Mutagenetix > Incidental Mutation

Incidental Mutation 'R0040:Krt71'

15464

Institutional Source

Beutler Lab

Gene Symbol

Krt71

Ensembl Gene

ENSMUSG00000051879

Gene Name

keratin 71

Synonyms

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

MMRRC Submission

038334-MU

Accession Numbers

Essential gene?

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

Stock #

R0040 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

101642384-101651532 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101646868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 280 (H280L)

Ref Sequence

ENSEMBL: ENSMUSP00000023710 (fasta)

Gene Model

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

AlphaFold

Q9R0H5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023710
AA Change: H280L

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023710
Gene: ENSMUSG00000051879
AA Change: H280L

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

Meta Mutation Damage Score

0.7151

Coding Region Coverage

1x: 84.2%
3x: 77.3%
10x: 61.4%
20x: 43.8%

Validation Efficiency

96% (74/77)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	G	6: 121,622,165 (GRCm39)	L356R	possibly damaging	Het
Antxr2	G	A	5: 98,086,284 (GRCm39)	T441I	possibly damaging	Het
Apcs	A	G	1: 172,722,023 (GRCm39)	Y108H	probably benign	Het
Arpp21	T	C	9: 111,976,477 (GRCm39)		probably benign	Het
Atcay	C	T	10: 81,046,353 (GRCm39)		probably null	Het
Bahcc1	A	G	11: 120,159,196 (GRCm39)	D141G	probably damaging	Het
Cacng5	A	T	11: 107,775,336 (GRCm39)	L11Q	probably damaging	Het
Ccdc73	T	C	2: 104,822,429 (GRCm39)	S793P	probably damaging	Het
Ceacam10	A	G	7: 24,477,689 (GRCm39)	Y68C	probably damaging	Het
Csmd3	G	A	15: 47,497,212 (GRCm39)	P3062S	probably damaging	Het
Dctn4	A	G	18: 60,677,114 (GRCm39)	N145D	possibly damaging	Het
Dusp12	A	G	1: 170,708,226 (GRCm39)	Y164H	probably damaging	Het
Fat1	A	G	8: 45,479,441 (GRCm39)	D2829G	probably damaging	Het
Fbxl13	T	C	5: 21,691,371 (GRCm39)	T671A	probably damaging	Het
Fndc3b	T	A	3: 27,610,266 (GRCm39)		probably null	Het
Gprc6a	T	A	10: 51,491,080 (GRCm39)	K819*	probably null	Het
Gucy2g	T	A	19: 55,205,734 (GRCm39)	T709S	possibly damaging	Het
Gxylt1	A	T	15: 93,152,436 (GRCm39)		probably benign	Het
Idh2	A	G	7: 79,747,570 (GRCm39)	S317P	probably damaging	Het
Ifi30	T	C	8: 71,216,421 (GRCm39)		probably null	Het
Ifna16	G	A	4: 88,594,867 (GRCm39)	A76V	probably benign	Het
Itpr2	C	T	6: 146,246,638 (GRCm39)	E1127K	probably damaging	Het
Kank4	A	G	4: 98,667,457 (GRCm39)	V330A	probably benign	Het
Kri1	T	C	9: 21,192,401 (GRCm39)	Y131C	probably damaging	Het
Lox	A	T	18: 52,653,898 (GRCm39)	H399Q	possibly damaging	Het
Mapt	A	G	11: 104,196,224 (GRCm39)	M446V	probably damaging	Het
Mpp7	A	T	18: 7,403,180 (GRCm39)		probably benign	Het
Mycbp2	A	G	14: 103,461,708 (GRCm39)	V1447A	probably benign	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Myo1b	A	T	1: 51,821,148 (GRCm39)	I451N	probably damaging	Het
Nubp1	A	G	16: 10,238,981 (GRCm39)	T199A	probably damaging	Het
Olfml2b	A	G	1: 170,496,320 (GRCm39)	H317R	probably benign	Het
Pard3b	A	T	1: 62,676,979 (GRCm39)	Y1170F	probably damaging	Het
Pear1	T	C	3: 87,661,665 (GRCm39)	D536G	probably damaging	Het
Pira6	A	G	7: 4,284,482 (GRCm39)		noncoding transcript	Het
Pkhd1l1	T	A	15: 44,437,021 (GRCm39)	Y3460N	probably damaging	Het
Plxna2	G	T	1: 194,326,204 (GRCm39)	R46L	probably benign	Het
Rnf168	T	A	16: 32,096,991 (GRCm39)		probably null	Het
Rpl14	C	G	9: 120,401,167 (GRCm39)	F3L	possibly damaging	Het
Scara5	C	T	14: 66,000,166 (GRCm39)		probably benign	Het
Sh3rf1	T	A	8: 61,782,286 (GRCm39)	Y143N	possibly damaging	Het
Slc4a8	T	A	15: 100,687,727 (GRCm39)	I288N	probably damaging	Het
Synpr	G	A	14: 13,563,024 (GRCm38)	A86T	probably damaging	Het
Ttc38	C	A	15: 85,725,690 (GRCm39)	F184L	probably damaging	Het
Wdpcp	A	G	11: 21,661,638 (GRCm39)	I303M	probably damaging	Het
Zc3h12d	G	A	10: 7,743,678 (GRCm39)	A483T	probably benign	Het
Zfp106	C	A	2: 120,362,094 (GRCm39)	K1008N	probably damaging	Het
Zfp68	G	A	5: 138,606,041 (GRCm39)	T94I	probably benign	Het
Zfp867	C	T	11: 59,354,691 (GRCm39)	A213T	possibly damaging	Het
Zkscan3	A	T	13: 21,579,090 (GRCm39)		probably null	Het

Other mutations in Krt71

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Krt71	APN	15	101,645,109 (GRCm39)	missense	probably damaging	1.00
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
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

2012-12-21