash2l T C 8: 25,822,771 D390G probably damaging Het
Asph G A 4: 9,474,980 P582S probably damaging Het
Bcr T A 10: 75,157,148 L825Q probably benign Het
Bhlha15 T A 5: 144,191,341 N90K probably damaging Het
Cgnl1 T A 9: 71,645,553 Y1043F possibly damaging Het
Chek1 T C 9: 36,723,946 D47G probably benign Het
Clca4b T A 3: 144,921,858 M451L probably benign Het
Csnk1g3 T C 18: 53,933,492 S346P probably benign Het
Cspg4 G T 9: 56,892,609 probably benign Het
Ctr9 A G 7: 111,051,519 K884E probably damaging Het
Cyld T A 8: 88,744,928 C813* probably null Het
Fn3k A T 11: 121,435,124 T46S probably benign Het
Foxred1 T C 9: 35,209,986 R89G probably benign Het
Gpr174 T C X: 107,293,478 F299L probably damaging Het
Hdac7 T C 15: 97,808,385 D312G probably damaging Het
Il1f8 A G 2: 24,154,638 S17G probably benign Het
Kcna5 G T 6: 126,534,509 P219T probably damaging Het
Kcnh2 A C 5: 24,326,638 V425G probably damaging Het
Klk5 A G 7: 43,850,822 N278S probably damaging Het
Mars2 T A 1: 55,238,053 W272R probably damaging Het
Msl3l2 C A 10: 56,115,921 S247R possibly damaging Het
Myh7 T C 14: 54,979,468 E1144G probably damaging Het
Nefm T C 14: 68,120,239 probably benign Het
Nwd2 A G 5: 63,805,301 K743E probably damaging Het
Nyap2 C T 1: 81,087,430 T53I probably damaging Het
Olfr1124 T C 2: 87,435,324 V279A probably benign Het
Olfr617 T C 7: 103,584,892 V290A possibly damaging Het
Peli2 A G 14: 48,168,298 H60R probably damaging Het
Pias2 T A 18: 77,145,148 probably benign Het
Pik3c2b A G 1: 133,094,791 D1157G probably damaging Het
Pip4k2a C T 2: 18,866,111 probably null Het
Raf1 A T 6: 115,644,548 D23E probably benign Het
Rhox10 G A X: 38,066,856 R87H probably benign Het
Rpgrip1 A G 14: 52,138,888 T449A possibly damaging Het
Serpina3a T A 12: 104,118,660 S105T probably benign Het
Slc12a9 T G 5: 137,321,429 Q608P probably damaging Het
Smg6 C A 11: 75,053,925 P167T probably damaging Het
Spata7 C T 12: 98,634,260 T44I probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stag2 C T X: 42,250,597 T754I probably benign Het
Supt6 C T 11: 78,225,369 V723M possibly damaging Het
Ttc25 A T 11: 100,566,983 N471Y possibly damaging Het
Ubr3 A G 2: 69,948,488 D614G possibly damaging Het
Vps39 T A 2: 120,323,608 K624N probably benign Het
Vwa5b1 A T 4: 138,612,859 L29Q probably damaging Het
Wtap G A 17: 12,969,449 A188V probably benign Het
Zc3hc1 A G 6: 30,390,975 F5L probably benign Het
Zfp655 C T 5: 145,243,955 P208S probably benign Het
Zswim3 A T 2: 164,820,682 probably null 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
IGL02702:Spink12 APN 18 44104769 missense probably benign 0.00
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