Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01374:Spink5'

78667

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spink5

Ensembl Gene

ENSMUSG00000055561

Gene Name

serine peptidase inhibitor, Kazal type 5

Synonyms

2310065D10Rik, LEKT1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01374

Quality Score

Status

Chromosome

Chromosomal Location

43963235-44022501 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43989404 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 312 (F312Y)

Ref Sequence

ENSEMBL: ENSMUSP00000066214 (fasta)

Gene Model

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

AlphaFold

Q148R4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069245
AA Change: F312Y

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000066214
Gene: ENSMUSG00000055561
AA Change: F312Y

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	C	7: 131,146,101 (GRCm38)	H54R	probably benign	Het
Acsl6	T	C	11: 54,338,419 (GRCm38)	V359A	probably damaging	Het
Aldh3a2	C	T	11: 61,249,002 (GRCm38)	V435I	probably benign	Het
Atm	A	T	9: 53,531,724 (GRCm38)	S80T	possibly damaging	Het
Atp8b4	A	T	2: 126,383,657 (GRCm38)		probably benign	Het
Atxn1	T	C	13: 45,568,427 (GRCm38)		probably benign	Het
Chd3	T	C	11: 69,359,980 (GRCm38)	E641G	probably damaging	Het
Clpb	T	C	7: 101,773,128 (GRCm38)	V346A	probably damaging	Het
Ctnnbl1	T	A	2: 157,836,693 (GRCm38)		probably null	Het
Cyp2b19	C	T	7: 26,759,079 (GRCm38)	P73L	probably benign	Het
Dcc	T	C	18: 71,374,553 (GRCm38)	Y916C	probably damaging	Het
Fat4	A	G	3: 38,887,498 (GRCm38)	N180S	probably damaging	Het
Foxi1	A	C	11: 34,207,984 (GRCm38)	C14G	probably damaging	Het
Fut4	G	T	9: 14,751,490 (GRCm38)	F169L	probably benign	Het
Grip1	T	C	10: 120,049,368 (GRCm38)	S748P	probably benign	Het
Hnrnpr	T	C	4: 136,327,418 (GRCm38)		probably benign	Het
Ifnz	G	A	4: 88,783,341 (GRCm38)		probably benign	Het
Krt28	A	G	11: 99,371,468 (GRCm38)	V232A	probably benign	Het
Lyar	C	A	5: 38,228,047 (GRCm38)		probably null	Het
Manba	G	A	3: 135,554,780 (GRCm38)	W575*	probably null	Het
Morc3	T	A	16: 93,844,213 (GRCm38)	D44E	probably damaging	Het
Mrc2	T	A	11: 105,347,643 (GRCm38)	Y1205*	probably null	Het
Myh2	A	T	11: 67,177,424 (GRCm38)	T293S	probably benign	Het
Nlrp10	T	A	7: 108,924,581 (GRCm38)	K564I	possibly damaging	Het
Nuak1	A	G	10: 84,374,668 (GRCm38)	S519P	probably damaging	Het
Olfr1158	T	C	2: 87,990,548 (GRCm38)	F146L	probably benign	Het
Olfr358	T	C	2: 37,004,930 (GRCm38)	H228R	probably benign	Het
Padi2	T	A	4: 140,933,185 (GRCm38)	N325K	probably damaging	Het
Pcdhb19	A	T	18: 37,497,989 (GRCm38)	Y279F	probably damaging	Het
Phldb1	A	G	9: 44,696,167 (GRCm38)	L1247P	probably damaging	Het
Rmdn3	A	G	2: 119,153,947 (GRCm38)	V108A	probably damaging	Het
Slc22a5	A	G	11: 53,867,664 (GRCm38)	F437L	probably benign	Het
Slc3a2	C	T	19: 8,713,337 (GRCm38)		probably null	Het
Slc5a3	T	A	16: 92,077,118 (GRCm38)	M21K	probably benign	Het
Stab1	T	C	14: 31,147,075 (GRCm38)	Y1531C	probably damaging	Het
Tln2	C	A	9: 67,261,923 (GRCm38)	A433S	probably damaging	Het
Usp24	C	T	4: 106,380,099 (GRCm38)	L1076F	possibly damaging	Het
Vmn2r117	T	C	17: 23,478,382 (GRCm38)	Y112C	possibly damaging	Het
Vmn2r16	C	T	5: 109,330,417 (GRCm38)	L13F	probably benign	Het
Vmn2r76	T	C	7: 86,225,649 (GRCm38)	M707V	probably benign	Het
Zmym4	A	T	4: 126,868,957 (GRCm38)	F1358I	probably damaging	Het

Other mutations in Spink5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Spink5	APN	18	43,987,871 (GRCm38)	splice site	probably benign
IGL00332:Spink5	APN	18	43,967,044 (GRCm38)	missense	probably benign	0.00
IGL00501:Spink5	APN	18	43,977,739 (GRCm38)	missense	probably damaging	0.98
IGL00772:Spink5	APN	18	44,006,420 (GRCm38)	missense	probably benign	0.02
IGL00920:Spink5	APN	18	44,003,209 (GRCm38)	missense	probably damaging	1.00
IGL00980:Spink5	APN	18	44,007,710 (GRCm38)	missense	probably damaging	1.00
IGL01016:Spink5	APN	18	44,007,644 (GRCm38)	missense	probably damaging	1.00
IGL01155:Spink5	APN	18	43,981,147 (GRCm38)	missense	probably benign	0.01
IGL01629:Spink5	APN	18	43,996,610 (GRCm38)	splice site	probably benign
IGL01907:Spink5	APN	18	43,996,676 (GRCm38)	missense	probably damaging	1.00
IGL01931:Spink5	APN	18	44,015,638 (GRCm38)	missense	probably benign	0.02
IGL02237:Spink5	APN	18	44,012,867 (GRCm38)	missense	probably benign	0.03
IGL02306:Spink5	APN	18	43,964,444 (GRCm38)	missense	probably damaging	0.98
IGL02402:Spink5	APN	18	43,967,104 (GRCm38)	missense	probably damaging	1.00
IGL02425:Spink5	APN	18	43,990,744 (GRCm38)	critical splice donor site	probably null
IGL02552:Spink5	APN	18	43,992,168 (GRCm38)	missense	possibly damaging	0.80
IGL02554:Spink5	APN	18	44,015,594 (GRCm38)	missense	probably benign	0.01
IGL03066:Spink5	APN	18	44,016,390 (GRCm38)	missense	probably damaging	1.00
IGL03288:Spink5	APN	18	44,014,760 (GRCm38)	missense	possibly damaging	0.59
crusty2	UTSW	18	43,999,934 (GRCm38)	splice site	probably benign
R0079:Spink5	UTSW	18	43,977,764 (GRCm38)	missense	probably damaging	1.00
R0184:Spink5	UTSW	18	44,003,198 (GRCm38)	missense	probably benign	0.00
R0452:Spink5	UTSW	18	43,963,318 (GRCm38)	missense	possibly damaging	0.74
R0569:Spink5	UTSW	18	43,989,419 (GRCm38)	missense	probably damaging	1.00
R0639:Spink5	UTSW	18	44,012,975 (GRCm38)	splice site	probably null
R0648:Spink5	UTSW	18	43,999,797 (GRCm38)	splice site	probably benign
R0705:Spink5	UTSW	18	43,992,274 (GRCm38)	missense	probably benign	0.01
R1170:Spink5	UTSW	18	43,983,563 (GRCm38)	missense	probably benign	0.07
R1290:Spink5	UTSW	18	44,007,711 (GRCm38)	missense	probably damaging	0.99
R1345:Spink5	UTSW	18	43,990,682 (GRCm38)	missense	possibly damaging	0.88
R1458:Spink5	UTSW	18	44,007,719 (GRCm38)	missense	probably benign	0.01
R1530:Spink5	UTSW	18	44,015,671 (GRCm38)	missense	probably damaging	0.96
R1570:Spink5	UTSW	18	43,967,107 (GRCm38)	missense	probably benign	0.00
R1820:Spink5	UTSW	18	43,989,419 (GRCm38)	missense	possibly damaging	0.94
R1843:Spink5	UTSW	18	43,999,891 (GRCm38)	missense	probably benign	0.03
R1968:Spink5	UTSW	18	43,990,708 (GRCm38)	missense	probably benign	0.06
R2050:Spink5	UTSW	18	44,007,758 (GRCm38)	critical splice donor site	probably null
R2252:Spink5	UTSW	18	44,020,824 (GRCm38)	nonsense	probably null
R2278:Spink5	UTSW	18	43,986,329 (GRCm38)	missense	probably benign	0.07
R2279:Spink5	UTSW	18	43,986,329 (GRCm38)	missense	probably benign	0.07
R2696:Spink5	UTSW	18	43,982,292 (GRCm38)	missense	probably damaging	1.00
R2992:Spink5	UTSW	18	43,996,629 (GRCm38)	missense	probably damaging	1.00
R3422:Spink5	UTSW	18	44,010,244 (GRCm38)	missense	probably benign	0.01
R3934:Spink5	UTSW	18	44,016,427 (GRCm38)	missense	probably damaging	1.00
R4179:Spink5	UTSW	18	43,987,867 (GRCm38)	missense	probably benign
R4854:Spink5	UTSW	18	44,020,841 (GRCm38)	makesense	probably null
R5011:Spink5	UTSW	18	44,006,412 (GRCm38)	missense	probably damaging	0.97
R5133:Spink5	UTSW	18	43,986,423 (GRCm38)	missense	probably damaging	1.00
R5163:Spink5	UTSW	18	43,999,857 (GRCm38)	missense	possibly damaging	0.95
R5185:Spink5	UTSW	18	44,015,644 (GRCm38)	missense	probably damaging	0.97
R5187:Spink5	UTSW	18	43,989,451 (GRCm38)	missense	probably damaging	1.00
R5292:Spink5	UTSW	18	44,006,454 (GRCm38)	missense	probably benign
R5332:Spink5	UTSW	18	43,992,917 (GRCm38)	missense	possibly damaging	0.89
R5600:Spink5	UTSW	18	44,018,711 (GRCm38)	missense	probably damaging	0.96
R6267:Spink5	UTSW	18	44,014,757 (GRCm38)	missense	probably damaging	0.99
R6296:Spink5	UTSW	18	44,014,757 (GRCm38)	missense	probably damaging	0.99
R6373:Spink5	UTSW	18	43,990,672 (GRCm38)	missense	probably damaging	1.00
R6982:Spink5	UTSW	18	44,010,042 (GRCm38)	splice site	probably null
R6982:Spink5	UTSW	18	43,977,725 (GRCm38)	missense	probably damaging	1.00
R7332:Spink5	UTSW	18	43,982,250 (GRCm38)	missense	probably damaging	0.96
R7396:Spink5	UTSW	18	43,977,655 (GRCm38)	missense	possibly damaging	0.95
R7643:Spink5	UTSW	18	44,010,252 (GRCm38)	missense	probably benign	0.37
R7726:Spink5	UTSW	18	43,963,352 (GRCm38)	missense	probably damaging	1.00
R7828:Spink5	UTSW	18	44,010,229 (GRCm38)	missense	probably benign	0.15
R7836:Spink5	UTSW	18	43,999,821 (GRCm38)	missense	probably benign	0.00
R7880:Spink5	UTSW	18	43,986,326 (GRCm38)	missense	probably benign	0.40
R8031:Spink5	UTSW	18	44,010,236 (GRCm38)	missense	probably benign	0.07
R8198:Spink5	UTSW	18	43,992,880 (GRCm38)	missense	probably benign	0.17
R8361:Spink5	UTSW	18	43,989,462 (GRCm38)	missense	probably damaging	1.00
R8375:Spink5	UTSW	18	43,990,719 (GRCm38)	missense	probably benign	0.01
R8684:Spink5	UTSW	18	44,010,238 (GRCm38)	missense	probably benign	0.02
R8749:Spink5	UTSW	18	43,989,358 (GRCm38)	nonsense	probably null
R8918:Spink5	UTSW	18	43,967,020 (GRCm38)	missense	probably damaging	0.98
R9064:Spink5	UTSW	18	43,967,126 (GRCm38)	missense	probably damaging	1.00
R9161:Spink5	UTSW	18	44,014,919 (GRCm38)	missense	probably damaging	1.00
R9221:Spink5	UTSW	18	43,986,300 (GRCm38)	missense	probably damaging	1.00
R9292:Spink5	UTSW	18	44,015,008 (GRCm38)	missense	possibly damaging	0.91
R9545:Spink5	UTSW	18	44,003,195 (GRCm38)	missense	possibly damaging	0.88
R9784:Spink5	UTSW	18	43,986,423 (GRCm38)	missense	probably damaging	1.00
Z1177:Spink5	UTSW	18	43,996,697 (GRCm38)	missense	probably damaging	1.00
Z1177:Spink5	UTSW	18	43,996,635 (GRCm38)	missense	probably damaging	0.97

Posted On

2013-11-05