Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01012:Krt81'

53993

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt81

Ensembl Gene

ENSMUSG00000067615

Gene Name

keratin 81

Synonyms

Krt2-19

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL01012

Quality Score

Status

Chromosome

Chromosomal Location

101356942-101361632 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101358900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 284 (D284G)

Ref Sequence

ENSEMBL: ENSMUSP00000056525 (fasta)

Gene Model

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

AlphaFold

Q9ERE2

Predicted Effect

probably benign
Transcript: ENSMUST00000061185
AA Change: D284G

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000056525
Gene: ENSMUSG00000067615
AA Change: D284G

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

Coding Region Coverage

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	T	18: 61,972,772 (GRCm39)	M249K	possibly damaging	Het
Adamtsl1	T	C	4: 86,260,426 (GRCm39)	F879S	possibly damaging	Het
Afap1l2	T	C	19: 56,918,693 (GRCm39)	E30G	probably damaging	Het
Aqp9	A	G	9: 71,037,831 (GRCm39)		probably benign	Het
Arhgap17	A	T	7: 122,885,791 (GRCm39)		probably benign	Het
Arhgef10	T	C	8: 15,029,977 (GRCm39)	S921P	probably damaging	Het
Atp6v0e2	T	C	6: 48,514,749 (GRCm39)	I22T	probably damaging	Het
AY074887	C	T	9: 54,857,963 (GRCm39)		probably benign	Het
Bcl2l15	T	A	3: 103,740,730 (GRCm39)	D65E	probably damaging	Het
C2cd6	A	T	1: 59,036,507 (GRCm39)		probably benign	Het
Ccdc138	G	A	10: 58,376,737 (GRCm39)		probably null	Het
Ccdc7b	A	G	8: 129,904,838 (GRCm39)	T159A	possibly damaging	Het
Ccser1	A	G	6: 61,615,474 (GRCm39)	T659A	probably benign	Het
Cd300ld2	T	A	11: 114,903,123 (GRCm39)	I241F	probably benign	Het
Cep192	T	A	18: 67,945,477 (GRCm39)	N192K	possibly damaging	Het
Csmd1	T	C	8: 15,967,341 (GRCm39)	K3174R	probably benign	Het
Dpy30	A	T	17: 74,614,749 (GRCm39)	L65I	probably damaging	Het
Eci2	A	T	13: 35,174,312 (GRCm39)	L83*	probably null	Het
F7	A	T	8: 13,083,409 (GRCm39)	E183V	probably damaging	Het
Gabrg1	T	C	5: 70,935,512 (GRCm39)	K214R	probably benign	Het
Galr2	A	T	11: 116,173,996 (GRCm39)	T209S	probably damaging	Het
Gimap9	T	C	6: 48,654,851 (GRCm39)		probably null	Het
Gip	C	A	11: 95,916,285 (GRCm39)	F28L	probably benign	Het
Gpd2	A	G	2: 57,254,542 (GRCm39)	N662S	probably benign	Het
Grik2	T	G	10: 49,149,052 (GRCm39)	D511A	probably damaging	Het
Ift122	T	A	6: 115,876,452 (GRCm39)	Y563N	probably damaging	Het
Ipo8	A	G	6: 148,690,561 (GRCm39)		probably benign	Het
Islr	T	C	9: 58,064,511 (GRCm39)	E332G	probably damaging	Het
Itgb7	G	A	15: 102,136,020 (GRCm39)	S5L	probably benign	Het
Itpr2	G	A	6: 146,246,659 (GRCm39)	R1087W	probably damaging	Het
Katnal2	C	A	18: 77,105,250 (GRCm39)	V66F	probably damaging	Het
Krtap4-8	T	A	11: 99,670,831 (GRCm39)		probably benign	Het
Map1s	C	A	8: 71,366,554 (GRCm39)	N486K	probably benign	Het
Med13l	G	A	5: 118,872,093 (GRCm39)	D842N	probably damaging	Het
Mef2c	T	A	13: 83,803,714 (GRCm39)	M306K	probably damaging	Het
Myb	C	T	10: 21,022,159 (GRCm39)	V377I	probably benign	Het
Myocd	C	T	11: 65,075,451 (GRCm39)	G558R	possibly damaging	Het
Nars1	G	T	18: 64,638,039 (GRCm39)	A305E	probably damaging	Het
Neb	A	T	2: 52,086,373 (GRCm39)	N5233K	probably benign	Het
Nipsnap2	T	C	5: 129,823,503 (GRCm39)	I181T	possibly damaging	Het
Or10d4b	A	T	9: 39,534,661 (GRCm39)	M81L	probably benign	Het
Or1s2	T	C	19: 13,758,937 (GRCm39)		probably benign	Het
P3h2	A	C	16: 25,805,998 (GRCm39)	C282G	probably damaging	Het
Pcgf5	T	A	19: 36,420,268 (GRCm39)	C167S	probably damaging	Het
Pck2	T	C	14: 55,781,526 (GRCm39)		probably benign	Het
Peli2	C	T	14: 48,490,187 (GRCm39)	R169*	probably null	Het
Pramel16	T	A	4: 143,676,784 (GRCm39)		probably benign	Het
Psme3ip1	G	A	8: 95,313,990 (GRCm39)	R104W	probably damaging	Het
Ralgapa2	T	A	2: 146,263,659 (GRCm39)	Q686L	possibly damaging	Het
Scap	C	A	9: 110,191,488 (GRCm39)	P50H	probably damaging	Het
Sh3rf2	T	A	18: 42,187,257 (GRCm39)	D125E	possibly damaging	Het
Slc25a38	T	C	9: 119,945,560 (GRCm39)		probably benign	Het
Slc35a5	A	G	16: 44,964,195 (GRCm39)	V346A	probably damaging	Het
Smad4	T	A	18: 73,808,880 (GRCm39)	N129I	probably damaging	Het
Sod2	C	T	17: 13,232,464 (GRCm39)	A163V	possibly damaging	Het
Spred3	T	A	7: 28,860,948 (GRCm39)		probably benign	Het
Stag1	C	A	9: 100,737,912 (GRCm39)	A423E	possibly damaging	Het
Stk17b	A	T	1: 53,800,196 (GRCm39)	S261T	probably benign	Het
Stx3	T	C	19: 11,769,152 (GRCm39)	K58E	probably damaging	Het
Timm10b	C	A	7: 105,290,345 (GRCm39)	Y79*	probably null	Het
Tmem204	T	C	17: 25,289,329 (GRCm39)	D97G	probably damaging	Het
Tnfrsf25	T	C	4: 152,202,885 (GRCm39)	V181A	probably benign	Het
Trim54	T	G	5: 31,294,302 (GRCm39)	S313A	probably benign	Het
Unc79	T	A	12: 103,078,714 (GRCm39)	D1433E	probably damaging	Het
Vmn2r23	A	G	6: 123,706,555 (GRCm39)	T462A	probably benign	Het
Wdr27	T	A	17: 15,146,509 (GRCm39)	H162L	probably damaging	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
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
R5267:Krt81	UTSW	15	101,357,340 (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

Posted On

2013-06-28