Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01629:Spink5'

92879

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 #

IGL01629

Quality Score

Status

Chromosome

Chromosomal Location

44096302-44155568 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 44129677 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 benign
Transcript: ENSMUST00000069245

SMART Domains

Protein: ENSMUSP00000066214
Gene: ENSMUSG00000055561

Domain	Start	End	E-Value	Type
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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	G	A	8: 27,608,761 (GRCm39)	A540T	possibly damaging	Het
Adm2	T	A	15: 89,207,605 (GRCm39)		probably null	Het
Alox12	G	A	11: 70,133,660 (GRCm39)	P555S	probably damaging	Het
Alpk2	A	G	18: 65,433,113 (GRCm39)	S1798P	probably damaging	Het
Amfr	T	A	8: 94,714,136 (GRCm39)		probably null	Het
Arhgef18	T	A	8: 3,431,942 (GRCm39)	C168S	possibly damaging	Het
Atxn7l3	A	T	11: 102,183,320 (GRCm39)		probably benign	Het
Ccdc191	A	G	16: 43,779,663 (GRCm39)	K707E	possibly damaging	Het
Cdc5l	G	T	17: 45,724,116 (GRCm39)	D391E	probably benign	Het
Cmtm2b	T	C	8: 105,056,420 (GRCm39)	S110P	possibly damaging	Het
Cyp2j8	T	C	4: 96,387,840 (GRCm39)	D207G	probably damaging	Het
Ddhd2	A	G	8: 26,225,855 (GRCm39)	F501L	possibly damaging	Het
Dnaaf6rt	T	A	1: 31,262,014 (GRCm39)		probably null	Het
Dnah1	C	T	14: 31,014,277 (GRCm39)	V1823M	probably damaging	Het
Gjb4	T	C	4: 127,245,419 (GRCm39)	D174G	possibly damaging	Het
Gm45213	A	G	7: 65,711,962 (GRCm39)	D58G	probably damaging	Het
Hes1	C	T	16: 29,884,976 (GRCm39)		probably benign	Het
Krt33b	T	A	11: 99,920,386 (GRCm39)	Q89L	probably benign	Het
Llcfc1	C	A	6: 41,661,459 (GRCm39)	S3Y	possibly damaging	Het
Ltf	A	G	9: 110,864,874 (GRCm39)	N569S	probably damaging	Het
Mknk1	T	A	4: 115,732,731 (GRCm39)	W320R	probably damaging	Het
Mrgprx3-ps	T	A	7: 46,959,353 (GRCm39)	K213*	probably null	Het
Mslnl	T	G	17: 25,963,749 (GRCm39)	V388G	possibly damaging	Het
Nfkb1	T	C	3: 135,307,228 (GRCm39)	I566V	probably benign	Het
Npy1r	G	A	8: 67,156,873 (GRCm39)	V98I	probably benign	Het
Phf1	G	T	17: 27,153,247 (GRCm39)	A22S	probably benign	Het
Plcg1	T	G	2: 160,599,930 (GRCm39)	F897V	possibly damaging	Het
Ric1	A	T	19: 29,581,381 (GRCm39)	E1367D	probably benign	Het
Slc24a3	T	C	2: 145,482,130 (GRCm39)		probably benign	Het
Sorl1	A	G	9: 41,968,565 (GRCm39)		probably null	Het
Speer4a2	C	T	5: 26,290,700 (GRCm39)	S157N	probably damaging	Het
Syne2	A	G	12: 76,051,377 (GRCm39)	I4036V	possibly damaging	Het
Taok1	A	T	11: 77,429,030 (GRCm39)	M890K	possibly damaging	Het
Tenm2	A	T	11: 36,755,711 (GRCm39)	Y96N	probably damaging	Het
Ttll10	T	A	4: 156,131,351 (GRCm39)	T233S	probably benign	Het
Vps39	G	T	2: 120,154,079 (GRCm39)	L628M	probably benign	Het
Zfp563	G	A	17: 33,323,600 (GRCm39)	R105H	probably damaging	Het

Other mutations in Spink5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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	44,143,109 (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

2013-12-09