Mutagenetix > Incidental Mutation

Incidental Mutation 'R3948:Krtap13'

307800

Institutional Source

Beutler Lab

Gene Symbol

Krtap13

Ensembl Gene

ENSMUSG00000050224

Gene Name

keratin associated protein 13

Synonyms

4C32

MMRRC Submission

040928-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R3948 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88547632-88548516 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88547957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 177 (L177P)

Ref Sequence

ENSEMBL: ENSMUSP00000061716 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053149]

AlphaFold

O88375

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053149
AA Change: L177P

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000061716
Gene: ENSMUSG00000050224
AA Change: L177P

Domain	Start	End	E-Value	Type
Pfam:PMG	1	77	5.1e-28	PFAM
Pfam:PMG	73	196	8.7e-35	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat1	A	G	4: 49,447,477 (GRCm39)	L368P	possibly damaging	Het
Adgrg4	C	T	X: 55,963,114 (GRCm39)	T1561I	probably benign	Het
Ankrd50	A	G	3: 38,536,990 (GRCm39)	L121S	possibly damaging	Het
Arfgef1	CAGAG	CAG	1: 10,212,811 (GRCm39)		probably null	Het
Avil	A	G	10: 126,850,074 (GRCm39)	S642G	probably benign	Het
Avl9	T	C	6: 56,705,650 (GRCm39)		probably null	Het
Dhx15	T	C	5: 52,318,922 (GRCm39)		probably benign	Het
Disc1	A	G	8: 125,814,874 (GRCm39)	E246G	probably damaging	Het
Dyrk4	A	G	6: 126,862,268 (GRCm39)	I408T	probably damaging	Het
Fbxo38	A	G	18: 62,662,615 (GRCm39)		probably benign	Het
H2-T24	T	C	17: 36,328,264 (GRCm39)	Y73C	probably damaging	Het
Hal	T	C	10: 93,325,769 (GRCm39)	I94T	possibly damaging	Het
Iqsec3	A	T	6: 121,364,783 (GRCm39)	Y835*	probably null	Het
Irak3	T	A	10: 120,006,278 (GRCm39)	M213L	probably benign	Het
Kcnj2	A	G	11: 110,963,481 (GRCm39)	D291G	possibly damaging	Het
Mios	A	G	6: 8,215,496 (GRCm39)	T231A	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Odr4	A	T	1: 150,264,308 (GRCm39)	L67*	probably null	Het
Or4c122	A	G	2: 89,079,336 (GRCm39)	F234S	possibly damaging	Het
Pramel30	A	C	4: 144,057,876 (GRCm39)	Q161P	probably benign	Het
Ralgapa1	C	A	12: 55,745,552 (GRCm39)	V1268F	probably damaging	Het
Rev1	A	T	1: 38,113,414 (GRCm39)	M551K	possibly damaging	Het
Serpinb9c	A	C	13: 33,334,077 (GRCm39)	C322G	probably benign	Het
Slc28a3	C	T	13: 58,710,824 (GRCm39)		probably null	Het
Slc35e4	A	T	11: 3,862,970 (GRCm39)	V73E	probably damaging	Het
Ssh2	A	G	11: 77,289,082 (GRCm39)	D88G	probably damaging	Het
Trim5	G	A	7: 103,915,727 (GRCm39)	Q273*	probably null	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vps13d	G	A	4: 144,867,910 (GRCm39)	T1974M	probably damaging	Het
Wdr25	T	A	12: 108,993,208 (GRCm39)	C475S	probably benign	Het
Zfp202	C	A	9: 40,119,721 (GRCm39)	H175N	probably benign	Het
Zfp248	TTAAATTCAT	TT	6: 118,407,155 (GRCm39)		probably null	Het

Other mutations in Krtap13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Krtap13	APN	16	88,548,423 (GRCm39)	missense	possibly damaging	0.84
R2852:Krtap13	UTSW	16	88,548,524 (GRCm39)	unclassified	probably benign
R5120:Krtap13	UTSW	16	88,548,458 (GRCm39)	missense	probably damaging	1.00
R6242:Krtap13	UTSW	16	88,548,384 (GRCm39)	missense	probably damaging	0.99
R6354:Krtap13	UTSW	16	88,548,131 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACATAGGTTTGCAACAGAAACAAG -3'
(R):5'- GACATATGCTGGCTCTCTGG -3'

Sequencing Primer
(F):5'- TGACAGAATTTCAAATATGAGGGC -3'
(R):5'- GGCTTTGGGTCCAGAAGC -3'

Posted On

2015-04-17