Incidental Mutation 'R5662:Spink6'
ID 444169
Institutional Source Beutler Lab
Gene Symbol Spink6
Ensembl Gene ENSMUSG00000055095
Gene Name serine peptidase inhibitor, Kazal type 6
Synonyms EG433180
MMRRC Submission 043305-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R5662 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 44204460-44216678 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 44207481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 24 (Q24K)
Ref Sequence ENSEMBL: ENSMUSP00000069247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068473]
AlphaFold Q8BT20
Predicted Effect possibly damaging
Transcript: ENSMUST00000068473
AA Change: Q24K

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000069247
Gene: ENSMUSG00000055095
AA Change: Q24K

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
KAZAL 54 105 2.8e-17 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T A 7: 78,749,855 (GRCm39) V1542D possibly damaging Het
Acsm4 T G 7: 119,294,023 (GRCm39) N131K possibly damaging Het
Ankrd54 A G 15: 78,946,814 (GRCm39) S62P possibly damaging Het
Ccdc186 A G 19: 56,781,920 (GRCm39) I753T probably benign Het
Cers2 C T 3: 95,228,295 (GRCm39) R112C probably damaging Het
Col6a4 C G 9: 105,945,200 (GRCm39) R971S probably damaging Het
Ctsf T C 19: 4,906,606 (GRCm39) S178P probably damaging Het
Dennd4c C T 4: 86,713,525 (GRCm39) T492I probably benign Het
Dhx8 A G 11: 101,657,584 (GRCm39) K1212E possibly damaging Het
Dnah8 A G 17: 30,956,307 (GRCm39) T2096A probably damaging Het
Ephb4 A T 5: 137,370,457 (GRCm39) I886F probably damaging Het
Eprs1 T G 1: 185,126,622 (GRCm39) N519K possibly damaging Het
Fam3c T C 6: 22,355,061 (GRCm39) probably benign Het
Galnt17 G A 5: 131,114,844 (GRCm39) R219C probably damaging Het
Gm10645 A G 8: 83,892,486 (GRCm39) probably benign Het
Gpr132 G A 12: 112,816,416 (GRCm39) R137C probably damaging Het
Hydin T G 8: 111,307,341 (GRCm39) S3907A probably benign Het
Ighv1-49 A T 12: 115,019,027 (GRCm39) V56E probably damaging Het
Igtp A G 11: 58,097,105 (GRCm39) D92G probably damaging Het
Itga1 C T 13: 115,122,707 (GRCm39) V750I probably benign Het
Katnip A G 7: 125,441,875 (GRCm39) R595G probably benign Het
Kif3c T A 12: 3,417,031 (GRCm39) Y351N probably damaging Het
Klhdc1 T A 12: 69,329,939 (GRCm39) I356N probably benign Het
Lrrc34 T C 3: 30,685,473 (GRCm39) Y292C probably benign Het
Ly75 G A 2: 60,182,725 (GRCm39) T526M probably damaging Het
Mroh4 A T 15: 74,497,277 (GRCm39) D181E possibly damaging Het
Nutm1 T C 2: 112,079,645 (GRCm39) N757D probably benign Het
Or1e25 T C 11: 73,494,005 (GRCm39) F200L probably benign Het
Or1m1 A G 9: 18,666,896 (GRCm39) F12L probably damaging Het
Or6c215 T C 10: 129,638,176 (GRCm39) T73A possibly damaging Het
Or9s18 T C 13: 65,300,067 (GRCm39) F10L possibly damaging Het
Paxbp1 G A 16: 90,834,285 (GRCm39) T167M probably benign Het
Pnpla7 A G 2: 24,942,396 (GRCm39) D1238G probably damaging Het
Pom121l2 T C 13: 22,166,358 (GRCm39) S210P probably benign Het
Ripor3 T G 2: 167,835,476 (GRCm39) N165T probably benign Het
Serpine3 T G 14: 62,908,291 (GRCm39) S106R probably benign Het
Slc25a11 G A 11: 70,536,245 (GRCm39) R158* probably null Het
Slc26a6 G A 9: 108,736,538 (GRCm39) V506M possibly damaging Het
Slc45a2 A G 15: 11,022,169 (GRCm39) K304E probably benign Het
Slc4a4 C T 5: 89,176,103 (GRCm39) L25F probably damaging Het
Smarcb1 T C 10: 75,740,404 (GRCm39) N267S possibly damaging Het
Srebf2 T C 15: 82,079,204 (GRCm39) S811P probably benign Het
Ssc4d A G 5: 135,989,748 (GRCm39) *587R probably null Het
Sult2a8 C T 7: 14,161,765 (GRCm39) R27H probably benign Het
Sun2 C T 15: 79,623,069 (GRCm39) A90T probably benign Het
Ubr7 T C 12: 102,734,526 (GRCm39) S267P probably benign Het
Wdr55 G A 18: 36,893,448 (GRCm39) V37M possibly damaging Het
Xdh C T 17: 74,248,110 (GRCm39) G45S probably damaging Het
Zfp638 T A 6: 83,920,111 (GRCm39) S570T probably damaging Het
Other mutations in Spink6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0751:Spink6 UTSW 18 44,204,605 (GRCm39) splice site probably benign
R1184:Spink6 UTSW 18 44,204,605 (GRCm39) splice site probably benign
R1663:Spink6 UTSW 18 44,204,588 (GRCm39) missense unknown
R4748:Spink6 UTSW 18 44,215,428 (GRCm39) splice site probably null
R5384:Spink6 UTSW 18 44,215,347 (GRCm39) missense probably damaging 1.00
R6251:Spink6 UTSW 18 44,207,498 (GRCm39) splice site probably null
R7388:Spink6 UTSW 18 44,215,386 (GRCm39) missense probably damaging 1.00
R7403:Spink6 UTSW 18 44,204,564 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CCTCAACAAAATAGGTGAGCAG -3'
(R):5'- GTTTGTTTAATAACACAGCACCCTG -3'

Sequencing Primer
(F):5'- CTCAACAAAATAGGTGAGCAGACTTG -3'
(R):5'- CAGCACCCTGTCAATGTATAAAAATG -3'
Posted On 2016-11-09