Incidental Mutation 'R4748:Spink6'
ID 357342
Institutional Source Beutler Lab
Gene Symbol Spink6
Ensembl Gene ENSMUSG00000055095
Gene Name serine peptidase inhibitor, Kazal type 6
Synonyms EG433180
MMRRC Submission 042030-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R4748 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 44071393-44083610 bp(+) (GRCm38)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 44082361 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000069247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068473]
AlphaFold Q8BT20
Predicted Effect probably null
Transcript: ENSMUST00000068473
SMART Domains Protein: ENSMUSP00000069247
Gene: ENSMUSG00000055095

signal peptide 1 23 N/A INTRINSIC
KAZAL 54 105 2.8e-17 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik T A 1: 138,856,656 (GRCm38) E54D possibly damaging Het
4933415F23Rik T C 1: 23,101,870 (GRCm38) E121G probably damaging Het
Abcb6 C A 1: 75,177,358 (GRCm38) G367W probably damaging Het
Asprv1 A G 6: 86,628,423 (GRCm38) M84V probably damaging Het
Aspscr1 T C 11: 120,701,507 (GRCm38) V291A probably damaging Het
B4galnt4 T C 7: 141,071,720 (GRCm38) F980L probably damaging Het
Bpi G A 2: 158,272,021 (GRCm38) V280I possibly damaging Het
Bptf T C 11: 107,095,880 (GRCm38) D581G probably damaging Het
Cap2 T A 13: 46,639,826 (GRCm38) Y223N possibly damaging Het
Ccdc141 A C 2: 77,057,980 (GRCm38) I480M possibly damaging Het
Ccnh T A 13: 85,189,639 (GRCm38) V35E probably benign Het
Cd6 G T 19: 10,794,225 (GRCm38) S433* probably null Het
Ceacam10 A C 7: 24,781,052 (GRCm38) I83L probably benign Het
Chek2 T C 5: 110,855,839 (GRCm38) probably null Het
Chia1 A T 3: 106,122,449 (GRCm38) D73V probably damaging Het
Commd2 G A 3: 57,646,794 (GRCm38) T162I probably benign Het
Creb3l3 C T 10: 81,086,047 (GRCm38) A316T probably benign Het
Cul4a A G 8: 13,123,526 (GRCm38) K1R probably benign Het
Cyp2c23 T C 19: 44,016,737 (GRCm38) probably null Het
D630045J12Rik T C 6: 38,196,841 (GRCm38) T131A possibly damaging Het
Dctn4 A C 18: 60,550,236 (GRCm38) K295N probably damaging Het
Dnah1 A G 14: 31,319,945 (GRCm38) V23A probably benign Het
Dync1i1 A G 6: 5,767,048 (GRCm38) K91E possibly damaging Het
Dzip1l A G 9: 99,642,651 (GRCm38) D275G probably damaging Het
Enam C A 5: 88,501,543 (GRCm38) P304T probably damaging Het
Enpep A G 3: 129,332,163 (GRCm38) Y107H probably damaging Het
Exd2 T C 12: 80,480,576 (GRCm38) L27P probably damaging Het
Fam135b T A 15: 71,464,055 (GRCm38) D430V probably benign Het
Fam222b C T 11: 78,154,603 (GRCm38) T202I possibly damaging Het
Fmod T A 1: 134,041,174 (GRCm38) N317K probably damaging Het
Frem2 A G 3: 53,541,093 (GRCm38) F2301L probably damaging Het
Frem3 T C 8: 80,611,459 (GRCm38) F127S probably damaging Het
Gbp7 A G 3: 142,538,087 (GRCm38) S132G probably benign Het
Gm4787 A G 12: 81,378,056 (GRCm38) C443R probably damaging Het
Grik2 T C 10: 49,535,341 (GRCm38) M5V possibly damaging Het
Helb T C 10: 120,084,849 (GRCm38) D1063G probably benign Het
Kirrel C T 3: 87,089,151 (GRCm38) M380I probably null Het
Krt90 G A 15: 101,555,333 (GRCm38) L429F probably damaging Het
Lrr1 C A 12: 69,174,462 (GRCm38) T126K probably benign Het
Mgat4e C A 1: 134,542,028 (GRCm38) D93Y probably damaging Het
Mllt3 A T 4: 87,840,781 (GRCm38) S343R possibly damaging Het
Mms19 T A 19: 41,944,558 (GRCm38) S1031C probably damaging Het
Mtrf1 C T 14: 79,411,650 (GRCm38) H237Y probably damaging Het
Nckap1l T A 15: 103,473,056 (GRCm38) L408Q probably damaging Het
Oit3 A T 10: 59,424,082 (GRCm38) C500S probably damaging Het
Olfr1163 T A 2: 88,070,612 (GRCm38) I257L probably benign Het
Olfr1238 C T 2: 89,406,255 (GRCm38) V275I probably benign Het
Olfr273 A G 4: 52,856,076 (GRCm38) S146P possibly damaging Het
Olfr738 T G 14: 50,413,876 (GRCm38) L111V possibly damaging Het
Otud7a T C 7: 63,735,915 (GRCm38) S376P possibly damaging Het
Pabpc2 A T 18: 39,774,269 (GRCm38) K196* probably null Het
Paqr8 T A 1: 20,935,413 (GRCm38) C264S probably benign Het
Pgm2 T A 4: 99,981,979 (GRCm38) F459Y probably benign Het
Phip C A 9: 82,908,869 (GRCm38) V675L probably benign Het
Pnma1 T G 12: 84,147,723 (GRCm38) T69P probably benign Het
Ptpn12 A T 5: 21,005,385 (GRCm38) C242* probably null Het
Rabep1 T A 11: 70,908,468 (GRCm38) V306E probably benign Het
Ros1 C T 10: 52,115,997 (GRCm38) D1377N probably benign Het
Ryr3 T C 2: 112,964,405 (GRCm38) T121A possibly damaging Het
Scaf11 G A 15: 96,420,421 (GRCm38) Q421* probably null Het
Shcbp1 G A 8: 4,744,512 (GRCm38) T427M probably damaging Het
Shprh G A 10: 11,170,476 (GRCm38) R979H probably damaging Het
Slc22a27 C T 19: 7,925,876 (GRCm38) C163Y probably benign Het
Slc27a1 C T 8: 71,580,809 (GRCm38) T310M possibly damaging Het
Slc27a1 A G 8: 71,580,675 (GRCm38) D287G probably damaging Het
Slc29a3 A G 10: 60,716,326 (GRCm38) V313A probably benign Het
Slc35f2 A T 9: 53,771,785 (GRCm38) M1L probably benign Het
Sltm G C 9: 70,581,365 (GRCm38) R599T probably damaging Het
Spic T A 10: 88,675,890 (GRCm38) Q168L probably damaging Het
Stac2 T C 11: 98,041,372 (GRCm38) E235G possibly damaging Het
Szt2 G A 4: 118,389,191 (GRCm38) Q957* probably null Het
Them7 A T 2: 105,378,646 (GRCm38) T104S possibly damaging Het
Tmed4 T A 11: 6,271,716 (GRCm38) I207F possibly damaging Het
Tmem248 A G 5: 130,236,890 (GRCm38) E178G probably benign Het
Tomm40l G A 1: 171,219,562 (GRCm38) R296* probably null Het
Trim80 C A 11: 115,448,138 (GRCm38) T598N possibly damaging Het
Trim9 T C 12: 70,248,273 (GRCm38) N688D probably damaging Het
Vil1 C T 1: 74,421,266 (GRCm38) A194V probably damaging Het
Vmn2r61 A T 7: 42,267,141 (GRCm38) M393L probably damaging Het
Vmn2r63 C T 7: 42,928,120 (GRCm38) M331I probably benign Het
Vps33b G T 7: 80,290,048 (GRCm38) A516S probably damaging Het
Wisp1 C A 15: 66,906,640 (GRCm38) Y103* probably null Het
Zc3h6 G A 2: 129,002,240 (GRCm38) G235R probably damaging Het
Zfp612 T A 8: 110,088,672 (GRCm38) D170E probably benign Het
Zfp746 A G 6: 48,064,556 (GRCm38) I412T probably benign Het
Other mutations in Spink6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0751:Spink6 UTSW 18 44,071,538 (GRCm38) splice site probably benign
R1184:Spink6 UTSW 18 44,071,538 (GRCm38) splice site probably benign
R1663:Spink6 UTSW 18 44,071,521 (GRCm38) missense unknown
R5384:Spink6 UTSW 18 44,082,280 (GRCm38) missense probably damaging 1.00
R5662:Spink6 UTSW 18 44,074,414 (GRCm38) missense possibly damaging 0.61
R6251:Spink6 UTSW 18 44,074,431 (GRCm38) splice site probably null
R7388:Spink6 UTSW 18 44,082,319 (GRCm38) missense probably damaging 1.00
R7403:Spink6 UTSW 18 44,071,497 (GRCm38) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-11-11