Mutagenetix > Incidental Mutation

Incidental Mutation 'R5292:Spink5'

405225

Institutional Source

Beutler Lab

Gene Symbol

Spink5

Ensembl Gene

ENSMUSG00000055561

Gene Name

serine peptidase inhibitor, Kazal type 5

Synonyms

LEKT1, 2310065D10Rik

MMRRC Submission

042875-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5292 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44096302-44155568 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 44139521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 628 (P628Q)

Ref Sequence

ENSEMBL: ENSMUSP00000066214 (fasta)

Gene Model

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

AlphaFold

Q148R4

Predicted Effect

probably benign
Transcript: ENSMUST00000069245
AA Change: P628Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000066214
Gene: ENSMUSG00000055561
AA Change: P628Q

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

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	G	8: 25,354,467 (GRCm39)	V641A	possibly damaging	Het
Apob	A	T	12: 8,055,912 (GRCm39)	M1465L	probably benign	Het
Astn1	T	C	1: 158,407,933 (GRCm39)		probably null	Het
Bend7	G	A	2: 4,768,052 (GRCm39)	R336Q	probably damaging	Het
Col22a1	T	C	15: 71,842,185 (GRCm39)	Y433C	probably damaging	Het
Crtc3	T	C	7: 80,268,358 (GRCm39)	T154A	possibly damaging	Het
Dcc	T	C	18: 71,439,159 (GRCm39)	Y1241C	probably damaging	Het
Depdc1b	T	C	13: 108,510,376 (GRCm39)	V296A	probably damaging	Het
Gata3	A	G	2: 9,873,685 (GRCm39)	S270P	probably damaging	Het
Gcm1	T	C	9: 77,968,708 (GRCm39)	F136S	probably damaging	Het
Gfpt1	A	G	6: 87,053,237 (GRCm39)		probably null	Het
Gm5174	G	T	10: 86,492,562 (GRCm39)		noncoding transcript	Het
Hhipl1	A	G	12: 108,294,037 (GRCm39)	T648A	probably benign	Het
Hr	C	A	14: 70,809,432 (GRCm39)	Q1177K	probably damaging	Het
Hrnr	T	C	3: 93,239,199 (GRCm39)	S3146P	unknown	Het
Igkv10-94	C	T	6: 68,681,582 (GRCm39)	G86E	probably damaging	Het
Krt80	G	A	15: 101,250,066 (GRCm39)	R222W	probably damaging	Het
Lrch3	T	C	16: 32,796,177 (GRCm39)	Y354H	probably damaging	Het
Or10g1	A	T	14: 52,647,902 (GRCm39)	N142K	possibly damaging	Het
Or3a1b	T	A	11: 74,012,877 (GRCm39)	F254Y	probably damaging	Het
Or5w1b	T	A	2: 87,476,339 (GRCm39)	N43Y	probably damaging	Het
Osbpl7	A	G	11: 96,958,779 (GRCm39)	D932G	probably benign	Het
Pakap	T	G	4: 57,855,356 (GRCm39)	S471R	probably damaging	Het
Palmd	T	C	3: 116,717,393 (GRCm39)	E368G	probably benign	Het
Peg3	T	A	7: 6,711,259 (GRCm39)	D1321V	probably damaging	Het
Pkhd1l1	A	T	15: 44,392,962 (GRCm39)	I1766F	probably damaging	Het
Polq	A	G	16: 36,881,745 (GRCm39)	E1303G	probably damaging	Het
Ppie	A	G	4: 123,033,701 (GRCm39)	Y9H	probably damaging	Het
Ptprz1	A	G	6: 23,002,581 (GRCm39)	N1557S	probably benign	Het
Rnf40	T	C	7: 127,195,120 (GRCm39)	V411A	possibly damaging	Het
Rtn4	T	C	11: 29,657,924 (GRCm39)	F577L	probably benign	Het
Sacs	A	G	14: 61,449,432 (GRCm39)	Y3826C	probably damaging	Het
Slc32a1	A	G	2: 158,453,307 (GRCm39)	D49G	probably damaging	Het
Slc37a2	A	T	9: 37,150,453 (GRCm39)	C167*	probably null	Het
Slc5a1	G	T	5: 33,315,585 (GRCm39)	V535F	probably benign	Het
Smoc2	A	G	17: 14,556,835 (GRCm39)	K95E	probably damaging	Het
Smok3c	A	C	5: 138,063,446 (GRCm39)	Q311P	probably damaging	Het
Spint4	T	C	2: 164,542,779 (GRCm39)	L124S	probably benign	Het
Stard9	A	G	2: 120,529,626 (GRCm39)	K1961R	probably benign	Het
Synpo2	C	A	3: 122,907,709 (GRCm39)	V536L	possibly damaging	Het
Trim24	A	G	6: 37,880,539 (GRCm39)	K146E	probably benign	Het
Usp24	A	G	4: 106,275,460 (GRCm39)	D2245G	probably benign	Het
Vars2	A	G	17: 35,971,678 (GRCm39)	S81P	probably damaging	Het
Zfp39	T	C	11: 58,791,415 (GRCm39)	T91A	probably damaging	Het
Zfp764l1	T	C	7: 126,991,659 (GRCm39)	D97G	possibly damaging	Het
Zfp936	T	A	7: 42,838,759 (GRCm39)	Y75*	probably null	Het
Zkscan5	G	T	5: 145,155,451 (GRCm39)	C374F	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCACAGAATTCATCTCGGGC -3'
(R):5'- AATGCCAATGCTTTGACGG -3'

Sequencing Primer
(F):5'- CAGAATTCATCTCGGGCATTTTACG -3'
(R):5'- CCAATGCTTTGACGGGACAG -3'

Posted On

2016-07-22