Mutagenetix > Incidental Mutation

Incidental Mutation 'R9034:Krtap26-1'

687255

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 #

R9034 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88646824-88647796 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88647273 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 153 (N153K)

Ref Sequence

ENSEMBL: ENSMUSP00000093626 (fasta)

Gene Model

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

AlphaFold

Q9D7N2

Predicted Effect

probably benign
Transcript: ENSMUST00000095934
AA Change: N153K

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000093626
Gene: ENSMUSG00000071471
AA Change: N153K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

95% (57/60)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430573F11Rik	C	T	8: 36,511,800	R186*	probably null	Het
Abca9	T	C	11: 110,148,789	D466G	probably benign	Het
Acvr2a	T	C	2: 48,873,369	Y142H	probably damaging	Het
Agfg1	C	T	1: 82,876,192	Q188*	probably null	Het
Akap11	C	A	14: 78,510,859	V1363F		Het
Aldh3a1	A	G	11: 61,213,649	T121A	probably benign	Het
Arid1b	T	A	17: 5,336,905	D1491E	probably benign	Het
Baz2a	A	G	10: 128,116,399	T617A	probably damaging	Het
Cacna1c	T	C	6: 118,751,398	M362V		Het
Cant1	T	A	11: 118,411,302	H63L	probably benign	Het
Cdkn2aip	C	A	8: 47,711,208	C490F	probably damaging	Het
Cenpn	T	A	8: 116,934,739	D192E	probably benign	Het
Clint1	C	A	11: 45,908,955	L514M	probably benign	Het
Clint1	T	A	11: 45,908,956	L514Q	possibly damaging	Het
Cmklr1	G	C	5: 113,613,982	H319Q	probably benign	Het
Cspg5	T	C	9: 110,251,021	F419S	probably damaging	Het
Ehmt2	C	A	17: 34,903,441	A328E	probably benign	Het
Ercc6l2	T	C	13: 63,844,633	S299P	probably damaging	Het
F13b	T	C	1: 139,508,223	C256R	probably damaging	Het
F830016B08Rik	A	G	18: 60,300,069	T75A	probably damaging	Het
Fam227a	T	C	15: 79,648,751	M69V	probably benign	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 142,240,434		probably benign	Het
Grin2c	C	T	11: 115,251,239	E785K	probably damaging	Het
H2-M2	A	T	17: 37,481,285	S325T	probably benign	Het
Hmgcr	A	G	13: 96,659,377	S261P	probably damaging	Het
Impg1	T	A	9: 80,465,298		probably benign	Het
Krit1	A	G	5: 3,812,996		probably benign	Het
Lrmp	T	C	6: 145,137,547	V4A	probably benign	Het
Mfsd14b	G	T	13: 65,075,686	A178E	probably damaging	Het
Muc4	CAC	CACTAC	16: 32,754,076		probably benign	Het
Myh6	A	T	14: 54,948,139	I1531N	possibly damaging	Het
Myo7a	G	T	7: 98,079,258	A836D	probably benign	Het
Ncam1	A	T	9: 49,569,898	S19T	probably benign	Het
Nes	T	A	3: 87,978,428	D1331E	probably damaging	Het
Nsd2	G	A	5: 33,880,134	R700Q	possibly damaging	Het
Nxt1	A	T	2: 148,675,411	Y24F	possibly damaging	Het
Olfr1001-ps1	A	T	2: 85,633,800	T124S	probably benign	Het
Olfr1016	G	T	2: 85,799,958	A104E	possibly damaging	Het
Olfr150	G	A	9: 39,737,590	M258I	probably benign	Het
Olfr292	G	A	7: 86,694,761	V102I	probably benign	Het
Olfr523	G	A	7: 140,176,971	V284I	probably benign	Het
Olfr658	T	A	7: 104,644,628	H248L	probably damaging	Het
Olfr889	G	A	9: 38,116,254	V158M	possibly damaging	Het
Pex5l	T	A	3: 32,952,534	Q562L	probably damaging	Het
Plxna2	A	G	1: 194,793,889	Y1139C	probably damaging	Het
Prelp	T	C	1: 133,914,591	N272S	probably damaging	Het
Rtkn2	A	G	10: 68,005,586	K188R	probably damaging	Het
Sbno2	G	A	10: 80,062,757	R624W	probably damaging	Het
Scn8a	T	A	15: 101,029,761	C1374S	probably damaging	Het
Serpina1e	T	A	12: 103,951,102	T103S	probably benign	Het
Sh3tc2	A	G	18: 61,974,500	E194G	probably benign	Het
Slc36a3	A	T	11: 55,125,689	I360N	probably damaging	Het
Sphk1	T	C	11: 116,535,623	V135A	probably damaging	Het
Tnfsf10	G	A	3: 27,335,230	D147N	probably benign	Het
Tnip2	C	T	5: 34,513,833	C22Y	probably damaging	Het
Trp73	T	C	4: 154,067,631	T187A	probably benign	Het
Tspan33	C	T	6: 29,717,612	Q276*	probably null	Het
Ttn	C	T	2: 76,712,527	G33372R	probably damaging	Het
Vmn2r31	T	A	7: 7,394,681	T193S	probably benign	Het
Vps54	T	C	11: 21,263,273	F19L	probably benign	Het
Vwa8	A	G	14: 79,058,739	T856A	probably damaging	Het
Zscan4b	A	T	7: 10,900,913	Y468N	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
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
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'- GGAAGCTACTGACCTCCTTGTG -3'
(R):5'- TCTTCGACATACTGTGTGCC -3'

Sequencing Primer
(F):5'- CCTCCTTGTGCAGAGCAAGAAG -3'
(R):5'- ATACTGTGTGCCCAGACACTG -3'

Posted On

2021-11-19