Mutagenetix > Incidental Mutation

Incidental Mutation 'R0481:Bicd1'

43367

Institutional Source

Beutler Lab

Gene Symbol

Bicd1

Ensembl Gene

ENSMUSG00000003452

Gene Name

BICD cargo adaptor 1

Synonyms

B830009D06Rik

MMRRC Submission

038681-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0481 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

149310384-149464827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 149413389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 260 (D260V)

Ref Sequence

ENSEMBL: ENSMUSP00000133727 (fasta)

Gene Model

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

AlphaFold

Q8BR07

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003544
AA Change: D260V

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003544
Gene: ENSMUSG00000003452
AA Change: D260V

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 benign
Transcript: ENSMUST00000086829
AA Change: D260V

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000084039
Gene: ENSMUSG00000003452
AA Change: D260V

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 benign
Transcript: ENSMUST00000111513
AA Change: D260V

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107138
Gene: ENSMUSG00000003452
AA Change: D260V

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

possibly damaging
Transcript: ENSMUST00000173408
AA Change: D260V

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133727
Gene: ENSMUSG00000003452
AA Change: D260V

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

Meta Mutation Damage Score

0.3620

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

95% (89/94)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,190,666 (GRCm39)	N39Y	probably benign	Het
Adamts10	C	T	17: 33,768,347 (GRCm39)	Q840*	probably null	Het
Aff2	C	T	X: 68,878,248 (GRCm39)	T678I	probably damaging	Het
Ahctf1	A	G	1: 179,587,836 (GRCm39)	V1418A	probably benign	Het
Ankrd11	G	A	8: 123,626,775 (GRCm39)	R136C	probably damaging	Het
Arf5	A	G	6: 28,426,075 (GRCm39)	Y154C	probably damaging	Het
AW551984	A	G	9: 39,511,912 (GRCm39)	V33A	probably null	Het
B4galt5	A	G	2: 167,151,154 (GRCm39)	L118P	probably damaging	Het
Bcl9l	A	G	9: 44,417,979 (GRCm39)	I606V	probably benign	Het
Bdp1	A	G	13: 100,177,962 (GRCm39)	I1969T	probably benign	Het
Cap1	A	T	4: 122,756,868 (GRCm39)	H272Q	possibly damaging	Het
Ccnk	A	G	12: 108,165,568 (GRCm39)		probably benign	Het
Cd209f	A	T	8: 4,155,558 (GRCm39)		probably null	Het
Cdk13	C	A	13: 17,894,079 (GRCm39)	A1123S	probably damaging	Het
Cdx1	C	T	18: 61,153,564 (GRCm39)	R158H	probably damaging	Het
Chd8	A	G	14: 52,474,663 (GRCm39)	S123P	probably benign	Het
Cwc22	G	A	2: 77,738,455 (GRCm39)	A497V	probably damaging	Het
Cwh43	T	C	5: 73,575,370 (GRCm39)	S296P	probably damaging	Het
Dhx38	A	T	8: 110,282,848 (GRCm39)		probably benign	Het
Dnah5	T	A	15: 28,383,745 (GRCm39)	M2989K	probably benign	Het
Dpy19l4	A	C	4: 11,272,993 (GRCm39)		probably benign	Het
F11r	A	T	1: 171,288,847 (GRCm39)	H155L	probably benign	Het
Fcgbpl1	A	T	7: 27,853,174 (GRCm39)	D1487V	probably damaging	Het
Fitm2	A	G	2: 163,311,634 (GRCm39)	V193A	probably benign	Het
Foxk1	T	A	5: 142,434,578 (GRCm39)	S281T	probably benign	Het
Furin	A	G	7: 80,043,297 (GRCm39)	C305R	probably damaging	Het
Fut8	T	A	12: 77,495,334 (GRCm39)	V308D	probably damaging	Het
Gjb3	T	A	4: 127,220,125 (GRCm39)	I136F	probably benign	Het
Glmn	A	T	5: 107,708,800 (GRCm39)	S385T	probably benign	Het
Glp1r	T	A	17: 31,150,191 (GRCm39)	M371K	probably benign	Het
Gpr179	T	C	11: 97,240,544 (GRCm39)	H293R	probably damaging	Het
H2-M11	A	T	17: 36,859,846 (GRCm39)	R280*	probably null	Het
Hadhb	T	A	5: 30,373,543 (GRCm39)	H78Q	probably damaging	Het
Hectd4	A	G	5: 121,433,569 (GRCm39)		probably benign	Het
Hexa	A	G	9: 59,462,693 (GRCm39)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Hyal6	G	A	6: 24,743,417 (GRCm39)	C371Y	probably damaging	Het
Il1rap	T	C	16: 26,511,585 (GRCm39)	Y210H	probably damaging	Het
Ino80	A	T	2: 119,261,497 (GRCm39)	H722Q	probably damaging	Het
Kcnt1	A	G	2: 25,782,508 (GRCm39)	N200S	probably damaging	Het
Kif27	T	A	13: 58,459,078 (GRCm39)		probably benign	Het
Lyst	T	C	13: 13,852,537 (GRCm39)	V2179A	probably benign	Het
Macf1	C	A	4: 123,377,815 (GRCm39)		probably null	Het
Mamdc4	A	G	2: 25,461,228 (GRCm39)	M1T	probably null	Het
Mansc4	A	G	6: 146,976,725 (GRCm39)	I297T	possibly damaging	Het
Mdn1	G	A	4: 32,767,182 (GRCm39)		probably benign	Het
Mib2	A	G	4: 155,740,519 (GRCm39)		probably benign	Het
Mon2	A	G	10: 122,849,301 (GRCm39)	V1333A	possibly damaging	Het
Ndst2	T	C	14: 20,774,536 (GRCm39)	D840G	possibly damaging	Het
Nell2	A	T	15: 95,330,563 (GRCm39)		probably null	Het
Or4c102	A	T	2: 88,422,999 (GRCm39)	I284F	probably damaging	Het
Or4k51	T	A	2: 111,584,930 (GRCm39)	M112K	probably damaging	Het
Or5g29	C	A	2: 85,421,448 (GRCm39)	A188E	possibly damaging	Het
Pde5a	C	T	3: 122,611,726 (GRCm39)		probably benign	Het
Phip	A	G	9: 82,758,769 (GRCm39)		probably benign	Het
Polr2b	A	G	5: 77,479,929 (GRCm39)	I561V	possibly damaging	Het
Ppp4r3c2	T	C	X: 88,796,299 (GRCm39)	S44P	probably damaging	Het
Prkg2	A	T	5: 99,142,514 (GRCm39)		probably null	Het
Prl8a6	T	C	13: 27,617,084 (GRCm39)	D201G	probably benign	Het
Ptk6	G	A	2: 180,844,320 (GRCm39)		probably benign	Het
Ptprn2	T	C	12: 117,175,466 (GRCm39)		probably benign	Het
Rdh1	G	T	10: 127,598,993 (GRCm39)	R158L	probably damaging	Het
Rhbdl3	T	C	11: 80,214,175 (GRCm39)		probably benign	Het
Rims4	A	T	2: 163,706,040 (GRCm39)	V198E	probably damaging	Het
Ripk1	T	C	13: 34,193,733 (GRCm39)	S32P	probably damaging	Het
Rnf13	T	A	3: 57,686,872 (GRCm39)	N88K	probably damaging	Het
Rnf13	C	A	3: 57,714,474 (GRCm39)	L178I	probably damaging	Het
Slc17a5	G	T	9: 78,445,584 (GRCm39)		probably null	Het
Sorcs1	A	G	19: 50,624,891 (GRCm39)		probably benign	Het
Spata31e3	T	A	13: 50,401,000 (GRCm39)	Q442L	probably benign	Het
Srpk1	G	A	17: 28,809,218 (GRCm39)		probably benign	Het
Stk10	A	G	11: 32,564,708 (GRCm39)	K840E	probably damaging	Het
Suco	A	G	1: 161,689,882 (GRCm39)		probably benign	Het
T2	G	A	17: 8,636,007 (GRCm39)		probably null	Het
Tbc1d5	A	G	17: 51,226,079 (GRCm39)	S255P	probably damaging	Het
Tenm1	T	C	X: 41,625,058 (GRCm39)	Y2254C	probably damaging	Het
Tex9	T	A	9: 72,385,678 (GRCm39)	K11*	probably null	Het
Tlr4	A	G	4: 66,746,153 (GRCm39)	I29V	probably benign	Het
Tmem255a	A	T	X: 37,288,523 (GRCm39)	V278D	probably damaging	Het
Trpc3	T	C	3: 36,678,566 (GRCm39)	I840V	probably benign	Het
Trpm3	G	A	19: 22,878,435 (GRCm39)	R622Q	possibly damaging	Het
Vmn1r214	T	A	13: 23,219,464 (GRCm39)	Y319*	probably null	Het
Vmn1r53	A	T	6: 90,200,700 (GRCm39)	V208E	probably damaging	Het
Vmn2r89	T	C	14: 51,693,577 (GRCm39)	F309S	probably damaging	Het
Xirp2	T	A	2: 67,340,253 (GRCm39)	F831L	possibly damaging	Het
Yes1	G	T	5: 32,797,749 (GRCm39)	E23*	probably null	Het
Zfp292	A	T	4: 34,810,059 (GRCm39)	M995K	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
IGL02489:Bicd1	APN	6	149,414,535 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GGAAAACAACTCTGTCTTCTTCATTGGC -3'
(R):5'- CCTGAATAAGCTGCTGCTTCAATTTCTG -3'

Sequencing Primer
(F):5'- ATACAGTAAAAACCGTTTCCTCTC -3'
(R):5'- CTCACTGAATAAGTCAGACACAGGG -3'

Posted On

2013-05-23