Mutagenetix > Incidental Mutation

Incidental Mutation 'R9186:Krtap26-1'

697405

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 #

R9186 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88646824-88647796 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 88647721 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 4 (R4L)

Ref Sequence

ENSEMBL: ENSMUSP00000093626 (fasta)

Gene Model

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

AlphaFold

Q9D7N2

Predicted Effect

unknown
Transcript: ENSMUST00000095934
AA Change: R4L

SMART Domains

Protein: ENSMUSP00000093626
Gene: ENSMUSG00000071471
AA Change: R4L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,257,189	R634L	probably damaging	Het
Ankhd1	T	C	18: 36,634,330	I210T	possibly damaging	Het
Ankle2	G	A	5: 110,252,744	V649M	possibly damaging	Het
Arid3b	A	T	9: 57,794,934		probably null	Het
Arl10	A	G	13: 54,578,807	N133D	probably damaging	Het
Bag6	C	T	17: 35,144,691	R784W	probably damaging	Het
Ccnl1	T	C	3: 65,958,005	T42A	unknown	Het
Cd164	C	A	10: 41,528,699	P151Q	probably damaging	Het
Cdh23	G	A	10: 60,307,527	A3005V	possibly damaging	Het
Ceacam2	T	A	7: 25,527,788	N218I	probably damaging	Het
Cfap97	C	T	8: 46,191,628	R466C	possibly damaging	Het
Colgalt2	C	A	1: 152,508,652	T581K	probably damaging	Het
Dnah11	T	A	12: 118,190,897	D216V	probably benign	Het
Dusp13	A	T	14: 21,748,495	S34T	probably damaging	Het
Esf1	T	A	2: 140,148,872	K564I	possibly damaging	Het
F5	A	G	1: 164,193,901	N1315S	probably benign	Het
Fubp1	A	T	3: 152,220,516	M292L	probably damaging	Het
Gabrb2	A	T	11: 42,487,373	M139L	possibly damaging	Het
Gk5	T	A	9: 96,133,416	V95D	probably benign	Het
Glcci1	C	A	6: 8,537,826	P148Q	possibly damaging	Het
Gm19410	A	T	8: 35,815,475	S1952C	possibly damaging	Het
Gstm4	T	C	3: 108,044,733		probably benign	Het
Heatr1	T	A	13: 12,421,346	L1211Q	probably damaging	Het
Helz2	A	G	2: 181,234,664	S1346P	possibly damaging	Het
Hexb	A	C	13: 97,189,328	V158G	probably damaging	Het
Hipk3	T	C	2: 104,471,094	E251G	probably damaging	Het
Hps5	T	C	7: 46,788,946	Y89C	probably damaging	Het
Iqub	A	T	6: 24,450,767	V611D	possibly damaging	Het
Itgbl1	G	A	14: 123,857,558	D332N	probably benign	Het
Lgi3	A	G	14: 70,534,753	Y246C	probably damaging	Het
Mug2	T	A	6: 122,075,289	I1002N	probably damaging	Het
Myo18a	C	T	11: 77,859,021	T66M		Het
Naip6	T	C	13: 100,299,882	D711G	possibly damaging	Het
Olfr1312	C	A	2: 112,042,750	C94F	probably damaging	Het
Orc5	T	A	5: 22,547,946	Q48L	probably benign	Het
Oxct2a	C	A	4: 123,322,668	A307S	probably damaging	Het
Pgls	T	C	8: 71,596,189	*258Q	probably null	Het
Plekha6	C	T	1: 133,292,433	R955W	probably damaging	Het
Polr1c	G	T	17: 46,245,707	N97K	probably damaging	Het
Prr27	C	A	5: 87,843,135	P202Q	probably benign	Het
Prtg	T	C	9: 72,856,877	V544A	probably benign	Het
Rbl2	G	A	8: 91,101,378	G574S	probably damaging	Het
Scamp1	T	A	13: 94,208,174	T272S	possibly damaging	Het
Sun2	T	A	15: 79,727,536	D562V	probably damaging	Het
Szt2	A	G	4: 118,385,091	F1565S	probably damaging	Het
Tatdn2	C	T	6: 113,710,164	R779C	probably benign	Het
Tbc1d30	T	C	10: 121,275,734	I430V	probably benign	Het
Tmem86b	T	C	7: 4,629,726	D43G	probably damaging	Het
Tnrc18	T	C	5: 142,787,733	N447S		Het
Trmt2a	T	C	16: 18,251,169	S292P	probably benign	Het
Trpc2	T	C	7: 102,088,285	V428A	probably damaging	Het
Tsc2	T	C	17: 24,604,888	E981G	probably damaging	Het
Ucp1	G	T	8: 83,290,643	G21*	probably null	Het
Utrn	T	C	10: 12,614,574	T21A	probably benign	Het
Vapa	A	T	17: 65,593,512	N88K	probably damaging	Het
Wasl	T	C	6: 24,664,616	R10G	probably damaging	Het
Zan	C	A	5: 137,393,548	V4662F	unknown	Het
Zap70	G	A	1: 36,779,751	M382I	possibly damaging	Het
Zdhhc17	T	C	10: 110,944,420	I624M	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
R9034:Krtap26-1	UTSW	16	88647273	missense	probably benign	0.14
R9279:Krtap26-1	UTSW	16	88647454	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCAGTTGTCCATGAACCAGG -3'
(R):5'- AAGGTATTTCAGGGATCATCCGG -3'

Sequencing Primer
(F):5'- TCCATGAACCAGGTGTGATC -3'
(R):5'- CGCTACTTCCTGGGTATGAGAGAG -3'

Posted On

2022-02-07