Incidental Mutation 'R7988:Spink7'
ID615419
Institutional Source Beutler Lab
Gene Symbol Spink7
Ensembl Gene ENSMUSG00000060201
Gene Nameserine peptidase inhibitor, Kazal type 7 (putative)
SynonymsEG408198
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock #R7988 (G1)
Quality Score225.009
Status Not validated
Chromosome18
Chromosomal Location62592413-62596264 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 62592416 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 85 (C85*)
Ref Sequence ENSEMBL: ENSMUSP00000075551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055725] [ENSMUST00000076194] [ENSMUST00000162365]
Predicted Effect probably benign
Transcript: ENSMUST00000055725
SMART Domains Protein: ENSMUSP00000062976
Gene: ENSMUSG00000044176

DomainStartEndE-ValueType
KAZAL 34 78 2.85e-2 SMART
transmembrane domain 80 102 N/A INTRINSIC
KAZAL 111 162 2.61e-17 SMART
Predicted Effect probably null
Transcript: ENSMUST00000076194
AA Change: C85*
SMART Domains Protein: ENSMUSP00000075551
Gene: ENSMUSG00000060201
AA Change: C85*

DomainStartEndE-ValueType
KAZAL 31 85 2.08e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162365
SMART Domains Protein: ENSMUSP00000125171
Gene: ENSMUSG00000044176

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
KAZAL 34 78 2.85e-2 SMART
transmembrane domain 80 102 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik A G 10: 82,296,102 I358T probably benign Het
Actl9 T C 17: 33,433,827 V287A possibly damaging Het
Adcy10 T A 1: 165,513,168 probably null Het
Aox1 G A 1: 58,104,398 S1225N possibly damaging Het
B430306N03Rik T A 17: 48,316,960 S96R probably benign Het
Bpifa5 T C 2: 154,165,588 I150T probably damaging Het
Ccdc28a A T 10: 18,218,328 V181D probably benign Het
Cd40 T C 2: 165,062,325 Y31H probably damaging Het
Cep290 A G 10: 100,554,490 T2032A probably benign Het
Cnbd1 T C 4: 18,907,100 K158R possibly damaging Het
Degs1 A C 1: 182,279,036 N255K possibly damaging Het
Dirc2 G A 16: 35,768,950 P98S probably benign Het
Dll3 T G 7: 28,301,535 I32L possibly damaging Het
Dsg4 A T 18: 20,454,669 I278F probably damaging Het
Ets2 T A 16: 95,706,437 I6N probably damaging Het
Gbp4 A G 5: 105,121,087 F400S probably damaging Het
Golgb1 C T 16: 36,913,685 A1139V probably benign Het
Hfm1 A T 5: 106,898,553 L489H probably damaging Het
Kcna5 T C 6: 126,534,868 D99G probably benign Het
Mief1 C G 15: 80,249,398 P219A probably damaging Het
Myh11 A T 16: 14,207,681 Y1408* probably null Het
Myo1b A G 1: 51,763,884 probably null Het
Nedd4 A T 9: 72,677,379 K121* probably null Het
Nek9 A C 12: 85,305,596 M831R probably damaging Het
Nf1 G A 11: 79,547,112 A83T possibly damaging Het
Olfr772 A T 10: 129,174,187 I278N probably damaging Het
Osbpl10 T C 9: 115,062,010 probably null Het
Pcdhb6 T C 18: 37,334,554 L176P probably benign Het
Plxnb1 G A 9: 109,109,232 V1285M probably damaging Het
Psg26 T A 7: 18,475,317 M389L probably benign Het
Slc4a10 A G 2: 62,268,151 E543G probably damaging Het
Stard9 T C 2: 120,696,081 W940R not run Het
Susd2 A T 10: 75,639,657 L471* probably null Het
Taf2 A T 15: 55,047,432 D615E possibly damaging Het
Tfdp2 T C 9: 96,310,606 S14P Het
Tha1 A C 11: 117,871,067 V116G possibly damaging Het
Trim46 T C 3: 89,244,326 H50R probably damaging Het
Trit1 A G 4: 123,016,715 K36E probably damaging Het
Ttc13 A T 8: 124,688,596 M268K probably benign Het
Ufc1 T A 1: 171,289,935 K68N probably damaging Het
Zbbx T C 3: 75,085,513 T225A probably benign Het
Zfp768 T C 7: 127,344,659 E102G probably damaging Het
Other mutations in Spink7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02598:Spink7 APN 18 62594285 missense probably damaging 1.00
R0233:Spink7 UTSW 18 62594352 missense probably benign 0.20
R0233:Spink7 UTSW 18 62594352 missense probably benign 0.20
R1471:Spink7 UTSW 18 62596204 missense possibly damaging 0.90
R5249:Spink7 UTSW 18 62592436 missense possibly damaging 0.85
R7110:Spink7 UTSW 18 62594267 missense probably damaging 1.00
R7905:Spink7 UTSW 18 62592416 nonsense probably null
X0025:Spink7 UTSW 18 62592429 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGTCTCCTGCACAACAACTATTG -3'
(R):5'- TGGAAAGAGGTTCTGCTACG -3'

Sequencing Primer
(F):5'- GCAATTCTGTAACTCATCCTTGAATC -3'
(R):5'- GCAGTCCTGTTCTTAGCCATAAGG -3'
Posted On2019-12-27