Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02489:Bicd1'

295555

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bicd1

Ensembl Gene

ENSMUSG00000003452

Gene Name

BICD cargo adaptor 1

Synonyms

B830009D06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02489

Quality Score

Status

Chromosome

Chromosomal Location

149310384-149464827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 149414535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 416 (L416P)

Ref Sequence

ENSEMBL: ENSMUSP00000133727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003544] [ENSMUST00000086829] [ENSMUST00000111513] [ENSMUST00000172926] [ENSMUST00000173408]

AlphaFold

Q8BR07

Predicted Effect

probably damaging
Transcript: ENSMUST00000003544
AA Change: L416P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000003544
Gene: ENSMUSG00000003452
AA Change: L416P

Domain	Start	End	E-Value	Type
low complexity region	14	32	N/A	INTRINSIC
Pfam:BicD	74	799	N/A	PFAM
low complexity region	807	820	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000086829
AA Change: L416P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000084039
Gene: ENSMUSG00000003452
AA Change: L416P

Domain	Start	End	E-Value	Type
low complexity region	14	32	N/A	INTRINSIC
Pfam:BicD	74	799	N/A	PFAM
low complexity region	807	820	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111513
AA Change: L416P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107138
Gene: ENSMUSG00000003452
AA Change: L416P

Domain	Start	End	E-Value	Type
low complexity region	14	32	N/A	INTRINSIC
Pfam:BicD	74	799	N/A	PFAM
low complexity region	807	822	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172926

SMART Domains

Protein: ENSMUSP00000133986
Gene: ENSMUSG00000003452

Domain	Start	End	E-Value	Type
Pfam:BicD	1	98	1.2e-69	PFAM
low complexity region	103	120	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000173408
AA Change: L416P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133727
Gene: ENSMUSG00000003452
AA Change: L416P

Domain	Start	End	E-Value	Type
low complexity region	14	32	N/A	INTRINSIC
Pfam:BicD	74	799	N/A	PFAM
low complexity region	807	820	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174886

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of two human homologs of Drosophila bicaudal-D. It has been implicated in COPI-independent membrane transport from the Golgi apparatus to the endoplasmic reticulum. Two alternative splice variants have been described. Other alternative splice variants that encode different protein isoforms have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,780,847 (GRCm39)		probably benign	Het
Aldh6a1	T	C	12: 84,480,746 (GRCm39)	T430A	possibly damaging	Het
Ankrd6	T	C	4: 32,810,298 (GRCm39)	D426G	probably damaging	Het
Arhgef37	A	G	18: 61,639,540 (GRCm39)	S280P	possibly damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cenpp	T	C	13: 49,803,594 (GRCm39)		probably null	Het
Col5a2	T	C	1: 45,431,971 (GRCm39)		probably null	Het
Ctsa	A	G	2: 164,680,565 (GRCm39)	Y402C	probably damaging	Het
Dnah7a	A	G	1: 53,686,481 (GRCm39)	V223A	possibly damaging	Het
Dnajb3	G	T	1: 88,133,032 (GRCm39)	N123K	probably benign	Het
Fhad1	G	T	4: 141,684,931 (GRCm39)	N469K	probably damaging	Het
Fmo3	G	T	1: 162,781,856 (GRCm39)	T499K	possibly damaging	Het
Gm10100	G	A	10: 77,562,645 (GRCm39)	C109Y	probably benign	Het
Lrrc27	G	T	7: 138,805,977 (GRCm39)	R214L	probably benign	Het
Mc5r	T	A	18: 68,472,597 (GRCm39)	C319S	probably damaging	Het
Nwd2	A	C	5: 63,962,570 (GRCm39)	Y718S	probably damaging	Het
Or8h7	T	G	2: 86,721,339 (GRCm39)	Y60S	probably damaging	Het
Ppa1	T	A	10: 61,501,223 (GRCm39)	D163E	probably damaging	Het
Ptprk	G	T	10: 28,259,468 (GRCm39)	G303W	probably damaging	Het
Rnf182	T	C	13: 43,821,779 (GRCm39)	L110P	probably damaging	Het
Slc12a2	T	C	18: 58,045,074 (GRCm39)	F659S	probably damaging	Het
Slc5a3	T	A	16: 91,874,593 (GRCm39)	Y217N	possibly damaging	Het
Ttc41	G	T	10: 86,596,778 (GRCm39)	E1008*	probably null	Het
Unc80	T	C	1: 66,564,860 (GRCm39)	M849T	probably benign	Het
Vmn2r76	A	T	7: 85,878,071 (GRCm39)	I442N	probably benign	Het

Other mutations in Bicd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Bicd1	APN	6	149,451,888 (GRCm39)	missense	possibly damaging	0.72
IGL02626:Bicd1	APN	6	149,311,054 (GRCm39)	missense	probably damaging	1.00
IGL02966:Bicd1	APN	6	149,385,494 (GRCm39)	missense	probably damaging	0.99
IGL03256:Bicd1	APN	6	149,415,083 (GRCm39)	missense	probably benign
R0123:Bicd1	UTSW	6	149,414,448 (GRCm39)	missense	probably benign	0.00
R0131:Bicd1	UTSW	6	149,414,445 (GRCm39)	missense	probably damaging	0.99
R0134:Bicd1	UTSW	6	149,414,448 (GRCm39)	missense	probably benign	0.00
R0225:Bicd1	UTSW	6	149,414,448 (GRCm39)	missense	probably benign	0.00
R0267:Bicd1	UTSW	6	149,418,540 (GRCm39)	missense	probably damaging	1.00
R0481:Bicd1	UTSW	6	149,413,389 (GRCm39)	missense	possibly damaging	0.90
R0560:Bicd1	UTSW	6	149,413,460 (GRCm39)	missense	probably benign	0.34
R0729:Bicd1	UTSW	6	149,414,412 (GRCm39)	missense	probably damaging	0.97
R0784:Bicd1	UTSW	6	149,414,861 (GRCm39)	missense	probably damaging	0.98
R1994:Bicd1	UTSW	6	149,415,050 (GRCm39)	missense	probably benign	0.00
R2221:Bicd1	UTSW	6	149,418,503 (GRCm39)	missense	probably damaging	0.98
R2762:Bicd1	UTSW	6	149,421,901 (GRCm39)	missense	probably damaging	0.99
R3428:Bicd1	UTSW	6	149,414,400 (GRCm39)	missense	probably damaging	1.00
R3805:Bicd1	UTSW	6	149,420,489 (GRCm39)	missense	probably damaging	1.00
R3806:Bicd1	UTSW	6	149,420,489 (GRCm39)	missense	probably damaging	1.00
R3807:Bicd1	UTSW	6	149,420,489 (GRCm39)	missense	probably damaging	1.00
R4694:Bicd1	UTSW	6	149,311,051 (GRCm39)	missense	probably damaging	1.00
R4822:Bicd1	UTSW	6	149,420,752 (GRCm39)	intron	probably benign
R4835:Bicd1	UTSW	6	149,385,588 (GRCm39)	missense	probably benign	0.00
R5157:Bicd1	UTSW	6	149,421,912 (GRCm39)	missense	probably benign	0.09
R5527:Bicd1	UTSW	6	149,396,134 (GRCm39)	missense	probably damaging	1.00
R5611:Bicd1	UTSW	6	149,414,954 (GRCm39)	nonsense	probably null
R5643:Bicd1	UTSW	6	149,421,901 (GRCm39)	missense	probably damaging	0.99
R5644:Bicd1	UTSW	6	149,421,901 (GRCm39)	missense	probably damaging	0.99
R5788:Bicd1	UTSW	6	149,385,498 (GRCm39)	missense	probably benign	0.39
R5898:Bicd1	UTSW	6	149,415,201 (GRCm39)	missense	probably damaging	0.99
R6222:Bicd1	UTSW	6	149,414,463 (GRCm39)	missense	probably damaging	1.00
R6227:Bicd1	UTSW	6	149,414,674 (GRCm39)	nonsense	probably null
R6522:Bicd1	UTSW	6	149,385,503 (GRCm39)	missense	probably benign
R6781:Bicd1	UTSW	6	149,414,664 (GRCm39)	missense	possibly damaging	0.86
R6812:Bicd1	UTSW	6	149,311,035 (GRCm39)	missense	probably damaging	1.00
R7010:Bicd1	UTSW	6	149,396,113 (GRCm39)	missense	probably damaging	1.00
R7203:Bicd1	UTSW	6	149,414,403 (GRCm39)	missense	possibly damaging	0.91
R7265:Bicd1	UTSW	6	149,415,374 (GRCm39)	missense	probably damaging	1.00
R7362:Bicd1	UTSW	6	149,385,591 (GRCm39)	missense	probably benign	0.13
R7526:Bicd1	UTSW	6	149,415,224 (GRCm39)	missense	possibly damaging	0.46
R7545:Bicd1	UTSW	6	149,414,990 (GRCm39)	missense	probably benign
R7581:Bicd1	UTSW	6	149,420,502 (GRCm39)	missense	probably damaging	1.00
R7589:Bicd1	UTSW	6	149,415,165 (GRCm39)	missense	possibly damaging	0.61
R7639:Bicd1	UTSW	6	149,414,502 (GRCm39)	missense	possibly damaging	0.92
R7715:Bicd1	UTSW	6	149,414,471 (GRCm39)	missense	probably benign	0.11
R8188:Bicd1	UTSW	6	149,451,854 (GRCm39)	missense	probably damaging	0.98
R8271:Bicd1	UTSW	6	149,414,633 (GRCm39)	missense	probably benign	0.00
R8338:Bicd1	UTSW	6	149,414,621 (GRCm39)	missense	probably benign	0.00
R8375:Bicd1	UTSW	6	149,421,989 (GRCm39)	missense	probably benign
R8696:Bicd1	UTSW	6	149,415,285 (GRCm39)	missense	probably damaging	1.00
R8770:Bicd1	UTSW	6	149,420,448 (GRCm39)	missense	probably damaging	1.00
R9116:Bicd1	UTSW	6	149,385,674 (GRCm39)	missense	probably benign	0.00
R9505:Bicd1	UTSW	6	149,385,522 (GRCm39)	missense	probably benign	0.02
R9513:Bicd1	UTSW	6	149,414,391 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16