Mutagenetix > Incidental Mutation

Incidental Mutation 'R4721:Krt83'

397152

Institutional Source

Beutler Lab

Gene Symbol

Krt83

Ensembl Gene

ENSMUSG00000047641

Gene Name

keratin 83

Synonyms

Krt2-25

MMRRC Submission

041986-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R4721 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101485131-101491512 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101487982 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 244 (E244G)

Ref Sequence

ENSEMBL: ENSMUSP00000023718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023718]

AlphaFold

Q6IMF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000023718
AA Change: E244G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023718
Gene: ENSMUSG00000067613
AA Change: E244G

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	2	100	5.9e-16	PFAM
Filament	103	414	7.02e-149	SMART
low complexity region	422	436	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230173

Meta Mutation Damage Score

0.5964

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (90/92)

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 KRTHB1 and KRTHB6, is found primarily in the hair cortex. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,663,150 (GRCm38)	D286G	probably benign	Het
Abca15	G	A	7: 120,350,775 (GRCm38)	E491K	probably benign	Het
Acsl5	A	G	19: 55,280,530 (GRCm38)	T208A	probably benign	Het
Adamts10	T	A	17: 33,545,537 (GRCm38)		probably null	Het
Ahcyl1	T	C	3: 107,669,917 (GRCm38)	Q313R	possibly damaging	Het
Ccdc71	C	T	9: 108,463,423 (GRCm38)	S145L	possibly damaging	Het
Cep250	A	G	2: 155,970,199 (GRCm38)	T472A	probably damaging	Het
Copa	T	C	1: 172,104,274 (GRCm38)		probably benign	Het
Crybg1	C	A	10: 43,997,887 (GRCm38)	R1075L	probably damaging	Het
Ddr2	T	A	1: 170,005,240 (GRCm38)	K84*	probably null	Het
Ddx59	C	T	1: 136,417,106 (GRCm38)	P172S	probably benign	Het
Dhx34	T	A	7: 16,197,382 (GRCm38)	Q1118L	possibly damaging	Het
Dkkl1	T	A	7: 45,207,808 (GRCm38)	I112F	probably damaging	Het
Dnah8	T	A	17: 30,725,166 (GRCm38)	C1786S	probably damaging	Het
Eml6	T	A	11: 29,838,525 (GRCm38)	D520V	possibly damaging	Het
Ergic1	T	A	17: 26,638,776 (GRCm38)	V192E	probably damaging	Het
Fat3	T	C	9: 16,029,966 (GRCm38)	E1343G	probably damaging	Het
Fxr1	T	C	3: 34,064,232 (GRCm38)	S535P	possibly damaging	Het
Gkn3	C	T	6: 87,383,525 (GRCm38)	A163T	probably damaging	Het
Gm15446	C	T	5: 109,943,000 (GRCm38)	H373Y	probably damaging	Het
Gpr157	A	T	4: 150,098,963 (GRCm38)	N197Y	probably benign	Het
Grid2	G	A	6: 64,666,201 (GRCm38)	M982I	probably benign	Het
Hey2	G	T	10: 30,834,308 (GRCm38)	R150S	possibly damaging	Het
Hmcn1	T	C	1: 150,772,571 (GRCm38)		probably null	Het
Ighv3-3	G	A	12: 114,196,536 (GRCm38)	R85*	probably null	Het
Ighv5-4	A	T	12: 113,597,440 (GRCm38)		probably benign	Het
Igsf21	A	G	4: 140,107,310 (GRCm38)	S84P	probably benign	Het
Kif20b	A	G	19: 34,938,373 (GRCm38)	T517A	probably benign	Het
Lrp1	T	C	10: 127,555,059 (GRCm38)	T2990A	possibly damaging	Het
Lrp1b	T	A	2: 40,715,369 (GRCm38)		probably null	Het
Lrrc42	A	T	4: 107,233,853 (GRCm38)	S382T	probably benign	Het
Magi2	C	T	5: 20,534,469 (GRCm38)	R737W	probably damaging	Het
Mcc	A	G	18: 44,519,556 (GRCm38)	L267P	probably damaging	Het
Mzf1	C	T	7: 13,043,521 (GRCm38)	R652Q	possibly damaging	Het
Mzf1	T	A	7: 13,043,296 (GRCm38)	Q727L	possibly damaging	Het
Nkain3	C	T	4: 20,485,015 (GRCm38)	A21T	probably damaging	Het
Nlrp4e	T	A	7: 23,321,096 (GRCm38)	V336E	possibly damaging	Het
Nptn	C	T	9: 58,640,776 (GRCm38)	R155C	probably damaging	Het
Nr2c2	T	C	6: 92,139,847 (GRCm38)	I10T	possibly damaging	Het
Olfr1148	T	A	2: 87,833,171 (GRCm38)	I44N	probably damaging	Het
Olfr341	T	C	2: 36,479,824 (GRCm38)	Y102C	probably benign	Het
Olfr385	C	T	11: 73,589,447 (GRCm38)	C97Y	probably damaging	Het
Pdzk1	G	T	3: 96,869,202 (GRCm38)	E493*	probably null	Het
Plekhh1	GTCAAA	G	12: 79,075,420 (GRCm38)		probably null	Het
Polr3b	T	C	10: 84,656,003 (GRCm38)	V342A	possibly damaging	Het
Prg3	T	C	2: 84,991,406 (GRCm38)	V125A	possibly damaging	Het
Raph1	G	A	1: 60,503,001 (GRCm38)		probably benign	Het
Rassf2	A	G	2: 132,004,438 (GRCm38)	V133A	probably benign	Het
Rbm22	G	A	18: 60,564,391 (GRCm38)	R56H	probably damaging	Het
Rbpjl	A	C	2: 164,404,527 (GRCm38)	S31R	probably benign	Het
Reln	A	G	5: 21,919,222 (GRCm38)	V2762A	probably damaging	Het
Rxrg	T	A	1: 167,625,052 (GRCm38)	I141N	probably damaging	Het
Scn7a	C	A	2: 66,684,185 (GRCm38)	G1082C	probably damaging	Het
Selenon	C	A	4: 134,543,076 (GRCm38)	E322*	probably null	Het
Sipa1	C	T	19: 5,660,385 (GRCm38)	R199Q	probably damaging	Het
Slc26a7	A	T	4: 14,510,261 (GRCm38)		probably null	Het
Slc37a4	T	C	9: 44,401,490 (GRCm38)	S314P	possibly damaging	Het
Smarce1	T	C	11: 99,220,717 (GRCm38)	I59V	probably benign	Het
Stk19	T	C	17: 34,823,144 (GRCm38)		probably null	Het
Susd2	C	T	10: 75,638,130 (GRCm38)	D544N	probably benign	Het
Tcf7l2	G	T	19: 55,931,454 (GRCm38)	R465L	possibly damaging	Het
Tfap2d	T	A	1: 19,104,760 (GRCm38)	S146T	possibly damaging	Het
Tmem156	A	G	5: 65,091,527 (GRCm38)	F10S	probably benign	Het
Tmem63c	G	T	12: 87,057,180 (GRCm38)	A68S	possibly damaging	Het
Tnfrsf21	T	C	17: 43,085,504 (GRCm38)	C560R	probably damaging	Het
Trav10n	C	T	14: 53,122,133 (GRCm38)	T7I	probably benign	Het
Ttc38	C	T	15: 85,838,746 (GRCm38)	R132W	probably benign	Het
Tvp23a	T	C	16: 10,427,411 (GRCm38)	K108R	probably benign	Het
Vmn1r233	T	C	17: 20,994,617 (GRCm38)	M24V	probably benign	Het
Vmn1r88	T	A	7: 13,178,524 (GRCm38)	L269*	probably null	Het
Vmn2r101	T	A	17: 19,612,025 (GRCm38)	M761K	probably damaging	Het
Vps13b	C	T	15: 35,910,718 (GRCm38)	Q3543*	probably null	Het
Wdr37	T	C	13: 8,854,029 (GRCm38)	E101G	possibly damaging	Het
Zc3hc1	A	G	6: 30,374,900 (GRCm38)	V214A	probably benign	Het
Zcchc9	A	T	13: 91,800,609 (GRCm38)		probably null	Het
Zdbf2	A	T	1: 63,308,792 (GRCm38)	Q2110L	possibly damaging	Het
Zfp516	T	G	18: 82,957,111 (GRCm38)	L478R	possibly damaging	Het

Other mutations in Krt83

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Krt83	APN	15	101,488,211 (GRCm38)	missense	probably benign	0.17
IGL01315:Krt83	APN	15	101,486,967 (GRCm38)	splice site	probably benign
IGL01702:Krt83	APN	15	101,491,218 (GRCm38)	missense	probably benign	0.18
IGL02123:Krt83	APN	15	101,487,585 (GRCm38)	missense	possibly damaging	0.49
IGL02353:Krt83	APN	15	101,485,458 (GRCm38)	missense	probably benign
IGL02360:Krt83	APN	15	101,485,458 (GRCm38)	missense	probably benign
IGL02395:Krt83	APN	15	101,487,952 (GRCm38)	missense	probably benign	0.18
IGL02633:Krt83	APN	15	101,491,214 (GRCm38)	missense	probably damaging	1.00
R0357:Krt83	UTSW	15	101,487,019 (GRCm38)	missense	probably benign	0.17
R0650:Krt83	UTSW	15	101,487,040 (GRCm38)	missense	probably damaging	0.99
R0928:Krt83	UTSW	15	101,491,280 (GRCm38)	missense	probably benign	0.00
R1126:Krt83	UTSW	15	101,487,482 (GRCm38)	missense	probably damaging	0.98
R1196:Krt83	UTSW	15	101,491,433 (GRCm38)	missense	probably benign	0.03
R1252:Krt83	UTSW	15	101,487,830 (GRCm38)	missense	probably damaging	1.00
R1513:Krt83	UTSW	15	101,489,657 (GRCm38)	missense	probably benign	0.30
R1612:Krt83	UTSW	15	101,488,211 (GRCm38)	missense	probably benign	0.17
R1870:Krt83	UTSW	15	101,487,190 (GRCm38)	missense	probably benign
R2173:Krt83	UTSW	15	101,487,937 (GRCm38)	missense	probably damaging	0.98
R2432:Krt83	UTSW	15	101,488,156 (GRCm38)	nonsense	probably null
R2568:Krt83	UTSW	15	101,487,827 (GRCm38)	missense	possibly damaging	0.67
R2696:Krt83	UTSW	15	101,487,009 (GRCm38)	missense	probably benign	0.01
R3508:Krt83	UTSW	15	101,488,158 (GRCm38)	missense	probably benign	0.04
R4364:Krt83	UTSW	15	101,487,514 (GRCm38)	missense	probably benign
R4366:Krt83	UTSW	15	101,487,514 (GRCm38)	missense	probably benign
R4606:Krt83	UTSW	15	101,487,049 (GRCm38)	missense	probably benign	0.18
R4784:Krt83	UTSW	15	101,487,956 (GRCm38)	missense	probably damaging	1.00
R4987:Krt83	UTSW	15	101,487,009 (GRCm38)	missense	probably benign
R5008:Krt83	UTSW	15	101,491,224 (GRCm38)	missense	probably damaging	1.00
R5101:Krt83	UTSW	15	101,487,510 (GRCm38)	missense	probably benign	0.14
R5367:Krt83	UTSW	15	101,486,994 (GRCm38)	missense	probably damaging	1.00
R5516:Krt83	UTSW	15	101,487,121 (GRCm38)	nonsense	probably null
R5949:Krt83	UTSW	15	101,487,595 (GRCm38)	missense	probably damaging	0.99
R5972:Krt83	UTSW	15	101,487,586 (GRCm38)	missense	probably benign
R6036:Krt83	UTSW	15	101,487,531 (GRCm38)	missense	possibly damaging	0.78
R6036:Krt83	UTSW	15	101,487,531 (GRCm38)	missense	possibly damaging	0.78
R6135:Krt83	UTSW	15	101,487,534 (GRCm38)	missense	probably damaging	1.00
R7151:Krt83	UTSW	15	101,489,648 (GRCm38)	missense	probably damaging	1.00
R7186:Krt83	UTSW	15	101,487,202 (GRCm38)	splice site	probably null
R7297:Krt83	UTSW	15	101,489,647 (GRCm38)	missense	probably benign	0.42
R7708:Krt83	UTSW	15	101,487,932 (GRCm38)	missense	probably benign	0.00
R7796:Krt83	UTSW	15	101,485,984 (GRCm38)	missense	possibly damaging	0.95
R8172:Krt83	UTSW	15	101,485,403 (GRCm38)	missense	probably benign	0.25
R8669:Krt83	UTSW	15	101,487,896 (GRCm38)	missense	probably benign	0.00
R8771:Krt83	UTSW	15	101,487,898 (GRCm38)	missense	probably benign	0.00
R9478:Krt83	UTSW	15	101,487,568 (GRCm38)	missense	probably benign	0.06
R9592:Krt83	UTSW	15	101,488,179 (GRCm38)	missense	probably benign
R9629:Krt83	UTSW	15	101,491,167 (GRCm38)	missense	probably benign	0.01
R9642:Krt83	UTSW	15	101,487,193 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCCACTGTCTCATCTAAGGACAG -3'
(R):5'- AAGAGACCGACTTCCTGAGGAG -3'

Sequencing Primer
(F):5'- GACAGATGTCCTGACCTCTCAC -3'
(R):5'- CCGACTTCCTGAGGAGAATGTATG -3'

Posted On

2016-06-24