Mutagenetix > Incidental Mutation

Incidental Mutation 'R2367:Krtap26-1'

246388

Institutional Source

Beutler Lab

Gene Symbol

Krtap26-1

Ensembl Gene

ENSMUSG00000071471

Gene Name

keratin associated protein 26-1

Synonyms

MMRRC Submission

040348-MU

Accession Numbers

Essential gene?

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

Stock #

R2367 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88646824-88647796 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 88647325 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 136 (R136L)

Ref Sequence

ENSEMBL: ENSMUSP00000093626 (fasta)

Gene Model

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

AlphaFold

Q9D7N2

Predicted Effect

probably benign
Transcript: ENSMUST00000095934
AA Change: R136L

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000093626
Gene: ENSMUSG00000071471
AA Change: R136L

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipoq	T	C	16: 23,155,319	V32A	probably benign	Het
Ceacam3	T	C	7: 17,151,888		probably null	Het
Cep250	G	A	2: 155,992,632	R2159K	probably damaging	Het
Cfap46	C	A	7: 139,653,498	V296F	probably damaging	Het
Ctdspl2	T	C	2: 121,987,018	V182A	probably benign	Het
Cyp2c69	T	C	19: 39,877,594	N185S	probably benign	Het
Daxx	C	T	17: 33,911,847	R279W	probably benign	Het
Dnajc28	G	A	16: 91,616,867	T187M	probably damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Galnt13	A	T	2: 55,112,944	M552L	probably benign	Het
Gstt2	C	T	10: 75,832,690	G108S	probably benign	Het
Heatr1	T	A	13: 12,433,724	L422Q	probably damaging	Het
Kntc1	C	T	5: 123,781,192	L845F	probably damaging	Het
Mrgprb5	C	T	7: 48,168,599	W129*	probably null	Het
Ms4a3	G	A	19: 11,629,744	P186S	probably benign	Het
Myo15	T	A	11: 60,517,238	M3184K	probably damaging	Het
Olfr1044	T	C	2: 86,171,637	Y60C	probably damaging	Het
Olig2	G	A	16: 91,226,566	R56Q	possibly damaging	Het
Pgap3	C	T	11: 98,391,159		probably null	Het
Phgdh	C	G	3: 98,314,296	G440A	probably benign	Het
Scn1a	T	C	2: 66,327,679	Q450R	probably damaging	Het
Sema4d	CGGGG	CGGGGGGG	13: 51,703,140		probably benign	Het
Sik1	C	T	17: 31,846,297	V776I	possibly damaging	Het
Slc25a39	T	A	11: 102,403,651	T316S	possibly damaging	Het
Slc38a10	C	T	11: 120,110,261	E578K	probably benign	Het
Slc44a5	T	A	3: 154,247,809	I276K	possibly damaging	Het
Smarcc2	A	G	10: 128,482,167	T610A	possibly damaging	Het
Spag9	G	A	11: 94,116,757	S1090N	probably damaging	Het
Tpr	T	C	1: 150,433,728	V277A	probably damaging	Het
Traf3ip1	T	G	1: 91,507,520	S314A	possibly damaging	Het
Tril	T	A	6: 53,819,166	D357V	probably damaging	Het
Tube1	T	C	10: 39,144,919	L267P	probably damaging	Het
Vmn1r11	A	G	6: 57,137,431	I27V	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
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'- ACCTCCTTGTGCAGAGCAAG -3'
(R):5'- TGAAAACTCTTGTTGCTCTTCG -3'

Sequencing Primer
(F):5'- CACAGGGATCGATGGTTGGC -3'
(R):5'- TCGACATACTGTGTGCCCAGAC -3'

Posted On

2014-10-30