Mutagenetix > Incidental Mutation

Incidental Mutation 'R2972:BC048507'

255255

Institutional Source

Beutler Lab

Gene Symbol

BC048507

Ensembl Gene

ENSMUSG00000064063

Gene Name

cDNA sequence BC048507

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R2972 (G1)

Quality Score

225

Status

Not 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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Card9	C	T	2: 26,247,222 (GRCm39)	R309H	probably damaging	Het
Clec14a	T	A	12: 58,314,360 (GRCm39)	R421W	probably damaging	Het
Crnkl1	A	G	2: 145,774,181 (GRCm39)	L94P	probably benign	Het
D930007J09Rik	C	T	13: 32,986,742 (GRCm39)		probably benign	Het
Dhrs7c	T	A	11: 67,706,697 (GRCm39)	I285N	possibly damaging	Het
Golga2	A	G	2: 32,195,671 (GRCm39)	N752S	probably benign	Het
Klrb1-ps1	A	G	6: 129,096,719 (GRCm39)		noncoding transcript	Het
Nin	G	A	12: 70,109,487 (GRCm39)	R151C	probably damaging	Het
Nsun6	A	C	2: 15,042,883 (GRCm39)		probably null	Het
Nyap2	C	T	1: 81,169,485 (GRCm39)	R81*	probably null	Het
Or1n2	G	A	2: 36,797,416 (GRCm39)	V153M	probably benign	Het
Or4a69	G	T	2: 89,313,120 (GRCm39)	R120S	possibly damaging	Het
Pkhd1l1	T	A	15: 44,410,644 (GRCm39)	M2717K	possibly damaging	Het
Ralgapa1	T	C	12: 55,867,540 (GRCm39)	K5E	possibly damaging	Het
Rnf130	T	A	11: 49,984,627 (GRCm39)	L309*	probably null	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	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
Slc10a5	A	T	3: 10,399,517 (GRCm39)	I381N	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
Ubr4	T	C	4: 139,133,847 (GRCm39)	Y748H	probably benign	Het
Ugt8a	T	C	3: 125,708,957 (GRCm39)	H51R	probably benign	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
R2973:BC048507	UTSW	13	68,011,749 (GRCm39)	missense	probably benign	0.03
R2974: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'- ATTTAGCTAAGAGATGCGCCAC -3'
(R):5'- TTAGGATGCAGTCAGTCCACG -3'

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

Posted On

2014-12-29