Incidental Mutation 'R2190:Spint1'
ID 238004
Institutional Source Beutler Lab
Gene Symbol Spint1
Ensembl Gene ENSMUSG00000027315
Gene Name serine protease inhibitor, Kunitz type 1
Synonyms HAI-1
MMRRC Submission 040192-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2190 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 119067841-119079995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119068661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 132 (I132V)
Ref Sequence ENSEMBL: ENSMUSP00000106441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028783] [ENSMUST00000110816] [ENSMUST00000110817]
AlphaFold Q9R097
Predicted Effect probably benign
Transcript: ENSMUST00000028783
AA Change: I132V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000028783
Gene: ENSMUSG00000027315
AA Change: I132V

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
MANEC 39 134 1.18e-39 SMART
Blast:PKD 162 237 6e-19 BLAST
KU 242 295 3.75e-19 SMART
LDLa 312 349 2.12e-8 SMART
KU 367 420 8.04e-19 SMART
transmembrane domain 444 466 N/A INTRINSIC
low complexity region 474 492 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110816
AA Change: I132V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000106440
Gene: ENSMUSG00000027315
AA Change: I132V

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
MANEC 39 134 1.18e-39 SMART
Blast:PKD 162 237 6e-19 BLAST
KU 242 295 3.75e-19 SMART
LDLa 312 349 2.12e-8 SMART
KU 367 420 8.04e-19 SMART
transmembrane domain 444 466 N/A INTRINSIC
low complexity region 474 492 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110817
AA Change: I132V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000106441
Gene: ENSMUSG00000027315
AA Change: I132V

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
MANEC 39 134 1.18e-39 SMART
Blast:PKD 162 237 6e-19 BLAST
KU 242 295 3.75e-19 SMART
LDLa 312 349 2.12e-8 SMART
KU 367 420 8.04e-19 SMART
transmembrane domain 444 466 N/A INTRINSIC
low complexity region 474 492 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Kunitz family of serine protease inhibitors. The protein is a potent inhibitor specific for HGF activator and is thought to be involved in the regulation of the proteolytic activation of HGF in injured tissues. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit embryonic lethality at E10.5 or earlier, growth retardation, and widespread cell apoptosis. Placental development is impaired with abnormalities in branching morphogenesis, the formation of the labyrinth layer and placental function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A T 8: 111,766,785 (GRCm39) T56S probably damaging Het
Acbd6 A T 1: 155,500,652 (GRCm39) H204L probably damaging Het
Acnat2 T A 4: 49,383,551 (GRCm39) M1L probably benign Het
Adgrg5 A T 8: 95,660,579 (GRCm39) I73F probably damaging Het
Ankrd52 A G 10: 128,219,487 (GRCm39) T474A probably benign Het
Arid3a A G 10: 79,782,365 (GRCm39) D252G possibly damaging Het
Aspg G T 12: 112,091,322 (GRCm39) E501D probably damaging Het
Bicral A G 17: 47,136,049 (GRCm39) I387T probably damaging Het
Bub1 T C 2: 127,652,645 (GRCm39) N574S probably benign Het
Casr G A 16: 36,315,778 (GRCm39) T764M probably damaging Het
Ccdc60 A G 5: 116,295,639 (GRCm39) S259P probably damaging Het
Ccne2 A T 4: 11,197,241 (GRCm39) N181I probably benign Het
Chd4 A G 6: 125,091,260 (GRCm39) D89G probably benign Het
Col25a1 C T 3: 130,378,364 (GRCm39) P606S probably damaging Het
Dcc A G 18: 71,680,491 (GRCm39) S582P possibly damaging Het
Dlg4 A G 11: 69,933,430 (GRCm39) D619G probably damaging Het
Elavl2 C T 4: 91,152,331 (GRCm39) V129I probably benign Het
Epha3 A G 16: 63,366,552 (GRCm39) I965T probably benign Het
Fbxw16 G A 9: 109,265,739 (GRCm39) S360L probably damaging Het
Fgf14 T C 14: 124,221,330 (GRCm39) Y158C probably damaging Het
Gm44511 A G 6: 128,803,163 (GRCm39) I16T possibly damaging Het
Has2 C A 15: 56,531,183 (GRCm39) V511F probably benign Het
Heatr5b G A 17: 79,109,185 (GRCm39) R1025C probably damaging Het
Hsd17b12 T C 2: 93,864,408 (GRCm39) Y233C probably benign Het
Il36rn A T 2: 24,170,831 (GRCm39) I43F probably damaging Het
Inpp5b T A 4: 124,678,988 (GRCm39) I465N probably damaging Het
Irak2 T A 6: 113,663,904 (GRCm39) N423K probably damaging Het
Itga2 C A 13: 115,007,141 (GRCm39) V396L probably benign Het
Itprid1 A G 6: 55,874,685 (GRCm39) T212A possibly damaging Het
Lipo2 A T 19: 33,725,969 (GRCm39) N94K probably damaging Het
Lrrc37a T C 11: 103,390,869 (GRCm39) T1519A possibly damaging Het
Macf1 A G 4: 123,353,005 (GRCm39) V1558A probably benign Het
Mocos C A 18: 24,797,114 (GRCm39) H91Q probably benign Het
Myh14 G A 7: 44,310,487 (GRCm39) T132I probably damaging Het
Nlrp2 A T 7: 5,322,237 (GRCm39) D803E possibly damaging Het
Ntsr2 T A 12: 16,704,018 (GRCm39) I173N probably damaging Het
Or14c43 A G 7: 86,115,573 (GRCm39) Y318C possibly damaging Het
Or5b105 T G 19: 13,079,857 (GRCm39) K270N probably damaging Het
Pitx3 T C 19: 46,125,486 (GRCm39) Y86C probably damaging Het
Pkp1 T C 1: 135,807,709 (GRCm39) S520G probably benign Het
Pygo1 C T 9: 72,852,529 (GRCm39) Q239* probably null Het
Rab13 A G 3: 90,130,851 (GRCm39) E68G probably damaging Het
Rfx7 A G 9: 72,525,201 (GRCm39) E797G probably benign Het
Slc5a1 T C 5: 33,261,937 (GRCm39) probably null Het
Slco1c1 A G 6: 141,508,893 (GRCm39) T518A probably benign Het
Stard9 T A 2: 120,544,601 (GRCm39) I4514N probably benign Het
Tenm3 T G 8: 48,848,579 (GRCm39) S87R probably damaging Het
Thap4 G T 1: 93,678,381 (GRCm39) P135Q probably damaging Het
Tmed9 A G 13: 55,741,156 (GRCm39) E57G probably benign Het
Tnrc18 C T 5: 142,761,644 (GRCm39) V594I unknown Het
Trmt1 A T 8: 85,416,470 (GRCm39) K64* probably null Het
Usf2 A G 7: 30,654,606 (GRCm39) V198A probably damaging Het
Usp14 A T 18: 10,007,835 (GRCm39) C168S probably damaging Het
Vav3 C A 3: 109,470,130 (GRCm39) T525K probably damaging Het
Vmn1r52 A G 6: 90,156,151 (GRCm39) I152V probably benign Het
Vmn2r81 A G 10: 79,104,085 (GRCm39) D236G possibly damaging Het
Wdr19 G A 5: 65,401,509 (GRCm39) V975I possibly damaging Het
Other mutations in Spint1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01351:Spint1 APN 2 119,076,936 (GRCm39) missense probably damaging 1.00
IGL02065:Spint1 APN 2 119,068,698 (GRCm39) missense probably benign 0.02
R0206:Spint1 UTSW 2 119,078,826 (GRCm39) splice site probably benign
R0208:Spint1 UTSW 2 119,078,826 (GRCm39) splice site probably benign
R0415:Spint1 UTSW 2 119,076,096 (GRCm39) missense probably damaging 1.00
R0691:Spint1 UTSW 2 119,076,948 (GRCm39) missense probably damaging 1.00
R1236:Spint1 UTSW 2 119,076,054 (GRCm39) missense probably benign 0.05
R3890:Spint1 UTSW 2 119,079,283 (GRCm39) missense probably benign 0.28
R4599:Spint1 UTSW 2 119,076,941 (GRCm39) missense probably damaging 1.00
R6280:Spint1 UTSW 2 119,075,759 (GRCm39) missense possibly damaging 0.89
R8739:Spint1 UTSW 2 119,079,286 (GRCm39) missense possibly damaging 0.82
R9735:Spint1 UTSW 2 119,076,897 (GRCm39) missense probably damaging 1.00
S24628:Spint1 UTSW 2 119,076,096 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTTGAGCCGCTTTACCAG -3'
(R):5'- TGCCTACTTCAAAGGGAGTCG -3'

Sequencing Primer
(F):5'- GAAGCCTCAGTCAGCAACGG -3'
(R):5'- AGTCGATGGAAGGGCTCTC -3'
Posted On 2014-10-02