Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02268:Krt32'

287022

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt32

Ensembl Gene

ENSMUSG00000046095

Gene Name

keratin 32

Synonyms

mHa2, Krt1-2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL02268

Quality Score

Status

Chromosome

Chromosomal Location

99971674-99979095 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99978967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 29 (M29K)

Ref Sequence

ENSEMBL: ENSMUSP00000103042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103127] [ENSMUST00000107419]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000103127

SMART Domains

Protein: ENSMUSP00000099416
Gene: ENSMUSG00000048013

Domain	Start	End	E-Value	Type
low complexity region	33	43	N/A	INTRINSIC
low complexity region	74	86	N/A	INTRINSIC
Filament	96	407	3.32e-159	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107419
AA Change: M29K

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103042
Gene: ENSMUSG00000046095
AA Change: M29K

Domain	Start	End	E-Value	Type
low complexity region	11	23	N/A	INTRINSIC
Filament	100	411	5.4e-150	SMART
low complexity region	435	448	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136820

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139873

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173988

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 I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	C	T	10: 28,862,242 (GRCm39)	C16Y	probably benign	Het
Abca13	C	T	11: 9,240,626 (GRCm39)	L830F	probably benign	Het
Apcdd1	T	C	18: 63,083,259 (GRCm39)	V363A	probably damaging	Het
Atosb	T	A	4: 43,036,468 (GRCm39)	R88*	probably null	Het
Cachd1	A	G	4: 100,809,294 (GRCm39)	I260V	possibly damaging	Het
Cass4	T	A	2: 172,268,962 (GRCm39)	M350K	possibly damaging	Het
Ccnjl	A	G	11: 43,470,615 (GRCm39)	T128A	probably benign	Het
Cd6	C	T	19: 10,773,752 (GRCm39)	G361D	probably benign	Het
Cdh22	T	C	2: 164,965,639 (GRCm39)		probably benign	Het
Ces2h	T	A	8: 105,746,572 (GRCm39)	F475Y	probably benign	Het
Col15a1	A	T	4: 47,245,380 (GRCm39)	T44S	probably damaging	Het
Cplx3	C	T	9: 57,509,741 (GRCm39)	E86K	possibly damaging	Het
Crbn	A	G	6: 106,772,004 (GRCm39)	V100A	possibly damaging	Het
D430041D05Rik	C	A	2: 104,071,500 (GRCm39)	V1267L	possibly damaging	Het
Ecrg4	T	A	1: 43,770,111 (GRCm39)	C23S	probably damaging	Het
Elapor1	C	A	3: 108,375,113 (GRCm39)	A585S	probably benign	Het
F930017D23Rik	A	G	10: 43,480,405 (GRCm39)		noncoding transcript	Het
Fastkd3	A	G	13: 68,731,796 (GRCm39)	D39G	probably damaging	Het
Golgb1	T	A	16: 36,733,490 (GRCm39)	S912R	probably benign	Het
H2-T24	T	C	17: 36,328,264 (GRCm39)	Y73C	probably damaging	Het
Ifna9	A	T	4: 88,510,591 (GRCm39)	L11*	probably null	Het
Igsf10	A	T	3: 59,238,573 (GRCm39)	L536*	probably null	Het
Itprid1	A	T	6: 55,861,673 (GRCm39)		probably benign	Het
Kcnma1	A	T	14: 23,593,144 (GRCm39)	I215K	probably damaging	Het
Kdm4c	A	C	4: 74,291,953 (GRCm39)	I857L	possibly damaging	Het
Kptn	A	T	7: 15,857,786 (GRCm39)	H229L	probably benign	Het
Lama2	A	G	10: 26,877,112 (GRCm39)		probably benign	Het
Lpcat2b	A	C	5: 107,581,982 (GRCm39)	D437A	probably damaging	Het
Lrrc8c	T	C	5: 105,755,764 (GRCm39)	L513P	probably damaging	Het
Mon1a	T	C	9: 107,778,997 (GRCm39)	V407A	possibly damaging	Het
Myo5c	C	T	9: 75,153,519 (GRCm39)	P135L	probably damaging	Het
Myof	C	T	19: 37,942,877 (GRCm39)	V218M	possibly damaging	Het
Myof	T	A	19: 37,963,311 (GRCm39)	I429F	possibly damaging	Het
Nbas	A	G	12: 13,455,398 (GRCm39)	D1204G	possibly damaging	Het
Nckap1	G	A	2: 80,358,962 (GRCm39)	P560S	probably benign	Het
Notch2	G	A	3: 98,044,713 (GRCm39)	G1545D	probably damaging	Het
Ntrk1	G	A	3: 87,688,838 (GRCm39)	H572Y	probably damaging	Het
Or2t44	T	C	11: 58,677,551 (GRCm39)	F164L	probably benign	Het
Or7e177	T	C	9: 20,211,588 (GRCm39)	S31P	probably damaging	Het
Pate8	T	C	9: 36,493,166 (GRCm39)	Y52C	possibly damaging	Het
Pcdh15	A	T	10: 74,178,504 (GRCm39)	D587V	probably damaging	Het
Pik3cb	T	C	9: 98,928,609 (GRCm39)	Y882C	probably benign	Het
Plch1	T	A	3: 63,606,704 (GRCm39)	*1074C	probably null	Het
Plcxd1	T	C	5: 110,248,140 (GRCm39)		probably benign	Het
Ppp2r2d	A	G	7: 138,474,700 (GRCm39)	N27S	probably null	Het
Prkar2a	A	G	9: 108,624,152 (GRCm39)	M390V	probably benign	Het
Rab3gap1	A	G	1: 127,796,695 (GRCm39)	T18A	probably damaging	Het
Ranbp2	T	C	10: 58,329,475 (GRCm39)		probably benign	Het
Rasl12	T	C	9: 65,305,946 (GRCm39)	S34P	probably damaging	Het
Rpusd3	A	T	6: 113,395,818 (GRCm39)	L65Q	possibly damaging	Het
Rtf2	A	G	2: 172,310,639 (GRCm39)	K290R	probably damaging	Het
Rwdd4a	T	A	8: 48,003,731 (GRCm39)	L179*	probably null	Het
Scgb1b24	A	G	7: 33,444,388 (GRCm39)	E87G	possibly damaging	Het
Sgo2a	A	G	1: 58,056,881 (GRCm39)	I1022V	probably benign	Het
Smg1	A	C	7: 117,781,764 (GRCm39)	I1174M	probably benign	Het
Spata17	A	T	1: 186,872,595 (GRCm39)	M72K	probably damaging	Het
Synpo2	G	A	3: 122,910,632 (GRCm39)	P338S	probably damaging	Het
Tpi1	G	A	6: 124,791,087 (GRCm39)	T50I	probably benign	Het
Trpm1	A	G	7: 63,867,362 (GRCm39)	E354G	probably damaging	Het
Uba2	A	G	7: 33,842,161 (GRCm39)		probably null	Het
Wnk1	G	A	6: 119,914,334 (GRCm39)	R1823*	probably null	Het
Zfp248	A	C	6: 118,430,801 (GRCm39)		probably benign	Het
Zfp51	A	T	17: 21,683,681 (GRCm39)	K99*	probably null	Het

Other mutations in Krt32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01089:Krt32	APN	11	99,978,605 (GRCm39)	missense	probably benign	0.23
IGL01454:Krt32	APN	11	99,974,907 (GRCm39)	missense	probably damaging	1.00
IGL02502:Krt32	APN	11	99,978,749 (GRCm39)	missense	probably damaging	1.00
IGL02967:Krt32	APN	11	99,974,876 (GRCm39)	missense	possibly damaging	0.93
IGL02799:Krt32	UTSW	11	99,978,733 (GRCm39)	missense	possibly damaging	0.54
R0840:Krt32	UTSW	11	99,972,068 (GRCm39)	missense	probably benign	0.00
R1503:Krt32	UTSW	11	99,974,936 (GRCm39)	critical splice acceptor site	probably null
R1944:Krt32	UTSW	11	99,975,670 (GRCm39)	critical splice acceptor site	probably null
R1945:Krt32	UTSW	11	99,975,670 (GRCm39)	critical splice acceptor site	probably null
R2426:Krt32	UTSW	11	99,977,192 (GRCm39)	missense	possibly damaging	0.76
R3774:Krt32	UTSW	11	99,978,947 (GRCm39)	missense	probably benign	0.00
R3775:Krt32	UTSW	11	99,978,947 (GRCm39)	missense	probably benign	0.00
R3776:Krt32	UTSW	11	99,978,947 (GRCm39)	missense	probably benign	0.00
R5522:Krt32	UTSW	11	99,977,497 (GRCm39)	critical splice donor site	probably null
R5794:Krt32	UTSW	11	99,975,812 (GRCm39)	missense	probably damaging	0.99
R6109:Krt32	UTSW	11	99,978,791 (GRCm39)	missense	probably benign	0.01
R6994:Krt32	UTSW	11	99,977,271 (GRCm39)	missense	probably damaging	1.00
R7375:Krt32	UTSW	11	99,972,050 (GRCm39)	missense	probably benign	0.18
R7577:Krt32	UTSW	11	99,972,047 (GRCm39)	missense	probably benign	0.00
R8249:Krt32	UTSW	11	99,977,548 (GRCm39)	missense	probably benign	0.00
R9207:Krt32	UTSW	11	99,977,580 (GRCm39)	missense	possibly damaging	0.61
R9303:Krt32	UTSW	11	99,972,029 (GRCm39)	missense	probably benign	0.00
R9305:Krt32	UTSW	11	99,972,029 (GRCm39)	missense	probably benign	0.00
R9684:Krt32	UTSW	11	99,977,308 (GRCm39)	missense	probably damaging	1.00
Z1088:Krt32	UTSW	11	99,979,042 (GRCm39)	missense	probably benign
Z1177:Krt32	UTSW	11	99,974,895 (GRCm39)	missense	possibly damaging	0.95

Posted On

2015-04-16