Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03214:Krtap5-2'

413413

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krtap5-2

Ensembl Gene

ENSMUSG00000054759

Gene Name

keratin associated protein 5-2

Synonyms

4833428E21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL03214

Quality Score

Status

Chromosome

Chromosomal Location

141728272-141729742 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141728751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 310 (S310P)

Ref Sequence

ENSEMBL: ENSMUSP00000140784 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000067978
AA Change: S132P

SMART Domains

Protein: ENSMUSP00000070557
Gene: ENSMUSG00000054759
AA Change: S132P

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

unknown
Transcript: ENSMUST00000190456
AA Change: S310P

SMART Domains

Protein: ENSMUSP00000140784
Gene: ENSMUSG00000054759
AA Change: S310P

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	T	C	11: 7,117,054 (GRCm39)		probably benign	Het
Asb5	T	C	8: 55,038,098 (GRCm39)	V207A	probably benign	Het
Atxn3	G	T	12: 101,912,181 (GRCm39)		probably benign	Het
Brwd1	T	C	16: 95,839,100 (GRCm39)	D857G	probably benign	Het
Cacna1i	A	G	15: 80,239,917 (GRCm39)	N322S	probably benign	Het
Ccn6	T	C	10: 39,029,163 (GRCm39)	N255S	probably benign	Het
Dcun1d1	A	T	3: 35,973,220 (GRCm39)	W92R	probably damaging	Het
Dnah7a	A	C	1: 53,561,368 (GRCm39)		probably null	Het
Enpep	T	C	3: 129,086,896 (GRCm39)	D581G	probably benign	Het
Fam135a	G	A	1: 24,092,357 (GRCm39)	L201F	probably damaging	Het
Gm14496	T	G	2: 181,642,329 (GRCm39)	L667V	probably damaging	Het
Grk4	T	A	5: 34,909,553 (GRCm39)	M539K	probably benign	Het
Itpr2	A	G	6: 146,081,742 (GRCm39)	V2261A	probably benign	Het
Mme	A	T	3: 63,237,111 (GRCm39)	Y232F	possibly damaging	Het
Mtmr4	T	C	11: 87,488,519 (GRCm39)	Y58H	probably damaging	Het
Myh13	T	C	11: 67,244,411 (GRCm39)	S983P	possibly damaging	Het
Nbas	A	G	12: 13,381,111 (GRCm39)		probably benign	Het
Neb	C	T	2: 52,049,560 (GRCm39)	G6428R	probably damaging	Het
Neb	T	A	2: 52,087,856 (GRCm39)	T5448S	possibly damaging	Het
Or2ag17	T	A	7: 106,389,552 (GRCm39)	I219L	probably benign	Het
Or2t1	A	T	14: 14,328,284 (GRCm38)	M58L	probably damaging	Het
Or52ab7	G	T	7: 102,977,873 (GRCm39)	S60I	possibly damaging	Het
Or5l13	T	A	2: 87,780,415 (GRCm39)	Q54L	probably benign	Het
Or5p52	T	C	7: 107,502,173 (GRCm39)	M83T	probably benign	Het
Otx2	A	G	14: 48,898,781 (GRCm39)	I75T	probably damaging	Het
Phex	A	T	X: 155,960,500 (GRCm39)	N681K	probably damaging	Het
Plekha8	C	A	6: 54,612,755 (GRCm39)	A454E	probably damaging	Het
Rbfa	C	A	18: 80,240,506 (GRCm39)	K152N	probably benign	Het
Satb2	C	A	1: 56,884,739 (GRCm39)	S513I	probably damaging	Het
Slc4a2	G	T	5: 24,639,879 (GRCm39)	R520L	probably benign	Het
Slfn14	T	C	11: 83,169,826 (GRCm39)	H606R	probably benign	Het
Smc1b	G	A	15: 84,982,147 (GRCm39)	Q716*	probably null	Het
Syncrip	C	T	9: 88,346,696 (GRCm39)		probably benign	Het
Vmn2r30	T	A	7: 7,337,259 (GRCm39)	I126F	probably benign	Het
Vps13c	C	T	9: 67,804,477 (GRCm39)	A762V	probably null	Het
Wdr64	C	A	1: 175,571,201 (GRCm39)		probably benign	Het

Other mutations in Krtap5-2

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01958:Krtap5-2	APN	7	141,729,459 (GRCm39)	nonsense	probably null
IGL02064:Krtap5-2	APN	7	141,729,468 (GRCm39)	missense	unknown
IGL03326:Krtap5-2	APN	7	141,729,100 (GRCm39)	nonsense	probably null
R1196:Krtap5-2	UTSW	7	141,728,620 (GRCm39)	nonsense	probably null
R2327:Krtap5-2	UTSW	7	141,728,748 (GRCm39)	missense	unknown
R5166:Krtap5-2	UTSW	7	141,728,721 (GRCm39)	missense	unknown
R5723:Krtap5-2	UTSW	7	141,728,742 (GRCm39)	missense	unknown
R6356:Krtap5-2	UTSW	7	141,729,119 (GRCm39)	intron	probably benign
R6364:Krtap5-2	UTSW	7	141,728,800 (GRCm39)	nonsense	probably null
R6593:Krtap5-2	UTSW	7	141,728,697 (GRCm39)	missense	unknown
R7193:Krtap5-2	UTSW	7	141,728,980 (GRCm39)	small deletion	probably benign
R7740:Krtap5-2	UTSW	7	141,728,699 (GRCm39)	missense	unknown
R7748:Krtap5-2	UTSW	7	141,728,845 (GRCm39)	critical splice acceptor site	probably benign
R7753:Krtap5-2	UTSW	7	141,729,136 (GRCm39)	small deletion	probably benign
R8307:Krtap5-2	UTSW	7	141,728,586 (GRCm39)	missense	unknown
R8446:Krtap5-2	UTSW	7	141,728,845 (GRCm39)	critical splice acceptor site	probably benign
R8767:Krtap5-2	UTSW	7	141,728,845 (GRCm39)	critical splice acceptor site	probably benign
R9100:Krtap5-2	UTSW	7	141,728,836 (GRCm39)	critical splice acceptor site	probably benign
R9689:Krtap5-2	UTSW	7	141,729,029 (GRCm39)	missense	unknown
Z1177:Krtap5-2	UTSW	7	141,729,518 (GRCm39)	missense	unknown

Posted On

2016-08-02