Incidental Mutation 'R6982:Spink5'
ID 557101
Institutional Source Beutler Lab
Gene Symbol Spink5
Ensembl Gene ENSMUSG00000055561
Gene Name serine peptidase inhibitor, Kazal type 5
Synonyms LEKT1, 2310065D10Rik
MMRRC Submission 045383-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6982 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 44096302-44155568 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to C at 44143109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000066214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069245]
AlphaFold Q148R4
Predicted Effect probably null
Transcript: ENSMUST00000069245
SMART Domains Protein: ENSMUSP00000066214
Gene: ENSMUSG00000055561

DomainStartEndE-ValueType
PDB:1UUC|A 26 77 3e-6 PDB
KAZAL 97 152 1.67e-15 SMART
KAZAL 161 216 2.07e-3 SMART
KAZAL 226 281 3.37e-11 SMART
KAZAL 298 353 2.92e-6 SMART
KAZAL 367 424 6.73e-3 SMART
KAZAL 426 480 6.07e-4 SMART
KAZAL 496 558 2.43e-1 SMART
KAZAL 559 614 2.72e-15 SMART
KAZAL 633 687 1.95e-7 SMART
KAZAL 700 755 1.01e-9 SMART
KAZAL 769 824 7.29e-7 SMART
KAZAL 865 931 1.32e-4 SMART
KAZAL 942 996 2.74e-11 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.7%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutant mice display neonatal lethality, exfoliative erythroderma, and severe dehydration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 T A 13: 70,916,639 (GRCm39) probably null Het
Adamtsl3 C A 7: 82,164,271 (GRCm39) P362H probably damaging Het
Ambra1 G A 2: 91,747,818 (GRCm39) V1065I probably damaging Het
Ankrd66 T C 17: 43,849,926 (GRCm39) T79A probably damaging Het
Ano2 G A 6: 125,969,856 (GRCm39) R724H probably benign Het
Bmp8a A G 4: 123,218,934 (GRCm39) L158P probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cilp T C 9: 65,187,087 (GRCm39) Y1061H probably damaging Het
Clybl G A 14: 122,639,359 (GRCm39) G308R probably damaging Het
Cntnap5c C T 17: 58,399,247 (GRCm39) P367S possibly damaging Het
Col20a1 T C 2: 180,638,499 (GRCm39) V371A probably benign Het
Col24a1 G T 3: 145,020,807 (GRCm39) G393* probably null Het
Dnah12 A G 14: 26,521,033 (GRCm39) probably null Het
Dnah8 T A 17: 30,986,899 (GRCm39) S3183T probably benign Het
Dph2 A T 4: 117,746,993 (GRCm39) I435N probably benign Het
Fam3c G T 6: 22,322,300 (GRCm39) A107D probably damaging Het
Fezf2 G T 14: 12,343,645 (GRCm38) Q367K probably damaging Het
Gbp2 A G 3: 142,335,846 (GRCm39) D182G probably damaging Het
Gpr162 T A 6: 124,837,919 (GRCm39) I244F probably damaging Het
Jakmip1 A T 5: 37,282,285 (GRCm39) N159I probably damaging Het
Jkampl A T 6: 73,446,527 (GRCm39) Y7* probably null Het
Kdm4a A T 4: 118,010,636 (GRCm39) probably null Het
Klf5 A G 14: 99,550,671 (GRCm39) H416R probably damaging Het
Lrrc63 A G 14: 75,322,211 (GRCm39) V631A probably benign Het
Man1a T C 10: 53,950,819 (GRCm39) E101G possibly damaging Het
Msantd4 T A 9: 4,384,061 (GRCm39) N127K possibly damaging Het
Myo3b A T 2: 70,256,409 (GRCm39) E1248D probably benign Het
Ncapd2 A T 6: 125,153,699 (GRCm39) I672N probably damaging Het
Nfic T C 10: 81,256,634 (GRCm39) probably null Het
Nr1h3 A G 2: 91,021,104 (GRCm39) S228P probably damaging Het
Or8g32 T C 9: 39,305,618 (GRCm39) I174T probably damaging Het
Pccb A T 9: 100,905,349 (GRCm39) probably null Het
Pcmtd1 T G 1: 7,217,906 (GRCm39) V118G probably damaging Het
Pkhd1l1 A T 15: 44,429,664 (GRCm39) N3294I probably damaging Het
Plscr4 A G 9: 92,364,796 (GRCm39) T74A probably benign Het
Rasa2 A T 9: 96,442,803 (GRCm39) I540N probably damaging Het
Serpina3j C A 12: 104,283,556 (GRCm39) T218K probably benign Het
Slc16a4 A G 3: 107,206,589 (GRCm39) D173G probably benign Het
Slc19a2 T C 1: 164,084,428 (GRCm39) L106P possibly damaging Het
Slc22a19 C T 19: 7,660,334 (GRCm39) V359M probably benign Het
Slc22a7 T A 17: 46,745,563 (GRCm39) M323L probably benign Het
Spata21 A T 4: 140,824,184 (GRCm39) N149I possibly damaging Het
Ssbp4 T C 8: 71,060,815 (GRCm39) S6G possibly damaging Het
Sytl2 T C 7: 90,045,772 (GRCm39) S641P probably damaging Het
Tcf3 A T 10: 80,253,384 (GRCm39) F215I probably damaging Het
Tmem150c C A 5: 100,240,680 (GRCm39) D61Y probably benign Het
Ttc7 T A 17: 87,614,437 (GRCm39) F201I probably damaging Het
Tyw3 T C 3: 154,285,867 (GRCm39) I208V probably benign Het
Vmn1r202 T C 13: 22,685,917 (GRCm39) T167A probably benign Het
Vmn1r83 A T 7: 12,055,763 (GRCm39) L98Q probably damaging Het
Vmn2r95 T C 17: 18,672,323 (GRCm39) Y687H probably damaging Het
Wdr59 A T 8: 112,187,445 (GRCm39) F783L probably benign Het
Zfhx4 A G 3: 5,468,890 (GRCm39) Y3016C probably damaging Het
Zfp518b T C 5: 38,830,248 (GRCm39) T586A probably benign Het
Other mutations in Spink5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Spink5 APN 18 44,120,938 (GRCm39) splice site probably benign
IGL00332:Spink5 APN 18 44,100,111 (GRCm39) missense probably benign 0.00
IGL00501:Spink5 APN 18 44,110,806 (GRCm39) missense probably damaging 0.98
IGL00772:Spink5 APN 18 44,139,487 (GRCm39) missense probably benign 0.02
IGL00920:Spink5 APN 18 44,136,276 (GRCm39) missense probably damaging 1.00
IGL00980:Spink5 APN 18 44,140,777 (GRCm39) missense probably damaging 1.00
IGL01016:Spink5 APN 18 44,140,711 (GRCm39) missense probably damaging 1.00
IGL01155:Spink5 APN 18 44,114,214 (GRCm39) missense probably benign 0.01
IGL01374:Spink5 APN 18 44,122,471 (GRCm39) missense possibly damaging 0.74
IGL01629:Spink5 APN 18 44,129,677 (GRCm39) splice site probably benign
IGL01907:Spink5 APN 18 44,129,743 (GRCm39) missense probably damaging 1.00
IGL01931:Spink5 APN 18 44,148,705 (GRCm39) missense probably benign 0.02
IGL02237:Spink5 APN 18 44,145,934 (GRCm39) missense probably benign 0.03
IGL02306:Spink5 APN 18 44,097,511 (GRCm39) missense probably damaging 0.98
IGL02402:Spink5 APN 18 44,100,171 (GRCm39) missense probably damaging 1.00
IGL02425:Spink5 APN 18 44,123,811 (GRCm39) critical splice donor site probably null
IGL02552:Spink5 APN 18 44,125,235 (GRCm39) missense possibly damaging 0.80
IGL02554:Spink5 APN 18 44,148,661 (GRCm39) missense probably benign 0.01
IGL03066:Spink5 APN 18 44,149,457 (GRCm39) missense probably damaging 1.00
IGL03288:Spink5 APN 18 44,147,827 (GRCm39) missense possibly damaging 0.59
crusty2 UTSW 18 44,133,001 (GRCm39) splice site probably benign
R0079:Spink5 UTSW 18 44,110,831 (GRCm39) missense probably damaging 1.00
R0184:Spink5 UTSW 18 44,136,265 (GRCm39) missense probably benign 0.00
R0452:Spink5 UTSW 18 44,096,385 (GRCm39) missense possibly damaging 0.74
R0569:Spink5 UTSW 18 44,122,486 (GRCm39) missense probably damaging 1.00
R0639:Spink5 UTSW 18 44,146,042 (GRCm39) splice site probably null
R0648:Spink5 UTSW 18 44,132,864 (GRCm39) splice site probably benign
R0705:Spink5 UTSW 18 44,125,341 (GRCm39) missense probably benign 0.01
R1170:Spink5 UTSW 18 44,116,630 (GRCm39) missense probably benign 0.07
R1290:Spink5 UTSW 18 44,140,778 (GRCm39) missense probably damaging 0.99
R1345:Spink5 UTSW 18 44,123,749 (GRCm39) missense possibly damaging 0.88
R1458:Spink5 UTSW 18 44,140,786 (GRCm39) missense probably benign 0.01
R1530:Spink5 UTSW 18 44,148,738 (GRCm39) missense probably damaging 0.96
R1570:Spink5 UTSW 18 44,100,174 (GRCm39) missense probably benign 0.00
R1820:Spink5 UTSW 18 44,122,486 (GRCm39) missense possibly damaging 0.94
R1843:Spink5 UTSW 18 44,132,958 (GRCm39) missense probably benign 0.03
R1968:Spink5 UTSW 18 44,123,775 (GRCm39) missense probably benign 0.06
R2050:Spink5 UTSW 18 44,140,825 (GRCm39) critical splice donor site probably null
R2252:Spink5 UTSW 18 44,153,891 (GRCm39) nonsense probably null
R2278:Spink5 UTSW 18 44,119,396 (GRCm39) missense probably benign 0.07
R2279:Spink5 UTSW 18 44,119,396 (GRCm39) missense probably benign 0.07
R2696:Spink5 UTSW 18 44,115,359 (GRCm39) missense probably damaging 1.00
R2992:Spink5 UTSW 18 44,129,696 (GRCm39) missense probably damaging 1.00
R3422:Spink5 UTSW 18 44,143,311 (GRCm39) missense probably benign 0.01
R3934:Spink5 UTSW 18 44,149,494 (GRCm39) missense probably damaging 1.00
R4179:Spink5 UTSW 18 44,120,934 (GRCm39) missense probably benign
R4854:Spink5 UTSW 18 44,153,908 (GRCm39) makesense probably null
R5011:Spink5 UTSW 18 44,139,479 (GRCm39) missense probably damaging 0.97
R5133:Spink5 UTSW 18 44,119,490 (GRCm39) missense probably damaging 1.00
R5163:Spink5 UTSW 18 44,132,924 (GRCm39) missense possibly damaging 0.95
R5185:Spink5 UTSW 18 44,148,711 (GRCm39) missense probably damaging 0.97
R5187:Spink5 UTSW 18 44,122,518 (GRCm39) missense probably damaging 1.00
R5292:Spink5 UTSW 18 44,139,521 (GRCm39) missense probably benign
R5332:Spink5 UTSW 18 44,125,984 (GRCm39) missense possibly damaging 0.89
R5600:Spink5 UTSW 18 44,151,778 (GRCm39) missense probably damaging 0.96
R6267:Spink5 UTSW 18 44,147,824 (GRCm39) missense probably damaging 0.99
R6296:Spink5 UTSW 18 44,147,824 (GRCm39) missense probably damaging 0.99
R6373:Spink5 UTSW 18 44,123,739 (GRCm39) missense probably damaging 1.00
R6982:Spink5 UTSW 18 44,110,792 (GRCm39) missense probably damaging 1.00
R7332:Spink5 UTSW 18 44,115,317 (GRCm39) missense probably damaging 0.96
R7396:Spink5 UTSW 18 44,110,722 (GRCm39) missense possibly damaging 0.95
R7643:Spink5 UTSW 18 44,143,319 (GRCm39) missense probably benign 0.37
R7726:Spink5 UTSW 18 44,096,419 (GRCm39) missense probably damaging 1.00
R7828:Spink5 UTSW 18 44,143,296 (GRCm39) missense probably benign 0.15
R7836:Spink5 UTSW 18 44,132,888 (GRCm39) missense probably benign 0.00
R7880:Spink5 UTSW 18 44,119,393 (GRCm39) missense probably benign 0.40
R8031:Spink5 UTSW 18 44,143,303 (GRCm39) missense probably benign 0.07
R8198:Spink5 UTSW 18 44,125,947 (GRCm39) missense probably benign 0.17
R8361:Spink5 UTSW 18 44,122,529 (GRCm39) missense probably damaging 1.00
R8375:Spink5 UTSW 18 44,123,786 (GRCm39) missense probably benign 0.01
R8684:Spink5 UTSW 18 44,143,305 (GRCm39) missense probably benign 0.02
R8749:Spink5 UTSW 18 44,122,425 (GRCm39) nonsense probably null
R8918:Spink5 UTSW 18 44,100,087 (GRCm39) missense probably damaging 0.98
R9064:Spink5 UTSW 18 44,100,193 (GRCm39) missense probably damaging 1.00
R9161:Spink5 UTSW 18 44,147,986 (GRCm39) missense probably damaging 1.00
R9221:Spink5 UTSW 18 44,119,367 (GRCm39) missense probably damaging 1.00
R9292:Spink5 UTSW 18 44,148,075 (GRCm39) missense possibly damaging 0.91
R9545:Spink5 UTSW 18 44,136,262 (GRCm39) missense possibly damaging 0.88
R9784:Spink5 UTSW 18 44,119,490 (GRCm39) missense probably damaging 1.00
Z1177:Spink5 UTSW 18 44,129,764 (GRCm39) missense probably damaging 1.00
Z1177:Spink5 UTSW 18 44,129,702 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AGTGACTGCCAAACTTTTGAATGG -3'
(R):5'- CGTGAACCTGCCAACTTCAC -3'

Sequencing Primer
(F):5'- GACTGCCAAACTTTTGAATGGAAATC -3'
(R):5'- ACCTGCCAACTTCACATATTAATATG -3'
Posted On 2019-06-19