Mutagenetix > Incidental Mutation

Incidental Mutation 'R8010:Krtap5-5'

616859

Institutional Source

Beutler Lab

Gene Symbol

Krtap5-5

Ensembl Gene

ENSMUSG00000073785

Gene Name

keratin associated protein 5-5

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R8010 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

142228795-142229971 bp(-) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 142229911 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000095555 (fasta)

Gene Model

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

AlphaFold

Q2TA51

Predicted Effect

probably null
Transcript: ENSMUST00000097942
AA Change: M1V

SMART Domains

Protein: ENSMUSP00000095555
Gene: ENSMUSG00000073785
AA Change: M1V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,580,340	H130L	probably benign	Het
Abca1	A	G	4: 53,127,600	S140P	probably benign	Het
AI314180	T	A	4: 58,832,681	Q893L	unknown	Het
Aoc1	T	C	6: 48,905,648	Y153H	probably benign	Het
Arhgdib	A	G	6: 136,926,722	I118T	probably damaging	Het
Atp1a3	T	A	7: 24,980,645	E865V	possibly damaging	Het
Atrnl1	T	C	19: 57,682,446	V587A	probably benign	Het
C130026I21Rik	G	A	1: 85,246,950	S288L	possibly damaging	Het
Ccdc107	G	T	4: 43,495,768	E199*	probably null	Het
Cd55	A	T	1: 130,459,616	D148E	probably benign	Het
Cdc42ep1	C	T	15: 78,847,799	T148I	possibly damaging	Het
Cep164	A	T	9: 45,823,671	D19E	unknown	Het
Chsy3	A	G	18: 59,410,154	Y788C	probably damaging	Het
Cttnbp2	G	C	6: 18,426,093	A762G	possibly damaging	Het
Cubn	A	G	2: 13,336,086		probably null	Het
Ddr1	T	A	17: 35,691,492	M175L	possibly damaging	Het
Dicer1	C	A	12: 104,692,132	K1850N	probably damaging	Het
Dnajc6	C	T	4: 101,618,414	R495C	probably benign	Het
Fbxo18	A	T	2: 11,767,632	N79K	probably benign	Het
Frmpd1	T	A	4: 45,284,272	V1031D	possibly damaging	Het
Gm7298	A	G	6: 121,735,583	E118G	probably benign	Het
Hnrnpll	T	C	17: 80,061,956	T13A	unknown	Het
Jcad	A	G	18: 4,674,581	D781G	probably benign	Het
Kitl	A	T	10: 100,051,903	T25S	probably benign	Het
Krt5	T	C	15: 101,712,356	D152G	probably damaging	Het
Ktn1	C	T	14: 47,705,773	T862I	possibly damaging	Het
Mapk4	A	T	18: 73,930,576	I525N	probably benign	Het
Megf6	T	C	4: 154,270,507	F1457S	probably benign	Het
Mrm3	A	T	11: 76,250,347	S394C	probably damaging	Het
Mtmr4	T	G	11: 87,598,864	V71G	probably damaging	Het
Nek8	T	C	11: 78,176,596	Y4C	probably damaging	Het
Olfr203	T	C	16: 59,303,504	M117T	probably damaging	Het
Olfr309	T	A	7: 86,307,052	E20D	probably benign	Het
Olfr849	A	T	9: 19,441,692	I260L	probably benign	Het
Pla2r1	T	C	2: 60,514,960	T351A	probably benign	Het
Plcb4	C	T	2: 135,907,560	T49M	probably benign	Het
Psg20	T	C	7: 18,681,067	D301G	probably benign	Het
Ptpn13	C	T	5: 103,559,937	Q1455*	probably null	Het
Rbbp8	A	T	18: 11,722,233	N505I	possibly damaging	Het
Rgs18	A	G	1: 144,756,000	C125R	probably benign	Het
Rpap2	G	A	5: 107,603,605	C105Y	probably damaging	Het
Scn10a	C	T	9: 119,661,167	G570R	possibly damaging	Het
Sell	C	T	1: 164,065,512	T99I	possibly damaging	Het
Slc14a1	A	T	18: 78,116,489	M63K	probably benign	Het
Syne2	A	T	12: 75,930,738	D1319V	probably benign	Het
Tdp2	C	T	13: 24,836,027	T99I	probably damaging	Het
Tet3	A	T	6: 83,403,246	S647T	unknown	Het
Tpd52l1	T	G	10: 31,358,013	D48A	possibly damaging	Het
Ttll10	T	C	4: 156,047,161	D169G	probably damaging	Het
Wars2	C	A	3: 99,216,830	L336I	probably benign	Het
Wdfy4	C	A	14: 32,971,627	W2906L		Het
Xdh	A	T	17: 73,909,317	Y711*	probably null	Het
Xirp1	T	A	9: 120,017,824	R664S	probably benign	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
R6183:Krtap5-5	UTSW	7	142229787	missense	unknown
R7529:Krtap5-5	UTSW	7	142229692	missense	unknown
R8902:Krtap5-5	UTSW	7	142229893	missense	unknown
R9355:Krtap5-5	UTSW	7	142229377	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GACAACAGCTGGGTTTACAAC -3'
(R):5'- GCATGGAGTGTCAACAGACC -3'

Sequencing Primer
(F):5'- TTGCATCCCCCACAGGAG -3'
(R):5'- TGTCAACAGACCAAAGGGAAAATTGC -3'

Posted On

2020-01-23