Mutagenetix > Incidental Mutation

Incidental Mutation 'R6373:Spink5'

513647

Institutional Source

Beutler Lab

Gene Symbol

Spink5

Ensembl Gene

ENSMUSG00000055561

Gene Name

serine peptidase inhibitor, Kazal type 5

Synonyms

LEKT1, 2310065D10Rik

MMRRC Submission

044523-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6373 (G1)

Quality Score

207.009

Status

Validated

Chromosome

Chromosomal Location

44096302-44155568 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44123739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 342 (E342G)

Ref Sequence

ENSEMBL: ENSMUSP00000066214 (fasta)

Gene Model

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

AlphaFold

Q148R4

Predicted Effect

probably damaging
Transcript: ENSMUST00000069245
AA Change: E342G

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

SMART Domains

Protein: ENSMUSP00000066214
Gene: ENSMUSG00000055561
AA Change: E342G

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

Meta Mutation Damage Score

0.5367

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

95% (37/39)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	T	C	8: 10,038,240 (GRCm39)	L279P	probably damaging	Het
Aldh16a1	C	G	7: 44,795,695 (GRCm39)	V373L	probably benign	Het
Btn2a2	T	C	13: 23,665,999 (GRCm39)	K278E	probably benign	Het
Carns1	G	T	19: 4,216,515 (GRCm39)	Q556K	probably benign	Het
Chd1	A	T	17: 15,958,898 (GRCm39)	E650V	probably damaging	Het
Cobl	A	G	11: 12,203,118 (GRCm39)	S1195P	probably damaging	Het
Deup1	T	C	9: 15,472,638 (GRCm39)	H464R	probably damaging	Het
Eva1a	T	C	6: 82,068,847 (GRCm39)	L58S	probably damaging	Het
Fign	A	C	2: 63,809,989 (GRCm39)	M427R	probably benign	Het
Gm6309	A	T	5: 146,107,085 (GRCm39)	I87N	probably damaging	Het
H2ac7	A	G	13: 23,759,027 (GRCm39)	K128R	probably benign	Het
Helz	A	G	11: 107,486,010 (GRCm39)	T140A	probably benign	Het
Helz2	C	T	2: 180,875,260 (GRCm39)	E1745K	probably damaging	Het
Kif16b	A	T	2: 142,541,618 (GRCm39)	H1227Q	possibly damaging	Het
Mab21l1	A	T	3: 55,690,505 (GRCm39)	I31F	possibly damaging	Het
Mex3c	T	C	18: 73,723,065 (GRCm39)	M386T	probably benign	Het
Myh11	T	A	16: 14,022,994 (GRCm39)	I1644F	possibly damaging	Het
Nav2	C	T	7: 49,102,923 (GRCm39)	P513S	probably damaging	Het
Ncoa3	C	T	2: 165,901,267 (GRCm39)	S953F	possibly damaging	Het
Nmt2	A	G	2: 3,325,988 (GRCm39)	T462A	probably benign	Het
Nrxn2	T	C	19: 6,559,860 (GRCm39)	I163T	probably damaging	Het
Nrxn3	G	C	12: 89,943,237 (GRCm39)	G122R	probably damaging	Het
Or1e26	A	G	11: 73,479,724 (GRCm39)	V280A	probably benign	Het
Or5d20-ps1	T	C	2: 87,932,189 (GRCm39)	I47M	possibly damaging	Het
Parg	T	G	14: 31,931,454 (GRCm39)		probably null	Het
Pcdhb7	T	A	18: 37,475,264 (GRCm39)	C133*	probably null	Het
Ppihl	A	G	5: 44,070,893 (GRCm39)	T127A	probably damaging	Het
Rigi	A	G	4: 40,216,487 (GRCm39)	Y504H	possibly damaging	Het
Rpe	T	C	1: 66,755,139 (GRCm39)	F174L	probably benign	Het
Rxrb	A	G	17: 34,252,533 (GRCm39)	N40S	probably benign	Het
Ryr3	C	A	2: 112,486,889 (GRCm39)	G3840W	probably damaging	Het
Smurf2	A	G	11: 106,724,595 (GRCm39)	L529P	probably damaging	Het
Sntg2	C	T	12: 30,308,040 (GRCm39)	R215H	probably benign	Het
Spata20	A	G	11: 94,374,226 (GRCm39)	V348A	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Syce1l	T	A	8: 114,376,143 (GRCm39)	M31K	probably benign	Het
Ttn	C	T	2: 76,618,960 (GRCm39)	V14394I	probably damaging	Het
Twnk	G	A	19: 44,997,820 (GRCm39)	V450M	probably damaging	Het
Vangl1	T	C	3: 102,065,764 (GRCm39)	K407R	probably benign	Het
Vmn1r19	T	C	6: 57,382,317 (GRCm39)	I290T	unknown	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATGTCATAGGATGTCAGCTTATTGG -3'
(R):5'- GTCTCTTAACAGGAAGAATGAATCCG -3'

Sequencing Primer
(F):5'- ATAGGATGTCAGCTTATTGGAAGTAG -3'
(R):5'- TGAATCCGTTTCATACAATGCTC -3'

Posted On

2018-04-27