Mutagenetix > Incidental Mutation

Incidental Mutation 'R9513:Bicd1'

718290

Institutional Source

Beutler Lab

Gene Symbol

Bicd1

Ensembl Gene

ENSMUSG00000003452

Gene Name

BICD cargo adaptor 1

Synonyms

B830009D06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9513 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

149310384-149464827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 149414391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 368 (V368E)

Ref Sequence

ENSEMBL: ENSMUSP00000084039 (fasta)

Gene Model

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

AlphaFold

Q8BR07

Predicted Effect

probably damaging
Transcript: ENSMUST00000003544
AA Change: V368E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000003544
Gene: ENSMUSG00000003452
AA Change: V368E

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: V368E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000084039
Gene: ENSMUSG00000003452
AA Change: V368E

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

possibly damaging
Transcript: ENSMUST00000111513
AA Change: V368E

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107138
Gene: ENSMUSG00000003452
AA Change: V368E

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: V368E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133727
Gene: ENSMUSG00000003452
AA Change: V368E

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: 100.0%
10x: 99.8%
20x: 99.3%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Accsl	T	C	2: 93,699,498 (GRCm39)		probably benign	Het
Adgrv1	T	A	13: 81,530,472 (GRCm39)	K5867N	possibly damaging	Het
Adh1	T	A	3: 137,988,571 (GRCm39)	Y181*	probably null	Het
Agbl2	T	C	2: 90,631,458 (GRCm39)	V272A	possibly damaging	Het
Akap13	T	C	7: 75,354,275 (GRCm39)	Y80H	probably benign	Het
Amotl1	A	T	9: 14,526,063 (GRCm39)	S6T	probably benign	Het
Brinp2	G	A	1: 158,074,273 (GRCm39)	T616I	probably damaging	Het
C1rl	T	A	6: 124,485,802 (GRCm39)	V391E	probably damaging	Het
Cacna1e	T	A	1: 154,318,033 (GRCm39)	I1450F	probably damaging	Het
Camk2a	A	G	18: 61,088,607 (GRCm39)		probably null	Het
Ccdc125	A	G	13: 100,826,875 (GRCm39)	E244G	probably benign	Het
Cdh23	C	T	10: 60,166,995 (GRCm39)	A1884T	probably damaging	Het
Clcn1	T	C	6: 42,282,462 (GRCm39)	I510T	probably damaging	Het
Copb1	A	T	7: 113,831,432 (GRCm39)	V572D	probably benign	Het
Ctf1	AGCAAC	A	7: 127,316,180 (GRCm39)		probably null	Het
Dnhd1	T	A	7: 105,354,179 (GRCm39)	L3053Q	probably damaging	Het
Ephb4	T	A	5: 137,361,564 (GRCm39)	H531Q	possibly damaging	Het
Fgl2	T	A	5: 21,580,790 (GRCm39)	C377*	probably null	Het
Frmd4a	T	C	2: 4,608,711 (GRCm39)	F860L	probably damaging	Het
Gbp9	T	C	5: 105,229,091 (GRCm39)	N519D	probably benign	Het
Gm1110	A	G	9: 26,795,083 (GRCm39)	S468P	possibly damaging	Het
Gm4847	A	T	1: 166,462,541 (GRCm39)	D316E	probably damaging	Het
Gnas	T	C	2: 174,185,089 (GRCm39)	Y916H	probably damaging	Het
Hectd1	T	C	12: 51,816,079 (GRCm39)	D1336G	possibly damaging	Het
Herc2	G	T	7: 55,762,848 (GRCm39)	G859V	probably damaging	Het
Hydin	G	A	8: 111,322,114 (GRCm39)	D4589N	probably damaging	Het
Itfg1	A	T	8: 86,490,875 (GRCm39)	N351K	possibly damaging	Het
Kcnd3	G	A	3: 105,572,863 (GRCm39)		probably null	Het
Krt77	A	T	15: 101,769,779 (GRCm39)	Y364N	probably damaging	Het
Lcn4	C	T	2: 26,560,613 (GRCm39)		probably null	Het
Lrrn1	T	A	6: 107,545,505 (GRCm39)	H434Q	probably benign	Het
Lrrtm2	A	G	18: 35,346,687 (GRCm39)	I205T	probably damaging	Het
Mepce	G	C	5: 137,783,759 (GRCm39)	P189R	probably damaging	Het
Mfap1a	T	C	2: 121,330,084 (GRCm39)	K221E	probably benign	Het
Myo7a	A	G	7: 97,746,818 (GRCm39)		probably null	Het
Ncbp3	T	C	11: 72,938,727 (GRCm39)	M1T	probably null	Het
Nck1	A	T	9: 100,379,369 (GRCm39)	M294K	probably benign	Het
Nr2f2	A	T	7: 70,010,056 (GRCm39)	W8R	probably damaging	Het
Or12e10	T	A	2: 87,640,187 (GRCm39)	S8T	possibly damaging	Het
Or1e20-ps1	T	A	11: 73,324,818 (GRCm39)	Q78L	unknown	Het
Or4c12b	A	T	2: 89,647,553 (GRCm39)	R288S	probably damaging	Het
Or6ae1	T	A	7: 139,742,822 (GRCm39)	I14F	possibly damaging	Het
Or7e169	A	G	9: 19,757,816 (GRCm39)	L33P	possibly damaging	Het
Or8g18	T	C	9: 39,149,625 (GRCm39)	T32A	probably benign	Het
Or8j3c	A	T	2: 86,253,707 (GRCm39)	F104L	probably damaging	Het
Pcdha1	A	G	18: 37,065,286 (GRCm39)	K650R	probably benign	Het
Pgm1	T	A	4: 99,841,242 (GRCm39)	I532N	probably damaging	Het
Pik3c2a	T	A	7: 115,939,321 (GRCm39)	K1672N	probably benign	Het
Pou3f1	G	A	4: 124,552,835 (GRCm39)	G446S	probably benign	Het
Ppm1j	T	C	3: 104,693,134 (GRCm39)	I497T	probably damaging	Het
Pprc1	C	T	19: 46,056,500 (GRCm39)	Q1202*	probably null	Het
Pramel30	T	A	4: 144,059,678 (GRCm39)	I463N	possibly damaging	Het
Prdm15	T	C	16: 97,607,704 (GRCm39)	N713S	probably damaging	Het
Ptprb	A	G	10: 116,138,142 (GRCm39)	T62A	probably benign	Het
Rabl2	T	A	15: 89,474,631 (GRCm39)		probably null	Het
Ranbp3l	A	T	15: 9,037,176 (GRCm39)	R149*	probably null	Het
Resf1	T	A	6: 149,229,793 (GRCm39)	Y946*	probably null	Het
Rfx4	T	A	10: 84,674,050 (GRCm39)	M1K	probably null	Het
Ripk4	G	T	16: 97,547,098 (GRCm39)	S388*	probably null	Het
Rnft1	T	G	11: 86,377,065 (GRCm39)	I43R	possibly damaging	Het
Setbp1	A	T	18: 78,899,781 (GRCm39)	F1295L	probably damaging	Het
Sez6	A	G	11: 77,865,409 (GRCm39)	D682G	probably damaging	Het
Slc1a1	T	C	19: 28,812,734 (GRCm39)		probably null	Het
Slc7a5	G	T	8: 122,613,616 (GRCm39)	T312K	probably benign	Het
Slco4c1	A	T	1: 96,799,643 (GRCm39)	N64K	probably benign	Het
Spata13	C	T	14: 60,929,849 (GRCm39)	T469I	probably benign	Het
Stxbp5	T	A	10: 9,687,754 (GRCm39)	N440I	probably benign	Het
Tas2r114	T	A	6: 131,666,746 (GRCm39)	Q94L	probably benign	Het
Tasor	T	A	14: 27,186,271 (GRCm39)	C823*	probably null	Het
Tfr2	A	G	5: 137,575,769 (GRCm39)	D295G	possibly damaging	Het
Thap7	A	G	16: 17,348,152 (GRCm39)	Y60H	probably damaging	Het
Tjap1	G	T	17: 46,569,733 (GRCm39)	P409H	probably damaging	Het
Tmtc4	G	A	14: 123,209,204 (GRCm39)	A147V	probably benign	Het
Tpp2	T	A	1: 44,017,648 (GRCm39)	S751T	probably benign	Het
Tpra1	T	C	6: 88,887,221 (GRCm39)	V193A	probably benign	Het
Trafd1	T	C	5: 121,516,837 (GRCm39)	N122S	possibly damaging	Het
Vmn1r151	T	A	7: 22,199,096 (GRCm39)	D3V	probably benign	Het
Wdr20rt	A	G	12: 65,272,825 (GRCm39)	Y96C	probably damaging	Het
Zfp507	A	G	7: 35,475,573 (GRCm39)	V880A	probably benign	Het
Zfp598	A	G	17: 24,896,568 (GRCm39)	D215G	probably damaging	Het
Zfp7	T	C	15: 76,775,484 (GRCm39)	S509P	probably damaging	Het
Zfp738	A	T	13: 67,817,635 (GRCm39)	C785*	probably null	Het
Zfp985	C	T	4: 147,667,999 (GRCm39)	T289I	probably damaging	Het
Zkscan6	T	A	11: 65,712,795 (GRCm39)	Y243N	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
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

Predicted Primers

PCR Primer
(F):5'- CAGAACTCAAACAAGGAGACATTTG -3'
(R):5'- GTGACGGCCACTCTATATTTGC -3'

Sequencing Primer
(F):5'- GCTGTATACATGTCTGTCCAACTG -3'
(R):5'- TTGCACTCAAGGATCTCTAAGC -3'

Posted On

2022-07-18