Incidental Mutation 'R2863:Spink14'
ID 253068
Institutional Source Beutler Lab
Gene Symbol Spink14
Ensembl Gene ENSMUSG00000051050
Gene Name serine peptidase inhibitor, Kazal type 14
Synonyms Gm5505
MMRRC Submission 040453-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2863 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 44160936-44165275 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44163948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 39 (C39S)
Ref Sequence ENSEMBL: ENSMUSP00000125319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060328] [ENSMUST00000162265]
AlphaFold B9EJP9
Predicted Effect probably damaging
Transcript: ENSMUST00000060328
AA Change: C39S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057781
Gene: ENSMUSG00000051050
AA Change: C39S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
KAZAL 38 96 1.98e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000162265
AA Change: C39S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125319
Gene: ENSMUSG00000051050
AA Change: C39S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
KAZAL 38 96 1.98e-8 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armh3 A T 19: 45,874,396 (GRCm39) N592K probably damaging Het
Bag5 T C 12: 111,677,029 (GRCm39) T265A probably benign Het
Bmper A G 9: 23,395,237 (GRCm39) N656S probably benign Het
Boc A G 16: 44,313,323 (GRCm39) S514P probably benign Het
Ddx6 G T 9: 44,525,553 (GRCm39) L103F probably damaging Het
Epb41l3 C T 17: 69,517,316 (GRCm39) P115S probably benign Het
Exoc6 T C 19: 37,641,861 (GRCm39) F709S probably benign Het
Fnip1 T C 11: 54,393,250 (GRCm39) I562T probably damaging Het
Fxr2 T A 11: 69,530,253 (GRCm39) I40N probably damaging Het
Ifna6 G C 4: 88,746,099 (GRCm39) R149S probably benign Het
Ifna6 C A 4: 88,746,086 (GRCm39) T145K probably benign Het
Ldb2 T C 5: 44,637,666 (GRCm39) Q214R probably damaging Het
Mus81 T G 19: 5,536,528 (GRCm39) Y146S probably damaging Het
Myh11 T C 16: 14,057,290 (GRCm39) I335V probably benign Het
Nid2 G A 14: 19,818,471 (GRCm39) E322K possibly damaging Het
Odad1 T C 7: 45,597,736 (GRCm39) S549P probably benign Het
Ofcc1 A T 13: 40,226,236 (GRCm39) S765R probably damaging Het
Ofcc1 T A 13: 40,241,414 (GRCm39) H698L possibly damaging Het
Or8b56 T A 9: 38,739,835 (GRCm39) F283I possibly damaging Het
Otog T G 7: 45,918,730 (GRCm39) C935W probably damaging Het
Pcdhga3 T C 18: 37,807,643 (GRCm39) V32A probably damaging Het
Phc3 C T 3: 30,968,277 (GRCm39) D920N probably damaging Het
Pou6f1 A G 15: 100,478,689 (GRCm39) probably null Het
Ppp4c A T 7: 126,391,272 (GRCm39) I20N probably damaging Het
Prkag2 T A 5: 25,226,790 (GRCm39) T156S probably benign Het
Psd T C 19: 46,303,201 (GRCm39) D95G probably damaging Het
Riox2 A G 16: 59,309,756 (GRCm39) D370G probably damaging Het
Tdrd9 T C 12: 111,997,695 (GRCm39) V728A probably benign Het
Tgm2 T C 2: 157,985,019 (GRCm39) E29G probably benign Het
Wdr35 T A 12: 9,078,060 (GRCm39) Y1139* probably null Het
Wdr95 T A 5: 149,505,321 (GRCm39) C367* probably null Het
Zfp35 T A 18: 24,137,352 (GRCm39) D565E probably damaging Het
Other mutations in Spink14
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0066:Spink14 UTSW 18 44,161,830 (GRCm39) missense probably benign
R0419:Spink14 UTSW 18 44,164,934 (GRCm39) missense probably damaging 1.00
R1404:Spink14 UTSW 18 44,161,896 (GRCm39) splice site probably benign
R6175:Spink14 UTSW 18 44,164,938 (GRCm39) missense probably benign 0.09
R6402:Spink14 UTSW 18 44,164,041 (GRCm39) missense probably damaging 1.00
R8534:Spink14 UTSW 18 44,164,079 (GRCm39) critical splice donor site probably null
R9116:Spink14 UTSW 18 44,164,059 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGAGTGTAGACTGAATGTAGTGCC -3'
(R):5'- CATGGCTGCTGAACTTGGTTAG -3'

Sequencing Primer
(F):5'- AGACTGAATGTAGTGCCATTGC -3'
(R):5'- CTGAACTTGGTTAGGGCAACATG -3'
Posted On 2014-12-04