Mutagenetix > Incidental Mutation

Incidental Mutation 'R6019:Krt75'

478829

Institutional Source

Beutler Lab

Gene Symbol

Krt75

Ensembl Gene

ENSMUSG00000022986

Gene Name

keratin 75

Synonyms

Krt2-6hf, Krtcap1, 4732468K03Rik, K6hf

MMRRC Submission

044193-MU

Accession Numbers

Essential gene?

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

Stock #

R6019 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101471780-101482339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 101482158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 37 (V37L)

Ref Sequence

ENSEMBL: ENSMUSP00000036246 (fasta)

Gene Model

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

AlphaFold

Q8BGZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000042957
AA Change: V37L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000036246
Gene: ENSMUSG00000022986
AA Change: V37L

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.1%

Validation Efficiency

96% (81/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	C	T	16: 20,371,201 (GRCm39)	H436Y	possibly damaging	Het
Acad10	A	T	5: 121,772,864 (GRCm39)	H472Q	possibly damaging	Het
Ano8	G	A	8: 71,935,024 (GRCm39)	R393C	probably damaging	Het
Arhgap18	T	A	10: 26,736,646 (GRCm39)	V163E	probably damaging	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Brix1	C	T	15: 10,476,675 (GRCm39)	R267H	probably benign	Het
Cacng5	T	C	11: 107,775,214 (GRCm39)	M52V	probably benign	Het
Casz1	T	C	4: 149,031,495 (GRCm39)	C1249R	probably damaging	Het
Cenpj	C	T	14: 56,772,272 (GRCm39)	S1086N	probably benign	Het
Chi3l1	T	C	1: 134,117,310 (GRCm39)	F367S	probably benign	Het
Copg2	A	T	6: 30,787,868 (GRCm39)	I610N	possibly damaging	Het
Cpa6	T	C	1: 10,665,868 (GRCm39)	K57E	possibly damaging	Het
D5Ertd579e	C	T	5: 36,787,036 (GRCm39)	A111T	possibly damaging	Het
Dgat2	A	G	7: 98,803,838 (GRCm39)	M361T	probably benign	Het
Dnm3	G	T	1: 161,962,070 (GRCm39)	F46L	probably damaging	Het
Dph7	T	A	2: 24,853,552 (GRCm39)	C122*	probably null	Het
Dspp	A	T	5: 104,325,905 (GRCm39)	D756V	unknown	Het
Efcab3	T	C	11: 104,933,728 (GRCm39)		probably null	Het
Ep300	T	A	15: 81,525,583 (GRCm39)	M1469K	unknown	Het
Fsip2	T	C	2: 82,818,283 (GRCm39)	I4672T	possibly damaging	Het
Gapdh	A	T	6: 125,139,996 (GRCm39)	L67*	probably null	Het
Gpr75	A	G	11: 30,841,640 (GRCm39)	R182G	probably benign	Het
Gsr	G	T	8: 34,183,835 (GRCm39)	A366S	probably damaging	Het
Gypc	A	G	18: 32,663,248 (GRCm39)	I33T	probably damaging	Het
Hapln1	A	G	13: 89,756,219 (GRCm39)	D341G	probably benign	Het
Hnrnpd	A	G	5: 100,115,095 (GRCm39)	S148P	probably benign	Het
Hydin	A	T	8: 111,293,252 (GRCm39)	T3450S	probably benign	Het
Kif20b	T	C	19: 34,927,864 (GRCm39)	V1002A	probably benign	Het
Kif5c	T	C	2: 49,625,521 (GRCm39)	V597A	probably benign	Het
Kntc1	A	G	5: 123,900,579 (GRCm39)	T226A	probably benign	Het
L3mbtl2	A	G	15: 81,571,143 (GRCm39)	I668V	probably benign	Het
Lrp1b	G	A	2: 41,192,982 (GRCm39)	A480V	probably damaging	Het
Lrp1b	T	A	2: 41,366,821 (GRCm39)	D485V	probably damaging	Het
Lrrc37a	T	C	11: 103,347,422 (GRCm39)	H3091R	unknown	Het
Msi1	A	G	5: 115,589,550 (GRCm39)	Y361C	probably damaging	Het
Mtus1	G	T	8: 41,536,077 (GRCm39)	N546K	probably benign	Het
Mup17	T	A	4: 61,511,936 (GRCm39)	T113S	probably benign	Het
Myh11	T	A	16: 14,023,938 (GRCm39)	D1479V	probably damaging	Het
Ncor1	C	T	11: 62,263,987 (GRCm39)	E198K	probably benign	Het
Nrde2	A	G	12: 100,098,501 (GRCm39)	V722A	probably benign	Het
Or13a28	T	C	7: 140,217,925 (GRCm39)	F104L	probably benign	Het
Or51f23	C	T	7: 102,453,491 (GRCm39)	R269*	probably null	Het
Or5ac24	C	T	16: 59,165,798 (GRCm39)	D89N	possibly damaging	Het
Otog	A	G	7: 45,938,374 (GRCm39)	M2028V	probably benign	Het
Paox	T	A	7: 139,711,655 (GRCm39)	V169E	probably damaging	Het
Pcsk9	T	G	4: 106,314,073 (GRCm39)	D174A	probably benign	Het
Pde4b	A	G	4: 102,427,966 (GRCm39)	E41G	possibly damaging	Het
Pip4k2c	A	G	10: 127,034,943 (GRCm39)	I419T	probably damaging	Het
Plekhg3	G	T	12: 76,624,715 (GRCm39)	E1186*	probably null	Het
Pole	C	A	5: 110,472,380 (GRCm39)	P1548T	probably benign	Het
Pole	C	T	5: 110,472,381 (GRCm39)	P1548L	probably benign	Het
Polq	A	G	16: 36,882,126 (GRCm39)	E1430G	probably damaging	Het
Potefam3c	A	T	8: 69,881,966 (GRCm39)	C337S	probably benign	Het
Pramel47	G	A	5: 95,488,072 (GRCm39)	S2N	probably damaging	Het
Ptgr2	T	C	12: 84,344,920 (GRCm39)	S98P	probably damaging	Het
Ralgapa1	A	G	12: 55,730,827 (GRCm39)	Y1903H	possibly damaging	Het
Rasgrp1	T	C	2: 117,122,376 (GRCm39)	D338G	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rnase13	C	T	14: 52,159,860 (GRCm39)	C93Y	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
S100z	T	A	13: 95,613,934 (GRCm39)	M59L	probably benign	Het
Ska1	T	A	18: 74,332,992 (GRCm39)	D142V	probably benign	Het
Slc16a3	T	C	11: 120,847,931 (GRCm39)		probably null	Het
Snd1	T	C	6: 28,880,233 (GRCm39)	V669A	probably benign	Het
Snrpd3	A	T	10: 75,368,029 (GRCm39)	T49S	probably damaging	Het
Sort1	T	C	3: 108,264,549 (GRCm39)	L856P	possibly damaging	Het
Srek1ip1	T	A	13: 104,970,830 (GRCm39)		probably null	Het
Ssrp1	T	C	2: 84,875,796 (GRCm39)	S552P	probably damaging	Het
Stab2	A	G	10: 86,838,886 (GRCm39)	V60A	probably benign	Het
Stard9	GCCC	GCC	2: 120,524,196 (GRCm39)		probably null	Het
Tll1	A	C	8: 64,494,525 (GRCm39)	H743Q	possibly damaging	Het
Tpo	G	T	12: 30,144,980 (GRCm39)	R590S	possibly damaging	Het
Trbv12-1	A	T	6: 41,090,780 (GRCm39)	T51S	probably benign	Het
Trbv30	C	T	6: 41,258,708 (GRCm39)	A40V	probably benign	Het
Tulp4	T	A	17: 6,283,490 (GRCm39)	V1173E	possibly damaging	Het
Upk1a	A	T	7: 30,311,810 (GRCm39)		probably null	Het
Vinac1	T	C	2: 128,879,610 (GRCm39)	Q772R	probably benign	Het
Vmn1r199	A	G	13: 22,566,769 (GRCm39)	D21G	possibly damaging	Het
Vmn2r7	T	C	3: 64,623,643 (GRCm39)	T317A	probably damaging	Het
Wdfy3	A	G	5: 101,997,289 (GRCm39)	V3112A	probably damaging	Het
Zbtb8os	T	C	4: 129,234,542 (GRCm39)	V40A	possibly damaging	Het
Zfp1002	T	A	2: 150,097,132 (GRCm39)	H99L	probably damaging	Het
Zwint	A	G	10: 72,492,685 (GRCm39)	K108E	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
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
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'- ACTTCCTGAATGCCTCCAGAG -3'
(R):5'- AGTCTAAGGACCTGCACCTC -3'

Sequencing Primer
(F):5'- CCTCCAGAGGGACAGACAG -3'
(R):5'- ACCTCCCTAACCGCCTGG -3'

Posted On

2017-06-26