Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01958:Krtap5-2'

181460

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krtap5-2

Ensembl Gene

ENSMUSG00000054759

Gene Name

keratin associated protein 5-2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL01958

Quality Score

Status

Chromosome

Chromosomal Location

142174535-142176005 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 142175722 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 74 (G74*)

Ref Sequence

ENSEMBL: ENSMUSP00000140784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067978] [ENSMUST00000190456]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000067978
AA Change: G74*

SMART Domains

Protein: ENSMUSP00000070557
Gene: ENSMUSG00000054759
AA Change: G74*

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	129	173	4.4e-10	PFAM
Pfam:Keratin_B2_2	144	188	1.8e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000190456
AA Change: G74*

SMART Domains

Protein: ENSMUSP00000140784
Gene: ENSMUSG00000054759
AA Change: G74*

Domain	Start	End	E-Value	Type
low complexity region	2	358	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	T	C	10: 95,793,797	I29T	probably damaging	Het
5830411N06Rik	T	C	7: 140,274,127	C348R	probably damaging	Het
Agps	G	A	2: 75,909,701		probably null	Het
Agxt2	A	G	15: 10,393,708		probably null	Het
Ahnak	T	C	19: 9,014,909	V4519A	possibly damaging	Het
Aktip	T	C	8: 91,126,225	D159G	probably damaging	Het
Ankrd44	T	C	1: 54,766,966	I94V	probably damaging	Het
Asph	T	C	4: 9,474,904	E674G	possibly damaging	Het
Atat1	T	A	17: 35,908,843		probably benign	Het
Ccar1	G	A	10: 62,790,935	A20V	possibly damaging	Het
Cdc26	T	C	4: 62,402,764	D14G	probably damaging	Het
Cdh15	T	C	8: 122,859,350	F156S	probably damaging	Het
Dctn1	A	G	6: 83,191,344	T525A	possibly damaging	Het
Dnah8	T	G	17: 30,855,895		probably benign	Het
Dnajc10	T	A	2: 80,321,304		probably benign	Het
Dtl	C	A	1: 191,568,377	W125L	probably damaging	Het
Fam3c	G	A	6: 22,318,955	T149I	probably damaging	Het
Fgd6	A	G	10: 94,138,308	T1304A	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm6578	A	G	6: 12,099,767		noncoding transcript	Het
Gnai1	A	G	5: 18,273,570	F199S	probably damaging	Het
Grb7	T	A	11: 98,454,654	V480D	probably damaging	Het
Hdc	A	G	2: 126,594,532	L473P	possibly damaging	Het
Hmcn1	T	C	1: 150,603,871	N4614S	probably benign	Het
Il20ra	A	G	10: 19,759,043	D344G	probably benign	Het
Ints1	C	T	5: 139,760,088	R1342Q	possibly damaging	Het
Itga9	T	A	9: 118,636,494		probably benign	Het
Kat14	T	C	2: 144,394,365	L339P	probably damaging	Het
Klhl22	A	G	16: 17,776,462	I152V	probably benign	Het
Lrrc59	C	A	11: 94,638,528		probably null	Het
Map3k13	A	G	16: 21,892,123	Q52R	probably benign	Het
Mb21d2	A	G	16: 28,827,743		probably benign	Het
Mphosph9	A	T	5: 124,324,990		probably benign	Het
Myrf	A	G	19: 10,210,378		probably benign	Het
Nek11	T	C	9: 105,300,303	T250A	probably benign	Het
Nek5	A	T	8: 22,096,826	V323E	probably benign	Het
Nfasc	A	T	1: 132,608,438	C586*	probably null	Het
Nup210l	T	A	3: 90,203,924	L1711Q	possibly damaging	Het
Parp8	T	G	13: 116,876,572	K644Q	probably benign	Het
Pcnt	G	T	10: 76,433,679	Q252K	probably damaging	Het
Pianp	A	G	6: 125,000,683	T181A	possibly damaging	Het
Pkd1	T	C	17: 24,580,324	V2839A	probably damaging	Het
Poli	C	T	18: 70,526,586	R58H	possibly damaging	Het
Ptk7	T	C	17: 46,579,427	D447G	probably benign	Het
Rapgef5	A	G	12: 117,730,651	I637V	probably benign	Het
Rasip1	A	T	7: 45,636,764	R804*	probably null	Het
Relt	A	G	7: 100,851,143	V113A	probably benign	Het
Rnf215	G	T	11: 4,140,317	C345F	probably damaging	Het
Scn2a	A	G	2: 65,701,829	D595G	probably damaging	Het
Serpina3k	G	A	12: 104,341,057	V183M	probably damaging	Het
Snapc4	T	C	2: 26,366,440		probably benign	Het
Sparcl1	A	T	5: 104,092,540	D339E	probably benign	Het
Tg	T	C	15: 66,759,486	F535L	probably benign	Het
Zbtb45	C	A	7: 13,006,276	A471S	probably benign	Het
Zfp106	T	A	2: 120,534,807	K373M	probably benign	Het

Other mutations in Krtap5-2

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02064:Krtap5-2	APN	7	142175731	missense	unknown
IGL03214:Krtap5-2	APN	7	142175014	missense	unknown
IGL03326:Krtap5-2	APN	7	142175363	nonsense	probably null
R1196:Krtap5-2	UTSW	7	142174883	nonsense	probably null
R2327:Krtap5-2	UTSW	7	142175011	missense	unknown
R5166:Krtap5-2	UTSW	7	142174984	missense	unknown
R5723:Krtap5-2	UTSW	7	142175005	missense	unknown
R6356:Krtap5-2	UTSW	7	142175382	intron	probably benign
R6364:Krtap5-2	UTSW	7	142175063	nonsense	probably null
R6593:Krtap5-2	UTSW	7	142174960	missense	unknown
R7193:Krtap5-2	UTSW	7	142175243	small deletion	probably benign
R7740:Krtap5-2	UTSW	7	142174962	missense	unknown
R7748:Krtap5-2	UTSW	7	142175108	critical splice acceptor site	probably benign
R7753:Krtap5-2	UTSW	7	142175399	small deletion	probably benign
R8307:Krtap5-2	UTSW	7	142174849	missense	unknown
R8446:Krtap5-2	UTSW	7	142175108	critical splice acceptor site	probably benign
R8767:Krtap5-2	UTSW	7	142175108	critical splice acceptor site	probably benign
R9100:Krtap5-2	UTSW	7	142175099	critical splice acceptor site	probably benign
R9689:Krtap5-2	UTSW	7	142175292	missense	unknown
Z1177:Krtap5-2	UTSW	7	142175781	missense	unknown

Posted On

2014-05-07