Mutagenetix > Incidental Mutations

Incidental Mutation 'R1262:BC048679'

151624

Institutional Source

Beutler Lab

Gene Symbol

BC048679

Ensembl Gene

ENSMUSG00000061877

Gene Name

cDNA sequence BC048679

Synonyms

MMRRC Submission

039329-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1262 (G1)

Quality Score

152

Status

Not validated

Chromosome

Chromosomal Location

81494275-81498281 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81495341 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 85 (F85L)

Ref Sequence

ENSEMBL: ENSMUSP00000147131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073406] [ENSMUST00000082090] [ENSMUST00000144156] [ENSMUST00000152355] [ENSMUST00000207871]

AlphaFold

D3YXE9

Predicted Effect

probably benign
Transcript: ENSMUST00000073406

SMART Domains

Protein: ENSMUSP00000073114
Gene: ENSMUSG00000061877

Domain	Start	End	E-Value	Type
Pfam:NLPC_P60	3	101	6.4e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000082090

SMART Domains

Protein: ENSMUSP00000080739
Gene: ENSMUSG00000062444

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	34	590	8.2e-182	PFAM
low complexity region	689	782	N/A	INTRINSIC
AP3B1_C	801	947	4.58e-75	SMART
Blast:B2	971	1080	2e-12	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119121

SMART Domains

Protein: ENSMUSP00000114032
Gene: ENSMUSG00000062444

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	34	122	5.6e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144156
AA Change: F91L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120616
Gene: ENSMUSG00000061877
AA Change: F91L

Domain	Start	End	E-Value	Type
low complexity region	108	123	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152355

Predicted Effect

probably benign
Transcript: ENSMUST00000207871
AA Change: F85L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208911

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,935,488	V114A	probably benign	Het
Btbd7	A	G	12: 102,787,951	I852T	probably benign	Het
Cenpk	T	A	13: 104,230,785	V43E	possibly damaging	Het
Chmp7	C	T	14: 69,719,450	M336I	probably benign	Het
Cyp2b10	C	T	7: 25,915,411	T281M	probably benign	Het
Lrriq1	T	C	10: 103,234,137	D6G	possibly damaging	Het
Ltbp1	A	G	17: 75,225,285	Q118R	possibly damaging	Het
Nipsnap3b	G	T	4: 53,015,166	G71V	probably damaging	Het
Olfr623	G	A	7: 103,660,441	P270S	probably benign	Het
Olfr648	A	G	7: 104,179,416		probably null	Het
Snx25	T	A	8: 46,105,291	R80S	probably damaging	Het
Syt6	A	T	3: 103,585,340		probably null	Het
Tas1r2	G	A	4: 139,655,288	R79Q	probably damaging	Het
Ttc7	C	T	17: 87,340,936	T521I	probably benign	Het

Other mutations in BC048679

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02811:BC048679	APN	7	81495189	unclassified	probably benign
R0427:BC048679	UTSW	7	81495245	missense	probably benign	0.02
R4860:BC048679	UTSW	7	81495720	missense	probably benign	0.03
R4860:BC048679	UTSW	7	81495720	missense	probably benign	0.03
R5242:BC048679	UTSW	7	81495343	missense	probably damaging	0.97
R5972:BC048679	UTSW	7	81495731	missense	probably damaging	1.00
R6050:BC048679	UTSW	7	81495591	missense	possibly damaging	0.46
R6332:BC048679	UTSW	7	81495218	missense	probably benign	0.37
R6804:BC048679	UTSW	7	81496864	missense	possibly damaging	0.90
R8509:BC048679	UTSW	7	81495368	missense	probably benign	0.01
R9197:BC048679	UTSW	7	81495218	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- TGCCCAACAGGTTCAGTGCAAAG -3'
(R):5'- TGCGGCCAAGGAGAGATCATACAC -3'

Sequencing Primer
(F):5'- TGCACACAGTTGCTGCTA -3'
(R):5'- ATCATACACTTTGAGGGTGAGC -3'

Posted On

2014-01-29