Incidental Mutation 'R1419:Spint5'
ID 159979
Institutional Source Beutler Lab
Gene Symbol Spint5
Ensembl Gene ENSMUSG00000074593
Gene Name serine protease inhibitor, Kunitz type 5
Synonyms
MMRRC Submission 039475-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R1419 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 164715305-164718068 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 164715411 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 23 (S23P)
Ref Sequence ENSEMBL: ENSMUSP00000135911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103097] [ENSMUST00000180193]
AlphaFold J3KMK8
Predicted Effect possibly damaging
Transcript: ENSMUST00000103097
AA Change: S23P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099386
Gene: ENSMUSG00000074593
AA Change: S23P

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
KU 47 100 1.27e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000180193
AA Change: S23P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135911
Gene: ENSMUSG00000074593
AA Change: S23P

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
KU 47 100 9.75e-18 SMART
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T A 7: 120,374,902 M894K probably benign Het
Ablim1 C A 19: 57,134,633 C173F probably damaging Het
Abtb2 G T 2: 103,709,420 R710L probably benign Het
AI481877 T C 4: 59,064,457 T826A possibly damaging Het
Arap3 T C 18: 37,978,432 T1144A possibly damaging Het
Arhgef12 A T 9: 43,027,220 V92D probably damaging Het
Ash1l T G 3: 88,984,897 M1361R probably damaging Het
Atm A C 9: 53,457,489 N2337K probably benign Het
Cog7 T C 7: 121,955,992 E316G probably damaging Het
Dsp A G 13: 38,186,695 Y858C probably damaging Het
Enc1 G T 13: 97,246,184 G401C probably damaging Het
Gata6 T C 18: 11,064,706 V506A probably benign Het
Gm16380 C T 9: 53,884,187 noncoding transcript Het
H2-Ke6 G A 17: 34,027,643 R89C probably benign Het
Hsh2d G A 8: 72,200,460 D229N probably benign Het
Ift80 T A 3: 68,940,198 N322Y probably damaging Het
Igsf9 T A 1: 172,498,011 V1082E probably damaging Het
Katnal2 A T 18: 76,977,432 L481Q possibly damaging Het
Kcnma1 T C 14: 23,367,642 T713A probably damaging Het
Kif13a T C 13: 46,825,235 T230A probably damaging Het
Klhl14 C A 18: 21,652,193 R59L probably damaging Het
Mecom A G 3: 29,980,889 C213R probably damaging Het
Mrpl13 T A 15: 55,534,321 M178L probably benign Het
Myof T C 19: 37,901,911 E1971G probably damaging Het
Naa10 A G X: 73,917,916 V133A probably damaging Het
Nlrp4g G A 9: 124,349,434 noncoding transcript Het
Ofcc1 C T 13: 40,208,829 G206R probably benign Het
Olfr1042 A G 2: 86,159,429 *314Q probably null Het
Olfr1234 T C 2: 89,363,322 T36A probably damaging Het
Olfr1297 A T 2: 111,621,295 F260I probably benign Het
Oplah T C 15: 76,297,920 I1047V probably benign Het
Paip1 A G 13: 119,457,017 D189G probably damaging Het
Pkn1 A G 8: 83,673,522 F624L probably damaging Het
Plxnb1 C A 9: 109,114,386 P1899H probably damaging Het
Rpa3 T A 6: 8,257,720 E47D probably benign Het
Snai2 C T 16: 14,708,180 H232Y possibly damaging Het
St8sia2 G A 7: 73,966,994 Q78* probably null Het
Tktl2 A G 8: 66,513,038 N416S probably damaging Het
Tm7sf3 T A 6: 146,603,977 I494F possibly damaging Het
Trf C T 9: 103,226,108 V119M probably damaging Het
Other mutations in Spint5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0100:Spint5 UTSW 2 164717000 missense probably damaging 1.00
R1991:Spint5 UTSW 2 164716983 splice site probably benign
R6798:Spint5 UTSW 2 164717140 nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCTCAGAGAACCTGAAGCTCCTCC -3'
(R):5'- TGGCCGTGAACCTTCTAAATCCAAG -3'

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