Mutagenetix > Incidental Mutation

Incidental Mutation 'R5267:Krt81'

401804

Institutional Source

Beutler Lab

Gene Symbol

Krt81

Ensembl Gene

ENSMUSG00000067615

Gene Name

keratin 81

Synonyms

Krt2-19

MMRRC Submission

042859-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R5267 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

101356942-101361632 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101357340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 464 (N464I)

Ref Sequence

ENSEMBL: ENSMUSP00000056525 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061185]

AlphaFold

Q9ERE2

Predicted Effect

probably benign
Transcript: ENSMUST00000061185
AA Change: N464I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000056525
Gene: ENSMUSG00000067615
AA Change: N464I

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	2	102	5.6e-15	PFAM
Filament	105	416	6.92e-148	SMART
low complexity region	424	438	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230541

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

98% (86/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,374,933 (GRCm39)		probably benign	Het
Adam15	T	G	3: 89,257,206 (GRCm39)		probably benign	Het
Albfm1	T	C	5: 90,732,716 (GRCm39)	F509S	probably damaging	Het
Atp12a	T	C	14: 56,621,668 (GRCm39)	S768P	probably damaging	Het
Atp8a1	G	A	5: 67,919,887 (GRCm39)	T393I	probably damaging	Het
B4galnt4	T	G	7: 140,650,524 (GRCm39)	I3S	probably damaging	Het
Bfsp1	G	A	2: 143,668,971 (GRCm39)	T536I	probably benign	Het
Brsk1	G	T	7: 4,707,708 (GRCm39)	W284L	probably damaging	Het
Cadm3	A	T	1: 173,164,669 (GRCm39)	D370E	probably damaging	Het
Cadps2	A	G	6: 23,626,667 (GRCm39)	I207T	possibly damaging	Het
Calr4	A	C	4: 109,101,273 (GRCm39)	T52P	probably damaging	Het
Catsperg2	G	A	7: 29,416,491 (GRCm39)	T307M	probably damaging	Het
Ckap5	T	A	2: 91,422,097 (GRCm39)	N1166K	probably null	Het
Clca4a	G	A	3: 144,659,573 (GRCm39)	T761I	probably damaging	Het
Cnksr3	A	T	10: 7,076,633 (GRCm39)		probably null	Het
Diaph3	A	G	14: 86,893,989 (GRCm39)	S7P	probably benign	Het
Dnah7a	G	A	1: 53,518,851 (GRCm39)	P2969S	probably damaging	Het
Dnai2	A	T	11: 114,631,293 (GRCm39)	T221S	probably benign	Het
Dsc2	A	G	18: 20,167,640 (GRCm39)		probably null	Het
Eif4g1	A	G	16: 20,504,283 (GRCm39)	N789S	probably damaging	Het
Fn1	C	T	1: 71,668,863 (GRCm39)	R694H	probably damaging	Het
Gm5478	G	A	15: 101,552,837 (GRCm39)	R365C	probably damaging	Het
Gm5591	A	T	7: 38,218,338 (GRCm39)	M845K	possibly damaging	Het
Gm5800	A	T	14: 51,951,294 (GRCm39)		probably null	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
H2-Q2	A	T	17: 35,562,155 (GRCm39)	Y134F	probably benign	Het
Hcfc1r1	A	G	17: 23,893,648 (GRCm39)	R76G	possibly damaging	Het
Hectd4	T	C	5: 121,482,887 (GRCm39)	I3146T	probably benign	Het
Herc1	G	T	9: 66,369,091 (GRCm39)	L2928F	probably damaging	Het
Hmx3	C	T	7: 131,145,898 (GRCm39)	A202V	probably benign	Het
Ikzf3	A	T	11: 98,381,406 (GRCm39)	M58K	probably benign	Het
Il20ra	A	G	10: 19,625,107 (GRCm39)	T129A	probably damaging	Het
Il21	T	C	3: 37,281,946 (GRCm39)	H66R	probably benign	Het
Kcnh5	A	T	12: 75,134,190 (GRCm39)	M453K	probably damaging	Het
Kdf1	C	G	4: 133,256,258 (GRCm39)	A325G	probably damaging	Het
Klhl10	C	T	11: 100,338,047 (GRCm39)	A262V	probably benign	Het
Ksr1	A	T	11: 78,911,251 (GRCm39)	I698N	probably damaging	Het
Lrp2	A	G	2: 69,379,322 (GRCm39)	V130A	possibly damaging	Het
Mcm2	T	C	6: 88,874,432 (GRCm39)	T25A	probably benign	Het
Mrps18c	T	A	5: 100,950,960 (GRCm39)	Y93*	probably null	Het
Mycl	C	T	4: 122,894,289 (GRCm39)	A363V	probably damaging	Het
Mylk2	C	A	2: 152,755,469 (GRCm39)	A211E	probably benign	Het
Myo5a	G	A	9: 75,059,292 (GRCm39)	D507N	probably damaging	Het
Myo7b	A	G	18: 32,131,787 (GRCm39)	F470L	probably damaging	Het
Oas1a	A	T	5: 121,037,284 (GRCm39)	C248S	probably benign	Het
Or2ag2b	T	C	7: 106,418,015 (GRCm39)	S242P	probably damaging	Het
Or4c15b	C	T	2: 89,112,574 (GRCm39)	W301*	probably null	Het
Or51aa2	T	C	7: 103,188,031 (GRCm39)	I137V	probably benign	Het
Or5b116	A	G	19: 13,422,475 (GRCm39)	Y33C	probably damaging	Het
Or5m9b	T	A	2: 85,905,882 (GRCm39)	V266E	probably benign	Het
Or5p67	A	G	7: 107,922,185 (GRCm39)	S233P	probably damaging	Het
Or8d1	G	A	9: 38,767,101 (GRCm39)	V248M	probably damaging	Het
Otub1	C	A	19: 7,177,357 (GRCm39)	G67C	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Paqr8	A	G	1: 21,004,920 (GRCm39)	I25V	probably benign	Het
Pcdh1	A	G	18: 38,325,252 (GRCm39)	Y897H	probably damaging	Het
Pde4d	T	G	13: 109,397,343 (GRCm39)		probably benign	Het
Pdzd8	C	A	19: 59,289,458 (GRCm39)	K647N	probably damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Praf2	T	C	X: 7,596,641 (GRCm39)		probably benign	Het
Pramel29	A	T	4: 143,939,575 (GRCm39)		probably benign	Het
Psg25	A	T	7: 18,258,711 (GRCm39)	Y322N	possibly damaging	Het
Rxrg	A	G	1: 167,463,335 (GRCm39)	E402G	probably damaging	Het
Selenok	T	A	14: 29,692,022 (GRCm39)	V20E	probably benign	Het
Sipa1	G	A	19: 5,705,786 (GRCm39)	T394I	probably benign	Het
Spag17	A	T	3: 99,969,264 (GRCm39)	N1247I	probably damaging	Het
Spata31d1c	A	G	13: 65,183,718 (GRCm39)	D420G	probably damaging	Het
Syk	A	G	13: 52,795,962 (GRCm39)	K519R	probably benign	Het
Syne2	A	T	12: 75,985,515 (GRCm39)	E1654D	possibly damaging	Het
Tha1	A	C	11: 117,760,502 (GRCm39)	S241A	probably damaging	Het
Thsd7a	T	A	6: 12,379,601 (GRCm39)	E941V	probably damaging	Het
Tjp1	T	C	7: 64,972,797 (GRCm39)	T548A	probably damaging	Het
Tube1	C	A	10: 39,020,552 (GRCm39)	D210E	probably benign	Het
Vmn1r183	T	A	7: 23,754,971 (GRCm39)	I258N	possibly damaging	Het
Vmn1r89	A	T	7: 12,954,140 (GRCm39)	N292I	probably damaging	Het
Vmp1	C	A	11: 86,554,377 (GRCm39)	V79L	probably benign	Het
Zfp182	T	A	X: 20,902,605 (GRCm39)	D125V	possibly damaging	Het
Zfp975	T	G	7: 42,311,654 (GRCm39)	T320P	probably damaging	Het
Znrf1	G	A	8: 112,263,899 (GRCm39)	A43T	probably benign	Het

Other mutations in Krt81

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Krt81	APN	15	101,358,159 (GRCm39)	missense	probably benign	0.01
IGL01012:Krt81	APN	15	101,358,900 (GRCm39)	missense	probably benign	0.05
IGL01287:Krt81	APN	15	101,361,269 (GRCm39)	missense	probably benign	0.00
IGL01304:Krt81	APN	15	101,361,269 (GRCm39)	missense	probably benign	0.00
IGL01319:Krt81	APN	15	101,361,269 (GRCm39)	missense	probably benign	0.00
IGL01403:Krt81	APN	15	101,361,269 (GRCm39)	missense	probably benign	0.00
PIT4508001:Krt81	UTSW	15	101,360,606 (GRCm39)	missense	probably damaging	1.00
R0083:Krt81	UTSW	15	101,361,346 (GRCm39)	missense	probably damaging	1.00
R0097:Krt81	UTSW	15	101,361,508 (GRCm39)	missense	possibly damaging	0.81
R0099:Krt81	UTSW	15	101,361,402 (GRCm39)	nonsense	probably null
R0110:Krt81	UTSW	15	101,361,508 (GRCm39)	missense	possibly damaging	0.81
R0112:Krt81	UTSW	15	101,361,508 (GRCm39)	missense	possibly damaging	0.81
R0196:Krt81	UTSW	15	101,361,508 (GRCm39)	missense	possibly damaging	0.81
R0449:Krt81	UTSW	15	101,361,508 (GRCm39)	missense	possibly damaging	0.81
R0450:Krt81	UTSW	15	101,361,508 (GRCm39)	missense	possibly damaging	0.81
R0482:Krt81	UTSW	15	101,361,508 (GRCm39)	missense	possibly damaging	0.81
R0510:Krt81	UTSW	15	101,361,508 (GRCm39)	missense	possibly damaging	0.81
R0511:Krt81	UTSW	15	101,361,508 (GRCm39)	missense	possibly damaging	0.81
R0512:Krt81	UTSW	15	101,361,508 (GRCm39)	missense	possibly damaging	0.81
R0514:Krt81	UTSW	15	101,361,508 (GRCm39)	missense	possibly damaging	0.81
R0533:Krt81	UTSW	15	101,359,270 (GRCm39)	missense	probably benign	0.42
R0639:Krt81	UTSW	15	101,361,508 (GRCm39)	missense	possibly damaging	0.81
R0674:Krt81	UTSW	15	101,361,508 (GRCm39)	missense	possibly damaging	0.81
R0692:Krt81	UTSW	15	101,358,053 (GRCm39)	missense	possibly damaging	0.91
R0737:Krt81	UTSW	15	101,361,508 (GRCm39)	missense	possibly damaging	0.81
R1458:Krt81	UTSW	15	101,358,198 (GRCm39)	missense	probably benign	0.34
R1824:Krt81	UTSW	15	101,358,020 (GRCm39)	missense	probably damaging	0.98
R1991:Krt81	UTSW	15	101,360,435 (GRCm39)	missense	probably benign	0.01
R2338:Krt81	UTSW	15	101,361,217 (GRCm39)	missense	probably benign	0.25
R4169:Krt81	UTSW	15	101,359,193 (GRCm39)	missense	probably benign
R4170:Krt81	UTSW	15	101,359,193 (GRCm39)	missense	probably benign
R5903:Krt81	UTSW	15	101,358,083 (GRCm39)	missense	probably damaging	1.00
R6306:Krt81	UTSW	15	101,357,404 (GRCm39)	missense	probably benign	0.01
R7055:Krt81	UTSW	15	101,359,006 (GRCm39)	missense	probably benign	0.43
R7069:Krt81	UTSW	15	101,358,609 (GRCm39)	missense	possibly damaging	0.75
R7191:Krt81	UTSW	15	101,358,110 (GRCm39)	missense	probably damaging	1.00
R7441:Krt81	UTSW	15	101,359,251 (GRCm39)	missense	possibly damaging	0.95
R7727:Krt81	UTSW	15	101,357,448 (GRCm39)	missense	probably damaging	1.00
R7728:Krt81	UTSW	15	101,358,087 (GRCm39)	missense	probably damaging	1.00
R7733:Krt81	UTSW	15	101,361,395 (GRCm39)	missense	probably damaging	0.96
R8460:Krt81	UTSW	15	101,361,493 (GRCm39)	missense	probably damaging	0.98
R9324:Krt81	UTSW	15	101,361,335 (GRCm39)	missense	probably damaging	0.99
R9597:Krt81	UTSW	15	101,358,919 (GRCm39)	missense	probably benign	0.06
R9638:Krt81	UTSW	15	101,358,856 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGAGAGGGTCGCTTCAAAGTG -3'
(R):5'- AAGGGGTCTGGCTTTTAATTCC -3'

Sequencing Primer
(F):5'- TCGCTTCAAAGTGAGCAAGTGAC -3'
(R):5'- TTAATTCCAGGAATTCAGGGTCAGG -3'

Posted On

2016-07-06