Incidental Mutation 'IGL01931:Spink5'
ID 180444
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spink5
Ensembl Gene ENSMUSG00000055561
Gene Name serine peptidase inhibitor, Kazal type 5
Synonyms LEKT1, 2310065D10Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01931
Quality Score
Status
Chromosome 18
Chromosomal Location 44096302-44155568 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44148705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 923 (I923F)
Ref Sequence ENSEMBL: ENSMUSP00000066214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069245]
AlphaFold Q148R4
Predicted Effect probably benign
Transcript: ENSMUST00000069245
AA Change: I923F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000066214
Gene: ENSMUSG00000055561
AA Change: I923F

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
Coding Region Coverage
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533L02Rik A G 7: 124,917,869 (GRCm39) E87G unknown Het
Ano2 A G 6: 125,959,708 (GRCm39) Y656C probably damaging Het
Cckbr T C 7: 105,075,310 (GRCm39) S27P probably benign Het
Celsr1 T A 15: 85,791,861 (GRCm39) N2580I probably damaging Het
Cfap221 A G 1: 119,860,625 (GRCm39) L667P probably damaging Het
Col16a1 T C 4: 129,966,634 (GRCm39) C555R possibly damaging Het
Dync2h1 A G 9: 7,114,973 (GRCm39) V162A probably damaging Het
Dync2h1 G A 9: 7,011,207 (GRCm39) S3669L probably benign Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm4922 A G 10: 18,660,042 (GRCm39) S227P probably benign Het
Grin2c A G 11: 115,144,736 (GRCm39) F597L probably damaging Het
Hook3 G A 8: 26,578,083 (GRCm39) probably benign Het
Ltv1 A G 10: 13,061,245 (GRCm39) I106T probably damaging Het
Mdc1 T C 17: 36,159,123 (GRCm39) V501A probably benign Het
Myo15a T A 11: 60,386,964 (GRCm39) C667S probably damaging Het
Myom3 T C 4: 135,516,950 (GRCm39) V840A probably benign Het
Naip1 G T 13: 100,545,540 (GRCm39) C1329* probably null Het
Oas1c A C 5: 120,943,560 (GRCm39) I193S probably benign Het
Osbp2 C T 11: 3,655,388 (GRCm39) probably null Het
Phf1 T C 17: 27,154,509 (GRCm39) probably benign Het
Pisd C A 5: 32,896,476 (GRCm39) probably null Het
Ppox T C 1: 171,105,456 (GRCm39) Q302R probably null Het
Sec24b G A 3: 129,803,448 (GRCm39) P305S probably benign Het
Thsd7a A T 6: 12,504,098 (GRCm39) V352E probably damaging Het
Tpi1 A G 6: 124,789,603 (GRCm39) V152A possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Wdfy4 C T 14: 32,877,710 (GRCm39) G85S probably damaging Het
Wnk4 A G 11: 101,159,310 (GRCm39) T139A possibly damaging Het
Zfp345 T C 2: 150,315,270 (GRCm39) H89R 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
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 44,143,109 (GRCm39) splice site probably null
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
Posted On 2014-05-07