Mutagenetix > Incidental Mutation

Incidental Mutation 'R0383:Krtap26-1'

31128

Institutional Source

Beutler Lab

Gene Symbol

Krtap26-1

Ensembl Gene

ENSMUSG00000071471

Gene Name

keratin associated protein 26-1

Synonyms

MMRRC Submission

038589-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R0383 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88646824-88647796 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 88647243 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 163 (Y163*)

Ref Sequence

ENSEMBL: ENSMUSP00000093626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095934]

AlphaFold

Q9D7N2

Predicted Effect

probably null
Transcript: ENSMUST00000095934
AA Change: Y163*

SMART Domains

Protein: ENSMUSP00000093626
Gene: ENSMUSG00000071471
AA Change: Y163*

Domain	Start	End	E-Value	Type
Pfam:PMG	4	213	2.9e-65	PFAM

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 88.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	G	7: 131,239,539	M537V	probably benign	Het
5730455P16Rik	G	T	11: 80,363,941	Y351*	probably null	Het
A530099J19Rik	A	G	13: 19,729,147		noncoding transcript	Het
Aadac	G	T	3: 60,035,947	R91L	possibly damaging	Het
Adgrg1	T	A	8: 95,011,742	F621Y	probably damaging	Het
Ankmy1	G	T	1: 92,885,053	D511E	probably benign	Het
Anks4b	A	T	7: 120,182,874	D376V	probably damaging	Het
Aox1	G	T	1: 58,061,241	C399F	probably benign	Het
Arfgef1	C	T	1: 10,198,842		probably null	Het
Arhgef4	G	A	1: 34,810,533	V546M	probably damaging	Het
Cab39	T	A	1: 85,837,299	V98E	probably damaging	Het
Cacna1b	T	C	2: 24,761,844	N108D	probably damaging	Het
Car15	C	A	16: 17,836,753	E134*	probably null	Het
Ccdc80	T	G	16: 45,095,369	Y163D	probably damaging	Het
Col22a1	C	T	15: 71,869,004	G513D	unknown	Het
Col8a1	T	C	16: 57,632,442	D66G	probably damaging	Het
Crot	C	A	5: 8,968,734	S544I	probably damaging	Het
Cubn	G	T	2: 13,430,959	P1062Q	probably damaging	Het
Dcc	A	T	18: 71,420,263	V774E	probably damaging	Het
Dlgap5	T	A	14: 47,410,361	M240L	probably benign	Het
Dlx4	A	G	11: 95,145,435	V16A	probably benign	Het
Dnah17	G	T	11: 118,067,547	H2703Q	probably benign	Het
Duox2	A	G	2: 122,291,810		probably null	Het
Fn1	C	T	1: 71,597,685	V168I	probably damaging	Het
Fpr-rs4	A	T	17: 18,022,097	D122V	probably damaging	Het
Gas2l2	A	T	11: 83,423,097	I463N	probably benign	Het
Ggta1	G	T	2: 35,402,404	P297Q	probably damaging	Het
Gpatch3	C	A	4: 133,578,146	R231S	probably damaging	Het
Gpc1	T	C	1: 92,854,983	Y151H	probably damaging	Het
Gtf2e2	T	C	8: 33,755,945	W119R	probably damaging	Het
H2-M10.2	T	C	17: 36,284,361	I304V	probably benign	Het
Helq	T	C	5: 100,779,165	K685R	probably benign	Het
Hps5	C	T	7: 46,769,288		probably null	Het
Iars	T	C	13: 49,732,342	C1186R	probably damaging	Het
Ift43	T	C	12: 86,162,021	V158A	possibly damaging	Het
Iqca	A	T	1: 90,142,707	I141N	probably damaging	Het
Kat6b	A	G	14: 21,669,081	N1276S	probably benign	Het
Kif19a	A	T	11: 114,765,514	M1L	possibly damaging	Het
Kif1b	T	G	4: 149,202,512	H1241P	probably damaging	Het
Kif26a	T	C	12: 112,178,076	V1588A	possibly damaging	Het
Klb	T	A	5: 65,372,499		probably null	Het
Lefty1	G	T	1: 180,937,634	E256*	probably null	Het
Lox	T	C	18: 52,529,199	N44S	possibly damaging	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Mctp1	A	G	13: 76,801,544	Y565C	probably damaging	Het
Megf6	C	T	4: 154,265,326	A961V	probably benign	Het
Mindy4	A	G	6: 55,276,634	K496R	probably benign	Het
Nalcn	A	T	14: 123,507,559	H352Q	probably benign	Het
Ncoa5	T	C	2: 165,009,390	I188V	possibly damaging	Het
Notum	G	T	11: 120,654,456	H426N	probably benign	Het
Olfr569	T	A	7: 102,887,251	I301F	possibly damaging	Het
Orm2	A	T	4: 63,363,996	D137V	probably damaging	Het
Pabpc2	G	A	18: 39,775,395	G571D	probably damaging	Het
Pabpc4	A	G	4: 123,297,942	N599S	probably damaging	Het
Pak1ip1	T	C	13: 41,012,604	V335A	probably benign	Het
Pcdhb11	A	C	18: 37,423,393	D592A	probably damaging	Het
Pmch	C	A	10: 88,091,258	T41K	possibly damaging	Het
Polb	G	T	8: 22,639,995	S187*	probably null	Het
Pter	G	T	2: 13,000,942	G309*	probably null	Het
Ptprg	T	C	14: 12,219,024	V406A	possibly damaging	Het
Ranbp3l	A	T	15: 9,063,104	E467V	possibly damaging	Het
Rif1	T	A	2: 52,085,141	M354K	probably damaging	Het
Ripk4	C	T	16: 97,748,112	C248Y	probably damaging	Het
Slc6a15	T	C	10: 103,418,053	W617R	probably damaging	Het
Smyd5	C	T	6: 85,440,173	Q178*	probably null	Het
St18	T	A	1: 6,803,024	F328I	probably damaging	Het
Supt20	T	A	3: 54,703,149	L124*	probably null	Het
Tarbp1	T	A	8: 126,447,484	H861L	probably benign	Het
Tars	A	G	15: 11,390,325	M356T	probably benign	Het
Tbc1d10a	A	G	11: 4,212,819	T221A	probably damaging	Het
Tead3	A	G	17: 28,334,698		probably null	Het
Tprg	A	G	16: 25,422,235	T254A	probably damaging	Het
Trank1	C	A	9: 111,391,477	N2427K	probably benign	Het
Ttc30b	A	G	2: 75,938,242	Y56H	probably damaging	Het
Tufm	T	C	7: 126,489,864	S380P	probably damaging	Het
Tyrobp	C	T	7: 30,414,617	R68C	probably damaging	Het
Ubl4b	T	C	3: 107,554,827	E39G	possibly damaging	Het
Uggt2	A	T	14: 119,049,451	F661I	probably damaging	Het
Upf3b	A	G	X: 37,104,467	I144T	probably benign	Het
Usp54	A	T	14: 20,561,252	D1165E	probably benign	Het
Vmn2r81	C	T	10: 79,293,447	T724I	possibly damaging	Het
Vsig1	A	G	X: 140,936,313	I247M	possibly damaging	Het
Zfp110	C	A	7: 12,849,260	L612I	probably benign	Het
Zfp318	C	A	17: 46,413,296	T2075K	probably damaging	Het
Zfp37	A	G	4: 62,191,885	M1T	probably null	Het
Zfp605	T	A	5: 110,128,854	C613S	probably damaging	Het
Zfp729a	G	A	13: 67,621,673	P146S	possibly damaging	Het
Zfp85	T	C	13: 67,748,672	N427S	probably benign	Het

Other mutations in Krtap26-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Krtap26-1	APN	16	88647379	missense	possibly damaging	0.62
IGL01721:Krtap26-1	APN	16	88647172	missense	probably damaging	1.00
IGL01963:Krtap26-1	APN	16	88647668	missense	probably damaging	1.00
IGL02524:Krtap26-1	APN	16	88647479	missense	possibly damaging	0.70
R2367:Krtap26-1	UTSW	16	88647325	missense	probably benign	0.28
R4694:Krtap26-1	UTSW	16	88647220	missense	possibly damaging	0.70
R6699:Krtap26-1	UTSW	16	88647715	missense	unknown
R6884:Krtap26-1	UTSW	16	88647579	missense	probably damaging	1.00
R7299:Krtap26-1	UTSW	16	88647244	missense	possibly damaging	0.49
R7808:Krtap26-1	UTSW	16	88647310	missense	not run
R8824:Krtap26-1	UTSW	16	88647415	missense	probably damaging	1.00
R8824:Krtap26-1	UTSW	16	88647436	missense	probably damaging	0.99
R9034:Krtap26-1	UTSW	16	88647273	missense	probably benign	0.14
R9186:Krtap26-1	UTSW	16	88647721	missense	unknown
R9279:Krtap26-1	UTSW	16	88647454	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACTGGAACAAGGAAGCTACTGACC -3'
(R):5'- CTTCGACATACTGTGTGCCCAGAC -3'

Sequencing Primer
(F):5'- AGGAAGCTACTGACCTCCTTG -3'
(R):5'- GCCAAGGATCTGGCTATATTCCTG -3'

Posted On

2013-04-24