Incidental Mutation 'R5363:Spink11'
ID 422961
Institutional Source Beutler Lab
Gene Symbol Spink11
Ensembl Gene ENSMUSG00000073573
Gene Name serine peptidase inhibitor, Kazal type 11
Synonyms 9230112K01Rik
MMRRC Submission 042941-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R5363 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 44323116-44329244 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44328753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 32 (I32V)
Ref Sequence ENSEMBL: ENSMUSP00000095194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097587]
AlphaFold Q09TK7
Predicted Effect probably benign
Transcript: ENSMUST00000097587
AA Change: I32V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000095194
Gene: ENSMUSG00000073573
AA Change: I32V

DomainStartEndE-ValueType
transmembrane domain 31 53 N/A INTRINSIC
KAZAL 63 111 7.29e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185266
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,132,963 (GRCm39) I40T probably benign Het
Abca13 T C 11: 9,227,035 (GRCm39) V597A possibly damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Anapc1 A G 2: 128,492,114 (GRCm39) probably null Het
Ap4e1 G A 2: 126,879,784 (GRCm39) probably null Het
Apod T C 16: 31,129,909 (GRCm39) T16A probably benign Het
Arrdc5 C T 17: 56,607,138 (GRCm39) V36M probably damaging Het
Bcan A G 3: 87,902,794 (GRCm39) V328A probably damaging Het
Bche A G 3: 73,607,972 (GRCm39) Y485H probably damaging Het
Btbd6 A G 12: 112,941,756 (GRCm39) Y356C probably damaging Het
Cdh4 A G 2: 179,528,556 (GRCm39) T555A probably benign Het
Ciita C T 16: 10,330,031 (GRCm39) H769Y probably damaging Het
Clspn A G 4: 126,455,579 (GRCm39) D35G possibly damaging Het
Cpsf3 T A 12: 21,358,986 (GRCm39) M562K probably benign Het
Cstdc1 G T 2: 148,625,298 (GRCm39) L77F probably damaging Het
Cwc22 ATCTCTCTCTCTCTCTCT ATCTCTCTCTCTCTCT 2: 77,759,803 (GRCm39) probably null Het
Cyp2a22 T A 7: 26,635,858 (GRCm39) Q235L probably damaging Het
Dicer1 A G 12: 104,669,410 (GRCm39) S1091P probably damaging Het
Dync1li1 T A 9: 114,544,297 (GRCm39) I323N probably damaging Het
Fat4 A G 3: 38,942,154 (GRCm39) N349S probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Hectd4 T C 5: 121,448,666 (GRCm39) M338T probably benign Het
Insyn2b G A 11: 34,352,788 (GRCm39) E277K probably damaging Het
Lactb2 A T 1: 13,700,356 (GRCm39) I225N probably benign Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Mrps30 A G 13: 118,523,698 (GRCm39) S25P probably benign Het
Myg1 T C 15: 102,246,259 (GRCm39) V378A probably benign Het
Notch4 C T 17: 34,806,097 (GRCm39) T1731I probably damaging Het
Ntmt1 A G 2: 30,710,660 (GRCm39) D121G probably damaging Het
Or10p21 C A 10: 128,847,783 (GRCm39) P210T probably damaging Het
Or5d39 A T 2: 87,980,146 (GRCm39) D72E probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pclo A G 5: 14,719,424 (GRCm39) D1187G unknown Het
Pkd1 T A 17: 24,784,047 (GRCm39) Y198N probably benign Het
Plk4 T A 3: 40,756,419 (GRCm39) N83K possibly damaging Het
Prune2 A T 19: 17,095,630 (GRCm39) Q378L probably damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rasa1 G T 13: 85,436,674 (GRCm39) T118K possibly damaging Het
Rin3 G A 12: 102,292,093 (GRCm39) V97M probably damaging Het
Rock2 T C 12: 17,015,655 (GRCm39) probably null Het
Slc34a1 A G 13: 55,551,081 (GRCm39) I289V probably benign Het
Slc34a1 T C 13: 55,560,103 (GRCm39) L443P probably damaging Het
Slco2a1 A T 9: 102,947,462 (GRCm39) I254F probably damaging Het
Spire1 T C 18: 67,639,625 (GRCm39) E296G probably damaging Het
Sun1 A G 5: 139,220,498 (GRCm39) N410D probably damaging Het
Syt14 T A 1: 192,612,971 (GRCm39) T610S possibly damaging Het
Tenm3 T C 8: 48,740,866 (GRCm39) I1206V possibly damaging Het
Tet3 A T 6: 83,353,746 (GRCm39) probably null Het
Thbs1 A T 2: 117,953,147 (GRCm39) Q919L probably damaging Het
Trappc10 A G 10: 78,024,674 (GRCm39) F1152L possibly damaging Het
Trp63 C A 16: 25,682,468 (GRCm39) N176K probably damaging Het
Zbtb17 A G 4: 141,194,072 (GRCm39) E700G probably benign Het
Zfp446 G A 7: 12,711,984 (GRCm39) R69H probably benign Het
Zfy2 C T Y: 2,106,555 (GRCm39) C693Y possibly damaging Het
Zxdc A G 6: 90,359,128 (GRCm39) T587A probably damaging Het
Zyg11a A G 4: 108,046,819 (GRCm39) C552R probably damaging Het
Other mutations in Spink11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00677:Spink11 APN 18 44,325,701 (GRCm39) critical splice acceptor site probably null
R1330:Spink11 UTSW 18 44,329,195 (GRCm39) missense unknown
R1973:Spink11 UTSW 18 44,329,205 (GRCm39) missense unknown
R2136:Spink11 UTSW 18 44,323,554 (GRCm39) missense probably benign 0.00
R2968:Spink11 UTSW 18 44,328,777 (GRCm39) missense possibly damaging 0.53
R8558:Spink11 UTSW 18 44,324,748 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCATTCCGCATGTAATTTTCAAGG -3'
(R):5'- TCCGTGCTCAGATTGTGTC -3'

Sequencing Primer
(F):5'- ACATGCTTCATTTCATTTCATTTCAC -3'
(R):5'- CGTGCTCAGATTGTGTCTTGCTG -3'
Posted On 2016-08-04