Mutagenetix > Incidental Mutation

Incidental Mutation 'R2974:BC048507'

255329

Institutional Source

Beutler Lab

Gene Symbol

BC048507

Ensembl Gene

ENSMUSG00000064063

Gene Name

cDNA sequence BC048507

Synonyms

MMRRC Submission

040527-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R2974 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68011445-68012042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68011749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 42 (I42T)

Ref Sequence

ENSEMBL: ENSMUSP00000077564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078471]

AlphaFold

Q80ZS7

Predicted Effect

probably benign
Transcript: ENSMUST00000078471
AA Change: I42T

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000077564
Gene: ENSMUSG00000064063
AA Change: I42T

Domain	Start	End	E-Value	Type
Dynein_light	1	88	1.05e-56	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

97% (38/39)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	G	10: 79,844,801 (GRCm39)	F1508V	probably damaging	Het
Aoc1l1	A	G	6: 48,953,358 (GRCm39)	T428A	probably benign	Het
Cop1	A	G	1: 159,152,499 (GRCm39)	H583R	possibly damaging	Het
Crnkl1	A	G	2: 145,774,181 (GRCm39)	L94P	probably benign	Het
Cstdc2	T	C	2: 148,692,706 (GRCm39)	D32G	probably benign	Het
Ctu1	A	G	7: 43,325,074 (GRCm39)		probably benign	Het
D930007J09Rik	C	T	13: 32,986,742 (GRCm39)		probably benign	Het
Depdc5	T	C	5: 33,091,361 (GRCm39)		probably null	Het
Dnah14	A	T	1: 181,582,806 (GRCm39)		probably null	Het
Dpp10	A	G	1: 123,339,434 (GRCm39)		probably benign	Het
Gsdme	A	G	6: 50,206,304 (GRCm39)	C180R	probably damaging	Het
Gse1	C	A	8: 121,297,636 (GRCm39)		probably benign	Het
Med15	T	C	16: 17,470,575 (GRCm39)	Y744C	probably damaging	Het
Nlrp4d	A	G	7: 10,112,367 (GRCm39)		probably benign	Het
Nyap2	C	T	1: 81,169,485 (GRCm39)	R81*	probably null	Het
Or4p21	A	T	2: 88,276,918 (GRCm39)	C121*	probably null	Het
Or8g30	T	C	9: 39,230,292 (GRCm39)	N206S	probably damaging	Het
Phax	T	A	18: 56,706,134 (GRCm39)	M8K	probably benign	Het
Plec	C	G	15: 76,072,961 (GRCm39)	G631R	probably damaging	Het
Rgs3	A	T	4: 62,558,957 (GRCm39)	T476S	probably damaging	Het
Rogdi	G	T	16: 4,829,526 (GRCm39)	Q90K	probably damaging	Het
Rxrg	G	A	1: 167,466,715 (GRCm39)	R422H	probably damaging	Het
Serpinb9e	T	A	13: 33,439,126 (GRCm39)	V184E	probably benign	Het
Simc1	A	G	13: 54,698,274 (GRCm39)	D397G	probably damaging	Het
Slc25a27	T	C	17: 43,964,262 (GRCm39)	N203D	probably damaging	Het
Slit1	G	A	19: 41,599,455 (GRCm39)	P1032L	probably benign	Het
Sptlc3	A	G	2: 139,431,581 (GRCm39)	T368A	probably damaging	Het
Tnip1	C	T	11: 54,824,809 (GRCm39)		probably benign	Het
Tpgs1	A	G	10: 79,505,449 (GRCm39)	E69G	probably damaging	Het
Trpv5	T	C	6: 41,630,165 (GRCm39)	S642G	possibly damaging	Het
Ube2d2a	T	A	18: 35,933,225 (GRCm39)	D87E	possibly damaging	Het
Vmn2r117	A	G	17: 23,678,830 (GRCm39)	V798A	probably damaging	Het
Vmn2r77	T	C	7: 86,452,893 (GRCm39)	Y537H	probably benign	Het

Other mutations in BC048507

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2252:BC048507	UTSW	13	68,011,626 (GRCm39)	start codon destroyed	probably null	0.97
R2972:BC048507	UTSW	13	68,011,749 (GRCm39)	missense	probably benign	0.03
R2973:BC048507	UTSW	13	68,011,749 (GRCm39)	missense	probably benign	0.03
R5463:BC048507	UTSW	13	68,011,817 (GRCm39)	missense	probably damaging	1.00
R6075:BC048507	UTSW	13	68,011,823 (GRCm39)	missense	probably benign	0.07
R6798:BC048507	UTSW	13	68,011,683 (GRCm39)	missense	probably benign	0.29
R7053:BC048507	UTSW	13	68,011,772 (GRCm39)	missense	probably benign	0.06
R8887:BC048507	UTSW	13	68,011,628 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAGCTAAGAGATGCGCCAC -3'
(R):5'- TTTAGGATGCAGTCAGTCCAC -3'

Sequencing Primer
(F):5'- TTCGGCTTCAGCAGGGAC -3'
(R):5'- CCACGCTTTTACCCAGATTTGAAGAG -3'

Posted On

2014-12-29