Mutagenetix > Incidental Mutation

Incidental Mutation 'R5166:Krtap5-2'

397303

Institutional Source

Beutler Lab

Gene Symbol

Krtap5-2

Ensembl Gene

ENSMUSG00000054759

Gene Name

keratin associated protein 5-2

Synonyms

4833428E21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R5166 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141728272-141729742 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 141728721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 320 (S320T)

Ref Sequence

ENSEMBL: ENSMUSP00000140784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067978] [ENSMUST00000190456]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000067978
AA Change: S142T

SMART Domains

Protein: ENSMUSP00000070557
Gene: ENSMUSG00000054759
AA Change: S142T

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	129	173	4.4e-10	PFAM
Pfam:Keratin_B2_2	144	188	1.8e-8	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000190456
AA Change: S320T

SMART Domains

Protein: ENSMUSP00000140784
Gene: ENSMUSG00000054759
AA Change: S320T

Domain	Start	End	E-Value	Type
low complexity region	2	358	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	T	C	5: 121,738,083 (GRCm39)	T435A	probably benign	Het
Adcy3	T	A	12: 4,184,438 (GRCm39)	I38N	probably damaging	Het
Aff1	A	G	5: 103,902,523 (GRCm39)		probably benign	Het
Asxl1	A	G	2: 153,243,041 (GRCm39)	E1197G	probably damaging	Het
Brinp3	T	A	1: 146,777,105 (GRCm39)	N517K	probably damaging	Het
Carmil1	C	T	13: 24,338,966 (GRCm39)		probably null	Het
Ccdc185	G	A	1: 182,576,564 (GRCm39)	Q42*	probably null	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cdh10	A	G	15: 19,013,446 (GRCm39)	E682G	probably damaging	Het
Col6a3	C	A	1: 90,738,330 (GRCm39)	R456L	probably damaging	Het
Egf	C	T	3: 129,529,489 (GRCm39)	R307H	probably benign	Het
Flt4	T	C	11: 49,524,084 (GRCm39)		probably null	Het
Fstl5	A	C	3: 76,536,267 (GRCm39)	K26Q	possibly damaging	Het
Gk5	G	T	9: 96,056,821 (GRCm39)	A413S	probably damaging	Het
Glcci1	T	A	6: 8,537,854 (GRCm39)	S157R	probably benign	Het
Gzmc	G	A	14: 56,471,433 (GRCm39)	A36V	probably damaging	Het
Hexb	T	C	13: 97,318,512 (GRCm39)	N283S	probably benign	Het
Hydin	A	G	8: 111,249,774 (GRCm39)	E2239G	possibly damaging	Het
Igkv10-95	A	T	6: 68,657,544 (GRCm39)	Y20F	probably benign	Het
Il17re	A	G	6: 113,439,923 (GRCm39)	T181A	probably benign	Het
Kcnh6	G	A	11: 105,911,145 (GRCm39)	A514T	possibly damaging	Het
Kcnk10	G	A	12: 98,401,254 (GRCm39)	R460W	probably damaging	Het
Larp1b	G	T	3: 40,918,487 (GRCm39)	E24*	probably null	Het
Mettl22	A	G	16: 8,296,115 (GRCm39)	T135A	probably benign	Het
Mlh1	A	G	9: 111,070,581 (GRCm39)	V378A	probably benign	Het
Mmrn1	A	T	6: 60,953,474 (GRCm39)	H585L	probably benign	Het
Myh14	A	G	7: 44,278,279 (GRCm39)	F1024L	probably damaging	Het
Nbea	A	T	3: 55,926,874 (GRCm39)	H776Q	probably damaging	Het
Nod2	A	G	8: 89,390,875 (GRCm39)	D372G	possibly damaging	Het
Nptn	C	T	9: 58,526,263 (GRCm39)	R137*	probably null	Het
Or9k2	T	C	10: 129,998,430 (GRCm39)	Y255C	possibly damaging	Het
Pm20d2	C	T	4: 33,181,803 (GRCm39)	V267I	probably benign	Het
Rassf10	A	G	7: 112,553,627 (GRCm39)	D76G	probably benign	Het
Rbbp5	A	G	1: 132,418,303 (GRCm39)	T41A	possibly damaging	Het
Rttn	T	C	18: 89,031,218 (GRCm39)	V643A	possibly damaging	Het
Sbno2	C	A	10: 79,902,762 (GRCm39)	E421*	probably null	Het
Slc17a3	T	C	13: 24,026,525 (GRCm39)		probably null	Het
Slc1a6	T	A	10: 78,632,103 (GRCm39)		probably null	Het
Slco2b1	A	G	7: 99,338,220 (GRCm39)	S106P	possibly damaging	Het
Spef1	T	C	2: 131,016,511 (GRCm39)	N28S	probably damaging	Het
Srebf2	C	A	15: 82,069,603 (GRCm39)	T675N	probably damaging	Het
Srp68	C	A	11: 116,156,300 (GRCm39)	E147D	probably damaging	Het
Tbcd	T	A	11: 121,500,216 (GRCm39)	L1114H	possibly damaging	Het
Tex15	T	C	8: 34,066,420 (GRCm39)	V1950A	probably benign	Het
Tnfsf9	T	A	17: 57,413,263 (GRCm39)	F148Y	possibly damaging	Het
Traf6	A	G	2: 101,520,402 (GRCm39)	D150G	probably benign	Het
Ttn	A	G	2: 76,693,717 (GRCm39)	Y262H	possibly damaging	Het
Unc93b1	A	G	19: 3,994,027 (GRCm39)	Y386C	probably damaging	Het
Vmn1r226	A	T	17: 20,908,125 (GRCm39)	E119V	probably benign	Het
Wrn	A	T	8: 33,842,100 (GRCm39)		probably null	Het
Zfp398	A	G	6: 47,842,838 (GRCm39)	I165V	probably benign	Het
Zfp850	A	T	7: 27,689,781 (GRCm39)	C142*	probably null	Het

Other mutations in Krtap5-2

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01958:Krtap5-2	APN	7	141,729,459 (GRCm39)	nonsense	probably null
IGL02064:Krtap5-2	APN	7	141,729,468 (GRCm39)	missense	unknown
IGL03214:Krtap5-2	APN	7	141,728,751 (GRCm39)	missense	unknown
IGL03326:Krtap5-2	APN	7	141,729,100 (GRCm39)	nonsense	probably null
R1196:Krtap5-2	UTSW	7	141,728,620 (GRCm39)	nonsense	probably null
R2327:Krtap5-2	UTSW	7	141,728,748 (GRCm39)	missense	unknown
R5723:Krtap5-2	UTSW	7	141,728,742 (GRCm39)	missense	unknown
R6356:Krtap5-2	UTSW	7	141,729,119 (GRCm39)	intron	probably benign
R6364:Krtap5-2	UTSW	7	141,728,800 (GRCm39)	nonsense	probably null
R6593:Krtap5-2	UTSW	7	141,728,697 (GRCm39)	missense	unknown
R7193:Krtap5-2	UTSW	7	141,728,980 (GRCm39)	small deletion	probably benign
R7740:Krtap5-2	UTSW	7	141,728,699 (GRCm39)	missense	unknown
R7748:Krtap5-2	UTSW	7	141,728,845 (GRCm39)	critical splice acceptor site	probably benign
R7753:Krtap5-2	UTSW	7	141,729,136 (GRCm39)	small deletion	probably benign
R8307:Krtap5-2	UTSW	7	141,728,586 (GRCm39)	missense	unknown
R8446:Krtap5-2	UTSW	7	141,728,845 (GRCm39)	critical splice acceptor site	probably benign
R8767:Krtap5-2	UTSW	7	141,728,845 (GRCm39)	critical splice acceptor site	probably benign
R9100:Krtap5-2	UTSW	7	141,728,836 (GRCm39)	critical splice acceptor site	probably benign
R9689:Krtap5-2	UTSW	7	141,729,029 (GRCm39)	missense	unknown
Z1177:Krtap5-2	UTSW	7	141,729,518 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGTAGAGGTACTTCTTGGAAAGTG -3'
(R):5'- AAGGGAGGCTGTAGTTCCTG -3'

Sequencing Primer
(F):5'- AGTGTCAGATCTTACACTGGCAGC -3'
(R):5'- TCCTGTGGAGGCTGCAAG -3'

Posted On

2016-07-06