Mutagenetix > Incidental Mutation

Incidental Mutation 'R0674:Krt81'

61574

Institutional Source

Beutler Lab

Gene Symbol

Krt81

Ensembl Gene

ENSMUSG00000067615

Gene Name

keratin 81

Synonyms

Krt2-19

MMRRC Submission

038859-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R0674 (G1)

Quality Score

128

Status

Validated

Chromosome

Chromosomal Location

101459061-101463751 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 101463627 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 24 (R24L)

Ref Sequence

ENSEMBL: ENSMUSP00000056525 (fasta)

Gene Model

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

AlphaFold

Q9ERE2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061185
AA Change: R24L

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000056525
Gene: ENSMUSG00000067615
AA Change: R24L

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

0.1063

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.3%
20x: 90.4%

Validation Efficiency

97% (124/128)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 37,044,626	V1134E	possibly damaging	Het
Adar	A	G	3: 89,749,823		probably benign	Het
Adgrl2	A	T	3: 148,837,679	M803K	possibly damaging	Het
Atp13a5	T	C	16: 29,248,350		probably benign	Het
Atp2a3	T	C	11: 72,981,885	I753T	probably damaging	Het
Bace2	G	A	16: 97,436,749	V467M	possibly damaging	Het
Ccser2	A	G	14: 36,918,591	C11R	possibly damaging	Het
Cd2ap	T	A	17: 42,845,392	I85F	possibly damaging	Het
Cd2bp2	C	T	7: 127,194,836	E94K	probably damaging	Het
Chrna3	C	A	9: 55,015,172	A451S	probably damaging	Het
Cmya5	C	A	13: 93,092,791	V1930F	probably damaging	Het
Csmd1	T	C	8: 16,000,550	T2229A	probably benign	Het
Csrnp2	A	T	15: 100,487,991	L122H	probably damaging	Het
Cyp11b2	G	A	15: 74,855,544	P96L	probably damaging	Het
Ddr1	G	T	17: 35,689,669	S368*	probably null	Het
E2f1	T	C	2: 154,564,109	K115E	probably damaging	Het
Erlec1	A	T	11: 30,935,073		probably benign	Het
Fus	T	A	7: 127,972,776		probably benign	Het
Gml	G	A	15: 74,813,860	T92I	probably damaging	Het
Herc1	T	C	9: 66,501,192	S4567P	probably damaging	Het
Iglc2	A	G	16: 19,198,841	S5P	probably benign	Het
Itgam	T	C	7: 128,116,218	V1028A	possibly damaging	Het
Krt222	T	A	11: 99,236,260	N178I	probably benign	Het
Luzp1	C	T	4: 136,543,457	T997I	possibly damaging	Het
Maml1	G	T	11: 50,258,058	Q952K	probably benign	Het
Map2	A	G	1: 66,413,202	E499G	probably damaging	Het
Map4k4	A	T	1: 40,003,815	H118L	probably damaging	Het
Myzap	T	C	9: 71,515,144	D382G	probably damaging	Het
Naip5	T	C	13: 100,223,199	T510A	probably benign	Het
Nek6	G	C	2: 38,558,904	G95R	possibly damaging	Het
Nphp3	T	C	9: 104,036,282		probably null	Het
Nr1d2	T	C	14: 18,215,086	S309G	probably benign	Het
Nrcam	A	T	12: 44,564,322	I570F	probably benign	Het
Oas1d	T	C	5: 120,919,986	I331T	probably benign	Het
Olfr1306	A	T	2: 111,912,673	F86I	probably benign	Het
Olfr65	T	C	7: 103,907,255	V272A	probably benign	Het
Olfr92	G	C	17: 37,111,455	L176V	probably benign	Het
Pex5l	A	T	3: 32,952,616	W535R	probably damaging	Het
Pisd	C	T	5: 32,774,437	R202H	probably benign	Het
Plxna2	A	G	1: 194,649,475	N403S	probably benign	Het
Prdm12	A	G	2: 31,643,912	I180M	probably benign	Het
Prpf6	A	G	2: 181,631,974	T304A	probably benign	Het
Ptprm	G	A	17: 67,191,341	T35I	possibly damaging	Het
Ptx3	T	A	3: 66,224,727	I223N	probably damaging	Het
Pygb	G	A	2: 150,815,134		probably null	Het
Qrsl1	A	G	10: 43,896,001		probably benign	Het
Rad51ap2	T	C	12: 11,458,817		probably null	Het
Ralbp1	C	T	17: 65,852,753	R505H	probably benign	Het
Rimbp3	T	C	16: 17,212,737	S1342P	probably benign	Het
Slc22a14	C	A	9: 119,178,542	R267L	probably damaging	Het
Slco6c1	T	A	1: 97,104,773		probably benign	Het
Tcp1	T	C	17: 12,923,244	I375T	probably damaging	Het
Tiparp	T	C	3: 65,553,165	I525T	probably benign	Het
Tjp2	A	G	19: 24,131,316	L144P	probably benign	Het
Tssk2	A	G	16: 17,899,066	D111G	probably benign	Het
Ttn	T	C	2: 76,945,479	T1740A	possibly damaging	Het
Vmn2r102	T	A	17: 19,677,867	D381E	probably benign	Het
Vsig10	C	T	5: 117,343,846	T367M	probably damaging	Het
Wnt11	T	C	7: 98,846,528	C80R	probably damaging	Het
Zar1	T	A	5: 72,580,300		probably null	Het
Zfp52	A	T	17: 21,561,846	H652L	probably damaging	Het
Zpr1	T	A	9: 46,275,449	L194Q	probably damaging	Het

Other mutations in Krt81

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Krt81	APN	15	101460278	missense	probably benign	0.01
IGL01012:Krt81	APN	15	101461019	missense	probably benign	0.05
IGL01287:Krt81	APN	15	101463388	missense	probably benign	0.00
IGL01304:Krt81	APN	15	101463388	missense	probably benign	0.00
IGL01319:Krt81	APN	15	101463388	missense	probably benign	0.00
IGL01403:Krt81	APN	15	101463388	missense	probably benign	0.00
PIT4508001:Krt81	UTSW	15	101462725	missense	probably damaging	1.00
R0083:Krt81	UTSW	15	101463465	missense	probably damaging	1.00
R0097:Krt81	UTSW	15	101463627	missense	possibly damaging	0.81
R0099:Krt81	UTSW	15	101463521	nonsense	probably null
R0110:Krt81	UTSW	15	101463627	missense	possibly damaging	0.81
R0112:Krt81	UTSW	15	101463627	missense	possibly damaging	0.81
R0196:Krt81	UTSW	15	101463627	missense	possibly damaging	0.81
R0449:Krt81	UTSW	15	101463627	missense	possibly damaging	0.81
R0450:Krt81	UTSW	15	101463627	missense	possibly damaging	0.81
R0482:Krt81	UTSW	15	101463627	missense	possibly damaging	0.81
R0510:Krt81	UTSW	15	101463627	missense	possibly damaging	0.81
R0511:Krt81	UTSW	15	101463627	missense	possibly damaging	0.81
R0512:Krt81	UTSW	15	101463627	missense	possibly damaging	0.81
R0514:Krt81	UTSW	15	101463627	missense	possibly damaging	0.81
R0533:Krt81	UTSW	15	101461389	missense	probably benign	0.42
R0639:Krt81	UTSW	15	101463627	missense	possibly damaging	0.81
R0692:Krt81	UTSW	15	101460172	missense	possibly damaging	0.91
R0737:Krt81	UTSW	15	101463627	missense	possibly damaging	0.81
R1458:Krt81	UTSW	15	101460317	missense	probably benign	0.34
R1824:Krt81	UTSW	15	101460139	missense	probably damaging	0.98
R1991:Krt81	UTSW	15	101462554	missense	probably benign	0.01
R2338:Krt81	UTSW	15	101463336	missense	probably benign	0.25
R4169:Krt81	UTSW	15	101461312	missense	probably benign
R4170:Krt81	UTSW	15	101461312	missense	probably benign
R5267:Krt81	UTSW	15	101459459	missense	probably benign
R5903:Krt81	UTSW	15	101460202	missense	probably damaging	1.00
R6306:Krt81	UTSW	15	101459523	missense	probably benign	0.01
R7055:Krt81	UTSW	15	101461125	missense	probably benign	0.43
R7069:Krt81	UTSW	15	101460728	missense	possibly damaging	0.75
R7191:Krt81	UTSW	15	101460229	missense	probably damaging	1.00
R7441:Krt81	UTSW	15	101461370	missense	possibly damaging	0.95
R7727:Krt81	UTSW	15	101459567	missense	probably damaging	1.00
R7728:Krt81	UTSW	15	101460206	missense	probably damaging	1.00
R7733:Krt81	UTSW	15	101463514	missense	probably damaging	0.96
R8460:Krt81	UTSW	15	101463612	missense	probably damaging	0.98
R9324:Krt81	UTSW	15	101463454	missense	probably damaging	0.99
R9597:Krt81	UTSW	15	101461038	missense	probably benign	0.06
R9638:Krt81	UTSW	15	101460975	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TCGATGAAGGCTGCGAACTTGCTG -3'
(R):5'- TGAAGCTGCCATAAATAGGACCCCG -3'

Sequencing Primer
(F):5'- CGAACTTGCTGTTGAGACAC -3'
(R):5'- CCGGTGCCTGGACTAGC -3'

Posted On

2013-07-30