Incidental Mutation 'IGL02578:Serpinb12'
ID299284
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb12
Ensembl Gene ENSMUSG00000059956
Gene Nameserine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 12
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02578
Quality Score
Status
Chromosome1
Chromosomal Location106934449-106957080 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 106955490 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081277] [ENSMUST00000112724]
Predicted Effect probably null
Transcript: ENSMUST00000081277
SMART Domains Protein: ENSMUSP00000080030
Gene: ENSMUSG00000059956

DomainStartEndE-ValueType
SERPIN 13 423 5.88e-154 SMART
Predicted Effect probably null
Transcript: ENSMUST00000112724
SMART Domains Protein: ENSMUSP00000108344
Gene: ENSMUSG00000059956

DomainStartEndE-ValueType
SERPIN 13 423 5.88e-154 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 G A 7: 120,423,956 probably null Het
Ago1 T A 4: 126,439,531 D545V probably benign Het
Arid2 T C 15: 96,372,235 S1410P probably benign Het
Cbfa2t3 T A 8: 122,633,448 D488V possibly damaging Het
Cdx2 T C 5: 147,303,284 D194G probably damaging Het
Cyp4a32 A G 4: 115,609,742 Q208R possibly damaging Het
Degs1 A C 1: 182,279,027 Y222* probably null Het
Dnah7a T A 1: 53,432,915 E3564D probably benign Het
Dsg4 A T 18: 20,471,193 I906F possibly damaging Het
Elovl3 A G 19: 46,134,693 H236R possibly damaging Het
Fam159a C T 4: 108,368,028 M112I probably benign Het
Foxp2 A G 6: 15,376,815 probably benign Het
Gm9892 A T 8: 52,196,293 noncoding transcript Het
Herc2 A G 7: 56,106,535 probably null Het
Hhat A G 1: 192,693,913 V304A probably damaging Het
Il16 C T 7: 83,677,986 probably null Het
Kansl1l G A 1: 66,801,689 Q151* probably null Het
Kmt2c G T 5: 25,366,200 probably benign Het
Krt39 T C 11: 99,521,206 N18S probably benign Het
Lcor G T 19: 41,559,150 G391V probably damaging Het
Mical2 A T 7: 112,351,373 T845S probably benign Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Mphosph8 C T 14: 56,674,210 A230V probably benign Het
Myh2 T A 11: 67,186,691 M884K probably benign Het
Nlrp3 T C 11: 59,548,401 L268P probably damaging Het
Ntng1 T A 3: 110,135,394 T39S probably benign Het
Olfr1043 A T 2: 86,162,729 Y73* probably null Het
Olfr1124 T A 2: 87,435,057 I190K probably damaging Het
Olfr342 A C 2: 36,528,144 H244P probably damaging Het
Pde4b T A 4: 102,255,297 M26K possibly damaging Het
Polh G A 17: 46,194,292 Q133* probably null Het
Postn A T 3: 54,377,204 N647I possibly damaging Het
Scimp T A 11: 70,791,561 I110F possibly damaging Het
Sell A G 1: 164,065,596 D127G probably damaging Het
She A G 3: 89,832,066 E188G probably damaging Het
Slc22a1 T C 17: 12,667,239 Y169C probably damaging Het
Slco2a1 C T 9: 103,046,758 T57I probably damaging Het
Sox2 A T 3: 34,650,596 M61L probably benign Het
Sra1 G A 18: 36,670,097 Q32* probably null Het
Syne2 T A 12: 76,022,279 S4340T possibly damaging Het
Ucn A C 5: 31,138,394 W43G possibly damaging Het
Xdh C T 17: 73,906,246 M836I probably damaging Het
Xirp2 T A 2: 67,511,247 D1277E probably damaging Het
Other mutations in Serpinb12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01859:Serpinb12 APN 1 106953834 critical splice donor site probably null
R0380:Serpinb12 UTSW 1 106950821 critical splice donor site probably null
R0525:Serpinb12 UTSW 1 106946702 missense probably benign 0.00
R1720:Serpinb12 UTSW 1 106946614 missense probably damaging 1.00
R4600:Serpinb12 UTSW 1 106949153 missense probably benign 0.00
R4601:Serpinb12 UTSW 1 106949153 missense probably benign 0.00
R4602:Serpinb12 UTSW 1 106949153 missense probably benign 0.00
R4610:Serpinb12 UTSW 1 106949153 missense probably benign 0.00
R4611:Serpinb12 UTSW 1 106949153 missense probably benign 0.00
R4852:Serpinb12 UTSW 1 106956402 missense probably benign 0.02
R5327:Serpinb12 UTSW 1 106956444 missense probably damaging 0.99
R5495:Serpinb12 UTSW 1 106956421 missense probably damaging 0.98
R5601:Serpinb12 UTSW 1 106953697 missense probably damaging 1.00
R5681:Serpinb12 UTSW 1 106946701 missense probably benign 0.00
R6329:Serpinb12 UTSW 1 106953763 missense probably damaging 1.00
R6723:Serpinb12 UTSW 1 106949158 missense probably benign
R7514:Serpinb12 UTSW 1 106950804 missense probably damaging 0.97
R7559:Serpinb12 UTSW 1 106953723 missense probably damaging 0.97
R7751:Serpinb12 UTSW 1 106949671 missense probably damaging 1.00
Posted On2015-04-16