Mutagenetix > Incidental Mutation

Incidental Mutation 'R8338:Bicd1'

644739

Institutional Source

Beutler Lab

Gene Symbol

Bicd1

Ensembl Gene

ENSMUSG00000003452

Gene Name

BICD cargo adaptor 1

Synonyms

B830009D06Rik

MMRRC Submission

067730-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

149310384-149464827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 149414621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 445 (V445I)

Ref Sequence

ENSEMBL: ENSMUSP00000084039 (fasta)

Gene Model

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

AlphaFold

Q8BR07

Predicted Effect

probably benign
Transcript: ENSMUST00000003544
AA Change: V445I

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

SMART Domains

Protein: ENSMUSP00000003544
Gene: ENSMUSG00000003452
AA Change: V445I

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: V445I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000084039
Gene: ENSMUSG00000003452
AA Change: V445I

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: V445I

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000107138
Gene: ENSMUSG00000003452
AA Change: V445I

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 benign
Transcript: ENSMUST00000173408
AA Change: V445I

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000133727
Gene: ENSMUSG00000003452
AA Change: V445I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	T	C	5: 137,290,006 (GRCm39)	L445P	probably damaging	Het
Agrn	G	A	4: 156,253,018 (GRCm39)	T1773I	probably benign	Het
Arap3	A	G	18: 38,106,683 (GRCm39)	S1387P	probably damaging	Het
Bcl11a	G	C	11: 24,114,578 (GRCm39)	K640N	probably damaging	Het
Bltp3a	A	G	17: 28,095,669 (GRCm39)	N26S	probably damaging	Het
C2cd6	A	C	1: 59,099,734 (GRCm39)	N402K	probably benign	Het
Celsr3	C	T	9: 108,704,539 (GRCm39)	Q341*	probably null	Het
Cers1	A	G	8: 70,783,772 (GRCm39)	E240G	possibly damaging	Het
Cfap157	G	T	2: 32,668,018 (GRCm39)	T441N	possibly damaging	Het
Cfap44	G	A	16: 44,239,698 (GRCm39)		probably null	Het
Chd1	A	G	17: 15,990,242 (GRCm39)	Y1598C	probably damaging	Het
Ckap2l	T	G	2: 129,126,939 (GRCm39)	Q413P	probably damaging	Het
Cobl	T	C	11: 12,203,696 (GRCm39)	E1002G	probably benign	Het
Cryge	G	A	1: 65,087,933 (GRCm39)	T156M	unknown	Het
Cubn	A	C	2: 13,435,658 (GRCm39)	F1099L	probably benign	Het
Cyp7b1	T	C	3: 18,151,730 (GRCm39)	E161G	probably benign	Het
Dnah10	A	G	5: 124,909,566 (GRCm39)	E4452G	probably damaging	Het
Dnah2	C	T	11: 69,378,122 (GRCm39)	R1273Q	probably damaging	Het
Dnah3	T	C	7: 119,671,104 (GRCm39)	E593G	probably benign	Het
Dnah9	C	A	11: 65,732,067 (GRCm39)		probably null	Het
Dnajc22	C	A	15: 98,999,022 (GRCm39)	P69Q	probably benign	Het
Fam171a2	T	A	11: 102,329,172 (GRCm39)	D529V	probably benign	Het
Fbxl17	T	C	17: 63,663,753 (GRCm39)	I579V	possibly damaging	Het
Fry	C	T	5: 150,282,516 (GRCm39)	T347M	probably damaging	Het
Gm13272	A	C	4: 88,698,364 (GRCm39)	D93A	probably benign	Het
Grm4	A	T	17: 27,653,977 (GRCm39)	F658I	probably damaging	Het
Hmcn1	G	A	1: 150,614,485 (GRCm39)	T1307I	probably benign	Het
Igkv12-98	G	A	6: 68,548,159 (GRCm39)	S96N	probably benign	Het
Il2ra	A	T	2: 11,687,885 (GRCm39)	T222S	probably benign	Het
Il5ra	G	T	6: 106,689,350 (GRCm39)	T414K	probably benign	Het
Isg15	T	A	4: 156,284,088 (GRCm39)	I147F	probably benign	Het
Kif14	C	A	1: 136,422,416 (GRCm39)	A902E	probably damaging	Het
Lcat	G	A	8: 106,666,719 (GRCm39)	R268C	probably damaging	Het
Lipa	T	C	19: 34,471,477 (GRCm39)	N366S	probably benign	Het
Lrp4	A	G	2: 91,322,713 (GRCm39)	T1101A	probably benign	Het
Man1a	T	A	10: 53,801,643 (GRCm39)		probably null	Het
Mib1	A	G	18: 10,726,372 (GRCm39)	D23G	probably benign	Het
Morc2b	A	T	17: 33,355,387 (GRCm39)	M795K	probably benign	Het
Msantd5f1	T	A	4: 73,605,435 (GRCm39)	M282K	possibly damaging	Het
Mycbp2	T	A	14: 103,372,701 (GRCm39)	E4048D	probably damaging	Het
Myo7b	A	G	18: 32,104,408 (GRCm39)	S1447P	probably damaging	Het
Myt1	A	T	2: 181,443,655 (GRCm39)	T536S	possibly damaging	Het
Nod1	A	T	6: 54,920,956 (GRCm39)	L454Q	probably damaging	Het
Nrf1	T	A	6: 30,140,247 (GRCm39)	W199R		Het
Or10w1	T	A	19: 13,632,216 (GRCm39)	M141K	possibly damaging	Het
Or13a27	T	A	7: 139,925,306 (GRCm39)	M199L	probably benign	Het
Or14c44	T	C	7: 86,061,702 (GRCm39)	I44T	probably benign	Het
Or8k27	A	T	2: 86,275,729 (GRCm39)	M199K	probably benign	Het
Or9a4	T	C	6: 40,548,910 (GRCm39)	F197L	probably benign	Het
Ostn	G	T	16: 27,143,285 (GRCm39)	A38S	probably benign	Het
Paxbp1	A	T	16: 90,833,435 (GRCm39)	D266E	probably damaging	Het
Pcdhb14	G	T	18: 37,582,175 (GRCm39)	G427V	probably damaging	Het
Pdzrn3	A	T	6: 101,127,783 (GRCm39)	M961K	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Prdx5	T	C	19: 6,884,632 (GRCm39)	D148G	probably damaging	Het
Ptprj	A	T	2: 90,301,481 (GRCm39)	I217N	possibly damaging	Het
Rccd1	A	T	7: 79,970,618 (GRCm39)	L54Q	possibly damaging	Het
Rfx6	T	A	10: 51,594,190 (GRCm39)	V370E	probably damaging	Het
Sdr16c6	C	T	4: 4,076,620 (GRCm39)	C93Y	probably damaging	Het
Shroom1	A	G	11: 53,354,107 (GRCm39)	D9G	probably benign	Het
Snrpe	A	G	1: 133,536,681 (GRCm39)	V33A	probably benign	Het
Spats2	T	A	15: 99,076,340 (GRCm39)	D139E	probably damaging	Het
Spopfm1	A	G	3: 94,173,285 (GRCm39)	I94V	possibly damaging	Het
St18	A	G	1: 6,879,516 (GRCm39)	E405G	probably damaging	Het
Strap	A	T	6: 137,718,976 (GRCm39)	E176V	possibly damaging	Het
Stxbp5l	G	T	16: 36,994,718 (GRCm39)	T729K	probably damaging	Het
Synj2bp	G	A	12: 81,551,326 (GRCm39)	Q97*	probably null	Het
Tbc1d32	T	A	10: 55,904,173 (GRCm39)	Q1198L	possibly damaging	Het
Tmem98	T	C	11: 80,712,135 (GRCm39)	S191P	probably benign	Het
Tnn	C	T	1: 159,946,053 (GRCm39)	G922R	probably damaging	Het
Treh	A	G	9: 44,595,808 (GRCm39)	N366S	probably benign	Het
Ttn	T	G	2: 76,750,136 (GRCm39)	S3638R	probably benign	Het
Uggt1	A	G	1: 36,266,602 (GRCm39)	L124P	probably damaging	Het
V1rd19	A	T	7: 23,702,674 (GRCm39)	K47*	probably null	Het
Wdhd1	T	C	14: 47,506,120 (GRCm39)	M265V	probably benign	Het
Wsb1	T	C	11: 79,137,103 (GRCm39)	D168G	probably damaging	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
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
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'- CATGTCAATGCTATGAGGGGC -3'
(R):5'- CTCATCCTGGGCTGTATTGAG -3'

Sequencing Primer
(F):5'- TGCTATGAGGGGCTTGCAAAAC -3'
(R):5'- CTGTATTGAGGGTGTTGTGATTTTC -3'

Posted On

2020-09-02