Mutagenetix > Incidental Mutation

Incidental Mutation 'R8046:Krt75'

618782

Institutional Source

Beutler Lab

Gene Symbol

Krt75

Ensembl Gene

ENSMUSG00000022986

Gene Name

keratin 75

Synonyms

Krt2-6hf, Krtcap1, 4732468K03Rik, K6hf

MMRRC Submission

067483-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R8046 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101471780-101482339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101481199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 192 (T192A)

Ref Sequence

ENSEMBL: ENSMUSP00000036246 (fasta)

Gene Model

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

AlphaFold

Q8BGZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000042957
AA Change: T192A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000036246
Gene: ENSMUSG00000022986
AA Change: T192A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (64/64)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	T	5: 77,044,325 (GRCm39)	D188E	probably benign	Het
Ahcyl2	T	C	6: 29,878,619 (GRCm39)	L273P	probably damaging	Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Angpt1	T	C	15: 42,359,752 (GRCm39)	T227A	probably benign	Het
Ankle1	C	T	8: 71,860,665 (GRCm39)	T374M	probably damaging	Het
Arhgap18	T	C	10: 26,763,853 (GRCm39)	V481A	probably damaging	Het
Astn2	A	T	4: 66,184,587 (GRCm39)	L170*	probably null	Het
Bms1	T	C	6: 118,385,105 (GRCm39)	T368A	probably benign	Het
Boll	A	G	1: 55,385,562 (GRCm39)	I121T	probably damaging	Het
Brca1	A	C	11: 101,416,296 (GRCm39)	C613G	probably benign	Het
Cdk14	T	A	5: 5,299,159 (GRCm39)	I65F	possibly damaging	Het
Chn1	T	C	2: 73,448,363 (GRCm39)	D335G	probably damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Col12a1	A	G	9: 79,613,508 (GRCm39)		probably null	Het
Cplane2	A	C	4: 140,947,348 (GRCm39)	Q243P	probably damaging	Het
Crtac1	T	C	19: 42,297,492 (GRCm39)		probably benign	Het
Dhx40	A	T	11: 86,675,766 (GRCm39)	C507*	probably null	Het
Dok2	A	G	14: 71,015,482 (GRCm39)	D403G	probably damaging	Het
Eif1ad14	T	C	12: 87,886,335 (GRCm39)	D98G	probably benign	Het
Eif2b5	A	G	16: 20,325,154 (GRCm39)	T556A	possibly damaging	Het
Eml6	A	T	11: 29,708,981 (GRCm39)	V1480E	probably damaging	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Glra1	A	G	11: 55,427,225 (GRCm39)	S120P	probably damaging	Het
Habp4	T	C	13: 64,322,656 (GRCm39)	S242P	probably benign	Het
Igkv12-46	A	G	6: 69,741,570 (GRCm39)	I95T	probably damaging	Het
Itch	G	T	2: 155,052,422 (GRCm39)	G674V	probably damaging	Het
Itpr2	A	G	6: 146,327,957 (GRCm39)	L92P	probably damaging	Het
Kcnk2	A	G	1: 188,990,933 (GRCm39)		probably null	Het
Lrp1b	T	A	2: 41,159,199 (GRCm39)	K1694N		Het
Lrrc14	A	G	15: 76,598,731 (GRCm39)	K456E	possibly damaging	Het
Map1lc3a	G	T	2: 155,119,129 (GRCm39)		probably benign	Het
Naip5	T	A	13: 100,358,741 (GRCm39)	M832L	probably benign	Het
Nectin1	A	G	9: 43,703,798 (GRCm39)	T263A	probably benign	Het
Nnt	A	T	13: 119,511,286 (GRCm39)	M330K	probably damaging	Het
Nrap	T	C	19: 56,308,683 (GRCm39)	N1711D	possibly damaging	Het
Olfm1	A	G	2: 28,119,135 (GRCm39)	N285D	possibly damaging	Het
Or4b1d	T	A	2: 89,969,159 (GRCm39)	E108V	probably damaging	Het
Or51ab3	T	A	7: 103,201,584 (GRCm39)	S197R	possibly damaging	Het
Or8b8	A	T	9: 37,808,685 (GRCm39)		probably benign	Het
Pag1	A	G	3: 9,764,482 (GRCm39)	Y224H	probably damaging	Het
Pde8a	T	C	7: 80,958,587 (GRCm39)	C322R	possibly damaging	Het
Pde8a	A	T	7: 80,967,118 (GRCm39)	T420S	probably benign	Het
Per2	A	C	1: 91,363,425 (GRCm39)	L365R	possibly damaging	Het
Pml	A	G	9: 58,154,256 (GRCm39)		probably null	Het
Ppp1r1a	T	A	15: 103,446,305 (GRCm39)	M1L	possibly damaging	Het
Ppp3r2	G	T	4: 49,681,913 (GRCm39)	C12*	probably null	Het
Rbm20	C	A	19: 53,806,402 (GRCm39)	A494D	probably benign	Het
Scyl1	C	T	19: 5,810,620 (GRCm39)	R531Q	possibly damaging	Het
Skp2	C	A	15: 9,139,687 (GRCm39)	V38F	probably damaging	Het
Slc27a3	A	G	3: 90,296,974 (GRCm39)	C42R	probably damaging	Het
Tekt5	A	G	16: 10,213,277 (GRCm39)	F3L	probably benign	Het
Tmem200c	A	G	17: 69,147,513 (GRCm39)	K32R	probably benign	Het
Tmprss11f	T	A	5: 86,676,132 (GRCm39)	R350W	probably damaging	Het
Tph2	A	T	10: 115,015,499 (GRCm39)	I121N	possibly damaging	Het
Trim37	A	G	11: 87,037,794 (GRCm39)	D176G	possibly damaging	Het
Trpc4	A	T	3: 54,102,335 (GRCm39)	I78F	probably damaging	Het
Ttn	T	C	2: 76,609,829 (GRCm39)	K17526E	probably damaging	Het
Tuba8	A	C	6: 121,199,832 (GRCm39)	Y172S	probably damaging	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het
Urb2	A	T	8: 124,754,771 (GRCm39)	R159S	possibly damaging	Het
Usp25	T	A	16: 76,906,063 (GRCm39)	C840S	probably damaging	Het
Vmn1r36	T	A	6: 66,692,964 (GRCm39)	K304*	probably null	Het
Vmn1r37	C	A	6: 66,708,656 (GRCm39)	T94N	probably damaging	Het
Vmn2r7	T	C	3: 64,614,479 (GRCm39)	N445S	probably damaging	Het
Wnk4	G	A	11: 101,164,918 (GRCm39)	G749D	probably benign	Het
Wscd2	G	A	5: 113,689,176 (GRCm39)	V61I	probably benign	Het
Zfp85	T	A	13: 67,897,098 (GRCm39)	R325*	probably null	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
R4969:Krt75	UTSW	15	101,482,248 (GRCm39)	missense	probably benign
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
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'- CTGCATTCTCTGGACCTCAG -3'
(R):5'- TCGATCACGGCGTAAAAGC -3'

Sequencing Primer
(F):5'- TCTGGACCTCAGAGGAAACAGC -3'
(R):5'- GCGTAAAAGCCCCTTTGTG -3'

Posted On

2020-01-23