Incidental Mutation 'IGL00971:Serpinb7'
ID26748
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb7
Ensembl Gene ENSMUSG00000067001
Gene Nameserine (or cysteine) peptidase inhibitor, clade B, member 7
Synonymsmegsin, 4631416M05Rik, ovalbumin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL00971
Quality Score
Status
Chromosome1
Chromosomal Location107399655-107452689 bp(+) (GRCm38)
Type of Mutationutr 5 prime
DNA Base Change (assembly) A to G at 107428246 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086690] [ENSMUST00000154538]
Predicted Effect probably benign
Transcript: ENSMUST00000086690
SMART Domains Protein: ENSMUSP00000083896
Gene: ENSMUSG00000067001

DomainStartEndE-ValueType
SERPIN 13 380 2.7e-121 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154538
SMART Domains Protein: ENSMUSP00000119217
Gene: ENSMUSG00000067001

DomainStartEndE-ValueType
Pfam:Serpin 6 97 4.9e-20 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik C T 14: 35,810,213 C135Y possibly damaging Het
Afdn T A 17: 13,852,313 probably benign Het
Akap10 A G 11: 61,904,796 V347A possibly damaging Het
Ankrd11 A G 8: 122,895,353 S587P probably damaging Het
Ces1g T C 8: 93,303,032 Y524C probably damaging Het
Cubn T C 2: 13,278,408 N3573S possibly damaging Het
Cyp1a1 G T 9: 57,700,707 C206F probably damaging Het
Fam166b A G 4: 43,428,377 L51P probably damaging Het
Fbxo30 T C 10: 11,290,298 Y255H probably benign Het
Ggnbp2 T C 11: 84,840,404 I295V possibly damaging Het
Gm8979 G A 7: 106,081,801 noncoding transcript Het
Gpatch8 A G 11: 102,479,917 Y932H unknown Het
Heatr6 C T 11: 83,759,309 P197L probably damaging Het
Helb T C 10: 120,094,263 D737G possibly damaging Het
Helz A T 11: 107,663,653 I1226F possibly damaging Het
Ipo11 A T 13: 106,856,769 I749N probably damaging Het
Ipo13 T C 4: 117,914,367 E2G possibly damaging Het
Jam3 A C 9: 27,101,892 D127E probably damaging Het
Kif16b G T 2: 142,711,744 Q1045K probably benign Het
Kin T C 2: 10,090,348 W121R possibly damaging Het
Man1b1 T G 2: 25,343,325 S237A possibly damaging Het
Mmel1 C T 4: 154,887,832 probably benign Het
Morn4 T C 19: 42,076,120 N143S possibly damaging Het
Nlrp4b A G 7: 10,714,955 T362A possibly damaging Het
Ntpcr C T 8: 125,747,762 T153M probably damaging Het
Olfr62 T A 4: 118,666,278 F254I probably damaging Het
Pdzd2 A G 15: 12,374,718 L1777P probably benign Het
Postn A G 3: 54,369,276 N192S possibly damaging Het
Prkar1a A T 11: 109,661,051 Y122F probably benign Het
Setd3 A T 12: 108,160,237 I121N probably damaging Het
Slamf7 T A 1: 171,639,242 I132L probably benign Het
Syt4 T C 18: 31,447,174 probably benign Het
Tesc G A 5: 118,056,439 probably null Het
Tsc1 C A 2: 28,670,940 S270* probably null Het
Wap C A 11: 6,636,808 C97F probably damaging Het
Zfp451 A G 1: 33,783,153 S155P probably benign Het
Zfp469 A G 8: 122,269,733 probably benign Het
Zfp51 C T 17: 21,463,582 T153M probably benign Het
Zfp579 A G 7: 4,993,391 I507T probably damaging Het
Other mutations in Serpinb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Serpinb7 APN 1 107435380 missense probably damaging 0.98
IGL01595:Serpinb7 APN 1 107428322 missense probably damaging 0.97
IGL01925:Serpinb7 APN 1 107451669 missense probably benign 0.01
IGL02008:Serpinb7 APN 1 107448129 missense possibly damaging 0.51
IGL02206:Serpinb7 APN 1 107435372 missense possibly damaging 0.88
IGL02870:Serpinb7 APN 1 107450287 missense probably damaging 1.00
IGL03010:Serpinb7 APN 1 107452011 utr 3 prime probably benign
R0455:Serpinb7 UTSW 1 107451610 missense possibly damaging 0.91
R0492:Serpinb7 UTSW 1 107452007 makesense probably null
R0664:Serpinb7 UTSW 1 107428307 missense probably damaging 0.98
R1495:Serpinb7 UTSW 1 107451660 nonsense probably null
R1540:Serpinb7 UTSW 1 107428268 missense possibly damaging 0.72
R1789:Serpinb7 UTSW 1 107450273 missense possibly damaging 0.58
R1850:Serpinb7 UTSW 1 107428295 missense probably damaging 1.00
R2962:Serpinb7 UTSW 1 107451726 missense probably benign 0.00
R3151:Serpinb7 UTSW 1 107435351 nonsense probably null
R3439:Serpinb7 UTSW 1 107428351 missense probably damaging 1.00
R4064:Serpinb7 UTSW 1 107446036 missense probably benign 0.09
R4590:Serpinb7 UTSW 1 107451833 missense probably damaging 1.00
R5260:Serpinb7 UTSW 1 107434749 missense possibly damaging 0.74
R5637:Serpinb7 UTSW 1 107428307 missense probably damaging 1.00
R5914:Serpinb7 UTSW 1 107451850 missense probably damaging 1.00
R5992:Serpinb7 UTSW 1 107445996 missense probably damaging 1.00
R6013:Serpinb7 UTSW 1 107450189 missense probably benign
R6317:Serpinb7 UTSW 1 107451706 missense probably damaging 1.00
R6494:Serpinb7 UTSW 1 107435346 nonsense probably null
R7181:Serpinb7 UTSW 1 107450322 missense probably benign 0.01
Posted On2013-04-17