Incidental Mutation 'R8402:Serpind1'
ID 652248
Institutional Source Beutler Lab
Gene Symbol Serpind1
Ensembl Gene ENSMUSG00000022766
Gene Name serine (or cysteine) peptidase inhibitor, clade D, member 1
Synonyms HC II, heparin cofactor II, Hcf2, HCII
MMRRC Submission 067878-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R8402 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 17149235-17161438 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17154949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 259 (N259D)
Ref Sequence ENSEMBL: ENSMUSP00000023450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023450] [ENSMUST00000036161] [ENSMUST00000231884] [ENSMUST00000232232]
AlphaFold P49182
Predicted Effect probably benign
Transcript: ENSMUST00000023450
AA Change: N259D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023450
Gene: ENSMUSG00000022766
AA Change: N259D

signal peptide 1 23 N/A INTRINSIC
low complexity region 53 73 N/A INTRINSIC
SERPIN 114 475 9.76e-160 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000036161
SMART Domains Protein: ENSMUSP00000036162
Gene: ENSMUSG00000041720

low complexity region 198 221 N/A INTRINSIC
low complexity region 243 253 N/A INTRINSIC
SCOP:d1gw5a_ 268 675 2e-3 SMART
low complexity region 895 907 N/A INTRINSIC
PI3Ka 1483 1671 2.11e-54 SMART
Blast:PI3Kc 1688 1762 2e-39 BLAST
PI3Kc 1788 2041 4.04e-106 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000231884
AA Change: N259D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000232232
Predicted Effect probably benign
Transcript: ENSMUST00000232404
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (36/36)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the serpin gene superfamily. Serpins play roles in many processes including inflammation, blood clotting, and cancer metastasis. Members of this family have highly conserved secondary structures with a reactive center loop that interacts with the protease active site to inhibit protease activity. This gene encodes a plasma serine protease that functions as a thrombin and chymotrypsin inhibitor. The protein is activated by heparin, dermatan sulfate, and glycosaminoglycans. Allelic variations in this gene are associated with heparin cofactor II deficiency. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 A T 15: 11,263,376 (GRCm39) K579N probably damaging Het
Adcy7 T C 8: 89,035,363 (GRCm39) V89A probably benign Het
Anapc1 G A 2: 128,472,148 (GRCm39) S1458L probably benign Het
AW551984 T C 9: 39,508,949 (GRCm39) Y325C probably damaging Het
Btnl4 T C 17: 34,688,467 (GRCm39) Y437C probably damaging Het
Ccdc88a T A 11: 29,413,879 (GRCm39) S806T probably damaging Het
Clec2m T A 6: 129,300,007 (GRCm39) D157V possibly damaging Het
Ddit4l A G 3: 137,331,888 (GRCm39) T85A probably damaging Het
Dmxl1 G A 18: 50,011,393 (GRCm39) W1183* probably null Het
Dmxl1 G T 18: 50,011,409 (GRCm39) V1189L probably benign Het
Dmxl1 G C 18: 50,011,394 (GRCm39) D1184H probably benign Het
Evpl T C 11: 116,116,197 (GRCm39) D820G probably benign Het
Fam76b T C 9: 13,750,972 (GRCm39) S289P probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Gabrb2 T C 11: 42,378,131 (GRCm39) W116R probably damaging Het
Galnt7 G A 8: 57,995,953 (GRCm39) A355V probably damaging Het
Klk1b5 T G 7: 43,867,962 (GRCm39) F45V probably benign Het
Nav2 T C 7: 49,103,185 (GRCm39) V661A probably benign Het
Nfkbiz T C 16: 55,636,750 (GRCm39) N517S probably damaging Het
Or10ak16 A G 4: 118,750,716 (GRCm39) I145M probably benign Het
Or10d5 T A 9: 39,861,713 (GRCm39) Y118F probably benign Het
P2rx1 T C 11: 72,904,715 (GRCm39) F368L probably damaging Het
Palld A T 8: 62,164,440 (GRCm39) V417E probably damaging Het
Robo1 C A 16: 72,821,385 (GRCm39) A1375E probably benign Het
Rps24 G T 14: 24,540,829 (GRCm39) probably benign Het
Sh3bp4 C A 1: 89,073,037 (GRCm39) N628K probably benign Het
Tada3 A T 6: 113,351,774 (GRCm39) L177Q probably damaging Het
Tcam1 T A 11: 106,177,731 (GRCm39) L508Q probably damaging Het
Thbs1 T C 2: 117,946,359 (GRCm39) S360P possibly damaging Het
Tmem33 T C 5: 67,424,718 (GRCm39) probably benign Het
Vmn2r3 A G 3: 64,178,617 (GRCm39) probably benign Het
Vwa3b A G 1: 37,204,879 (GRCm39) E121G probably damaging Het
Zfp607b T A 7: 27,402,127 (GRCm39) H194Q probably damaging Het
Zfp729b G A 13: 67,740,696 (GRCm39) P523L probably damaging Het
Other mutations in Serpind1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01462:Serpind1 APN 16 17,154,787 (GRCm39) missense probably benign 0.00
R1433:Serpind1 UTSW 16 17,160,249 (GRCm39) missense probably damaging 1.00
R1839:Serpind1 UTSW 16 17,160,856 (GRCm39) missense probably damaging 1.00
R1991:Serpind1 UTSW 16 17,160,808 (GRCm39) missense probably benign 0.00
R2103:Serpind1 UTSW 16 17,160,808 (GRCm39) missense probably benign 0.00
R2937:Serpind1 UTSW 16 17,154,972 (GRCm39) missense probably benign 0.01
R4774:Serpind1 UTSW 16 17,154,272 (GRCm39) missense probably benign
R5233:Serpind1 UTSW 16 17,154,758 (GRCm39) missense probably damaging 1.00
R5493:Serpind1 UTSW 16 17,157,902 (GRCm39) missense probably damaging 1.00
R5713:Serpind1 UTSW 16 17,154,851 (GRCm39) missense probably damaging 1.00
R5720:Serpind1 UTSW 16 17,157,696 (GRCm39) missense probably benign 0.02
R7553:Serpind1 UTSW 16 17,154,539 (GRCm39) missense probably benign 0.00
R8311:Serpind1 UTSW 16 17,160,730 (GRCm39) missense possibly damaging 0.72
R8531:Serpind1 UTSW 16 17,160,847 (GRCm39) missense probably damaging 1.00
R9468:Serpind1 UTSW 16 17,154,179 (GRCm39) missense possibly damaging 0.81
R9539:Serpind1 UTSW 16 17,157,638 (GRCm39) nonsense probably null
R9648:Serpind1 UTSW 16 17,154,318 (GRCm39) missense probably benign 0.18
X0020:Serpind1 UTSW 16 17,154,584 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-10-20