Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01024:Krt71'

54012

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt71

Ensembl Gene

ENSMUSG00000051879

Gene Name

keratin 71

Synonyms

mK6irs, Cal4, Krt2-6g, Ca, Cu, mK6irs1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

IGL01024

Quality Score

Status

Chromosome

Chromosomal Location

101642384-101651532 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101645109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 401 (A401T)

Ref Sequence

ENSEMBL: ENSMUSP00000023710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023710]

AlphaFold

Q9R0H5

Predicted Effect

probably damaging
Transcript: ENSMUST00000023710
AA Change: A401T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000023710
Gene: ENSMUSG00000051879
AA Change: A401T

Domain	Start	End	E-Value	Type
low complexity region	17	55	N/A	INTRINSIC
Pfam:Keratin_2_head	59	127	1.6e-20	PFAM
Filament	130	443	1.19e-151	SMART
low complexity region	449	465	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]
PHENOTYPE: Mutations in this gene result in waved hair and curly vibrissae. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	C	19: 3,767,040 (GRCm39)	V209A	probably benign	Het
Abca6	T	A	11: 110,087,968 (GRCm39)	Y1053F	probably benign	Het
Acot12	C	T	13: 91,929,330 (GRCm39)	Q386*	probably null	Het
Adamts16	A	G	13: 70,943,603 (GRCm39)	V336A	probably benign	Het
Ankrd49	A	G	9: 14,694,099 (GRCm39)	F23L	probably damaging	Het
Aspm	A	T	1: 139,405,862 (GRCm39)	H1583L	possibly damaging	Het
Atp6v0a1	A	G	11: 100,939,265 (GRCm39)	I677V	probably benign	Het
Brinp1	A	T	4: 68,680,731 (GRCm39)	W600R	probably damaging	Het
Ccdc185	T	C	1: 182,574,988 (GRCm39)	E567G	possibly damaging	Het
Clip2	T	C	5: 134,539,066 (GRCm39)	D445G	probably damaging	Het
Elp5	T	C	11: 69,859,248 (GRCm39)		probably benign	Het
Gm9376	A	G	14: 118,504,570 (GRCm39)	M1V	probably null	Het
Gtf2a1l	A	G	17: 88,978,719 (GRCm39)	K40R	probably damaging	Het
Hdc	A	G	2: 126,445,766 (GRCm39)	V246A	probably benign	Het
Hectd2	T	A	19: 36,583,793 (GRCm39)	F479L	probably damaging	Het
Hipk1	G	T	3: 103,667,952 (GRCm39)	N538K	probably benign	Het
Kif27	T	A	13: 58,436,015 (GRCm39)	E1259D	possibly damaging	Het
Klhdc2	T	A	12: 69,352,610 (GRCm39)	N256K	probably benign	Het
Mapk3	A	T	7: 126,363,946 (GRCm39)	K312*	probably null	Het
Med12l	G	T	3: 58,980,762 (GRCm39)	S365I	probably damaging	Het
Mgam	A	G	6: 40,619,944 (GRCm39)	K11R	probably benign	Het
Nox3	A	T	17: 3,733,290 (GRCm39)	I187N	probably damaging	Het
Nudcd1	T	A	15: 44,284,222 (GRCm39)	M55L	probably benign	Het
Or1a1b	A	T	11: 74,097,481 (GRCm39)	L187Q	probably damaging	Het
Or4f59	A	T	2: 111,872,716 (GRCm39)	F220L	probably benign	Het
Or8b57	A	G	9: 40,004,029 (GRCm39)	S78P	probably damaging	Het
Pard6g	T	C	18: 80,123,037 (GRCm39)		probably benign	Het
Pbrm1	G	A	14: 30,774,217 (GRCm39)	R461H	probably damaging	Het
Ppm1f	C	A	16: 16,741,633 (GRCm39)	T369K	probably benign	Het
Ppp1r16b	C	T	2: 158,582,736 (GRCm39)		probably benign	Het
Pramel29	A	T	4: 143,935,045 (GRCm39)	I232K	possibly damaging	Het
Prom2	T	C	2: 127,383,059 (GRCm39)	N61S	probably benign	Het
Psmc2	T	C	5: 22,006,196 (GRCm39)		probably benign	Het
Psme2	A	G	14: 55,825,893 (GRCm39)		probably benign	Het
Ptprc	T	C	1: 138,008,650 (GRCm39)	H655R	probably damaging	Het
Pxdn	A	C	12: 30,037,098 (GRCm39)	N292T	probably damaging	Het
Rapgef2	T	C	3: 78,977,445 (GRCm39)	I1301V	probably benign	Het
Rnase11	T	C	14: 51,287,321 (GRCm39)	I78V	probably benign	Het
Rpl41	A	G	10: 128,384,246 (GRCm39)		probably benign	Het
Sgf29	G	A	7: 126,264,103 (GRCm39)	R56Q	possibly damaging	Het
Sis	A	G	3: 72,819,209 (GRCm39)	L1449S	probably damaging	Het
Slc34a2	T	A	5: 53,224,972 (GRCm39)	V371D	possibly damaging	Het
Son	C	A	16: 91,452,798 (GRCm39)	T515K	probably damaging	Het
Tbx15	A	T	3: 99,223,562 (GRCm39)	D250V	probably damaging	Het
Thoc2l	T	G	5: 104,669,612 (GRCm39)	V1378G	probably benign	Het
Tmem171	T	A	13: 98,823,026 (GRCm39)		probably null	Het
Ugt2b36	C	T	5: 87,228,728 (GRCm39)		probably null	Het
Vill	G	A	9: 118,899,418 (GRCm39)		probably null	Het
Vmn2r22	A	G	6: 123,615,012 (GRCm39)	F193L	probably damaging	Het
Vmn2r95	C	T	17: 18,672,590 (GRCm39)		probably benign	Het
Vstm2a	T	A	11: 16,231,874 (GRCm39)	V223D	possibly damaging	Het

Other mutations in Krt71

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03076:Krt71	APN	15	101,643,032 (GRCm39)	missense	probably benign	0.00
IGL03390:Krt71	APN	15	101,642,987 (GRCm39)	missense	possibly damaging	0.93
R0040:Krt71	UTSW	15	101,646,868 (GRCm39)	missense	possibly damaging	0.90
R0040:Krt71	UTSW	15	101,646,868 (GRCm39)	missense	possibly damaging	0.90
R0041:Krt71	UTSW	15	101,647,753 (GRCm39)	missense	probably damaging	1.00
R0153:Krt71	UTSW	15	101,643,141 (GRCm39)	missense	possibly damaging	0.65
R0376:Krt71	UTSW	15	101,646,505 (GRCm39)	missense	probably damaging	1.00
R0932:Krt71	UTSW	15	101,645,195 (GRCm39)	missense	probably benign	0.20
R1263:Krt71	UTSW	15	101,643,901 (GRCm39)	missense	probably damaging	1.00
R1646:Krt71	UTSW	15	101,647,199 (GRCm39)	splice site	probably null
R1796:Krt71	UTSW	15	101,651,315 (GRCm39)	missense	possibly damaging	0.68
R1954:Krt71	UTSW	15	101,643,901 (GRCm39)	nonsense	probably null
R3001:Krt71	UTSW	15	101,648,906 (GRCm39)	splice site	probably benign
R3793:Krt71	UTSW	15	101,651,345 (GRCm39)	missense	probably damaging	1.00
R4236:Krt71	UTSW	15	101,643,129 (GRCm39)	missense	probably benign	0.09
R4751:Krt71	UTSW	15	101,643,901 (GRCm39)	missense	probably damaging	1.00
R6445:Krt71	UTSW	15	101,648,775 (GRCm39)	missense	probably benign	0.06
R7034:Krt71	UTSW	15	101,646,772 (GRCm39)	missense	probably benign	0.41
R7036:Krt71	UTSW	15	101,646,772 (GRCm39)	missense	probably benign	0.41
R7378:Krt71	UTSW	15	101,646,764 (GRCm39)	nonsense	probably null
R7942:Krt71	UTSW	15	101,643,894 (GRCm39)	missense	probably damaging	0.99
R7961:Krt71	UTSW	15	101,643,877 (GRCm39)	missense	probably damaging	0.99
R8026:Krt71	UTSW	15	101,646,817 (GRCm39)	missense	possibly damaging	0.66
R8131:Krt71	UTSW	15	101,643,141 (GRCm39)	missense	possibly damaging	0.65
R8943:Krt71	UTSW	15	101,645,180 (GRCm39)	missense	possibly damaging	0.95
R9017:Krt71	UTSW	15	101,651,100 (GRCm39)	missense	possibly damaging	0.68
R9417:Krt71	UTSW	15	101,646,731 (GRCm39)	missense	probably benign	0.03
R9632:Krt71	UTSW	15	101,644,988 (GRCm39)	missense	probably damaging	1.00
R9763:Krt71	UTSW	15	101,646,757 (GRCm39)	missense	probably damaging	1.00
R9797:Krt71	UTSW	15	101,645,069 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-28