Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02402:Spink5'

291908

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 #

IGL02402

Quality Score

Status

Chromosome

Chromosomal Location

44096302-44155568 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44100171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 63 (C63S)

Ref Sequence

ENSEMBL: ENSMUSP00000066214 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069245]

AlphaFold

Q148R4

Predicted Effect

probably damaging
Transcript: ENSMUST00000069245
AA Change: C63S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066214
Gene: ENSMUSG00000055561
AA Change: C63S

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,707,543 (GRCm39)	F568L	probably benign	Het
AW112010	T	A	19: 11,025,741 (GRCm39)		noncoding transcript	Het
Bbs4	A	T	9: 59,237,729 (GRCm39)	L205H	probably benign	Het
Bmal2	T	C	6: 146,711,266 (GRCm39)	V90A	possibly damaging	Het
C2cd2l	T	C	9: 44,227,878 (GRCm39)	K121R	probably benign	Het
Car14	A	G	3: 95,806,870 (GRCm39)	V198A	possibly damaging	Het
Cd22	G	T	7: 30,576,955 (GRCm39)	H117Q	possibly damaging	Het
Celf1	T	A	2: 90,829,068 (GRCm39)	I45N	probably damaging	Het
Cluh	T	C	11: 74,547,997 (GRCm39)	S103P	probably damaging	Het
Cyp39a1	T	A	17: 44,002,613 (GRCm39)	L276Q	probably benign	Het
Ddx27	T	G	2: 166,857,245 (GRCm39)		probably benign	Het
Defb4	A	T	8: 19,251,279 (GRCm39)	I49F	possibly damaging	Het
Dock8	C	A	19: 25,055,509 (GRCm39)	T157K	probably benign	Het
Dpp6	T	C	5: 27,839,541 (GRCm39)	V352A	probably damaging	Het
Elmo2	C	T	2: 165,139,312 (GRCm39)	E412K	probably damaging	Het
Eme1	G	A	11: 94,541,733 (GRCm39)	P30S	possibly damaging	Het
Espnl	G	T	1: 91,272,535 (GRCm39)	A632S	probably benign	Het
Gfod1	C	A	13: 43,354,211 (GRCm39)	A255S	probably benign	Het
Helz2	T	A	2: 180,872,704 (GRCm39)	K2432M	probably damaging	Het
Idua	T	C	5: 108,827,657 (GRCm39)	L157P	probably damaging	Het
Ifi207	T	A	1: 173,555,159 (GRCm39)	D848V	probably damaging	Het
Jag1	C	T	2: 136,927,858 (GRCm39)	S851N	possibly damaging	Het
Kat6b	T	A	14: 21,681,415 (GRCm39)	F571I	probably damaging	Het
Lrrc74b	G	A	16: 17,376,028 (GRCm39)		probably benign	Het
Mst1r	A	G	9: 107,794,026 (GRCm39)	K1160E	probably damaging	Het
Muc19	C	A	15: 91,778,192 (GRCm39)		noncoding transcript	Het
Nrg4	G	A	9: 55,135,198 (GRCm39)		probably benign	Het
Ociad1	T	C	5: 73,458,037 (GRCm39)	I12T	possibly damaging	Het
Or1o3	A	G	17: 37,574,111 (GRCm39)	V148A	possibly damaging	Het
Pold3	A	G	7: 99,749,618 (GRCm39)		probably benign	Het
Psmd5	T	C	2: 34,747,784 (GRCm39)	E291G	probably damaging	Het
Ptpn23	A	G	9: 110,222,781 (GRCm39)	V92A	possibly damaging	Het
Rab44	T	A	17: 29,359,490 (GRCm39)	H559Q	probably benign	Het
Rbm6	T	C	9: 107,730,051 (GRCm39)	D199G	probably damaging	Het
Rps18-ps3	C	T	8: 107,989,754 (GRCm39)		noncoding transcript	Het
Septin10	T	C	10: 59,006,758 (GRCm39)	T93A	probably benign	Het
Slmap	T	C	14: 26,184,865 (GRCm39)	T111A	probably damaging	Het
Spata25	C	T	2: 164,670,377 (GRCm39)	M1I	probably null	Het
Sycp3	T	C	10: 88,302,425 (GRCm39)		probably benign	Het
Tarbp1	A	G	8: 127,177,567 (GRCm39)		probably benign	Het
Thbs2	A	T	17: 14,891,716 (GRCm39)	N940K	probably benign	Het
Tmem106b	A	T	6: 13,081,600 (GRCm39)	Q169L	possibly damaging	Het
Trpm6	G	T	19: 18,764,120 (GRCm39)	C242F	probably benign	Het
Ush2a	T	A	1: 187,999,305 (GRCm39)	M205K	probably benign	Het
Utp18	A	C	11: 93,774,617 (GRCm39)		probably benign	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
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
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

2015-04-16