Incidental Mutation 'R1433:Serpind1'
ID 159342
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 039488-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R1433 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 17149235-17161438 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 17160249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 382 (Y382F)
Ref Sequence ENSEMBL: ENSMUSP00000156303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023450] [ENSMUST00000036161] [ENSMUST00000161034] [ENSMUST00000231884] [ENSMUST00000232232]
AlphaFold P49182
Predicted Effect probably damaging
Transcript: ENSMUST00000023450
AA Change: Y382F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023450
Gene: ENSMUSG00000022766
AA Change: Y382F

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000083397
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132300
Predicted Effect probably damaging
Transcript: ENSMUST00000161034
AA Change: Y382F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125507
Gene: ENSMUSG00000022766
AA Change: Y382F

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000231884
AA Change: Y382F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231961
Predicted Effect probably benign
Transcript: ENSMUST00000232404
Predicted Effect probably benign
Transcript: ENSMUST00000232232
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 87.9%
Validation Efficiency
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp1 C T 12: 30,945,934 (GRCm39) E140K possibly damaging Het
Acsm4 T A 7: 119,293,042 (GRCm39) D57E probably damaging Het
Adamts9 A G 6: 92,826,271 (GRCm39) probably null Het
Aen T A 7: 78,557,060 (GRCm39) Y303N probably damaging Het
Alcam T C 16: 52,116,115 (GRCm39) probably null Het
Apol7b A G 15: 77,309,746 (GRCm39) L17P probably damaging Het
Cacna1c A T 6: 118,629,754 (GRCm39) Y1058* probably null Het
Camk2d T C 3: 126,601,873 (GRCm39) V354A probably benign Het
Carf T G 1: 60,164,017 (GRCm39) M43R probably damaging Het
Casp8 T A 1: 58,863,283 (GRCm39) F81Y probably damaging Het
Cd74 G A 18: 60,937,064 (GRCm39) R20H probably benign Het
Cers5 A T 15: 99,643,812 (GRCm39) Y16* probably null Het
Chuk A T 19: 44,067,397 (GRCm39) M586K probably null Het
D130043K22Rik C A 13: 25,055,324 (GRCm39) P496Q probably damaging Het
Dab2 A G 15: 6,459,419 (GRCm39) R311G probably damaging Het
Depp1 A T 6: 116,629,223 (GRCm39) S189C possibly damaging Het
Diaph1 A T 18: 38,038,187 (GRCm39) I48N unknown Het
Dnajc13 T C 9: 104,057,320 (GRCm39) D1560G probably damaging Het
Dsg2 T C 18: 20,715,780 (GRCm39) S241P probably damaging Het
Efcab5 T C 11: 76,996,204 (GRCm39) D1119G probably benign Het
Efr3a G T 15: 65,740,906 (GRCm39) probably benign Het
Evc2 A G 5: 37,550,427 (GRCm39) K814E probably damaging Het
Hic2 A G 16: 17,076,686 (GRCm39) D505G probably benign Het
Ing1 T A 8: 11,607,010 (GRCm39) V34D probably damaging Het
Inpp5k A G 11: 75,528,317 (GRCm39) M172V probably benign Het
Itgae T C 11: 73,006,418 (GRCm39) V362A probably damaging Het
Lama2 T A 10: 27,063,750 (GRCm39) R1346S probably damaging Het
Lrrc7 T C 3: 157,882,943 (GRCm39) N450S probably damaging Het
Lrrn3 T A 12: 41,502,583 (GRCm39) Y578F possibly damaging Het
Maml2 A T 9: 13,617,797 (GRCm39) N381I probably damaging Het
Mettl15 T G 2: 108,923,266 (GRCm39) E385D probably benign Het
Mthfr T A 4: 148,139,900 (GRCm39) I623N possibly damaging Het
Muc4 A C 16: 32,574,448 (GRCm39) N966T probably benign Het
Myoc A G 1: 162,476,565 (GRCm39) Y423C probably damaging Het
Ncoa2 A T 1: 13,218,602 (GRCm39) M1409K probably benign Het
Ncor2 T C 5: 125,187,039 (GRCm39) probably benign Het
Numb T C 12: 83,844,033 (GRCm39) E395G probably damaging Het
Oas1g A G 5: 121,020,012 (GRCm39) F198S probably damaging Het
Or2b28 T C 13: 21,531,194 (GRCm39) V32A probably benign Het
Or5k17 A G 16: 58,746,049 (GRCm39) V295A probably benign Het
Prdm13 T A 4: 21,678,909 (GRCm39) Y527F probably damaging Het
Prr14l A G 5: 32,986,177 (GRCm39) L1106P probably damaging Het
Ptbp1 T A 10: 79,699,107 (GRCm39) I555N probably damaging Het
Ptchd4 A T 17: 42,814,606 (GRCm39) T836S possibly damaging Het
Rlbp1 T C 7: 79,033,686 (GRCm39) D3G probably benign Het
Sdk2 T C 11: 113,685,871 (GRCm39) E1883G probably damaging Het
Serpinc1 A T 1: 160,820,974 (GRCm39) K140N probably damaging Het
Slc28a3 T C 13: 58,710,920 (GRCm39) E534G probably damaging Het
Slco1a7 A G 6: 141,711,429 (GRCm39) M94T probably benign Het
Ttyh2 T A 11: 114,601,005 (GRCm39) I418N probably benign Het
Tubgcp4 C T 2: 121,005,905 (GRCm39) Q98* probably null Het
Ugt2a2 A G 5: 87,611,965 (GRCm39) L315P probably damaging Het
Vwa1 A T 4: 155,857,358 (GRCm39) S147T probably damaging Het
Xylt1 T C 7: 117,191,179 (GRCm39) V325A possibly damaging Het
Zfp335 T C 2: 164,741,376 (GRCm39) H685R probably damaging Het
Other mutations in Serpind1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01462:Serpind1 APN 16 17,154,787 (GRCm39) missense probably benign 0.00
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
R8402:Serpind1 UTSW 16 17,154,949 (GRCm39) missense probably benign
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
(F):5'- TCCTGTTTCCAGAGTGAGGAGAGTG -3'
(R):5'- CACCAGTGCAAGGCAAAGTGTG -3'

Sequencing Primer
(F):5'- CTAAGGGCTAACTGTAACTGGACTC -3'
(R):5'- AGGCAAAGTGTGGGGGC -3'
Posted On 2014-03-14