Mutagenetix > Incidental Mutation

Incidental Mutation 'R3441:Krtap24-1'

267396

Institutional Source

Beutler Lab

Gene Symbol

Krtap24-1

Ensembl Gene

ENSMUSG00000050239

Gene Name

keratin associated protein 24-1

Synonyms

LOC239932, Gm312

MMRRC Submission

040659-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R3441 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88407597-88409167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88408713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 138 (T138A)

Ref Sequence

ENSEMBL: ENSMUSP00000052005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052512]

AlphaFold

G3X9A2

Predicted Effect

probably damaging
Transcript: ENSMUST00000052512
AA Change: T138A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052005
Gene: ENSMUSG00000050239
AA Change: T138A

Domain	Start	End	E-Value	Type
Pfam:PMG	1	190	2.1e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157658

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232360

Meta Mutation Damage Score

0.3427

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (34/35)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	C	8: 25,170,759 (GRCm39)		probably benign	Het
Ap5b1	A	G	19: 5,620,011 (GRCm39)	H477R	probably benign	Het
Asz1	A	C	6: 18,108,405 (GRCm39)	S68A	probably benign	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Btnl6	T	C	17: 34,727,292 (GRCm39)	K413E	probably benign	Het
Cav3	G	A	6: 112,449,402 (GRCm39)	C140Y	possibly damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cfap91	T	C	16: 38,154,168 (GRCm39)	M126V	probably benign	Het
Clrn3	A	C	7: 135,115,854 (GRCm39)	Y165*	probably null	Het
Cp	A	T	3: 20,029,121 (GRCm39)	M533L	probably benign	Het
Cyba	C	T	8: 123,151,803 (GRCm39)	W103*	probably null	Het
Epha4	G	T	1: 77,403,333 (GRCm39)	N95K	possibly damaging	Het
Fsip2	A	G	2: 82,817,071 (GRCm39)	N4268S	probably benign	Het
Glb1l2	C	T	9: 26,692,038 (GRCm39)	A74T	probably damaging	Het
Gtf3c6	T	A	10: 40,127,169 (GRCm39)	E123V	probably null	Het
Htr3b	T	C	9: 48,856,815 (GRCm39)	D221G	probably benign	Het
Hyal6	C	T	6: 24,734,592 (GRCm39)	A175V	probably benign	Het
Kif1a	C	T	1: 92,964,575 (GRCm39)	D1334N	possibly damaging	Het
Mrc2	A	T	11: 105,238,542 (GRCm39)	T1230S	possibly damaging	Het
Mx1	T	A	16: 97,257,431 (GRCm39)	I109F	probably damaging	Het
Nav3	A	G	10: 109,540,789 (GRCm39)	F1947S	probably benign	Het
Or12e1	A	G	2: 87,022,162 (GRCm39)	I44V	probably benign	Het
Or6k2	A	T	1: 173,986,746 (GRCm39)	M136L	probably benign	Het
Plxnc1	G	A	10: 94,706,872 (GRCm39)	T555I	probably benign	Het
Rab21	CCCGCCGCCGCCGCCGCC	CCCGCCGCCGCCGCC	10: 115,151,214 (GRCm39)		probably benign	Het
Rag2	T	A	2: 101,460,645 (GRCm39)	F318L	probably damaging	Het
Scgb2b24	G	T	7: 33,438,025 (GRCm39)	F27L	probably damaging	Het
Tchh	A	T	3: 93,352,414 (GRCm39)	D618V	unknown	Het
Teddm1b	A	G	1: 153,751,007 (GRCm39)	E272G	probably benign	Het
Tenm4	A	T	7: 96,202,723 (GRCm39)	M88L	probably benign	Het
Tfpi2	A	T	6: 3,965,504 (GRCm39)	Y103N	probably benign	Het
Tmem98	A	G	11: 80,705,125 (GRCm39)	N71S	probably damaging	Het
Vmn1r181	A	G	7: 23,684,308 (GRCm39)	I258V	probably benign	Het

Other mutations in Krtap24-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02719:Krtap24-1	APN	16	88,409,094 (GRCm39)	missense	probably benign	0.02
R1196:Krtap24-1	UTSW	16	88,408,530 (GRCm39)	missense	probably benign	0.01
R4779:Krtap24-1	UTSW	16	88,408,417 (GRCm39)	missense	probably damaging	1.00
R5518:Krtap24-1	UTSW	16	88,408,596 (GRCm39)	missense	probably damaging	1.00
R6418:Krtap24-1	UTSW	16	88,408,761 (GRCm39)	missense	probably damaging	1.00
R7124:Krtap24-1	UTSW	16	88,408,434 (GRCm39)	missense	probably damaging	0.99
R8167:Krtap24-1	UTSW	16	88,408,707 (GRCm39)	missense	probably benign	0.13
R8924:Krtap24-1	UTSW	16	88,408,888 (GRCm39)	missense	probably benign	0.02
R9566:Krtap24-1	UTSW	16	88,408,886 (GRCm39)	missense
R9718:Krtap24-1	UTSW	16	88,408,378 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- GAAGGCACGTAATTTGGATACTGG -3'
(R):5'- CTCCAAGTTGTGATCCCACG -3'

Sequencing Primer
(F):5'- TGGATACTGGCAATATCTCATTAGG -3'
(R):5'- AAGTTGTGATCCCACGGACTC -3'

Posted On

2015-02-18