Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01089:Krt32'

52262

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt32

Ensembl Gene

ENSMUSG00000046095

Gene Name

keratin 32

Synonyms

mHa2, Krt1-2

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL01089

Quality Score

Status

Chromosome

Chromosomal Location

100080848-100088226 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100087779 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 150 (S150P)

Ref Sequence

ENSEMBL: ENSMUSP00000103042 (fasta)

Gene Model

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

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: S150P

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103042
Gene: ENSMUSG00000046095
AA Change: S150P

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	G	11: 76,003,337	E180G	possibly damaging	Het
Actr8	T	C	14: 29,988,335	L353S	probably damaging	Het
Adgrf2	G	A	17: 42,710,158	P592S	probably damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Afap1l2	A	C	19: 56,913,411		probably null	Het
Asnsd1	G	A	1: 53,348,277	P64S	probably damaging	Het
Bmt2	A	G	6: 13,663,271	M76T	probably damaging	Het
Clca3b	A	T	3: 144,823,522	V797D	probably benign	Het
Cog2	T	C	8: 124,545,243	S499P	probably benign	Het
Cyp27a1	A	T	1: 74,731,938	Y94F	possibly damaging	Het
D430042O09Rik	A	G	7: 125,795,313	E187G	probably damaging	Het
D630045J12Rik	A	G	6: 38,136,963	S1765P	probably benign	Het
Fam149a	A	G	8: 45,348,527	L519P	possibly damaging	Het
Fam171a2	G	A	11: 102,437,848	A695V	possibly damaging	Het
Fat1	T	A	8: 45,017,857	V1566E	probably damaging	Het
Flvcr1	T	G	1: 191,013,390	N361H	probably damaging	Het
Gm1110	T	C	9: 26,881,860	N540S	probably benign	Het
Kcns3	T	A	12: 11,091,571	T376S	possibly damaging	Het
Lrtm2	C	T	6: 119,320,792	R96Q	possibly damaging	Het
Mctp1	A	G	13: 77,020,798	E838G	probably damaging	Het
Mios	T	C	6: 8,234,363		probably null	Het
Olfr338	A	T	2: 36,377,166	Y130F	probably damaging	Het
Phldb1	T	A	9: 44,707,887	K167*	probably null	Het
Pkhd1l1	A	G	15: 44,483,869		probably benign	Het
Plaa	A	G	4: 94,574,047	V531A	probably benign	Het
Psmb2	A	G	4: 126,684,206	Y59C	probably damaging	Het
Ptprg	A	G	14: 12,215,286	H1091R	probably damaging	Het
Rbm44	T	A	1: 91,168,697	V926D	possibly damaging	Het
Rgma	G	T	7: 73,409,714	V189L	possibly damaging	Het
Sbf2	A	T	7: 110,348,962	I1227K	probably damaging	Het
Slc8a1	T	C	17: 81,648,281	T443A	probably damaging	Het
Slc8a1	A	G	17: 81,388,881	V896A	probably damaging	Het
Taf2	T	C	15: 55,016,581	M1120V	probably benign	Het
Ugt2b34	C	T	5: 86,906,326	V199I	probably benign	Het
Unc5c	C	A	3: 141,818,202		probably benign	Het
Usp37	G	A	1: 74,493,046	R63*	probably null	Het

Other mutations in Krt32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01454:Krt32	APN	11	100084081	missense	probably damaging	1.00
IGL02268:Krt32	APN	11	100088141	missense	probably benign	0.21
IGL02502:Krt32	APN	11	100087923	missense	probably damaging	1.00
IGL02967:Krt32	APN	11	100084050	missense	possibly damaging	0.93
IGL02799:Krt32	UTSW	11	100087907	missense	possibly damaging	0.54
R0840:Krt32	UTSW	11	100081242	missense	probably benign	0.00
R1503:Krt32	UTSW	11	100084110	critical splice acceptor site	probably null
R1944:Krt32	UTSW	11	100084844	critical splice acceptor site	probably null
R1945:Krt32	UTSW	11	100084844	critical splice acceptor site	probably null
R2426:Krt32	UTSW	11	100086366	missense	possibly damaging	0.76
R3774:Krt32	UTSW	11	100088121	missense	probably benign	0.00
R3775:Krt32	UTSW	11	100088121	missense	probably benign	0.00
R3776:Krt32	UTSW	11	100088121	missense	probably benign	0.00
R5522:Krt32	UTSW	11	100086671	critical splice donor site	probably null
R5794:Krt32	UTSW	11	100084986	missense	probably damaging	0.99
R6109:Krt32	UTSW	11	100087965	missense	probably benign	0.01
R6994:Krt32	UTSW	11	100086445	missense	probably damaging	1.00
R7375:Krt32	UTSW	11	100081224	missense	probably benign	0.18
R7577:Krt32	UTSW	11	100081221	missense	probably benign	0.00
R8249:Krt32	UTSW	11	100086722	missense	probably benign	0.00
Z1088:Krt32	UTSW	11	100088216	missense	probably benign
Z1177:Krt32	UTSW	11	100084069	missense	possibly damaging	0.95

Posted On

2013-06-21