Mutagenetix > Incidental Mutation

Incidental Mutation 'R1843:Spink5'

207492

Institutional Source

Beutler Lab

Gene Symbol

Spink5

Ensembl Gene

ENSMUSG00000055561

Gene Name

serine peptidase inhibitor, Kazal type 5

Synonyms

2310065D10Rik, LEKT1

MMRRC Submission

039868-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1843 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43963235-44022501 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43999891 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 525 (M525L)

Ref Sequence

ENSEMBL: ENSMUSP00000066214 (fasta)

Gene Model

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

AlphaFold

Q148R4

Predicted Effect

probably benign
Transcript: ENSMUST00000069245
AA Change: M525L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000066214
Gene: ENSMUSG00000055561
AA Change: M525L

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: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	C	T	8: 105,708,974 (GRCm38)	T88M	probably damaging	Het
9130011E15Rik	A	C	19: 45,975,252 (GRCm38)	S42R	probably benign	Het
9430038I01Rik	A	G	7: 137,377,066 (GRCm38)		probably benign	Het
Adgra3	A	C	5: 49,961,492 (GRCm38)	S905A	probably damaging	Het
Adgrv1	A	G	13: 81,544,533 (GRCm38)	Y1618H	probably damaging	Het
Anapc15-ps	T	C	10: 95,673,314 (GRCm38)	T26A	probably benign	Het
Ankrd13d	T	C	19: 4,271,595 (GRCm38)	K360E	probably damaging	Het
Anks1b	T	A	10: 90,512,889 (GRCm38)		probably null	Het
Apob	T	C	12: 8,007,602 (GRCm38)	F2028S	possibly damaging	Het
Arap3	G	A	18: 37,975,583 (GRCm38)	R1265W	probably damaging	Het
Arhgef37	A	G	18: 61,518,050 (GRCm38)	Y135H	probably damaging	Het
Atp1a1	T	C	3: 101,582,017 (GRCm38)	T760A	probably benign	Het
Cdc42bpb	T	A	12: 111,322,821 (GRCm38)	M497L	probably benign	Het
Ces5a	C	T	8: 93,514,231 (GRCm38)	V413M	probably damaging	Het
Chd5	A	T	4: 152,385,806 (GRCm38)	Y1903F	probably damaging	Het
Chd9	T	A	8: 91,010,794 (GRCm38)	N1500K	probably benign	Het
Chmp7	G	T	14: 69,719,799 (GRCm38)	D303E	probably benign	Het
Chrnb4	A	T	9: 55,034,818 (GRCm38)	Y391N	possibly damaging	Het
Crtc1	T	C	8: 70,388,152 (GRCm38)	T475A	probably benign	Het
Cyp2c69	A	G	19: 39,877,528 (GRCm38)	I207T	probably benign	Het
Dcp1a	A	G	14: 30,518,983 (GRCm38)	E250G	probably damaging	Het
Ddx20	T	C	3: 105,679,082 (GRCm38)	Q649R	probably benign	Het
Defb12	T	A	8: 19,112,738 (GRCm38)	K59N	probably damaging	Het
Dpy19l3	A	T	7: 35,729,760 (GRCm38)	I85N	probably damaging	Het
Duox2	C	T	2: 122,292,258 (GRCm38)		probably null	Het
E430018J23Rik	A	C	7: 127,391,488 (GRCm38)	D442E	probably benign	Het
Ebi3	T	A	17: 55,956,679 (GRCm38)	Y197N	probably damaging	Het
Emc1	G	A	4: 139,375,512 (GRCm38)	R994Q	probably benign	Het
Ercc6	G	T	14: 32,546,820 (GRCm38)	M530I	probably damaging	Het
Evl	T	A	12: 108,652,996 (GRCm38)	D70E	probably damaging	Het
Fam35a	A	G	14: 34,267,803 (GRCm38)	I382T	probably benign	Het
Fbln2	A	G	6: 91,265,775 (GRCm38)	N819S	probably damaging	Het
Foxk2	A	G	11: 121,285,537 (GRCm38)	I170V	probably benign	Het
Gfm1	T	C	3: 67,435,610 (GRCm38)	V159A	probably damaging	Het
Gm10837	A	G	14: 122,490,765 (GRCm38)	T18A	unknown	Het
Gm12887	A	T	4: 121,622,030 (GRCm38)	V25E	probably damaging	Het
Hectd4	A	G	5: 121,297,180 (GRCm38)	H985R	possibly damaging	Het
Hsfy2	A	G	1: 56,636,632 (GRCm38)	Y249H	possibly damaging	Het
Hspg2	T	C	4: 137,545,567 (GRCm38)	V2639A	probably damaging	Het
Igf2r	A	G	17: 12,704,270 (GRCm38)		probably null	Het
Invs	T	A	4: 48,422,035 (GRCm38)	I889N	probably damaging	Het
Kcnq1	A	T	7: 143,183,120 (GRCm38)	M209L	probably benign	Het
Klra7	A	G	6: 130,229,994 (GRCm38)	I48T	possibly damaging	Het
Krt26	CTAGTA	CTA	11: 99,333,526 (GRCm38)		probably benign	Het
Lrif1	T	A	3: 106,732,811 (GRCm38)	V404D	probably damaging	Het
Lrriq1	T	A	10: 103,227,173 (GRCm38)		probably null	Het
Lypd6	T	A	2: 50,188,762 (GRCm38)	I90N	possibly damaging	Het
Mbp	A	G	18: 82,584,122 (GRCm38)	D174G	probably damaging	Het
Megf9	G	T	4: 70,534,785 (GRCm38)	P13Q	probably damaging	Het
Myo15b	A	T	11: 115,869,586 (GRCm38)	T1155S	probably benign	Het
Nlrp6	T	A	7: 140,923,093 (GRCm38)	C371S	probably damaging	Het
Nosip	T	A	7: 45,077,309 (GRCm38)		probably null	Het
Nox3	G	T	17: 3,669,878 (GRCm38)	P344H	probably damaging	Het
Nup210l	T	C	3: 90,172,086 (GRCm38)	V959A	probably damaging	Het
Olfr1360	C	A	13: 21,674,672 (GRCm38)	V91L	probably benign	Het
Olfr1475	A	G	19: 13,479,931 (GRCm38)	I89T	probably benign	Het
Olfr175-ps1	T	A	16: 58,824,077 (GRCm38)	I211F	probably damaging	Het
Olfr267	T	C	4: 58,785,384 (GRCm38)	I113V	probably benign	Het
Olfr959	A	G	9: 39,572,735 (GRCm38)	Y175H	possibly damaging	Het
Osbpl3	A	C	6: 50,370,143 (GRCm38)	S25A	probably damaging	Het
Otog	G	A	7: 46,246,283 (GRCm38)	C107Y	probably damaging	Het
Pax7	G	A	4: 139,784,491 (GRCm38)	R260C	probably damaging	Het
Pbrm1	A	T	14: 31,038,957 (GRCm38)	I224F	probably damaging	Het
Pcdh1	T	A	18: 38,192,225 (GRCm38)		probably null	Het
Pcnx	T	C	12: 81,980,935 (GRCm38)	L1585P	probably damaging	Het
Pde4c	C	T	8: 70,747,950 (GRCm38)	H362Y	probably damaging	Het
Pdlim2	C	T	14: 70,164,779 (GRCm38)	R296H	probably damaging	Het
Pgm2	A	T	4: 99,961,478 (GRCm38)	Q90L	probably damaging	Het
Phlpp1	A	G	1: 106,343,505 (GRCm38)	H814R	probably benign	Het
Pknox2	A	T	9: 36,954,831 (GRCm38)	M5K	possibly damaging	Het
Pole	G	A	5: 110,330,835 (GRCm38)		probably null	Het
Polr1b	A	G	2: 129,102,966 (GRCm38)	I61V	probably benign	Het
Prelp	T	C	1: 133,914,757 (GRCm38)	K217E	probably damaging	Het
Prkce	C	T	17: 86,475,546 (GRCm38)	Q202*	probably null	Het
Psmd2	T	G	16: 20,656,582 (GRCm38)	M370R	probably benign	Het
Rimklb	A	T	6: 122,464,009 (GRCm38)	H68Q	probably damaging	Het
Rnasel	A	G	1: 153,754,674 (GRCm38)	D312G	possibly damaging	Het
Rxrg	A	T	1: 167,598,752 (GRCm38)	M1L	probably benign	Het
Scrn1	A	G	6: 54,522,841 (GRCm38)	F220L	possibly damaging	Het
Scyl3	A	G	1: 163,950,675 (GRCm38)	S461G	probably benign	Het
Serpina1c	T	A	12: 103,895,023 (GRCm38)	T411S	probably benign	Het
Serpinb6d	C	T	13: 33,671,381 (GRCm38)	P346L	probably benign	Het
Slc9a3r2	C	T	17: 24,641,719 (GRCm38)	S150N	possibly damaging	Het
Spg21	G	T	9: 65,465,336 (GRCm38)	V17F	probably damaging	Het
Sun2	T	C	15: 79,737,563 (GRCm38)	T155A	probably benign	Het
Tchh	T	A	3: 93,446,780 (GRCm38)	F1176I	unknown	Het
Tex15	T	A	8: 33,576,654 (GRCm38)	D2037E	probably benign	Het
Tfdp2	T	C	9: 96,317,804 (GRCm38)	C392R	possibly damaging	Het
Tmem30c	T	C	16: 57,276,780 (GRCm38)	N139S	probably benign	Het
Tns2	C	T	15: 102,113,133 (GRCm38)		probably null	Het
Trim66	T	C	7: 109,475,839 (GRCm38)	E405G	probably damaging	Het
Trpc4	T	A	3: 54,279,994 (GRCm38)	F456I	probably benign	Het
Tspo2	T	C	17: 48,448,790 (GRCm38)	D108G	possibly damaging	Het
Tyk2	A	T	9: 21,121,554 (GRCm38)	C304*	probably null	Het
Vgll4	A	T	6: 114,862,795 (GRCm38)	S185T	probably benign	Het
Vmn2r94	A	C	17: 18,244,470 (GRCm38)	S519R	probably benign	Het
Vmn2r96	T	G	17: 18,597,921 (GRCm38)	S587A	probably benign	Het
Vps4b	C	A	1: 106,778,982 (GRCm38)	A287S	possibly damaging	Het
Yeats2	C	T	16: 20,229,564 (GRCm38)	P1332S	probably benign	Het
Zfp462	T	G	4: 55,010,010 (GRCm38)	S659A	possibly damaging	Het
Zfp507	C	T	7: 35,793,725 (GRCm38)	R631Q	probably damaging	Het
Zswim5	G	T	4: 116,877,699 (GRCm38)	E80D	unknown	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
IGL01374:Spink5	APN	18	43,989,404 (GRCm38)	missense	possibly damaging	0.74
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
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

Predicted Primers

PCR Primer
(F):5'- TAGTGGCTAAAGCTGATATCTGAC -3'
(R):5'- AAGTACTGTCAGTGTGTGGC -3'

Sequencing Primer
(F):5'- GCACATCACAGTTTTCAAAGGG -3'
(R):5'- GTGGCTTGATGATAATATACCCTGCC -3'

Posted On

2014-06-23