Incidental Mutation 'R3890:Spint1'
ID 310320
Institutional Source Beutler Lab
Gene Symbol Spint1
Ensembl Gene ENSMUSG00000027315
Gene Name serine protease inhibitor, Kunitz type 1
Synonyms HAI-1
MMRRC Submission 040802-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3890 (G1)
Quality Score 186
Status Validated
Chromosome 2
Chromosomal Location 119067841-119079995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119079283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 455 (I455T)
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: I455T

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028783
Gene: ENSMUSG00000027315
AA Change: I455T

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: I455T

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000106440
Gene: ENSMUSG00000027315
AA Change: I455T

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: I455T

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000106441
Gene: ENSMUSG00000027315
AA Change: I455T

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 noncoding transcript
Transcript: ENSMUST00000134872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139903
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 98% (60/61)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik T C 8: 13,604,700 (GRCm39) Y201C probably damaging Het
Adam10 A G 9: 70,676,136 (GRCm39) T624A probably benign Het
Atf2 T C 2: 73,693,557 (GRCm39) S2G probably damaging Het
Atf7ip T C 6: 136,564,043 (GRCm39) V762A possibly damaging Het
Cacna1e C T 1: 154,359,299 (GRCm39) R265Q probably damaging Het
Cckbr A C 7: 105,075,376 (GRCm39) T49P probably benign Het
Clip2 T C 5: 134,551,847 (GRCm39) K92E probably damaging Het
Clrn3 T C 7: 135,120,194 (GRCm39) T131A possibly damaging Het
Cntrl T G 2: 35,060,492 (GRCm39) C1342G probably benign Het
Def8 T C 8: 124,185,083 (GRCm39) probably benign Het
Dennd4a T C 9: 64,779,310 (GRCm39) S598P probably damaging Het
Deup1 A G 9: 15,511,009 (GRCm39) Y257H probably damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Ect2 T C 3: 27,192,689 (GRCm39) D387G probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fmo4 A T 1: 162,621,624 (GRCm39) I529N probably benign Het
Frs3 A G 17: 48,014,360 (GRCm39) D351G probably damaging Het
Gcat T A 15: 78,921,376 (GRCm39) V378D probably damaging Het
Hmcn1 A T 1: 150,510,946 (GRCm39) D3592E probably damaging Het
Hspa4l A T 3: 40,736,026 (GRCm39) Q570L possibly damaging Het
Ifi213 A G 1: 173,394,822 (GRCm39) I571T probably benign Het
Lsamp T C 16: 39,805,054 (GRCm39) V11A probably benign Het
Mettl1 T C 10: 126,880,998 (GRCm39) probably null Het
Mettl15 A G 2: 109,021,924 (GRCm39) I127T probably benign Het
Mipep T C 14: 61,046,444 (GRCm39) L322P probably damaging Het
Mob1b T A 5: 88,901,061 (GRCm39) I156K probably damaging Het
Mobp G A 9: 119,997,022 (GRCm39) C51Y probably damaging Het
Ms4a3 T C 19: 11,610,271 (GRCm39) N97S probably benign Het
Myrip A G 9: 120,251,324 (GRCm39) E210G probably damaging Het
Nos1ap T C 1: 170,177,025 (GRCm39) Y126C probably damaging Het
Nuak2 G T 1: 132,259,223 (GRCm39) A342S possibly damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or10ah1-ps1 G T 5: 143,123,152 (GRCm39) S290R probably benign Het
Or2aj5 A G 16: 19,425,205 (GRCm39) I71T probably damaging Het
Or7e165 T G 9: 19,695,011 (GRCm39) I194S probably benign Het
Pdgfra A G 5: 75,328,588 (GRCm39) N240S probably null Het
Pdxdc1 T C 16: 13,654,312 (GRCm39) T759A probably benign Het
Pex2 C T 3: 5,626,008 (GRCm39) C267Y probably damaging Het
Pgghg T C 7: 140,525,616 (GRCm39) I473T probably damaging Het
Prdm15 T C 16: 97,600,771 (GRCm39) H829R probably damaging Het
Pum1 T C 4: 130,491,393 (GRCm39) L774P probably damaging Het
Rcbtb1 T A 14: 59,465,804 (GRCm39) H382Q possibly damaging Het
Rprd2 A T 3: 95,672,536 (GRCm39) F956I probably damaging Het
Samd1 G A 8: 84,724,361 (GRCm39) probably benign Het
Slc4a11 A T 2: 130,527,705 (GRCm39) S592T probably damaging Het
Slc5a4b A G 10: 75,898,094 (GRCm39) V540A probably benign Het
Slfn8 G A 11: 82,895,270 (GRCm39) T512I possibly damaging Het
Slx4 A T 16: 3,797,773 (GRCm39) I1537N probably damaging Het
Sorl1 G A 9: 41,915,401 (GRCm39) T1276M probably damaging Het
Specc1 C T 11: 62,042,739 (GRCm39) T872M probably benign Het
Speer4f1 T C 5: 17,684,500 (GRCm39) I176T probably damaging Het
Srp54a A G 12: 55,135,978 (GRCm39) probably null Het
Stoml3 T A 3: 53,414,875 (GRCm39) N222K probably damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tanc2 A T 11: 105,689,504 (GRCm39) D222V probably damaging Het
Tasor2 T C 13: 3,646,785 (GRCm39) E80G probably damaging Het
Thsd7a G A 6: 12,418,336 (GRCm39) S631L probably benign Het
Vmn2r73 G A 7: 85,507,144 (GRCm39) H723Y probably benign Het
Wdfy4 T C 14: 32,769,237 (GRCm39) E2076G probably 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
R2190:Spint1 UTSW 2 119,068,661 (GRCm39) missense probably benign 0.01
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'- AAGCAGCTATTCTGAAGGTCTGAG -3'
(R):5'- CTAGCTTCTGTCTTGGCAAGC -3'

Sequencing Primer
(F):5'- CAGCTATTCTGAAGGTCTGAGATGAG -3'
(R):5'- CTTCTGTCTTGGCAAGCAGGAC -3'
Posted On 2015-04-17