Mutagenetix > Incidental Mutation

Incidental Mutation 'R9417:Krt71'

712134

Institutional Source

Beutler Lab

Gene Symbol

Krt71

Ensembl Gene

ENSMUSG00000051879

Gene Name

keratin 71

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9417 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101642384-101651532 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101646731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 326 (T326S)

Ref Sequence

ENSEMBL: ENSMUSP00000023710 (fasta)

Gene Model

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

AlphaFold

Q9R0H5

Predicted Effect

probably benign
Transcript: ENSMUST00000023710
AA Change: T326S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000023710
Gene: ENSMUSG00000051879
AA Change: T326S

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

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	A	G	4: 88,786,202 (GRCm39)	Y139H	unknown	Het
Akr1b10	T	C	6: 34,371,027 (GRCm39)	V259A	probably benign	Het
Aldh5a1	A	T	13: 25,095,673 (GRCm39)	N481K	probably damaging	Het
Ankrd26	A	T	6: 118,504,725 (GRCm39)	M728K	possibly damaging	Het
Asic1	A	G	15: 99,590,405 (GRCm39)	M52V	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cacna2d2	C	A	9: 107,392,689 (GRCm39)	Y544*	probably null	Het
Cdcp3	A	G	7: 130,852,218 (GRCm39)	D818G	possibly damaging	Het
Chd4	A	G	6: 125,097,688 (GRCm39)	N1403S	probably damaging	Het
Cldn4	G	T	5: 134,975,174 (GRCm39)	N142K	probably benign	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Dll1	T	C	17: 15,593,710 (GRCm39)	Y219C	probably damaging	Het
Dnah2	T	A	11: 69,326,990 (GRCm39)	I3539F	probably damaging	Het
Egfr	T	A	11: 16,825,067 (GRCm39)	L469*	probably null	Het
Elmo1	A	G	13: 20,756,573 (GRCm39)	N554D	possibly damaging	Het
Fam234a	A	C	17: 26,435,225 (GRCm39)	F306L	probably benign	Het
Fbl	G	A	7: 27,874,052 (GRCm39)	G45D	unknown	Het
Fbxw10	C	A	11: 62,753,522 (GRCm39)	C505*	probably null	Het
Ftcd	G	A	10: 76,417,153 (GRCm39)	G221S	probably damaging	Het
Gad1	A	G	2: 70,417,716 (GRCm39)	D305G	possibly damaging	Het
Gdpd4	A	G	7: 97,607,074 (GRCm39)	D16G	probably benign	Het
Gsdmc3	T	A	15: 63,738,663 (GRCm39)	D133V	possibly damaging	Het
Hpdl	T	C	4: 116,677,817 (GRCm39)	T215A	possibly damaging	Het
Ift56	T	C	6: 38,386,386 (GRCm39)	F369S	probably damaging	Het
Igsf10	A	T	3: 59,236,526 (GRCm39)	N1218K	possibly damaging	Het
Isg20	C	T	7: 78,569,605 (GRCm39)	P192L	probably benign	Het
Itga7	C	T	10: 128,793,543 (GRCm39)	T126M	unknown	Het
Krr1	A	G	10: 111,813,026 (GRCm39)	I134V	probably benign	Het
Lamb1	T	A	12: 31,337,983 (GRCm39)	V480E	probably damaging	Het
Mmp19	T	A	10: 128,630,523 (GRCm39)	L102Q	possibly damaging	Het
Mtor	T	A	4: 148,622,776 (GRCm39)	L1952*	probably null	Het
Myo15a	T	A	11: 60,378,243 (GRCm39)	V215E		Het
Nfs1	T	A	2: 155,965,851 (GRCm39)	K77*	probably null	Het
Or52s1	A	T	7: 102,861,156 (GRCm39)	I30F	possibly damaging	Het
Or9a4	T	A	6: 40,549,096 (GRCm39)	Y259N		Het
Pcdhga4	T	C	18: 37,820,560 (GRCm39)	F703S	probably damaging	Het
Pdzd7	A	G	19: 45,034,022 (GRCm39)	S21P	probably damaging	Het
Pitrm1	A	T	13: 6,617,394 (GRCm39)	I583F	possibly damaging	Het
Ppox	A	G	1: 171,107,855 (GRCm39)	L77P	unknown	Het
Ppp1r37	G	T	7: 19,269,658 (GRCm39)	R114S	probably damaging	Het
Ppp4r3b	T	C	11: 29,144,598 (GRCm39)	V316A	probably benign	Het
Ptprd	A	G	4: 75,865,335 (GRCm39)	I1214T	probably damaging	Het
Rasal3	A	G	17: 32,615,441 (GRCm39)	F466L	probably benign	Het
Ric8b	A	T	10: 84,761,447 (GRCm39)	D41V	probably benign	Het
Rin2	T	C	2: 145,686,713 (GRCm39)	S81P	probably benign	Het
Sft2d1	T	A	17: 8,542,139 (GRCm39)	C128S	probably damaging	Het
Skint1	T	C	4: 111,878,509 (GRCm39)	V147A	probably benign	Het
Slc9c1	T	C	16: 45,413,848 (GRCm39)	V992A	probably benign	Het
Sst	A	G	16: 23,708,487 (GRCm39)	S115P	probably damaging	Het
Sv2b	G	T	7: 74,769,772 (GRCm39)	S590Y	probably damaging	Het
Syne1	C	T	10: 5,082,021 (GRCm39)	V868I	probably benign	Het
Tex35	T	C	1: 156,934,789 (GRCm39)	I42V	possibly damaging	Het
Tlr2	T	C	3: 83,744,892 (GRCm39)	N397S	probably damaging	Het
Tmem202	A	G	9: 59,431,999 (GRCm39)		probably null	Het
Usp20	A	G	2: 30,873,030 (GRCm39)		probably null	Het
Usp32	C	T	11: 84,885,369 (GRCm39)	R1226Q	probably damaging	Het
Usp47	C	T	7: 111,688,801 (GRCm39)	A736V	possibly damaging	Het
Vmn2r-ps117	T	A	17: 19,044,037 (GRCm39)	L371*	probably null	Het
Wwp1	T	A	4: 19,662,215 (GRCm39)	N127Y	possibly damaging	Het
Yae1d1	A	T	13: 18,167,770 (GRCm39)	V41D	probably damaging	Het
Zbtb8b	T	C	4: 129,326,517 (GRCm39)	D216G	probably benign	Het
Zfp462	T	C	4: 55,016,988 (GRCm39)	S903P	probably benign	Het
Zranb1	G	A	7: 132,585,466 (GRCm39)	G638D	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AACATGGCTTCTCTGAGGTC -3'
(R):5'- GGCATCACTAGAATTTGACAGTGG -3'

Sequencing Primer
(F):5'- TCCCTGAGTCCCCGAATGAAG -3'
(R):5'- GACAGTGGTCAAGCTAATATTCTCCC -3'

Posted On

2022-05-16