Mutagenetix > Incidental Mutations

Incidental Mutation 'R6183:Krtap5-5'

487626

Institutional Source

Beutler Lab

Gene Symbol

Krtap5-5

Ensembl Gene

ENSMUSG00000073785

Gene Name

keratin associated protein 5-5

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.486) question?

Stock #

R6183 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

142228795-142229971 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 142229787 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 42 (C42F)

Ref Sequence

ENSEMBL: ENSMUSP00000095555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097942]

AlphaFold

Q2TA51

Predicted Effect

unknown
Transcript: ENSMUST00000097942
AA Change: C42F

SMART Domains

Protein: ENSMUSP00000095555
Gene: ENSMUSG00000073785
AA Change: C42F

Domain	Start	End	E-Value	Type
low complexity region	3	240	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	T	C	5: 31,487,976	Y358H	probably damaging	Het
5830411N06Rik	A	G	7: 140,296,034	T404A	possibly damaging	Het
Abcb4	T	A	5: 8,918,718	D352E	probably benign	Het
Adgrb3	T	A	1: 25,094,370	I972L	probably damaging	Het
Alg3	T	C	16: 20,610,641	Y33C	probably benign	Het
Atp1a3	C	T	7: 24,981,752	G816D	probably damaging	Het
Ces1g	C	T	8: 93,331,239	V145M	possibly damaging	Het
Clip1	A	G	5: 123,642,604	S339P	probably damaging	Het
Col2a1	G	T	15: 97,988,790	T378N	unknown	Het
Dennd4b	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAGCAG	3: 90,275,568		probably benign	Het
Dnah12	T	A	14: 26,861,769	L3207Q	probably damaging	Het
Efcab5	T	C	11: 77,137,258	T416A	probably benign	Het
Ephb1	A	T	9: 102,195,325	I85N	probably damaging	Het
Etnppl	T	C	3: 130,620,317	C22R	probably damaging	Het
F830016B08Rik	A	G	18: 60,299,877	T11A	probably benign	Het
Gm5458	C	A	14: 19,599,644	V171L	probably damaging	Het
Helb	G	T	10: 120,112,998		probably null	Het
Hnrnpll	A	G	17: 80,049,876	V237A	possibly damaging	Het
Hps3	T	C	3: 20,008,868	T712A	probably benign	Het
Ibsp	A	G	5: 104,306,030	E78G	possibly damaging	Het
Ighv1-62-2	G	A	12: 115,446,436	A111V	probably damaging	Het
Igkv4-63	G	T	6: 69,378,124	Q58K	probably damaging	Het
Iqcg	T	C	16: 33,030,923	Y226C	probably damaging	Het
Khdc1a	A	T	1: 21,350,108	D30V	possibly damaging	Het
Lmod3	T	C	6: 97,252,553	N7D	probably damaging	Het
Lvrn	A	G	18: 46,850,685	N165S	probably benign	Het
Ms4a4c	A	G	19: 11,426,229	T192A	possibly damaging	Het
Ncald	A	T	15: 37,397,232	V68D	probably damaging	Het
Olfr1507	T	A	14: 52,490,731	T78S	probably benign	Het
Pcdhgb7	A	T	18: 37,752,262	I162F	probably damaging	Het
Prokr1	T	C	6: 87,588,852	T4A	possibly damaging	Het
Qrich2	T	A	11: 116,458,129		probably benign	Het
Rgl1	C	T	1: 152,586,570	E60K	possibly damaging	Het
Rtn1	A	T	12: 72,408,491	W21R	probably benign	Het
Spast	A	G	17: 74,373,358	I438M	probably damaging	Het
Sptbn5	C	T	2: 120,059,417		probably benign	Het
Sry	C	G	Y: 2,662,975	Q228H	unknown	Het
Tas1r1	A	G	4: 152,032,541	I212T	probably damaging	Het
Tbc1d1	A	G	5: 64,275,425	N439D	probably damaging	Het
Tjp2	C	T	19: 24,100,791	A913T	probably damaging	Het
Tnfrsf26	A	G	7: 143,611,757	L47P	probably damaging	Het
Unc13a	A	T	8: 71,644,666	S1195T	probably damaging	Het
Usp54	T	C	14: 20,552,245	R1346G	probably damaging	Het
Vmn1r54	T	A	6: 90,269,290	M62K	possibly damaging	Het
Vmn2r125	A	T	4: 156,350,069	D50V	probably damaging	Het
Vmn2r66	T	C	7: 84,995,558	D548G	possibly damaging	Het
Vmn2r95	T	A	17: 18,443,930	N470K	probably damaging	Het
Zc3h7a	A	T	16: 11,147,370	I633N	possibly damaging	Het

Other mutations in Krtap5-5

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL03104:Krtap5-5	APN	7	142229713	missense	unknown
R1756:Krtap5-5	UTSW	7	142229621	missense	unknown
R2122:Krtap5-5	UTSW	7	142229503	missense	unknown
R4902:Krtap5-5	UTSW	7	142229419	missense	unknown
R7529:Krtap5-5	UTSW	7	142229692	missense	unknown
R8010:Krtap5-5	UTSW	7	142229911	start codon destroyed	probably null
R8902:Krtap5-5	UTSW	7	142229893	missense	unknown
R9355:Krtap5-5	UTSW	7	142229377	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTGACAACAGCTGGGTTTACAAC -3'
(R):5'- CAGGGATATAAAGGCCCAGC -3'

Sequencing Primer
(F):5'- GGTTTACAACCCCCACAGGAG -3'
(R):5'- TCAGGAGGCTCCACATCTG -3'

Posted On

2017-10-10