Incidental Mutation 'IGL01325:Serpinb7'
ID 74232
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb7
Ensembl Gene ENSMUSG00000067001
Gene Name serine (or cysteine) peptidase inhibitor, clade B, member 7
Synonyms 4631416M05Rik, megsin, ovalbumin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL01325
Quality Score
Status
Chromosome 1
Chromosomal Location 107350418-107380419 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 107363110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 91 (H91Q)
Ref Sequence ENSEMBL: ENSMUSP00000119217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086690] [ENSMUST00000154538]
AlphaFold Q9D695
Predicted Effect probably damaging
Transcript: ENSMUST00000086690
AA Change: H91Q

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000083896
Gene: ENSMUSG00000067001
AA Change: H91Q

DomainStartEndE-ValueType
SERPIN 13 380 2.7e-121 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000154538
AA Change: H91Q

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119217
Gene: ENSMUSG00000067001
AA Change: H91Q

DomainStartEndE-ValueType
Pfam:Serpin 6 97 4.9e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158653
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T C 13: 61,001,347 (GRCm39) T127A probably damaging Het
Acrv1 T A 9: 36,609,810 (GRCm39) M227K probably benign Het
Adam22 T C 5: 8,177,333 (GRCm39) N592S probably benign Het
Adamts15 T A 9: 30,832,984 (GRCm39) I184F possibly damaging Het
Adcy1 T C 11: 7,014,102 (GRCm39) V168A possibly damaging Het
Arl6ip5 T C 6: 97,209,501 (GRCm39) F179L probably benign Het
Asxl2 G T 12: 3,477,172 (GRCm39) R6L probably damaging Het
Btaf1 T A 19: 36,982,049 (GRCm39) probably benign Het
Ccdc136 T C 6: 29,412,949 (GRCm39) F445L probably benign Het
Cpne3 T C 4: 19,535,229 (GRCm39) S268G probably benign Het
Crtc3 C T 7: 80,327,116 (GRCm39) R70Q probably damaging Het
Fam169a C A 13: 97,259,207 (GRCm39) A421E probably benign Het
Fhod1 A T 8: 106,058,281 (GRCm39) M825K probably benign Het
Gjb2 T C 14: 57,337,678 (GRCm39) T177A probably benign Het
Gm6576 A G 15: 27,025,970 (GRCm39) noncoding transcript Het
Herpud2 A G 9: 25,025,207 (GRCm39) V175A probably benign Het
Hmgxb3 T C 18: 61,267,078 (GRCm39) D1052G probably damaging Het
Itpr1 T A 6: 108,358,169 (GRCm39) F578L probably benign Het
Kdm7a T G 6: 39,135,243 (GRCm39) probably benign Het
Krt76 A T 15: 101,793,323 (GRCm39) S572T unknown Het
Lrrcc1 T C 3: 14,601,601 (GRCm39) probably null Het
Marchf9 A C 10: 126,893,459 (GRCm39) V183G probably damaging Het
Mrtfb T C 16: 13,219,088 (GRCm39) V578A probably damaging Het
Ndufaf6 A T 4: 11,070,251 (GRCm39) D123E probably benign Het
Nhlh2 T G 3: 101,920,342 (GRCm39) Y125D probably damaging Het
Nol4l A G 2: 153,278,271 (GRCm39) probably benign Het
Npas1 C T 7: 16,197,247 (GRCm39) G206D probably benign Het
Or52h9 T C 7: 104,202,896 (GRCm39) F257L probably damaging Het
Or5ak24 C A 2: 85,260,639 (GRCm39) C178F possibly damaging Het
Pcdhb4 T A 18: 37,442,676 (GRCm39) V662E probably damaging Het
Plxna3 G A X: 73,379,400 (GRCm39) G758S probably damaging Het
Prdm15 T A 16: 97,607,717 (GRCm39) N709Y probably damaging Het
Pygo2 C T 3: 89,339,753 (GRCm39) probably benign Het
Ranbp2 T A 10: 58,312,120 (GRCm39) S947T probably damaging Het
Rasgrp1 T A 2: 117,129,010 (GRCm39) H203L probably damaging Het
Rbbp6 G A 7: 122,587,841 (GRCm39) G270R probably damaging Het
Rcl1 A G 19: 29,098,662 (GRCm39) probably null Het
Rpl23a-ps1 T C 1: 46,020,793 (GRCm39) noncoding transcript Het
Shd C T 17: 56,279,839 (GRCm39) P111S possibly damaging Het
Slc35e1 G T 8: 73,237,602 (GRCm39) probably benign Het
Srgap3 C T 6: 112,752,647 (GRCm39) R279H probably damaging Het
Sstr4 G A 2: 148,237,472 (GRCm39) E28K probably benign Het
Stip1 T C 19: 6,998,464 (GRCm39) probably benign Het
Syne2 A G 12: 75,973,288 (GRCm39) E1097G probably benign Het
Tbcd T A 11: 121,431,819 (GRCm39) V489E probably damaging Het
Tnks2 T A 19: 36,849,033 (GRCm39) S516R probably benign Het
Trmt44 T A 5: 35,726,147 (GRCm39) R343S possibly damaging Het
Trps1 A G 15: 50,710,210 (GRCm39) S47P probably benign Het
Ubr3 A C 2: 69,747,441 (GRCm39) K235Q possibly damaging Het
Uckl1 G A 2: 181,216,754 (GRCm39) Q48* probably null Het
Vat1 T C 11: 101,356,541 (GRCm39) D140G probably benign Het
Vmn2r80 A G 10: 79,030,081 (GRCm39) T636A possibly damaging Het
Zfp423 A T 8: 88,508,239 (GRCm39) probably null Het
Zfp667 C A 7: 6,293,545 (GRCm39) T15N probably damaging Het
Other mutations in Serpinb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Serpinb7 APN 1 107,355,976 (GRCm39) utr 5 prime probably benign
IGL01595:Serpinb7 APN 1 107,356,052 (GRCm39) missense probably damaging 0.97
IGL01925:Serpinb7 APN 1 107,379,399 (GRCm39) missense probably benign 0.01
IGL02008:Serpinb7 APN 1 107,375,859 (GRCm39) missense possibly damaging 0.51
IGL02206:Serpinb7 APN 1 107,363,102 (GRCm39) missense possibly damaging 0.88
IGL02870:Serpinb7 APN 1 107,378,017 (GRCm39) missense probably damaging 1.00
IGL03010:Serpinb7 APN 1 107,379,741 (GRCm39) utr 3 prime probably benign
R0455:Serpinb7 UTSW 1 107,379,340 (GRCm39) missense possibly damaging 0.91
R0492:Serpinb7 UTSW 1 107,379,737 (GRCm39) makesense probably null
R0664:Serpinb7 UTSW 1 107,356,037 (GRCm39) missense probably damaging 0.98
R1495:Serpinb7 UTSW 1 107,379,390 (GRCm39) nonsense probably null
R1540:Serpinb7 UTSW 1 107,355,998 (GRCm39) missense possibly damaging 0.72
R1789:Serpinb7 UTSW 1 107,378,003 (GRCm39) missense possibly damaging 0.58
R1850:Serpinb7 UTSW 1 107,356,025 (GRCm39) missense probably damaging 1.00
R2962:Serpinb7 UTSW 1 107,379,456 (GRCm39) missense probably benign 0.00
R3151:Serpinb7 UTSW 1 107,363,081 (GRCm39) nonsense probably null
R3439:Serpinb7 UTSW 1 107,356,081 (GRCm39) missense probably damaging 1.00
R4064:Serpinb7 UTSW 1 107,373,766 (GRCm39) missense probably benign 0.09
R4590:Serpinb7 UTSW 1 107,379,563 (GRCm39) missense probably damaging 1.00
R5260:Serpinb7 UTSW 1 107,362,479 (GRCm39) missense possibly damaging 0.74
R5637:Serpinb7 UTSW 1 107,356,037 (GRCm39) missense probably damaging 1.00
R5914:Serpinb7 UTSW 1 107,379,580 (GRCm39) missense probably damaging 1.00
R5992:Serpinb7 UTSW 1 107,373,726 (GRCm39) missense probably damaging 1.00
R6013:Serpinb7 UTSW 1 107,377,919 (GRCm39) missense probably benign
R6317:Serpinb7 UTSW 1 107,379,436 (GRCm39) missense probably damaging 1.00
R6494:Serpinb7 UTSW 1 107,363,076 (GRCm39) nonsense probably null
R7181:Serpinb7 UTSW 1 107,378,052 (GRCm39) missense probably benign 0.01
R8011:Serpinb7 UTSW 1 107,362,487 (GRCm39) missense possibly damaging 0.87
R8226:Serpinb7 UTSW 1 107,375,980 (GRCm39) splice site probably null
R9097:Serpinb7 UTSW 1 107,377,907 (GRCm39) missense probably damaging 0.99
Posted On 2013-10-07