Mutagenetix > Incidental Mutation

Incidental Mutation 'R4969:Krt75'

384305

Institutional Source

Beutler Lab

Gene Symbol

Krt75

Ensembl Gene

ENSMUSG00000022986

Gene Name

keratin 75

Synonyms

Krt2-6hf, Krtcap1, 4732468K03Rik, K6hf

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R4969 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101471780-101482339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101482248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 7 (I7V)

Ref Sequence

ENSEMBL: ENSMUSP00000036246 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042957]

AlphaFold

Q8BGZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000042957
AA Change: I7V

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

SMART Domains

Protein: ENSMUSP00000036246
Gene: ENSMUSG00000022986
AA Change: I7V

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	16	146	1e-32	PFAM
Filament	149	462	1.68e-178	SMART
low complexity region	468	527	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196179

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. This gene is expressed in the companion layer, upper germinative matrix region of the hair follicle, and medulla of the hair shaft. The encoded protein plays an essential role in hair and nail formation. Variations in this gene have been associated with the hair disorders pseudofolliculitis barbae (PFB) and loose anagen hair syndrome (LAHS). [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-in mutation that results in the deletion of the highly conserved asparagine residue (N159) in the helix initiation peptide of this gene develop hair shaft and nail abnormalities resembling pachyonychia congenita. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	G	7: 45,754,943 (GRCm39)	I1525T	probably benign	Het
Agtpbp1	A	G	13: 59,648,392 (GRCm39)	V476A	probably benign	Het
Aipl1	A	G	11: 71,922,256 (GRCm39)	I151T	probably benign	Het
Apc	C	T	18: 34,445,971 (GRCm39)	R938*	probably null	Het
Atp2a2	A	G	5: 122,596,554 (GRCm39)	F855S	possibly damaging	Het
Axdnd1	T	C	1: 156,223,075 (GRCm39)	T261A	possibly damaging	Het
Cbfa2t2	A	G	2: 154,365,900 (GRCm39)	D370G	probably damaging	Het
Cep350	T	C	1: 155,736,025 (GRCm39)	I2964V	probably damaging	Het
Clec16a	T	C	16: 10,386,375 (GRCm39)	V158A	probably damaging	Het
Col6a5	G	A	9: 105,741,806 (GRCm39)	T2371I	probably damaging	Het
Cpne8	T	C	15: 90,503,929 (GRCm39)	T79A	probably damaging	Het
Cyp2b13	A	G	7: 25,780,413 (GRCm39)	R145G	probably damaging	Het
Disc1	G	A	8: 125,851,289 (GRCm39)	W391*	probably null	Het
Dnah8	G	A	17: 30,941,988 (GRCm39)	V1745I	probably damaging	Het
Dsp	T	C	13: 38,376,886 (GRCm39)	V1557A	probably benign	Het
Egfem1	T	A	3: 29,637,145 (GRCm39)	Y194N	probably damaging	Het
Eif4a3	A	G	11: 119,179,705 (GRCm39)	Y361H	probably damaging	Het
Esd	T	A	14: 74,982,153 (GRCm39)	S189R	possibly damaging	Het
Fancf	A	T	7: 51,511,196 (GRCm39)	Y269*	probably null	Het
Fbln2	A	T	6: 91,248,569 (GRCm39)	H1078L	possibly damaging	Het
Fbxw13	A	G	9: 109,010,592 (GRCm39)		probably null	Het
Fcgr2b	A	T	1: 170,790,941 (GRCm39)	V284D	probably benign	Het
Fuz	G	A	7: 44,549,718 (GRCm39)	G363R	probably damaging	Het
Gas7	A	G	11: 67,574,234 (GRCm39)	E403G	probably damaging	Het
Gnl1	A	G	17: 36,291,581 (GRCm39)	D49G	possibly damaging	Het
Gucy2g	A	G	19: 55,214,445 (GRCm39)	V561A	probably benign	Het
H1f7	A	T	15: 98,154,216 (GRCm39)	V311E	unknown	Het
Hebp2	T	C	10: 18,420,122 (GRCm39)	T104A	probably benign	Het
Ighv1-19	T	A	12: 114,672,377 (GRCm39)	Q80L	probably benign	Het
Kctd19	T	A	8: 106,122,959 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,955,428 (GRCm39)	L905P	probably damaging	Het
Klkb1	T	C	8: 45,735,814 (GRCm39)	D183G	probably benign	Het
Krt6b	T	C	15: 101,588,460 (GRCm39)	R67G	possibly damaging	Het
Lpo	A	T	11: 87,697,751 (GRCm39)	N685K	probably benign	Het
Mroh7	A	T	4: 106,538,070 (GRCm39)	I1202N	probably benign	Het
Muc4	T	A	16: 32,754,572 (GRCm38)	M1482K	probably benign	Het
Mylk	T	A	16: 34,791,810 (GRCm39)	V1494E	probably damaging	Het
Neurl4	A	G	11: 69,801,913 (GRCm39)	D17G	probably damaging	Het
Nkx6-3	A	G	8: 23,647,725 (GRCm39)	Y228C	probably damaging	Het
Nprl2	G	A	9: 107,420,273 (GRCm39)		probably null	Het
Nxf1	A	G	19: 8,739,669 (GRCm39)		probably null	Het
Or4a39	A	G	2: 89,236,770 (GRCm39)	F218L	probably benign	Het
Or52u1	A	T	7: 104,237,730 (GRCm39)	N240Y	probably damaging	Het
Pde3b	A	G	7: 114,118,847 (GRCm39)	E662G	possibly damaging	Het
Plekhm3	G	A	1: 64,977,078 (GRCm39)	R131C	probably damaging	Het
Plpp7	T	C	2: 31,985,950 (GRCm39)	S43P	probably benign	Het
Pramel5	A	G	4: 143,998,187 (GRCm39)	L352P	probably damaging	Het
Prepl	T	C	17: 85,395,902 (GRCm39)	S27G	probably benign	Het
Ptprd	A	G	4: 76,051,542 (GRCm39)	I227T	probably damaging	Het
Pttg1ip	C	T	10: 77,419,854 (GRCm39)	Q6*	probably null	Het
Rgl1	C	T	1: 152,424,813 (GRCm39)		probably null	Het
Riiad1	C	A	3: 94,380,173 (GRCm39)	G41*	probably null	Het
Rnf214	C	T	9: 45,807,486 (GRCm39)	R239H	probably damaging	Het
Rpap3	C	T	15: 97,584,407 (GRCm39)	V346I	probably benign	Het
Scaf4	G	A	16: 90,048,831 (GRCm39)	Q328*	probably null	Het
Sec23a	A	G	12: 59,051,274 (GRCm39)		probably null	Het
Slc5a8	T	A	10: 88,740,774 (GRCm39)		probably null	Het
Slc9a8	A	G	2: 167,288,449 (GRCm39)	T183A	probably benign	Het
Sod3	A	T	5: 52,525,736 (GRCm39)	H145L	probably damaging	Het
Sp4	A	G	12: 118,263,341 (GRCm39)	V235A	probably damaging	Het
Spp1	A	C	5: 104,588,153 (GRCm39)	E185A	possibly damaging	Het
Susd1	A	T	4: 59,351,679 (GRCm39)	W461R	probably benign	Het
Svil	A	C	18: 5,095,516 (GRCm39)	K1124Q	probably damaging	Het
Tdrd12	A	T	7: 35,186,720 (GRCm39)		probably null	Het
Terb1	A	T	8: 105,221,795 (GRCm39)	N168K	probably benign	Het
Tnnt1	A	G	7: 4,510,573 (GRCm39)	L216P	probably damaging	Het
Ttc28	A	G	5: 111,424,121 (GRCm39)	K1463E	probably damaging	Het
Twf2	T	G	9: 106,089,098 (GRCm39)		probably null	Het
Urb1	C	T	16: 90,602,299 (GRCm39)	R90Q	probably damaging	Het
Wdr45b	A	T	11: 121,219,650 (GRCm39)	C299*	probably null	Het
Wrap73	A	G	4: 154,237,138 (GRCm39)	S54G	probably damaging	Het
Zeb2	T	C	2: 44,888,931 (GRCm39)	K323R	probably damaging	Het
Zfp410	T	C	12: 84,378,582 (GRCm39)	I302T	possibly damaging	Het

Other mutations in Krt75

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Krt75	APN	15	101,481,081 (GRCm39)	missense	probably benign
IGL01406:Krt75	APN	15	101,476,460 (GRCm39)	missense	probably damaging	1.00
IGL01783:Krt75	APN	15	101,473,364 (GRCm39)	missense	probably benign	0.01
IGL01911:Krt75	APN	15	101,476,537 (GRCm39)	missense	probably damaging	1.00
IGL01945:Krt75	APN	15	101,478,599 (GRCm39)	missense	possibly damaging	0.56
IGL02178:Krt75	APN	15	101,481,226 (GRCm39)	missense	probably benign	0.00
IGL02832:Krt75	APN	15	101,476,508 (GRCm39)	missense	probably benign	0.02
IGL03173:Krt75	APN	15	101,481,162 (GRCm39)	missense	probably damaging	1.00
IGL03276:Krt75	APN	15	101,476,811 (GRCm39)	missense	probably damaging	0.98
BB007:Krt75	UTSW	15	101,473,318 (GRCm39)	makesense	probably null
BB017:Krt75	UTSW	15	101,473,318 (GRCm39)	makesense	probably null
R0482:Krt75	UTSW	15	101,478,746 (GRCm39)	missense	probably benign	0.22
R0595:Krt75	UTSW	15	101,476,789 (GRCm39)	missense	probably damaging	1.00
R0626:Krt75	UTSW	15	101,482,025 (GRCm39)	missense	probably benign	0.05
R1495:Krt75	UTSW	15	101,482,308 (GRCm39)	start gained	probably benign
R1886:Krt75	UTSW	15	101,479,532 (GRCm39)	missense	probably damaging	0.97
R1906:Krt75	UTSW	15	101,481,801 (GRCm39)	missense	possibly damaging	0.66
R1907:Krt75	UTSW	15	101,481,801 (GRCm39)	missense	possibly damaging	0.66
R2055:Krt75	UTSW	15	101,481,196 (GRCm39)	missense	probably benign	0.08
R2504:Krt75	UTSW	15	101,476,466 (GRCm39)	missense	probably benign	0.27
R2930:Krt75	UTSW	15	101,476,466 (GRCm39)	missense	probably benign	0.27
R3788:Krt75	UTSW	15	101,481,956 (GRCm39)	missense	possibly damaging	0.94
R4494:Krt75	UTSW	15	101,480,136 (GRCm39)	nonsense	probably null
R4803:Krt75	UTSW	15	101,476,507 (GRCm39)	missense	probably benign	0.00
R4868:Krt75	UTSW	15	101,476,556 (GRCm39)	missense	probably damaging	1.00
R4906:Krt75	UTSW	15	101,478,674 (GRCm39)	missense	probably damaging	1.00
R5069:Krt75	UTSW	15	101,474,673 (GRCm39)	critical splice donor site	probably null
R5446:Krt75	UTSW	15	101,479,502 (GRCm39)	missense	probably null	0.22
R6019:Krt75	UTSW	15	101,482,158 (GRCm39)	missense	probably benign	0.00
R6739:Krt75	UTSW	15	101,479,503 (GRCm39)	missense	probably benign	0.00
R6835:Krt75	UTSW	15	101,479,472 (GRCm39)	missense	probably benign	0.16
R7167:Krt75	UTSW	15	101,476,750 (GRCm39)	missense	possibly damaging	0.90
R7622:Krt75	UTSW	15	101,478,707 (GRCm39)	missense	probably damaging	1.00
R7930:Krt75	UTSW	15	101,473,318 (GRCm39)	makesense	probably null
R8046:Krt75	UTSW	15	101,481,199 (GRCm39)	missense	probably benign	0.01
R8943:Krt75	UTSW	15	101,476,767 (GRCm39)	missense	probably benign	0.03
R9360:Krt75	UTSW	15	101,476,729 (GRCm39)	missense	probably damaging	1.00
R9483:Krt75	UTSW	15	101,482,238 (GRCm39)	missense	probably benign	0.01
R9609:Krt75	UTSW	15	101,474,677 (GRCm39)	missense	probably benign	0.33
X0022:Krt75	UTSW	15	101,478,648 (GRCm39)	missense	possibly damaging	0.94
Z1088:Krt75	UTSW	15	101,482,100 (GRCm39)	missense	probably benign	0.00
Z1177:Krt75	UTSW	15	101,479,489 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCTAGTCCTGCCACCAAAG -3'
(R):5'- CATTTTCTGCGGGGTACTCAGG -3'

Sequencing Primer
(F):5'- CCCCCTAGGTTGTAGAGGCTG -3'
(R):5'- AGATGCCTAGGGGATGCCATC -3'

Posted On

2016-04-27