Mutagenetix > Incidental Mutation

Incidental Mutation 'R1651:Krt84'

186421

Institutional Source

Beutler Lab

Gene Symbol

Krt84

Ensembl Gene

ENSMUSG00000044294

Gene Name

keratin 84

Synonyms

Krt2-16, Krt2-3, HRb-1

MMRRC Submission

039687-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R1651 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101433461-101441255 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 101434398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 523 (S523F)

Ref Sequence

ENSEMBL: ENSMUSP00000023720 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023720]

AlphaFold

Q99M73

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023720
AA Change: S523F

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023720
Gene: ENSMUSG00000044294
AA Change: S523F

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	16	169	3.9e-39	PFAM
Filament	172	483	4.05e-163	SMART
low complexity region	535	560	N/A	INTRINSIC
low complexity region	574	602	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229893

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (66/68)

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 is contained primarily in the filiform tongue papilla, among other hair keratins. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	T	A	2: 150,690,341 (GRCm39)	Q118L	probably benign	Het
Acss1	A	T	2: 150,480,357 (GRCm39)	V238D	possibly damaging	Het
Adgrv1	T	C	13: 81,635,972 (GRCm39)	I3512M	probably benign	Het
Arhgap32	A	G	9: 32,171,096 (GRCm39)	Q1292R	probably damaging	Het
Bpnt2	A	G	4: 4,792,737 (GRCm39)	F123L	probably damaging	Het
Caskin1	C	T	17: 24,721,186 (GRCm39)	R509C	possibly damaging	Het
Cd47	T	C	16: 49,714,591 (GRCm39)	V147A	possibly damaging	Het
Cdc20b	T	A	13: 113,215,258 (GRCm39)	Y275*	probably null	Het
Chd4	A	G	6: 125,100,547 (GRCm39)	D1745G	possibly damaging	Het
Crmp1	T	A	5: 37,430,783 (GRCm39)	S250T	probably damaging	Het
Crybg2	A	G	4: 133,802,214 (GRCm39)	K1125E	probably benign	Het
Crybg2	C	A	4: 133,802,136 (GRCm39)	P1099T	possibly damaging	Het
Csf1r	T	A	18: 61,243,473 (GRCm39)	I163N	possibly damaging	Het
Dicer1	T	C	12: 104,675,064 (GRCm39)	T733A	probably damaging	Het
Edar	A	G	10: 58,441,875 (GRCm39)	V339A	possibly damaging	Het
Efcab3	A	G	11: 104,611,492 (GRCm39)	R445G	probably benign	Het
Efcab6	A	G	15: 83,755,194 (GRCm39)	I1374T	possibly damaging	Het
Erbb2	G	A	11: 98,324,283 (GRCm39)	R757K	probably damaging	Het
Fam98a	A	G	17: 75,854,710 (GRCm39)	V33A	probably benign	Het
Farp2	T	C	1: 93,531,191 (GRCm39)		probably null	Het
Fcmr	A	G	1: 130,805,988 (GRCm39)	T315A	probably benign	Het
Gdf9	G	A	11: 53,324,576 (GRCm39)	R115Q	probably damaging	Het
Gm22697+Rbm27	AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC	AGGTCCCGGCCCAGGCCC	18: 42,434,948 (GRCm39)		probably benign	Het
H2-M10.1	A	G	17: 36,636,648 (GRCm39)	V52A	probably damaging	Het
Hspg2	T	A	4: 137,260,748 (GRCm39)	C1582*	probably null	Het
Icam2	C	T	11: 106,268,782 (GRCm39)	V229M	probably damaging	Het
Itga7	C	T	10: 128,784,693 (GRCm39)	P735L	probably benign	Het
Kbtbd3	C	A	9: 4,330,589 (GRCm39)	P321Q	possibly damaging	Het
Kcnma1	T	A	14: 23,364,262 (GRCm39)	T997S	probably damaging	Het
Kifc5b	T	C	17: 27,144,504 (GRCm39)	F541S	probably damaging	Het
Klhdc9	C	A	1: 171,188,016 (GRCm39)	V72L	probably benign	Het
Lrrtm4	A	G	6: 79,999,511 (GRCm39)	T308A	probably benign	Het
Map1b	T	C	13: 99,569,091 (GRCm39)	E1210G	unknown	Het
Mocs3	A	G	2: 168,073,489 (GRCm39)	Y312C	probably damaging	Het
Mrps7	G	T	11: 115,495,581 (GRCm39)	E40*	probably null	Het
Msantd5f1	A	T	4: 73,605,621 (GRCm39)	N344I	possibly damaging	Het
Msln	T	C	17: 25,972,382 (GRCm39)	H50R	probably benign	Het
Myb	A	G	10: 21,002,097 (GRCm39)	F748S	probably damaging	Het
Myo10	C	A	15: 25,742,455 (GRCm39)	H590N	probably damaging	Het
Naip5	T	C	13: 100,358,419 (GRCm39)	E939G	probably benign	Het
Nbeal1	T	A	1: 60,239,278 (GRCm39)	V107E	probably damaging	Het
Nrcam	A	T	12: 44,623,462 (GRCm39)	N1011I	probably damaging	Het
Or14c44	A	G	7: 86,057,078 (GRCm39)		probably benign	Het
Or1ak2	T	C	2: 36,827,335 (GRCm39)	L68P	probably damaging	Het
Or4c118	A	C	2: 88,975,346 (GRCm39)	V7G	probably damaging	Het
Pcgf6	A	T	19: 47,037,441 (GRCm39)	C153S	probably damaging	Het
Phrf1	T	C	7: 140,817,434 (GRCm39)	V81A	probably benign	Het
Ppp4r4	A	G	12: 103,550,331 (GRCm39)	N36D	probably benign	Het
Prkch	A	G	12: 73,805,775 (GRCm39)	T517A	possibly damaging	Het
Rasal1	A	T	5: 120,790,910 (GRCm39)	K33*	probably null	Het
Rp1l1	G	A	14: 64,268,442 (GRCm39)	E1343K	probably damaging	Het
Serpinb6e	T	C	13: 34,020,406 (GRCm39)	D234G	probably benign	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Smyd3	T	G	1: 178,871,441 (GRCm39)	I313L	probably benign	Het
Tdrd9	C	A	12: 111,991,140 (GRCm39)	D543E	probably damaging	Het
Tet1	A	G	10: 62,715,453 (GRCm39)	L114P	probably damaging	Het
Tmprss11c	G	A	5: 86,387,283 (GRCm39)	P212S	probably damaging	Het
Tmx2	A	T	2: 84,506,461 (GRCm39)	M77K	probably damaging	Het
Traf3	T	G	12: 111,228,470 (GRCm39)	D560E	probably damaging	Het
Trappc12	C	T	12: 28,741,776 (GRCm39)	M711I	probably benign	Het
Trim2	A	G	3: 84,074,957 (GRCm39)		probably null	Het
Vmn2r18	A	G	5: 151,485,464 (GRCm39)	S677P	probably damaging	Het
Wdr7	T	A	18: 63,853,847 (GRCm39)	L60*	probably null	Het
Wdr93	T	C	7: 79,399,830 (GRCm39)	F140L	probably benign	Het
Zfp638	A	G	6: 83,931,719 (GRCm39)	T802A	probably benign	Het

Other mutations in Krt84

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Krt84	APN	15	101,437,170 (GRCm39)	missense	probably damaging	1.00
IGL00227:Krt84	APN	15	101,436,208 (GRCm39)	missense	probably benign	0.08
IGL01352:Krt84	APN	15	101,437,209 (GRCm39)	missense	probably damaging	1.00
IGL01523:Krt84	APN	15	101,437,179 (GRCm39)	missense	probably damaging	1.00
IGL01797:Krt84	APN	15	101,436,915 (GRCm39)	missense	possibly damaging	0.93
IGL01874:Krt84	APN	15	101,436,239 (GRCm39)	missense	probably damaging	1.00
IGL02044:Krt84	APN	15	101,436,931 (GRCm39)	missense	probably damaging	1.00
IGL02183:Krt84	APN	15	101,440,791 (GRCm39)	missense	unknown
IGL02455:Krt84	APN	15	101,434,170 (GRCm39)	missense	unknown
IGL03023:Krt84	APN	15	101,436,880 (GRCm39)	missense	possibly damaging	0.74
R0102:Krt84	UTSW	15	101,437,138 (GRCm39)	missense	probably damaging	0.99
R0102:Krt84	UTSW	15	101,437,138 (GRCm39)	missense	probably damaging	0.99
R0103:Krt84	UTSW	15	101,438,671 (GRCm39)	missense	probably damaging	1.00
R0423:Krt84	UTSW	15	101,437,155 (GRCm39)	missense	probably damaging	1.00
R0704:Krt84	UTSW	15	101,441,112 (GRCm39)	missense	probably benign	0.00
R1500:Krt84	UTSW	15	101,438,659 (GRCm39)	missense	probably damaging	0.99
R1647:Krt84	UTSW	15	101,434,398 (GRCm39)	missense	possibly damaging	0.95
R1650:Krt84	UTSW	15	101,434,398 (GRCm39)	missense	possibly damaging	0.95
R1652:Krt84	UTSW	15	101,434,398 (GRCm39)	missense	possibly damaging	0.95
R1731:Krt84	UTSW	15	101,434,398 (GRCm39)	missense	possibly damaging	0.95
R1999:Krt84	UTSW	15	101,438,019 (GRCm39)	missense	possibly damaging	0.76
R2106:Krt84	UTSW	15	101,439,301 (GRCm39)	missense	probably damaging	1.00
R2150:Krt84	UTSW	15	101,438,019 (GRCm39)	missense	possibly damaging	0.76
R2212:Krt84	UTSW	15	101,440,973 (GRCm39)	missense	probably benign	0.01
R2397:Krt84	UTSW	15	101,438,689 (GRCm39)	missense	probably benign	0.18
R4722:Krt84	UTSW	15	101,436,846 (GRCm39)	missense	probably damaging	1.00
R4926:Krt84	UTSW	15	101,438,689 (GRCm39)	missense	probably benign	0.18
R5634:Krt84	UTSW	15	101,437,084 (GRCm39)	missense	probably benign	0.30
R5807:Krt84	UTSW	15	101,438,647 (GRCm39)	missense	probably damaging	1.00
R5978:Krt84	UTSW	15	101,438,665 (GRCm39)	missense	probably damaging	1.00
R6524:Krt84	UTSW	15	101,441,187 (GRCm39)	missense	unknown
R7032:Krt84	UTSW	15	101,436,924 (GRCm39)	missense	probably benign	0.13
R7155:Krt84	UTSW	15	101,440,689 (GRCm39)	missense	probably damaging	1.00
R7159:Krt84	UTSW	15	101,438,044 (GRCm39)	nonsense	probably null
R7882:Krt84	UTSW	15	101,436,826 (GRCm39)	missense	probably benign	0.04
R8492:Krt84	UTSW	15	101,438,051 (GRCm39)	missense	probably damaging	1.00
R8886:Krt84	UTSW	15	101,437,221 (GRCm39)	missense	possibly damaging	0.72
R8944:Krt84	UTSW	15	101,437,183 (GRCm39)	missense	probably benign	0.27
R9076:Krt84	UTSW	15	101,438,098 (GRCm39)	missense	probably damaging	0.96
R9081:Krt84	UTSW	15	101,440,814 (GRCm39)	missense	unknown
R9082:Krt84	UTSW	15	101,440,814 (GRCm39)	missense	unknown
R9141:Krt84	UTSW	15	101,440,974 (GRCm39)	missense	probably benign
R9535:Krt84	UTSW	15	101,438,016 (GRCm39)	critical splice donor site	probably null
Z1177:Krt84	UTSW	15	101,434,417 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AGAATCCTTCAGGAGGACATGGGC -3'
(R):5'- ATGGGCATGAGCAAACACCCAG -3'

Sequencing Primer
(F):5'- AAGAGTGGCTGGAGATCCCTC -3'
(R):5'- CAGGGATACTACAGCATCTGTC -3'

Posted On

2014-05-09