Mutagenetix > Incidental Mutation

Incidental Mutation 'R2307:Krtap5-4'

244638

Institutional Source

Beutler Lab

Gene Symbol

Krtap5-4

Ensembl Gene

ENSMUSG00000045236

Gene Name

keratin associated protein 5-4

Synonyms

MMRRC Submission

040306-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R2307 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141857239-141858240 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 141857351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 7 (S7*)

Ref Sequence

ENSEMBL: ENSMUSP00000059461 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061403]

AlphaFold

Q62220

Predicted Effect

probably null
Transcript: ENSMUST00000061403
AA Change: S7*

SMART Domains

Protein: ENSMUSP00000059461
Gene: ENSMUSG00000045236
AA Change: S7*

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	119	163	1.4e-5	PFAM
Pfam:Keratin_B2_2	183	222	1.1e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119351

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 97.0%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	T	C	12: 84,122,375 (GRCm39)	F320L	possibly damaging	Het
Alox12e	T	C	11: 70,212,087 (GRCm39)	K170R	probably damaging	Het
Ano2	T	C	6: 125,969,849 (GRCm39)	S722P	probably benign	Het
Cep192	A	G	18: 67,946,970 (GRCm39)	Y215C	probably benign	Het
Ces2g	A	G	8: 105,695,044 (GRCm39)	N555S	probably benign	Het
Cfap58	C	T	19: 47,950,925 (GRCm39)	Q429*	probably null	Het
Clcnkb	A	G	4: 141,139,640 (GRCm39)	S121P	probably damaging	Het
Cltb	T	A	13: 54,746,564 (GRCm39)	E67D	probably damaging	Het
Ddhd1	A	T	14: 45,846,447 (GRCm39)	L581Q	probably damaging	Het
Dnajc3	T	C	14: 119,190,633 (GRCm39)		probably null	Het
Fgf14	T	A	14: 124,221,234 (GRCm39)	N190I	probably damaging	Het
Galnt17	T	G	5: 130,929,460 (GRCm39)	Y449S	probably damaging	Het
Grin3a	C	T	4: 49,793,033 (GRCm39)		probably null	Het
Gxylt2	A	G	6: 100,764,173 (GRCm39)	N286S	probably damaging	Het
H2-K2	A	G	17: 34,216,113 (GRCm39)	V120A	probably benign	Het
Inpp5f	T	C	7: 128,296,034 (GRCm39)	V168A	probably damaging	Het
Kif1a	G	T	1: 93,006,491 (GRCm39)	H59N	probably damaging	Het
Krt24	T	C	11: 99,175,456 (GRCm39)	Q193R	possibly damaging	Het
Ltn1	A	G	16: 87,229,312 (GRCm39)		probably null	Het
Mcm2	G	A	6: 88,869,990 (GRCm39)	R60C	probably damaging	Het
Mep1b	A	T	18: 21,221,632 (GRCm39)	D194V	probably damaging	Het
Mettl25b	A	T	3: 87,834,162 (GRCm39)	M171K	possibly damaging	Het
Orc3	C	T	4: 34,586,503 (GRCm39)	V382M	probably damaging	Het
Pclo	T	A	5: 14,728,665 (GRCm39)		probably benign	Het
Pcolce	T	C	5: 137,607,356 (GRCm39)	H45R	probably damaging	Het
Prf1	T	C	10: 61,138,942 (GRCm39)	V300A	possibly damaging	Het
Prorp	T	C	12: 55,351,101 (GRCm39)	F137L	probably damaging	Het
Prss53	T	C	7: 127,490,037 (GRCm39)	I18V	probably benign	Het
Rnase2b	A	G	14: 51,400,188 (GRCm39)	T90A	probably benign	Het
Rpap1	G	A	2: 119,614,247 (GRCm39)	P50L	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sec16b	G	A	1: 157,363,062 (GRCm39)	V298I	probably damaging	Het
Smarcd3	C	T	5: 24,800,746 (GRCm39)	R156Q	probably damaging	Het
St6galnac2	C	T	11: 116,572,731 (GRCm39)	A242T	probably damaging	Het
Syce1l	T	C	8: 114,369,937 (GRCm39)		probably null	Het
Tcam1	T	C	11: 106,174,940 (GRCm39)	C132R	probably damaging	Het
Trpa1	T	C	1: 14,982,605 (GRCm39)	I84V	probably benign	Het
Ttn	G	A	2: 76,717,342 (GRCm39)	R455*	probably null	Het
Ubl5	T	A	9: 20,557,876 (GRCm39)		probably benign	Het
Ubr2	T	A	17: 47,277,141 (GRCm39)	K779*	probably null	Het
Ugt1a10	A	G	1: 87,983,669 (GRCm39)	I156V	probably benign	Het
Unc13b	A	G	4: 43,239,854 (GRCm39)	T3513A	probably damaging	Het
Vmn1r20	C	T	6: 57,409,121 (GRCm39)	T149I	probably benign	Het
Zfp804a	T	A	2: 82,087,201 (GRCm39)	D343E	probably benign	Het

Other mutations in Krtap5-4

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01019:Krtap5-4	APN	7	141,857,647 (GRCm39)	missense	unknown
R4657:Krtap5-4	UTSW	7	141,857,491 (GRCm39)	missense	unknown
R6318:Krtap5-4	UTSW	7	141,857,827 (GRCm39)	missense	unknown
R7084:Krtap5-4	UTSW	7	141,857,609 (GRCm39)	missense	unknown
R7162:Krtap5-4	UTSW	7	141,857,335 (GRCm39)	missense	unknown
R7876:Krtap5-4	UTSW	7	141,857,585 (GRCm39)	missense	unknown
R7961:Krtap5-4	UTSW	7	141,857,671 (GRCm39)	nonsense	probably null
R8009:Krtap5-4	UTSW	7	141,857,671 (GRCm39)	nonsense	probably null
R9653:Krtap5-4	UTSW	7	141,857,908 (GRCm39)	missense	unknown
X0052:Krtap5-4	UTSW	7	141,857,641 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TAGACCATGCAGAAGAGAATCC -3'
(R):5'- CTGGATTGACAACAGCCTCC -3'

Sequencing Primer
(F):5'- TGCAGAAGAGAATCCTAAACTATGAC -3'
(R):5'- GATTGACAACAGCCTCCCTTGC -3'

Posted On

2014-10-30