Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02183:Krt84'

284327

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt84

Ensembl Gene

ENSMUSG00000044294

Gene Name

keratin 84

Synonyms

Krt2-3, Krt2-16, HRb-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

IGL02183

Quality Score

Status

Chromosome

Chromosomal Location

101525026-101532820 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101532356 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 134 (I134V)

Ref Sequence

ENSEMBL: ENSMUSP00000023720 (fasta)

Gene Model

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

AlphaFold

Q99M73

Predicted Effect

unknown
Transcript: ENSMUST00000023720
AA Change: I134V

SMART Domains

Protein: ENSMUSP00000023720
Gene: ENSMUSG00000044294
AA Change: I134V

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

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 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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	G	A	1: 37,625,378	P480S	possibly damaging	Het
Ace2	T	A	X: 164,177,469		probably benign	Het
Acsm4	A	T	7: 119,693,852		probably null	Het
Apcdd1	T	C	18: 62,951,854	M374T	probably damaging	Het
Arid4b	A	G	13: 14,169,990	E551G	possibly damaging	Het
Bag4	A	T	8: 25,768,030	L423Q	probably damaging	Het
Celf1	C	T	2: 91,001,486	P96S	probably damaging	Het
Cry2	G	A	2: 92,413,039	R486W	probably damaging	Het
Csn1s1	G	A	5: 87,677,618	S228N	possibly damaging	Het
Ctnnd2	A	G	15: 31,020,740	Y1124C	probably damaging	Het
Cyp2j7	T	C	4: 96,230,147		probably benign	Het
Dock7	A	T	4: 98,958,991	C1695S	possibly damaging	Het
Elmo3	T	C	8: 105,308,323	L415P	probably benign	Het
Entpd5	A	G	12: 84,380,380		probably benign	Het
Gm7534	A	G	4: 134,201,980	L338S	probably benign	Het
Gpatch11	T	C	17: 78,842,231		probably null	Het
Gprin3	C	A	6: 59,353,162	R720I	possibly damaging	Het
Gria4	T	G	9: 4,502,460	T358P	probably damaging	Het
Hcn2	T	C	10: 79,724,813		probably null	Het
Hivep3	A	G	4: 120,132,024	T1891A	probably benign	Het
Hmgcr	A	G	13: 96,663,127	V153A	probably damaging	Het
Ifnar1	T	C	16: 91,505,146	V503A	possibly damaging	Het
Igf2r	G	A	17: 12,698,516		probably benign	Het
Ighg2b	A	G	12: 113,307,829	S35P	unknown	Het
Jmy	T	C	13: 93,499,242	D22G	possibly damaging	Het
Kdm5b	T	C	1: 134,624,931	I1215T	probably benign	Het
Magi3	T	A	3: 104,085,347	M270L	probably benign	Het
Maneal	G	A	4: 124,860,416	T198I	probably benign	Het
Map7d3	A	G	X: 56,822,231		probably benign	Het
Myh7	T	A	14: 54,974,731	T1519S	probably benign	Het
Myo5a	T	C	9: 75,167,236		probably benign	Het
Naip5	T	C	13: 100,221,642	S1029G	probably benign	Het
Olfr1162	T	C	2: 88,049,989	T212A	possibly damaging	Het
Olfr1205	A	T	2: 88,832,028	I304F	probably benign	Het
Olfr125	G	T	17: 37,835,413	C138F	probably damaging	Het
Olfr1279	T	A	2: 111,306,418	V71E	probably damaging	Het
Olfr178	T	A	16: 58,889,821	Q133L	probably benign	Het
Pald1	A	T	10: 61,347,141		probably benign	Het
Pan2	T	A	10: 128,309,075	H230Q	possibly damaging	Het
Pcdh9	T	C	14: 93,886,284	I817V	probably benign	Het
Piezo2	A	G	18: 63,020,634	S2547P	probably benign	Het
Ppargc1b	T	A	18: 61,309,096		probably null	Het
Prdm6	T	C	18: 53,464,677		probably benign	Het
Prr5l	A	T	2: 101,772,120		probably benign	Het
Rab3gap2	T	A	1: 185,271,468	L1020*	probably null	Het
Rhbdf1	T	C	11: 32,210,543	H669R	probably damaging	Het
Rnf150	A	T	8: 83,003,605	I255F	probably damaging	Het
Rnf17	T	A	14: 56,507,868	D1360E	probably null	Het
Sag	T	C	1: 87,828,475		probably null	Het
Scn2a	C	T	2: 65,671,603	T90I	probably benign	Het
Scn9a	T	A	2: 66,484,611		probably benign	Het
Serpinb13	T	C	1: 106,998,910	M212T	probably damaging	Het
Slc39a14	C	T	14: 70,306,685	G484E	possibly damaging	Het
Slco1a1	A	T	6: 141,921,943		probably benign	Het
Slitrk3	A	T	3: 73,049,979	Y487N	probably damaging	Het
Stkld1	T	C	2: 26,946,659	M279T	probably benign	Het
Tmem161b	T	C	13: 84,272,254	Y125H	probably damaging	Het
Tmem71	A	G	15: 66,555,025		probably benign	Het
Ubxn7	T	C	16: 32,369,383	F142L	probably damaging	Het
Vmn2r22	A	G	6: 123,638,004	L209P	probably damaging	Het
Wdr73	A	T	7: 80,893,760	W136R	probably damaging	Het
Wif1	C	T	10: 121,075,276	R107C	probably damaging	Het
Ythdf2	G	T	4: 132,205,574	L92M	probably benign	Het
Zfp53	T	A	17: 21,500,250	I34N	possibly damaging	Het

Other mutations in Krt84

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Krt84	APN	15	101528735	missense	probably damaging	1.00
IGL00227:Krt84	APN	15	101527773	missense	probably benign	0.08
IGL01352:Krt84	APN	15	101528774	missense	probably damaging	1.00
IGL01523:Krt84	APN	15	101528744	missense	probably damaging	1.00
IGL01797:Krt84	APN	15	101528480	missense	possibly damaging	0.93
IGL01874:Krt84	APN	15	101527804	missense	probably damaging	1.00
IGL02044:Krt84	APN	15	101528496	missense	probably damaging	1.00
IGL02455:Krt84	APN	15	101525735	missense	unknown
IGL03023:Krt84	APN	15	101528445	missense	possibly damaging	0.74
R0102:Krt84	UTSW	15	101528703	missense	probably damaging	0.99
R0102:Krt84	UTSW	15	101528703	missense	probably damaging	0.99
R0103:Krt84	UTSW	15	101530236	missense	probably damaging	1.00
R0423:Krt84	UTSW	15	101528720	missense	probably damaging	1.00
R0704:Krt84	UTSW	15	101532677	missense	probably benign	0.00
R1500:Krt84	UTSW	15	101530224	missense	probably damaging	0.99
R1647:Krt84	UTSW	15	101525963	missense	possibly damaging	0.95
R1650:Krt84	UTSW	15	101525963	missense	possibly damaging	0.95
R1651:Krt84	UTSW	15	101525963	missense	possibly damaging	0.95
R1652:Krt84	UTSW	15	101525963	missense	possibly damaging	0.95
R1731:Krt84	UTSW	15	101525963	missense	possibly damaging	0.95
R1999:Krt84	UTSW	15	101529584	missense	possibly damaging	0.76
R2106:Krt84	UTSW	15	101530866	missense	probably damaging	1.00
R2150:Krt84	UTSW	15	101529584	missense	possibly damaging	0.76
R2212:Krt84	UTSW	15	101532538	missense	probably benign	0.01
R2397:Krt84	UTSW	15	101530254	missense	probably benign	0.18
R4722:Krt84	UTSW	15	101528411	missense	probably damaging	1.00
R4926:Krt84	UTSW	15	101530254	missense	probably benign	0.18
R5634:Krt84	UTSW	15	101528649	missense	probably benign	0.30
R5807:Krt84	UTSW	15	101530212	missense	probably damaging	1.00
R5978:Krt84	UTSW	15	101530230	missense	probably damaging	1.00
R6524:Krt84	UTSW	15	101532752	missense	unknown
R7032:Krt84	UTSW	15	101528489	missense	probably benign	0.13
R7155:Krt84	UTSW	15	101532254	missense	probably damaging	1.00
R7159:Krt84	UTSW	15	101529609	nonsense	probably null
R7882:Krt84	UTSW	15	101528391	missense	probably benign	0.04
R8492:Krt84	UTSW	15	101529616	missense	probably damaging	1.00
R8886:Krt84	UTSW	15	101528786	missense	possibly damaging	0.72
R8944:Krt84	UTSW	15	101528748	missense	probably benign	0.27
R9076:Krt84	UTSW	15	101529663	missense	probably damaging	0.96
R9081:Krt84	UTSW	15	101532379	missense	unknown
R9082:Krt84	UTSW	15	101532379	missense	unknown
R9141:Krt84	UTSW	15	101532539	missense	probably benign
R9535:Krt84	UTSW	15	101529581	critical splice donor site	probably null
Z1177:Krt84	UTSW	15	101525982	frame shift	probably null

Posted On

2015-04-16