Mutagenetix > Incidental Mutation

Incidental Mutation 'R7299:Krtap26-1'

566894

Institutional Source

Beutler Lab

Gene Symbol

Krtap26-1

Ensembl Gene

ENSMUSG00000071471

Gene Name

keratin associated protein 26-1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7299 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88646824-88647796 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88647244 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 163 (Y163C)

Ref Sequence

ENSEMBL: ENSMUSP00000093626 (fasta)

Gene Model

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

AlphaFold

Q9D7N2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095934
AA Change: Y163C

PolyPhen 2 Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000093626
Gene: ENSMUSG00000071471
AA Change: Y163C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

99% (71/72)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	C	3: 121,679,446	K83N	unknown	Het
Abca13	A	T	11: 9,294,649	N2171Y	probably damaging	Het
Abcc8	G	A	7: 46,105,498	T1532I	possibly damaging	Het
Abtb2	A	T	2: 103,702,424		probably null	Het
Agk	A	T	6: 40,329,517	T7S	possibly damaging	Het
Akap9	C	A	5: 4,032,696	T1940K	probably damaging	Het
Armc4	T	C	18: 7,222,635	K545E	probably damaging	Het
BC024978	G	A	7: 27,201,123	A176T	probably damaging	Het
Ccdc8	A	G	7: 16,996,031	T482A	unknown	Het
Cd2ap	G	A	17: 42,830,013	R212*	probably null	Het
Cenpt	G	A	8: 105,849,904	Q45*	probably null	Het
Cnga1	T	C	5: 72,605,432	I246M	probably benign	Het
Cnot7	A	G	8: 40,507,545	I74T	probably damaging	Het
Cog6	T	C	3: 53,002,507	S275G	probably benign	Het
Csmd2	C	A	4: 128,528,262	D2797E		Het
Ddx24	A	G	12: 103,419,450	M298T	possibly damaging	Het
Eif2b3	T	A	4: 117,052,822	S185T	probably benign	Het
Ergic2	T	A	6: 148,188,112	Y249F	probably damaging	Het
Exoc1	T	A	5: 76,542,159	M182K	probably damaging	Het
Fhdc1	T	C	3: 84,444,540	E1126G	probably damaging	Het
Gabrr2	T	A	4: 33,095,284	M391K	probably benign	Het
Gap43	T	C	16: 42,292,252	K49E	probably damaging	Het
Gata4	T	A	14: 63,203,742	T276S	probably damaging	Het
Gca	C	T	2: 62,689,976	P160L	probably benign	Het
Ghdc	C	T	11: 100,768,116	V397I	possibly damaging	Het
Gm3409	T	A	5: 146,539,547	D169E	probably benign	Het
Gtf3c3	G	A	1: 54,417,708	P511L	probably benign	Het
Hal	T	C	10: 93,492,561	V233A	probably benign	Het
Ighv1-4	T	C	12: 114,487,288	I67V	probably benign	Het
Itgb8	T	C	12: 119,202,461	N112D	probably benign	Het
Klhl38	G	A	15: 58,322,980	R118W	probably damaging	Het
Kyat1	T	C	2: 30,191,995	D44G	probably benign	Het
Mob1a	G	A	6: 83,338,449		probably null	Het
Mst1r	G	T	9: 107,914,790	A842S	possibly damaging	Het
Nhsl1	A	G	10: 18,527,671		probably null	Het
Nos1	A	T	5: 117,867,905	D230V	possibly damaging	Het
Nppb	T	C	4: 147,986,323	S52P	probably benign	Het
Olfml3	T	C	3: 103,735,860	K402E	probably damaging	Het
Olfr1496	G	A	19: 13,781,324	W235*	probably null	Het
Pcdha3	G	A	18: 36,946,924	E240K	possibly damaging	Het
Podxl	G	T	6: 31,524,436	P395T	probably damaging	Het
Prr5l	T	A	2: 101,717,286	D298V	probably damaging	Het
Ptpro	G	A	6: 137,441,144		probably null	Het
Rad9b	A	G	5: 122,352,614	V13A	possibly damaging	Het
Ralgps1	T	C	2: 33,157,873	K365R	probably benign	Het
Reep1	A	T	6: 71,761,389	I44L	probably benign	Het
Ripor2	T	C	13: 24,725,001	I1034T	possibly damaging	Het
Rtn4ip1	T	C	10: 43,936,020	Y338H	probably damaging	Het
Shisa5	G	T	9: 109,054,884		probably benign	Het
Snx24	G	T	18: 53,340,172	V63F	probably damaging	Het
Svep1	G	A	4: 58,046,587	Q3515*	probably null	Het
Tfap2a	T	C	13: 40,721,308	K276E	probably damaging	Het
Tmem158	C	A	9: 123,260,301	S82I	probably damaging	Het
Tmem263	T	A	10: 85,114,397		probably null	Het
Tmtc3	G	T	10: 100,447,474	H740N	not run	Het
Tnrc6a	A	C	7: 123,170,913	N642T	probably benign	Het
Top3a	A	T	11: 60,748,148	F559I	probably damaging	Het
Trak1	A	G	9: 121,451,863		probably null	Het
Trpc4	T	C	3: 54,317,627	I799T	possibly damaging	Het
Ttc7	T	C	17: 87,346,542	I549T	possibly damaging	Het
Tysnd1	C	A	10: 61,696,549	P327T	possibly damaging	Het
Ulk4	T	A	9: 121,145,059	D969V	probably benign	Het
Vcan	T	A	13: 89,705,266	Y525F	probably benign	Het
Vmn1r204	G	A	13: 22,556,805	S202N	probably damaging	Het
Vmn2r107	A	G	17: 20,345,616	I64M	probably benign	Het
Wrn	A	G	8: 33,292,718	F728S	probably damaging	Het
Zfp280b	C	G	10: 76,038,703	Q139E	probably damaging	Het
Zfp322a	C	A	13: 23,357,143	G143V	probably damaging	Het
Zfp322a	C	T	13: 23,357,144	G143S	probably benign	Het
Zfp418	T	A	7: 7,182,828	C597S	possibly damaging	Het
Zfp568	A	G	7: 30,017,244	T190A	probably benign	Het
Zfyve26	A	T	12: 79,282,984	V476D	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
R0383:Krtap26-1	UTSW	16	88647243	nonsense	probably null
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
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'- GAACAAGGAAGCTACTGACCTC -3'
(R):5'- ACATACTGTGTGCCCAGACAC -3'

Sequencing Primer
(F):5'- AAGGAAGCTACTGACCTCCTTGTG -3'
(R):5'- ACACTGCCAAGGATCTGGCTATATTC -3'

Posted On

2019-06-26