Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02554:Spink5'

298433

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02554

Quality Score

Status

Chromosome

Chromosomal Location

43963235-44022501 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44015594 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 908 (N908I)

Ref Sequence

ENSEMBL: ENSMUSP00000066214 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000069245
AA Change: N908I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000066214
Gene: ENSMUSG00000055561
AA Change: N908I

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933408B17Rik	A	G	18: 34,593,015	S112P	probably benign	Het
9930111J21Rik1	T	A	11: 48,948,003	M586L	probably damaging	Het
Abcg3	T	C	5: 104,969,452	D204G	possibly damaging	Het
Acox3	C	A	5: 35,608,366	L588I	probably damaging	Het
Adamts9	G	T	6: 92,880,847	L849I	probably benign	Het
Alkbh3	T	G	2: 93,996,347	T170P	probably damaging	Het
Anks1b	A	T	10: 90,921,378	H300L	probably damaging	Het
Arhgap29	T	C	3: 121,992,524		probably benign	Het
Cd86	C	T	16: 36,618,485	G181D	probably benign	Het
Cep68	A	T	11: 20,240,096	H305Q	possibly damaging	Het
Clptm1l	A	T	13: 73,607,760	D165V	probably benign	Het
Dctn1	T	C	6: 83,182,722	Y61H	probably damaging	Het
Dnah7a	A	T	1: 53,618,046	M857K	possibly damaging	Het
Gpr158	A	G	2: 21,826,596	M836V	probably benign	Het
Gria1	G	T	11: 57,289,488	A755S	possibly damaging	Het
Helb	G	A	10: 120,089,712	T920M	probably damaging	Het
Hr	T	C	14: 70,559,866		probably benign	Het
Igf2bp1	A	G	11: 95,974,168	S152P	probably damaging	Het
Iqsec1	T	C	6: 90,669,345	Y784C	probably damaging	Het
Ldah	T	A	12: 8,283,935	C275*	probably null	Het
Lpin3	T	C	2: 160,896,787	S220P	probably damaging	Het
Med23	T	C	10: 24,898,575		probably null	Het
Mllt1	T	C	17: 56,899,806	D346G	probably benign	Het
Myef2	A	C	2: 125,100,425		probably null	Het
Myh2	A	G	11: 67,189,165	S1095G	probably benign	Het
Nav1	A	G	1: 135,584,913		silent	Het
Olfr512	A	G	7: 108,713,742	M118V	possibly damaging	Het
Piwil2	G	A	14: 70,391,486		probably benign	Het
Pkhd1l1	T	A	15: 44,578,500	F3612I	probably damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
S100pbp	A	T	4: 129,181,851		probably null	Het
Scnn1b	T	C	7: 121,917,523	I495T	probably damaging	Het
Sgo2b	A	C	8: 63,926,537	V1087G	probably damaging	Het
Sil1	A	T	18: 35,348,733	V91E	probably damaging	Het
Slc5a4b	A	G	10: 76,110,851	I29T	possibly damaging	Het
Svopl	A	C	6: 38,017,043	I351S	probably damaging	Het
Syngr3	A	G	17: 24,686,328	V198A	probably benign	Het
Tbck	C	A	3: 132,751,192	Y622*	probably null	Het
Tex33	A	G	15: 78,378,536	M245T	possibly damaging	Het
Tkt	T	A	14: 30,558,780	M56K	probably damaging	Het
Trip10	T	C	17: 57,263,135	V544A	probably damaging	Het
Txndc16	T	C	14: 45,172,538	E195G	probably damaging	Het
Vmn2r69	G	A	7: 85,409,806	P516S	probably damaging	Het
Vmn2r74	T	C	7: 85,957,373	N255S	probably benign	Het
Xpo4	T	C	14: 57,590,088	T884A	probably benign	Het
Zdhhc2	A	G	8: 40,462,114	N167S	probably damaging	Het

Other mutations in Spink5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Spink5	APN	18	43987871	splice site	probably benign
IGL00332:Spink5	APN	18	43967044	missense	probably benign	0.00
IGL00501:Spink5	APN	18	43977739	missense	probably damaging	0.98
IGL00772:Spink5	APN	18	44006420	missense	probably benign	0.02
IGL00920:Spink5	APN	18	44003209	missense	probably damaging	1.00
IGL00980:Spink5	APN	18	44007710	missense	probably damaging	1.00
IGL01016:Spink5	APN	18	44007644	missense	probably damaging	1.00
IGL01155:Spink5	APN	18	43981147	missense	probably benign	0.01
IGL01374:Spink5	APN	18	43989404	missense	possibly damaging	0.74
IGL01629:Spink5	APN	18	43996610	splice site	probably benign
IGL01907:Spink5	APN	18	43996676	missense	probably damaging	1.00
IGL01931:Spink5	APN	18	44015638	missense	probably benign	0.02
IGL02237:Spink5	APN	18	44012867	missense	probably benign	0.03
IGL02306:Spink5	APN	18	43964444	missense	probably damaging	0.98
IGL02402:Spink5	APN	18	43967104	missense	probably damaging	1.00
IGL02425:Spink5	APN	18	43990744	critical splice donor site	probably null
IGL02552:Spink5	APN	18	43992168	missense	possibly damaging	0.80
IGL03066:Spink5	APN	18	44016390	missense	probably damaging	1.00
IGL03288:Spink5	APN	18	44014760	missense	possibly damaging	0.59
crusty2	UTSW	18	43999935	splice site	probably benign
R0079:Spink5	UTSW	18	43977764	missense	probably damaging	1.00
R0184:Spink5	UTSW	18	44003198	missense	probably benign	0.00
R0452:Spink5	UTSW	18	43963318	missense	possibly damaging	0.74
R0569:Spink5	UTSW	18	43989419	missense	probably damaging	1.00
R0639:Spink5	UTSW	18	44012975	splice site	probably null
R0648:Spink5	UTSW	18	43999797	splice site	probably benign
R0705:Spink5	UTSW	18	43992274	missense	probably benign	0.01
R1170:Spink5	UTSW	18	43983563	missense	probably benign	0.07
R1290:Spink5	UTSW	18	44007711	missense	probably damaging	0.99
R1345:Spink5	UTSW	18	43990682	missense	possibly damaging	0.88
R1458:Spink5	UTSW	18	44007719	missense	probably benign	0.01
R1530:Spink5	UTSW	18	44015671	missense	probably damaging	0.96
R1570:Spink5	UTSW	18	43967107	missense	probably benign	0.00
R1820:Spink5	UTSW	18	43989419	missense	possibly damaging	0.94
R1843:Spink5	UTSW	18	43999891	missense	probably benign	0.03
R1968:Spink5	UTSW	18	43990708	missense	probably benign	0.06
R2050:Spink5	UTSW	18	44007758	critical splice donor site	probably null
R2252:Spink5	UTSW	18	44020824	nonsense	probably null
R2278:Spink5	UTSW	18	43986329	missense	probably benign	0.07
R2279:Spink5	UTSW	18	43986329	missense	probably benign	0.07
R2696:Spink5	UTSW	18	43982292	missense	probably damaging	1.00
R2992:Spink5	UTSW	18	43996629	missense	probably damaging	1.00
R3422:Spink5	UTSW	18	44010244	missense	probably benign	0.01
R3934:Spink5	UTSW	18	44016427	missense	probably damaging	1.00
R4179:Spink5	UTSW	18	43987867	missense	probably benign
R4854:Spink5	UTSW	18	44020841	makesense	probably null
R5011:Spink5	UTSW	18	44006412	missense	probably damaging	0.97
R5133:Spink5	UTSW	18	43986423	missense	probably damaging	1.00
R5163:Spink5	UTSW	18	43999857	missense	possibly damaging	0.95
R5185:Spink5	UTSW	18	44015644	missense	probably damaging	0.97
R5187:Spink5	UTSW	18	43989451	missense	probably damaging	1.00
R5292:Spink5	UTSW	18	44006454	missense	probably benign
R5332:Spink5	UTSW	18	43992917	missense	possibly damaging	0.89
R5600:Spink5	UTSW	18	44018711	missense	probably damaging	0.96
R6267:Spink5	UTSW	18	44014757	missense	probably damaging	0.99
R6296:Spink5	UTSW	18	44014757	missense	probably damaging	0.99
R6373:Spink5	UTSW	18	43990672	missense	probably damaging	1.00
R6982:Spink5	UTSW	18	43977725	missense	probably damaging	1.00
R6982:Spink5	UTSW	18	44010042	splice site	probably null
R7332:Spink5	UTSW	18	43982250	missense	probably damaging	0.96
R7396:Spink5	UTSW	18	43977655	missense	possibly damaging	0.95
R7643:Spink5	UTSW	18	44010252	missense	probably benign	0.37
R7726:Spink5	UTSW	18	43963352	missense	probably damaging	1.00
R7828:Spink5	UTSW	18	44010229	missense	probably benign	0.15
R7836:Spink5	UTSW	18	43999821	missense	probably benign	0.00
R7880:Spink5	UTSW	18	43986326	missense	probably benign	0.40
R8031:Spink5	UTSW	18	44010236	missense	probably benign	0.07
R8198:Spink5	UTSW	18	43992880	missense	probably benign	0.17
R8361:Spink5	UTSW	18	43989462	missense	probably damaging	1.00
R8375:Spink5	UTSW	18	43990719	missense	probably benign	0.01
R8684:Spink5	UTSW	18	44010238	missense	probably benign	0.02
R8749:Spink5	UTSW	18	43989358	nonsense	probably null
Z1177:Spink5	UTSW	18	43996635	missense	probably damaging	0.97
Z1177:Spink5	UTSW	18	43996697	missense	probably damaging	1.00

Posted On

2015-04-16