Incidental Mutation 'R5992:Serpinb7'
ID 480858
Institutional Source Beutler Lab
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 # R5992 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 107350418-107380419 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107373726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 114 (Y114C)
Ref Sequence ENSEMBL: ENSMUSP00000083896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086690]
AlphaFold Q9D695
Predicted Effect probably damaging
Transcript: ENSMUST00000086690
AA Change: Y114C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083896
Gene: ENSMUSG00000067001
AA Change: Y114C

DomainStartEndE-ValueType
SERPIN 13 380 2.7e-121 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.9%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T A 17: 45,819,549 (GRCm39) L188* probably null Het
Acod1 C T 14: 103,292,471 (GRCm39) R332C probably damaging Het
Adamts3 T A 5: 89,839,194 (GRCm39) K852M probably damaging Het
Adm A T 7: 110,226,903 (GRCm39) probably benign Het
Aff4 A G 11: 53,263,837 (GRCm39) S286G probably damaging Het
Ank2 A G 3: 126,753,300 (GRCm39) probably null Het
Aqr A T 2: 113,973,530 (GRCm39) Y427* probably null Het
Arid1b C A 17: 5,045,231 (GRCm39) probably benign Het
Arpp21 T A 9: 111,972,553 (GRCm39) R259* probably null Het
Cep290 C T 10: 100,379,183 (GRCm39) A55V possibly damaging Het
Chsy3 GT G 18: 59,309,238 (GRCm39) 163 probably null Het
Clcn2 T C 16: 20,532,404 (GRCm39) E68G possibly damaging Het
Corin T A 5: 72,473,732 (GRCm39) H699L probably benign Het
Cyld T C 8: 89,459,681 (GRCm39) Y446H probably damaging Het
Dcst1 T A 3: 89,259,883 (GRCm39) E613V probably damaging Het
Dlk1 T C 12: 109,421,507 (GRCm39) C74R probably damaging Het
Dnah12 A C 14: 26,418,496 (GRCm39) K128T probably benign Het
Dspp T A 5: 104,326,317 (GRCm39) S893R unknown Het
Dtl A T 1: 191,300,684 (GRCm39) probably null Het
F2rl1 T A 13: 95,650,778 (GRCm39) S35C probably benign Het
Fcgbp A T 7: 27,819,959 (GRCm39) Y2562F probably benign Het
Fgf10 A T 13: 118,852,044 (GRCm39) D42V probably benign Het
Gm10271 A T 10: 116,808,497 (GRCm39) F6L probably damaging Het
Gm21190 T A 5: 15,729,849 (GRCm39) E256D probably damaging Het
Gm5157 A G 7: 20,919,346 (GRCm39) S66P probably damaging Het
Hal T G 10: 93,326,778 (GRCm39) L138R probably damaging Het
Hsd17b3 T C 13: 64,207,284 (GRCm39) probably null Het
Lrrc37 A T 11: 103,504,618 (GRCm39) M2450K possibly damaging Het
Lrsam1 T C 2: 32,845,234 (GRCm39) T94A probably benign Het
Macc1 T C 12: 119,411,320 (GRCm39) V696A probably damaging Het
Magi2 G A 5: 19,432,289 (GRCm39) M1I probably null Het
Marchf7 C A 2: 60,075,564 (GRCm39) N674K probably benign Het
Mfap1b A G 2: 121,300,776 (GRCm39) V34A probably benign Het
Mob3b G A 4: 35,084,069 (GRCm39) S40L probably benign Het
Ndufs2 A T 1: 171,063,987 (GRCm39) V386E probably damaging Het
Nfic C T 10: 81,256,581 (GRCm39) A19T probably damaging Het
Nfs1 G A 2: 155,976,373 (GRCm39) R174W probably damaging Het
Nin G T 12: 70,092,298 (GRCm39) S670R possibly damaging Het
Nrxn1 T C 17: 90,930,935 (GRCm39) I754V probably benign Het
Nwd1 T C 8: 73,380,201 (GRCm39) probably null Het
Or4a39 T A 2: 89,237,223 (GRCm39) M67L probably benign Het
Or4c1 T A 2: 89,133,703 (GRCm39) T78S possibly damaging Het
Or51a6 G T 7: 102,604,216 (GRCm39) N197K probably benign Het
Pcdhgb8 A G 18: 37,896,502 (GRCm39) E524G probably damaging Het
Phlpp1 A T 1: 106,246,723 (GRCm39) R638* probably null Het
Pkmyt1 G C 17: 23,954,300 (GRCm39) W360S probably benign Het
Plxnd1 C A 6: 115,944,748 (GRCm39) probably null Het
Poldip3 A T 15: 83,013,430 (GRCm39) N322K probably damaging Het
Prmt3 A T 7: 49,478,695 (GRCm39) I419L probably benign Het
Prss36 A T 7: 127,544,002 (GRCm39) V123E probably damaging Het
Prss58 A G 6: 40,874,703 (GRCm39) I46T probably damaging Het
Rac1 T C 5: 143,492,753 (GRCm39) probably benign Het
Rb1cc1 A G 1: 6,304,220 (GRCm39) Y36C probably damaging Het
Rif1 C G 2: 51,985,856 (GRCm39) L614V probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rp1 A T 1: 4,218,926 (GRCm39) F951L unknown Het
Rps6ka5 G T 12: 100,541,509 (GRCm39) P417T possibly damaging Het
Ryr1 A G 7: 28,767,062 (GRCm39) W2967R probably damaging Het
Sacs T A 14: 61,442,992 (GRCm39) S1679R probably damaging Het
Scn1a A C 2: 66,165,800 (GRCm39) W153G probably damaging Het
Son T C 16: 91,455,792 (GRCm39) M1513T probably benign Het
Spag8 C T 4: 43,651,534 (GRCm39) V447M probably benign Het
St3gal2 T A 8: 111,696,185 (GRCm39) Y257N probably damaging Het
Tars1 A T 15: 11,397,282 (GRCm39) D40E probably damaging Het
Tlr3 T C 8: 45,850,851 (GRCm39) H158R probably benign Het
Tppp2 G T 14: 52,156,392 (GRCm39) V50L probably benign Het
Trrap T C 5: 144,746,994 (GRCm39) S1503P probably benign Het
Ttll4 T G 1: 74,724,550 (GRCm39) S573R probably damaging Het
Vmn2r104 A T 17: 20,249,747 (GRCm39) N841K probably damaging Het
Vmn2r3 A T 3: 64,167,068 (GRCm39) C688S probably damaging Het
Vps16 T C 2: 130,266,369 (GRCm39) probably null Het
Zfp608 G A 18: 55,032,320 (GRCm39) T540I probably benign Het
Zfp775 G A 6: 48,596,750 (GRCm39) R208Q probably damaging Het
Other mutations in Serpinb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Serpinb7 APN 1 107,355,976 (GRCm39) utr 5 prime probably benign
IGL01325:Serpinb7 APN 1 107,363,110 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- TGAAGCTGAGGTAGTGAACTTTAG -3'
(R):5'- CTTTCCATGTTTCAAGTAACCTGAC -3'

Sequencing Primer
(F):5'- GTAGTGAACTTTAGCCAGCAGCC -3'
(R):5'- CACTTGCCATGTGTCTCA -3'
Posted On 2017-06-26