Mutagenetix > Incidental Mutation

Incidental Mutation 'R2055:Krt75'

226626

Institutional Source

Beutler Lab

Gene Symbol

Krt75

Ensembl Gene

ENSMUSG00000022986

Gene Name

keratin 75

Synonyms

Krt2-6hf, Krtcap1, 4732468K03Rik, K6hf

MMRRC Submission

040060-MU

Accession Numbers

Essential gene?

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

Stock #

R2055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101471780-101482339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101481196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 193 (V193I)

Ref Sequence

ENSEMBL: ENSMUSP00000036246 (fasta)

Gene Model

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

AlphaFold

Q8BGZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000042957
AA Change: V193I

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000036246
Gene: ENSMUSG00000022986
AA Change: V193I

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (74/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,561,107 (GRCm39)	E185G	probably damaging	Het
3425401B19Rik	A	G	14: 32,384,508 (GRCm39)	S486P	probably benign	Het
A630023A22Rik	T	C	14: 33,774,707 (GRCm39)		probably benign	Het
Abca1	T	C	4: 53,069,881 (GRCm39)	N1271S	probably benign	Het
AI597479	C	T	1: 43,150,280 (GRCm39)	A130V	probably benign	Het
Angptl4	A	G	17: 33,999,498 (GRCm39)		probably null	Het
Arhgef25	T	A	10: 127,021,004 (GRCm39)	N294I	probably damaging	Het
Atp2b1	T	C	10: 98,850,421 (GRCm39)	V848A	probably damaging	Het
Bard1	T	C	1: 71,114,031 (GRCm39)	T317A	probably benign	Het
C1rl	T	C	6: 124,470,781 (GRCm39)	W30R	probably benign	Het
Cchcr1	A	G	17: 35,837,317 (GRCm39)	E379G	probably damaging	Het
Cfap36	G	T	11: 29,197,122 (GRCm39)	A3E	probably damaging	Het
Cilp	G	A	9: 65,186,997 (GRCm39)	G1031S	probably damaging	Het
Clca4a	A	G	3: 144,676,489 (GRCm39)	Y64H	probably damaging	Het
Cops5	A	G	1: 10,102,562 (GRCm39)		probably null	Het
Cracr2a	G	T	6: 127,585,564 (GRCm39)	E121*	probably null	Het
Cstf1	A	G	2: 172,222,403 (GRCm39)	E387G	probably benign	Het
D630044L22Rik	A	C	17: 26,180,951 (GRCm39)	D733E	probably damaging	Het
Dlc1	A	T	8: 37,060,535 (GRCm39)	C514S	probably damaging	Het
Dmwd	G	T	7: 18,810,610 (GRCm39)	R139L	probably benign	Het
Dnah17	A	T	11: 117,958,357 (GRCm39)	S2709T	probably benign	Het
Dnmt3a	T	C	12: 3,922,859 (GRCm39)	I154T	probably benign	Het
Dpp7	T	C	2: 25,244,490 (GRCm39)	N297S	possibly damaging	Het
Ern2	A	T	7: 121,783,168 (GRCm39)	V34D	possibly damaging	Het
Erp27	A	G	6: 136,885,227 (GRCm39)		probably benign	Het
F2	T	C	2: 91,458,787 (GRCm39)	T508A	probably benign	Het
Fam181b	A	G	7: 92,729,634 (GRCm39)	T136A	probably benign	Het
Fam227b	C	A	2: 125,942,874 (GRCm39)	V308L	probably benign	Het
Fbxw20	A	T	9: 109,050,442 (GRCm39)	H394Q	probably damaging	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Glt8d1	T	G	14: 30,731,693 (GRCm39)	S111A	probably benign	Het
Gm11146	A	T	16: 77,391,969 (GRCm39)		probably benign	Het
Grip1	C	T	10: 119,885,416 (GRCm39)		probably benign	Het
H2-Q2	A	T	17: 35,564,247 (GRCm39)	T334S	probably benign	Het
Hcrtr1	A	G	4: 130,024,680 (GRCm39)	V402A	probably benign	Het
Hmcn2	C	A	2: 31,268,294 (GRCm39)	A1130D	probably benign	Het
Hsd17b2	T	C	8: 118,428,913 (GRCm39)	L60P	possibly damaging	Het
Htr1f	A	T	16: 64,746,398 (GRCm39)	I298N	probably damaging	Het
Ighmbp2	G	T	19: 3,315,095 (GRCm39)	A775D	probably benign	Het
Kcnn3	A	G	3: 89,428,682 (GRCm39)	T303A	probably damaging	Het
Kiz	C	A	2: 146,733,203 (GRCm39)	Q460K	probably benign	Het
Lsp1	G	A	7: 142,043,144 (GRCm39)		probably null	Het
Mfsd12	A	G	10: 81,196,063 (GRCm39)	H146R	probably damaging	Het
Mmp23	T	C	4: 155,736,444 (GRCm39)	K199R	possibly damaging	Het
Naip2	A	G	13: 100,315,880 (GRCm39)	V300A	probably benign	Het
Nbeal1	C	T	1: 60,350,216 (GRCm39)	L2422F	probably damaging	Het
Nbeal2	G	T	9: 110,464,375 (GRCm39)	D1094E	possibly damaging	Het
Nckap5	T	C	1: 125,954,635 (GRCm39)	E639G	probably damaging	Het
Nr4a3	A	G	4: 48,067,771 (GRCm39)	I456V	possibly damaging	Het
Or2t43	A	G	11: 58,457,673 (GRCm39)	F166S	probably damaging	Het
Parp9	G	T	16: 35,773,984 (GRCm39)	V86L	probably damaging	Het
Phactr1	A	G	13: 43,231,416 (GRCm39)	N386S	probably damaging	Het
Pold2	A	T	11: 5,823,516 (GRCm39)	Y304*	probably null	Het
Pou5f2	A	G	13: 78,173,940 (GRCm39)	Y294C	probably benign	Het
Rars1	A	G	11: 35,717,410 (GRCm39)		probably benign	Het
Rbm12b1	A	G	4: 12,145,606 (GRCm39)	E526G	probably benign	Het
Sacs	T	C	14: 61,451,498 (GRCm39)	Y4515H	probably damaging	Het
Sdk2	C	A	11: 113,741,780 (GRCm39)	R813L	probably damaging	Het
Six5	T	C	7: 18,829,154 (GRCm39)	V198A	possibly damaging	Het
Slco1a7	A	T	6: 141,671,181 (GRCm39)	H430Q	probably benign	Het
Spata31e2	A	T	1: 26,724,813 (GRCm39)	N122K	possibly damaging	Het
Spn	A	G	7: 126,736,388 (GRCm39)	S40P	probably damaging	Het
Ssr1	A	G	13: 38,171,761 (GRCm39)		probably benign	Het
Tlr6	C	A	5: 65,111,269 (GRCm39)	C546F	probably damaging	Het
Top1	T	A	2: 160,544,748 (GRCm39)		probably benign	Het
Trhr2	A	G	8: 123,085,532 (GRCm39)	S151P	probably damaging	Het
Tubb2b	T	G	13: 34,311,708 (GRCm39)	K362Q	probably benign	Het
Unc13c	T	C	9: 73,643,832 (GRCm39)	T1211A	probably damaging	Het
Vmn1r15	T	C	6: 57,235,729 (GRCm39)	V199A	possibly damaging	Het
Vnn1	A	G	10: 23,776,475 (GRCm39)		probably benign	Het
Vps41	T	A	13: 19,038,786 (GRCm39)	N737K	possibly damaging	Het
Vps50	T	A	6: 3,522,265 (GRCm39)	N144K	probably benign	Het
Zc3h7a	A	T	16: 10,955,340 (GRCm39)	N911K	probably benign	Het
Zkscan7	T	A	9: 122,718,002 (GRCm39)	S132R	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
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
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'- CTGCATTCTCTGGACCTCAG -3'
(R):5'- ATCGATCACGGCGTAAAAGC -3'

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

Posted On

2014-09-17