Mutagenetix > Incidental Mutation

Incidental Mutation 'R4906:Krt75'

378235

Institutional Source

Beutler Lab

Gene Symbol

Krt75

Ensembl Gene

ENSMUSG00000022986

Gene Name

keratin 75

Synonyms

Krt2-6hf, Krtcap1, 4732468K03Rik, K6hf

MMRRC Submission

042508-MU

Accession Numbers

Essential gene?

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

Stock #

R4906 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101471780-101482339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101478674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 320 (I320T)

Ref Sequence

ENSEMBL: ENSMUSP00000036246 (fasta)

Gene Model

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

AlphaFold

Q8BGZ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000042957
AA Change: I320T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036246
Gene: ENSMUSG00000022986
AA Change: I320T

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: 98.9%
3x: 98.1%
10x: 95.7%
20x: 90.5%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417H12Rik	T	C	7: 107,223,897 (GRCm39)		probably benign	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Adgrf2	T	C	17: 43,022,084 (GRCm39)	I247V	probably benign	Het
Adgrv1	A	G	13: 81,418,857 (GRCm39)		probably null	Het
Ankrd22	T	A	19: 34,126,752 (GRCm39)	K26I	possibly damaging	Het
Arhgap32	T	A	9: 32,156,552 (GRCm39)		probably null	Het
Armc10	A	G	5: 21,866,522 (GRCm39)	Y262C	probably damaging	Het
Arrb2	A	G	11: 70,330,725 (GRCm39)	D374G	probably benign	Het
Ascc3	C	T	10: 50,625,227 (GRCm39)	R1675C	probably damaging	Het
Atg5	T	C	10: 44,239,046 (GRCm39)	*276R	probably null	Het
Bcl11b	G	A	12: 107,882,968 (GRCm39)	T377M	probably damaging	Het
C1s2	C	A	6: 124,612,073 (GRCm39)	E104*	probably null	Het
Carf	A	T	1: 60,180,526 (GRCm39)	H316L	probably damaging	Het
Ccdc77	A	T	6: 120,311,796 (GRCm39)	I234N	probably damaging	Het
Cd300c2	A	T	11: 114,887,826 (GRCm39)	V192E	possibly damaging	Het
Cep72	G	A	13: 74,207,584 (GRCm39)	R62C	probably damaging	Het
Clasp1	T	A	1: 118,436,640 (GRCm39)	L308*	probably null	Het
Clec2g	A	G	6: 128,956,411 (GRCm39)	S25G	probably benign	Het
Cngb1	T	C	8: 95,978,601 (GRCm39)	M1046V	probably damaging	Het
Cobll1	A	T	2: 64,928,037 (GRCm39)	D1095E	probably benign	Het
Cpeb2	A	G	5: 43,402,005 (GRCm39)	H662R	possibly damaging	Het
Cps1	A	T	1: 67,178,922 (GRCm39)	T45S	probably benign	Het
Cspp1	A	G	1: 10,152,553 (GRCm39)	Q368R	possibly damaging	Het
Dcaf6	C	A	1: 165,239,032 (GRCm39)		probably null	Het
Dcst1	T	C	3: 89,257,814 (GRCm39)	Y652C	possibly damaging	Het
Elf5	T	G	2: 103,279,918 (GRCm39)	Y225*	probably null	Het
Ermap	A	C	4: 119,046,015 (GRCm39)		probably benign	Het
Fam186b	A	T	15: 99,169,202 (GRCm39)	V915D	probably damaging	Het
Fbxo34	C	A	14: 47,766,911 (GRCm39)	N90K	probably benign	Het
Flnc	A	G	6: 29,447,524 (GRCm39)	E1109G	probably damaging	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Gabpb2	A	G	3: 95,097,947 (GRCm39)	V242A	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gm21798	A	T	15: 64,689,732 (GRCm39)		probably benign	Het
Gpr179	A	T	11: 97,237,487 (GRCm39)	S345T	possibly damaging	Het
Gusb	A	T	5: 130,026,959 (GRCm39)	F377L	probably damaging	Het
Hnrnpu	T	C	1: 178,156,938 (GRCm39)		probably benign	Het
Htr3b	C	T	9: 48,848,348 (GRCm39)		probably null	Het
Iqub	A	T	6: 24,501,368 (GRCm39)	V194D	probably damaging	Het
Itga2b	A	G	11: 102,351,985 (GRCm39)	V504A	probably benign	Het
Itga4	T	A	2: 79,118,592 (GRCm39)	F430L	probably damaging	Het
Jcad	C	A	18: 4,673,762 (GRCm39)	P508H	probably damaging	Het
Jph1	T	C	1: 17,161,835 (GRCm39)	T276A	probably damaging	Het
Kansl2	A	G	15: 98,429,771 (GRCm39)	F87S	possibly damaging	Het
Kdm1b	T	C	13: 47,216,620 (GRCm39)		probably null	Het
Kif5b	C	T	18: 6,220,930 (GRCm39)	D393N	probably benign	Het
Kmt2d	A	T	15: 98,747,420 (GRCm39)		probably benign	Het
Lhfpl7	T	A	5: 113,386,036 (GRCm39)	M161K	probably benign	Het
Lipo5	T	C	19: 33,443,348 (GRCm39)	N156S	unknown	Het
Mblac2	A	C	13: 81,859,706 (GRCm39)	Q19P	probably null	Het
Mdfic2	A	T	6: 98,215,080 (GRCm39)	M181K	probably damaging	Het
Mfsd4b3-ps	T	C	10: 39,824,056 (GRCm39)	H68R	probably damaging	Het
Mzb1	A	T	18: 35,781,006 (GRCm39)		probably null	Het
Nup210l	T	A	3: 90,077,337 (GRCm39)	I891N	probably benign	Het
Nwd1	G	A	8: 73,398,841 (GRCm39)	R667Q	probably damaging	Het
Oas1h	C	T	5: 121,005,172 (GRCm39)	Q207*	probably null	Het
Or13c7d	A	T	4: 43,770,476 (GRCm39)	F178L	possibly damaging	Het
Pcdh15	C	T	10: 74,340,625 (GRCm39)	R1120*	probably null	Het
Pfkl	A	G	10: 77,824,144 (GRCm39)	L748P	probably damaging	Het
Phldb2	T	A	16: 45,571,758 (GRCm39)	K473N	probably damaging	Het
Rapgef6	G	A	11: 54,443,662 (GRCm39)	V82I	probably damaging	Het
Rfc3	A	T	5: 151,570,960 (GRCm39)	L112Q	probably damaging	Het
Rsph6a	T	A	7: 18,801,997 (GRCm39)	C349S	possibly damaging	Het
Sec16a	A	T	2: 26,331,979 (GRCm39)		probably benign	Het
Septin14	T	A	5: 129,770,030 (GRCm39)	Y222F	probably benign	Het
Skor2	T	C	18: 76,947,990 (GRCm39)	S571P	possibly damaging	Het
Slc13a5	T	A	11: 72,148,244 (GRCm39)	M264L	probably damaging	Het
Slc45a3	T	A	1: 131,909,315 (GRCm39)	V504E	probably damaging	Het
Smg1	C	T	7: 117,751,631 (GRCm39)		probably benign	Het
Smim20	A	G	5: 53,434,503 (GRCm39)	N45S	probably null	Het
Spp2	A	T	1: 88,339,991 (GRCm39)	S111C	probably damaging	Het
Sspo	A	G	6: 48,442,664 (GRCm39)		probably null	Het
Sycp2	C	T	2: 178,045,450 (GRCm39)		probably null	Het
Tas2r113	A	G	6: 132,870,521 (GRCm39)	N183S	possibly damaging	Het
Tcaf2	A	T	6: 42,606,679 (GRCm39)	M425K	probably benign	Het
Tdrp	A	G	8: 14,003,845 (GRCm39)	V164A	possibly damaging	Het
Tmbim1	A	G	1: 74,328,568 (GRCm39)	F298S	probably damaging	Het
Tmem89	A	G	9: 108,743,829 (GRCm39)		probably benign	Het
Trpm2	G	T	10: 77,768,023 (GRCm39)	C825*	probably null	Het
Tsc1	A	G	2: 28,565,201 (GRCm39)	E421G	possibly damaging	Het
Usp24	T	C	4: 106,245,834 (GRCm39)	I1364T	probably benign	Het
Vmn1r52	G	A	6: 90,155,930 (GRCm39)	G78E	possibly damaging	Het
Vmn2r73	T	G	7: 85,506,829 (GRCm39)	I828L	probably damaging	Het
Vwa5b1	A	T	4: 138,338,058 (GRCm39)	D87E	probably benign	Het
Zfp1010	T	C	2: 176,957,223 (GRCm39)	T92A	possibly damaging	Het
Zfp451	A	T	1: 33,844,465 (GRCm39)	D47E	probably damaging	Het
Zfp821	A	G	8: 110,450,841 (GRCm39)	E278G	probably damaging	Het
Zfp930	A	T	8: 69,681,597 (GRCm39)	T430S	probably benign	Het
Zfp994	G	T	17: 22,419,448 (GRCm39)	Y500*	probably null	Het
Zmat3	A	T	3: 32,397,836 (GRCm39)	I142N	probably damaging	Het
Zzef1	T	A	11: 72,792,214 (GRCm39)	I2266N	probably 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
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
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'- CTGGTGTCAGAACTCCACTTG -3'
(R):5'- CCGGGGACATGATTAACAGG -3'

Sequencing Primer
(F):5'- GTGTCAGAACTCCACTTGTGCAG -3'
(R):5'- AAGGACTTCTGCCAGGGATGC -3'

Posted On

2016-04-15