Incidental Mutation 'R6222:Serpinb5'
ID 504061
Institutional Source Beutler Lab
Gene Symbol Serpinb5
Ensembl Gene ENSMUSG00000067006
Gene Name serine (or cysteine) peptidase inhibitor, clade B, member 5
Synonyms 1110036M19Rik, Maspin, ovalbumin, Spi7
MMRRC Submission 044353-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.845) question?
Stock # R6222 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 106788905-106811078 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106798070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 20 (C20S)
Ref Sequence ENSEMBL: ENSMUSP00000108350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086701] [ENSMUST00000112729] [ENSMUST00000112730] [ENSMUST00000188745]
AlphaFold P70124
Predicted Effect probably benign
Transcript: ENSMUST00000086701
AA Change: C20S

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000083908
Gene: ENSMUSG00000067006
AA Change: C20S

DomainStartEndE-ValueType
SERPIN 13 375 9.76e-160 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112729
AA Change: C20S

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000108349
Gene: ENSMUSG00000067006
AA Change: C20S

DomainStartEndE-ValueType
SERPIN 13 375 9.76e-160 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112730
AA Change: C20S

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000108350
Gene: ENSMUSG00000067006
AA Change: C20S

DomainStartEndE-ValueType
SERPIN 13 375 9.76e-160 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188745
SMART Domains Protein: ENSMUSP00000140264
Gene: ENSMUSG00000067006

DomainStartEndE-ValueType
Pfam:Serpin 1 74 1.6e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.6%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for one null allele displayed peri-implantation lethality with impaired endoderm development and attenuated inner cell mass growth. Mice homozygous for another null allele were viable and fertile with no gross abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik T C 14: 35,531,923 (GRCm39) *217W probably null Het
Abcc3 A G 11: 94,259,431 (GRCm39) F337L probably benign Het
Abcc4 T A 14: 118,767,368 (GRCm39) H903L probably damaging Het
Akap7 T A 10: 25,159,844 (GRCm39) K119* probably null Het
Als2 T C 1: 59,219,284 (GRCm39) D1222G probably benign Het
Ano4 T C 10: 88,863,084 (GRCm39) Y296C probably damaging Het
Arid1b A G 17: 5,377,922 (GRCm39) probably null Het
Arl10 T C 13: 54,726,644 (GRCm39) F141L probably damaging Het
B130006D01Rik T C 11: 95,616,988 (GRCm39) probably benign Het
Bbs9 T A 9: 22,479,147 (GRCm39) S197T possibly damaging Het
Bicd1 A T 6: 149,414,463 (GRCm39) D392V probably damaging Het
Bmi1 T A 2: 18,688,513 (GRCm39) M168K possibly damaging Het
C7 A T 15: 5,041,423 (GRCm39) D494E possibly damaging Het
Cacna1s A T 1: 136,032,360 (GRCm39) N1221I probably benign Het
Cacng7 A G 7: 3,385,128 (GRCm39) T10A probably damaging Het
Ccdc13 A G 9: 121,627,975 (GRCm39) probably benign Het
Cdpf1 T C 15: 85,691,643 (GRCm39) R108G possibly damaging Het
Ceacam5 A T 7: 17,479,472 (GRCm39) K196N probably benign Het
Cftr A C 6: 18,282,500 (GRCm39) T1067P probably benign Het
Cma2 T C 14: 56,210,649 (GRCm39) I112T possibly damaging Het
Cntnap4 A G 8: 113,569,353 (GRCm39) S916G probably damaging Het
Cwf19l2 T A 9: 3,454,569 (GRCm39) Y627* probably null Het
Fam204a A G 19: 60,188,400 (GRCm39) probably null Het
Galnt1 T A 18: 24,397,591 (GRCm39) probably null Het
Gbe1 T C 16: 70,325,900 (GRCm39) probably null Het
Gm6871 C T 7: 41,196,006 (GRCm39) D244N probably damaging Het
Gna15 T C 10: 81,347,880 (GRCm39) T189A probably damaging Het
Igsf10 C T 3: 59,226,336 (GRCm39) D2446N possibly damaging Het
Ing2 T C 8: 48,121,966 (GRCm39) K194R possibly damaging Het
Ino80d G A 1: 63,097,684 (GRCm39) H737Y probably damaging Het
Izumo4 C T 10: 80,538,885 (GRCm39) R83W probably damaging Het
Kcnt1 G A 2: 25,782,522 (GRCm39) V219M probably damaging Het
Kiz A T 2: 146,732,981 (GRCm39) S386C probably damaging Het
Ldlrap1 C T 4: 134,484,671 (GRCm39) E108K probably damaging Het
Nol11 G T 11: 107,062,442 (GRCm39) T598K possibly damaging Het
Or2ad1 T C 13: 21,327,047 (GRCm39) Y60C probably damaging Het
Or4c100 T C 2: 88,329,614 (GRCm39) Y62H probably benign Het
Pdzd2 T C 15: 12,374,652 (GRCm39) K1828E probably damaging Het
Prl3a1 T C 13: 27,460,097 (GRCm39) F194L probably benign Het
Prss1l A T 6: 41,374,100 (GRCm39) Y234F probably damaging Het
Reg1 A T 6: 78,404,357 (GRCm39) Q77L probably benign Het
Ruvbl2 G T 7: 45,074,149 (GRCm39) D248E probably damaging Het
Sart3 C T 5: 113,881,267 (GRCm39) A938T probably benign Het
Sh2d4b A C 14: 40,542,694 (GRCm39) S361A probably damaging Het
Snx2 T A 18: 53,332,896 (GRCm39) L190* probably null Het
Sorcs3 A T 19: 48,748,296 (GRCm39) Y755F possibly damaging Het
Styxl2 G T 1: 165,926,214 (GRCm39) Q1133K probably benign Het
Tiam2 A G 17: 3,503,613 (GRCm39) Q930R probably damaging Het
Tll1 C A 8: 64,551,568 (GRCm39) G271V probably benign Het
Tmem116 C T 5: 121,629,171 (GRCm39) T188M probably benign Het
Tmem181a T C 17: 6,351,192 (GRCm39) V367A probably benign Het
Umodl1 T C 17: 31,221,866 (GRCm39) probably null Het
Virma C T 4: 11,527,820 (GRCm39) A1187V probably damaging Het
Wdr53 T C 16: 32,075,482 (GRCm39) V229A probably benign Het
Zcchc10 T C 11: 53,223,289 (GRCm39) probably benign Het
Other mutations in Serpinb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02237:Serpinb5 APN 1 106,808,056 (GRCm39) missense probably benign 0.01
R1385:Serpinb5 UTSW 1 106,803,853 (GRCm39) missense probably damaging 1.00
R1480:Serpinb5 UTSW 1 106,809,437 (GRCm39) missense probably benign
R1497:Serpinb5 UTSW 1 106,803,782 (GRCm39) missense probably benign 0.08
R1503:Serpinb5 UTSW 1 106,798,019 (GRCm39) missense possibly damaging 0.76
R1933:Serpinb5 UTSW 1 106,803,851 (GRCm39) missense probably damaging 0.99
R2400:Serpinb5 UTSW 1 106,809,682 (GRCm39) missense probably damaging 0.98
R2567:Serpinb5 UTSW 1 106,802,876 (GRCm39) missense probably benign 0.33
R2923:Serpinb5 UTSW 1 106,803,770 (GRCm39) missense probably benign
R3148:Serpinb5 UTSW 1 106,809,555 (GRCm39) missense probably damaging 1.00
R3820:Serpinb5 UTSW 1 106,802,802 (GRCm39) nonsense probably null
R4667:Serpinb5 UTSW 1 106,800,025 (GRCm39) missense probably benign 0.00
R4814:Serpinb5 UTSW 1 106,800,069 (GRCm39) missense probably damaging 1.00
R4815:Serpinb5 UTSW 1 106,800,069 (GRCm39) missense probably damaging 1.00
R4816:Serpinb5 UTSW 1 106,800,069 (GRCm39) missense probably damaging 1.00
R4817:Serpinb5 UTSW 1 106,800,069 (GRCm39) missense probably damaging 1.00
R5369:Serpinb5 UTSW 1 106,809,487 (GRCm39) missense possibly damaging 0.85
R6108:Serpinb5 UTSW 1 106,809,458 (GRCm39) missense probably damaging 1.00
R6251:Serpinb5 UTSW 1 106,802,795 (GRCm39) missense possibly damaging 0.96
R6349:Serpinb5 UTSW 1 106,809,495 (GRCm39) missense probably benign 0.44
R6936:Serpinb5 UTSW 1 106,798,148 (GRCm39) missense probably benign 0.00
R6977:Serpinb5 UTSW 1 106,800,077 (GRCm39) missense probably benign 0.20
R7332:Serpinb5 UTSW 1 106,800,091 (GRCm39) missense probably benign 0.00
R7369:Serpinb5 UTSW 1 106,802,879 (GRCm39) missense probably benign 0.29
R7443:Serpinb5 UTSW 1 106,809,700 (GRCm39) missense probably benign 0.00
R7499:Serpinb5 UTSW 1 106,800,119 (GRCm39) critical splice donor site probably null
R7724:Serpinb5 UTSW 1 106,802,872 (GRCm39) missense probably damaging 0.98
R8425:Serpinb5 UTSW 1 106,809,515 (GRCm39) missense possibly damaging 0.86
R9125:Serpinb5 UTSW 1 106,798,137 (GRCm39) missense probably benign 0.19
R9208:Serpinb5 UTSW 1 106,803,853 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTCCAAAACCATTGCTTCACTG -3'
(R):5'- GCCCTGGAAATGGTAGTTCTC -3'

Sequencing Primer
(F):5'- CCAAAACCATTGCTTCACTGATGTAG -3'
(R):5'- CCTGGAAATGGTAGTTCTCAGTCC -3'
Posted On 2018-02-28