Incidental Mutation 'R4814:Serpinb5'
ID 369615
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 042432-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.845) question?
Stock # R4814 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 106788905-106811078 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 106800069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 86 (L86F)
Ref Sequence ENSEMBL: ENSMUSP00000108350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086701] [ENSMUST00000112729] [ENSMUST00000112730] [ENSMUST00000188745]
AlphaFold P70124
Predicted Effect probably damaging
Transcript: ENSMUST00000086701
AA Change: L86F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083908
Gene: ENSMUSG00000067006
AA Change: L86F

DomainStartEndE-ValueType
SERPIN 13 375 9.76e-160 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112729
AA Change: L86F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108349
Gene: ENSMUSG00000067006
AA Change: L86F

DomainStartEndE-ValueType
SERPIN 13 375 9.76e-160 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112730
AA Change: L86F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108350
Gene: ENSMUSG00000067006
AA Change: L86F

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (79/79)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T G 16: 56,471,116 (GRCm39) V587G probably benign Het
Abtb2 A G 2: 103,547,632 (GRCm39) D1002G probably benign Het
Acap2 A G 16: 30,926,944 (GRCm39) S524P probably benign Het
Acsm1 A T 7: 119,254,687 (GRCm39) I385L probably benign Het
Adra1a C G 14: 66,875,481 (GRCm39) A152G probably benign Het
Agbl4 A T 4: 111,513,565 (GRCm39) Y437F possibly damaging Het
Amt A G 9: 108,176,979 (GRCm39) T196A probably benign Het
Apobr G A 7: 126,185,859 (GRCm39) V457M probably benign Het
Birc6 A G 17: 74,956,667 (GRCm39) K3563E probably damaging Het
Cdadc1 AGACGGA AGA 14: 59,806,440 (GRCm39) probably null Het
Chrna9 T C 5: 66,134,492 (GRCm39) W448R probably damaging Het
Cyp4a31 A T 4: 115,427,466 (GRCm39) D224V probably damaging Het
Ddx10 C A 9: 53,115,405 (GRCm39) R643L possibly damaging Het
Dip2c A G 13: 9,586,896 (GRCm39) H200R probably benign Het
Dnah8 A T 17: 30,986,898 (GRCm39) R3182S probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Egfr T C 11: 16,819,354 (GRCm39) C295R probably damaging Het
Garem1 A T 18: 21,281,173 (GRCm39) N394K probably damaging Het
Gcat T C 15: 78,915,322 (GRCm39) probably null Het
Gckr C T 5: 31,455,644 (GRCm39) Q66* probably null Het
Gm26996 A T 6: 130,556,317 (GRCm39) noncoding transcript Het
Gm9386 C A 17: 81,246,141 (GRCm39) noncoding transcript Het
Gpr6 A T 10: 40,947,258 (GRCm39) M108K possibly damaging Het
H2-Q10 A C 17: 35,784,481 (GRCm39) probably benign Het
Hpf1 A G 8: 61,346,841 (GRCm39) D52G probably damaging Het
Jak2 A G 19: 29,279,377 (GRCm39) R989G probably damaging Het
Kat7 A G 11: 95,193,949 (GRCm39) probably benign Het
Kcnn3 G T 3: 89,570,031 (GRCm39) V615F probably damaging Het
Lgi1 G T 19: 38,289,326 (GRCm39) probably null Het
Lrrtm4 A T 6: 80,000,117 (GRCm39) T510S possibly damaging Het
Map7d1 A G 4: 126,128,114 (GRCm39) probably null Het
Mapt T C 11: 104,189,786 (GRCm39) V252A probably benign Het
Mbd4 A T 6: 115,826,260 (GRCm39) S223T possibly damaging Het
Meig1 T A 2: 3,412,959 (GRCm39) I21L probably benign Het
Mia3 A G 1: 183,113,684 (GRCm39) Y447H probably damaging Het
Mrpl46 A C 7: 78,430,343 (GRCm39) N142K probably benign Het
Myo18a C A 11: 77,750,062 (GRCm39) probably benign Het
Nup188 A G 2: 30,216,523 (GRCm39) T776A possibly damaging Het
Oas1h C A 5: 121,000,728 (GRCm39) H113N probably damaging Het
Or6c202 T A 10: 128,996,245 (GRCm39) T203S possibly damaging Het
Or7g18 A G 9: 18,787,213 (GRCm39) I197V probably benign Het
Or7g27 C T 9: 19,250,476 (GRCm39) T240M probably damaging Het
Or9i1b A T 19: 13,896,817 (GRCm39) L144F possibly damaging Het
Orc3 T A 4: 34,572,450 (GRCm39) probably benign Het
Osbpl3 T A 6: 50,329,980 (GRCm39) L65F probably damaging Het
Papola C A 12: 105,765,912 (GRCm39) P4Q probably damaging Het
Pepd A G 7: 34,645,022 (GRCm39) N151S probably damaging Het
Plekhm2 A G 4: 141,355,150 (GRCm39) L959P probably benign Het
Prpf40a A T 2: 53,080,032 (GRCm39) H82Q probably damaging Het
Robo1 C T 16: 72,768,923 (GRCm39) T496M probably benign Het
Samd9l T G 6: 3,372,863 (GRCm39) Q1466P probably damaging Het
Serpina1a T C 12: 103,821,022 (GRCm39) T342A probably benign Het
Serpina3i A G 12: 104,231,470 (GRCm39) T36A probably benign Het
Slc35g1 A G 19: 38,391,275 (GRCm39) S186G possibly damaging Het
Slco6d1 T A 1: 98,350,899 (GRCm39) D126E probably benign Het
Smchd1 A G 17: 71,718,763 (GRCm39) probably null Het
Smpdl3a C A 10: 57,687,337 (GRCm39) T355K probably damaging Het
Sntg2 A G 12: 30,423,267 (GRCm39) probably benign Het
Sox14 T A 9: 99,757,284 (GRCm39) M152L probably benign Het
Spats2l G T 1: 57,977,085 (GRCm39) A308S possibly damaging Het
Tcf12 T C 9: 71,777,323 (GRCm39) probably benign Het
Tcf7l2 T A 19: 55,912,504 (GRCm39) C478* probably null Het
Tekt5 A G 16: 10,200,771 (GRCm39) L250P probably damaging Het
Tmem132d T G 5: 128,061,328 (GRCm39) I425L probably benign Het
Tmem174 T A 13: 98,773,456 (GRCm39) I125F probably damaging Het
Trafd1 T G 5: 121,512,079 (GRCm39) I404L probably benign Het
Trpm5 G A 7: 142,636,373 (GRCm39) P500S possibly damaging Het
Trpm6 T A 19: 18,839,576 (GRCm39) N1616K probably benign Het
Vmn1r4 A G 6: 56,933,715 (GRCm39) D73G possibly damaging Het
Vmn2r85 T A 10: 130,254,567 (GRCm39) I706F probably benign Het
Zc3h14 C G 12: 98,719,107 (GRCm39) D157E probably damaging Het
Zfp982 A G 4: 147,597,090 (GRCm39) Q149R possibly damaging 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
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
R6222:Serpinb5 UTSW 1 106,798,070 (GRCm39) missense probably benign 0.09
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'- CCAAGTACTGTGTCTCTGGGAC -3'
(R):5'- TGCTGAAAGGGGACACATTTC -3'

Sequencing Primer
(F):5'- GTCTCTGGGACAATGTTTTGC -3'
(R):5'- AGCAGAAGTGACTGTTGTTTCAC -3'
Posted On 2016-02-04