Mutagenetix > Incidental Mutation

Incidental Mutation 'R8672:Krtap4-1'

661222

Institutional Source

Beutler Lab

Gene Symbol

Krtap4-1

Ensembl Gene

ENSMUSG00000063251

Gene Name

keratin associated protein 4-1

Synonyms

A030010K20Rik

MMRRC Submission

068527-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R8672 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99518055-99519065 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99518890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 40 (C40Y)

Ref Sequence

ENSEMBL: ENSMUSP00000079799 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081007]

AlphaFold

Q3UUY3

Predicted Effect

unknown
Transcript: ENSMUST00000081007
AA Change: C40Y

SMART Domains

Protein: ENSMUSP00000079799
Gene: ENSMUSG00000063251
AA Change: C40Y

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	14	58	4.5e-13	PFAM
Pfam:Keratin_B2_2	58	103	1.3e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	T	17: 48,400,849 (GRCm39)	E45*	probably null	Het
Aadat	A	T	8: 60,959,179 (GRCm39)		probably benign	Het
Amigo3	A	G	9: 107,931,375 (GRCm39)	H266R	possibly damaging	Het
Amy2a1	A	T	3: 113,323,146 (GRCm39)	M214K	probably damaging	Het
Atp11b	A	T	3: 35,874,066 (GRCm39)	D685V	probably benign	Het
Aunip	T	A	4: 134,250,460 (GRCm39)	M135K	probably benign	Het
Brd10	T	C	19: 29,731,564 (GRCm39)	T483A	probably benign	Het
Card9	T	C	2: 26,247,950 (GRCm39)	T134A	probably benign	Het
Cd46	G	A	1: 194,764,949 (GRCm39)	T216I	probably benign	Het
Chit1	T	C	1: 134,079,005 (GRCm39)	V360A	unknown	Het
Crcp	A	G	5: 130,071,077 (GRCm39)	R59G	probably benign	Het
Csmd1	T	A	8: 15,976,598 (GRCm39)	E2873D	probably benign	Het
Cyp8b1	T	A	9: 121,743,986 (GRCm39)	M449L	probably benign	Het
Dpp7	T	C	2: 25,246,133 (GRCm39)	D40G	probably benign	Het
Eif4g3	T	A	4: 137,853,823 (GRCm39)	L463Q	possibly damaging	Het
Fzd9	T	C	5: 135,278,524 (GRCm39)	I454V	probably benign	Het
Gbp11	T	A	5: 105,491,675 (GRCm39)	I41F	probably damaging	Het
Gkap1	G	A	13: 58,391,662 (GRCm39)	T231I	probably damaging	Het
Heatr5b	A	G	17: 79,069,632 (GRCm39)	L1705P	probably damaging	Het
Herc3	T	A	6: 58,850,786 (GRCm39)	F467I	probably damaging	Het
Ifih1	T	C	2: 62,435,993 (GRCm39)	E699G	possibly damaging	Het
Ints5	T	A	19: 8,873,370 (GRCm39)	L443Q	probably damaging	Het
Itpr2	A	T	6: 146,276,016 (GRCm39)	C764S	probably damaging	Het
Kcnma1	A	T	14: 23,551,230 (GRCm39)	I519N	probably damaging	Het
Mdn1	A	G	4: 32,768,793 (GRCm39)	D5384G	probably damaging	Het
Mpl	T	C	4: 118,306,110 (GRCm39)	Y310C	probably damaging	Het
Mucl1	A	G	15: 103,784,063 (GRCm39)	S48P	possibly damaging	Het
Musk	T	G	4: 58,286,051 (GRCm39)		probably benign	Het
Nemp1	T	C	10: 127,512,988 (GRCm39)	S8P	probably benign	Het
Nisch	A	G	14: 30,895,093 (GRCm39)	C1068R	probably damaging	Het
Npr3	T	C	15: 11,851,579 (GRCm39)	N404D	probably damaging	Het
Nwd1	C	G	8: 73,394,007 (GRCm39)	H423Q	probably damaging	Het
Or5a1	C	T	19: 12,097,921 (GRCm39)	V52M	probably benign	Het
Or6c66b	T	A	10: 129,376,596 (GRCm39)	N63K	probably damaging	Het
Or8j3c	T	A	2: 86,253,976 (GRCm39)	M15L	probably benign	Het
Pcdh9	T	C	14: 94,124,529 (GRCm39)	N547S	probably benign	Het
Pdha2	C	A	3: 140,917,124 (GRCm39)	R128L	probably damaging	Het
Pebp1	A	G	5: 117,421,336 (GRCm39)	Y181H	probably benign	Het
Peg3	T	G	7: 6,711,523 (GRCm39)	D1233A	possibly damaging	Het
Pepd	C	A	7: 34,642,107 (GRCm39)	T146N	probably damaging	Het
Ptk2b	A	T	14: 66,393,841 (GRCm39)	D877E	probably benign	Het
Rabgap1l	A	C	1: 160,270,846 (GRCm39)	M647R	probably damaging	Het
Rp1	A	G	1: 4,419,007 (GRCm39)	S702P	possibly damaging	Het
Shb	A	T	4: 45,489,161 (GRCm39)	D238E	probably damaging	Het
Slc36a1	T	A	11: 55,123,334 (GRCm39)	V433D	possibly damaging	Het
Spata31h1	A	T	10: 82,127,726 (GRCm39)	N1761K	probably benign	Het
Spen	C	T	4: 141,197,681 (GRCm39)	A3396T	probably benign	Het
Tcerg1	A	T	18: 42,686,559 (GRCm39)	K705N	probably damaging	Het
Thbs1	C	A	2: 117,943,719 (GRCm39)	N112K	probably benign	Het
Zfp658	T	C	7: 43,222,919 (GRCm39)	I398T	possibly damaging	Het

Other mutations in Krtap4-1

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02081:Krtap4-1	APN	11	99,519,010 (GRCm39)	utr 5 prime	probably benign
R1209:Krtap4-1	UTSW	11	99,518,983 (GRCm39)	missense	unknown
R1398:Krtap4-1	UTSW	11	99,518,558 (GRCm39)	missense	unknown
R1881:Krtap4-1	UTSW	11	99,518,990 (GRCm39)	missense	probably null
R3928:Krtap4-1	UTSW	11	99,518,983 (GRCm39)	missense	unknown
R4012:Krtap4-1	UTSW	11	99,518,637 (GRCm39)	nonsense	probably null
R6488:Krtap4-1	UTSW	11	99,518,903 (GRCm39)	missense	unknown
R7391:Krtap4-1	UTSW	11	99,518,810 (GRCm39)	missense	unknown
R7512:Krtap4-1	UTSW	11	99,518,859 (GRCm39)	nonsense	probably null
R8134:Krtap4-1	UTSW	11	99,518,660 (GRCm39)	small insertion	probably benign
R8136:Krtap4-1	UTSW	11	99,518,660 (GRCm39)	small insertion	probably benign
R9035:Krtap4-1	UTSW	11	99,518,708 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TAGAACCACAGCAGCTGGAG -3'
(R):5'- ATATGAGGTGTTCAGCGAGG -3'

Sequencing Primer
(F):5'- GCTACCACAGGAAGGTCGAC -3'
(R):5'- TGAGGTGTTCAGCGAGGTATAAAAG -3'

Posted On

2021-03-08