Mutagenetix > Incidental Mutation

Incidental Mutation 'R1351:Bicdl2'

156671

Institutional Source

Beutler Lab

Gene Symbol

Bicdl2

Ensembl Gene

ENSMUSG00000043782

Gene Name

BICD family like cargo adaptor 2

Synonyms

Ccdc64b

MMRRC Submission

039416-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R1351 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23879480-23887595 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 23886519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123075 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047436] [ENSMUST00000062967] [ENSMUST00000095579] [ENSMUST00000115489] [ENSMUST00000115490] [ENSMUST00000138190]

AlphaFold

Q8CHW5

Predicted Effect

probably benign
Transcript: ENSMUST00000047436

SMART Domains

Protein: ENSMUSP00000038137
Gene: ENSMUSG00000041319

Domain	Start	End	E-Value	Type
Blast:WD40	13	51	2e-18	BLAST
WD40	65	101	2.67e-1	SMART
Blast:WD40	119	154	1e-11	BLAST
WD40	157	196	1.28e-6	SMART
Blast:WD40	200	245	2e-25	BLAST
WD40	248	284	7.36e1	SMART
low complexity region	294	305	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000062967

SMART Domains

Protein: ENSMUSP00000053808
Gene: ENSMUSG00000043782

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
coiled coil region	63	293	N/A	INTRINSIC
low complexity region	304	312	N/A	INTRINSIC
coiled coil region	354	461	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000095579

SMART Domains

Protein: ENSMUSP00000093239
Gene: ENSMUSG00000041319

Domain	Start	End	E-Value	Type
Blast:WD40	13	51	2e-18	BLAST
WD40	65	101	2.67e-1	SMART
Blast:WD40	119	154	1e-11	BLAST
WD40	157	196	1.28e-6	SMART
Blast:WD40	200	245	2e-25	BLAST
WD40	248	284	7.36e1	SMART
low complexity region	294	305	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115489

SMART Domains

Protein: ENSMUSP00000111152
Gene: ENSMUSG00000041319

Domain	Start	End	E-Value	Type
Blast:WD40	11	47	6e-18	BLAST
WD40	61	97	2.67e-1	SMART
Blast:WD40	115	150	8e-12	BLAST
WD40	153	192	1.28e-6	SMART
Blast:WD40	196	241	3e-25	BLAST
WD40	244	280	7.36e1	SMART
low complexity region	290	301	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115490

SMART Domains

Protein: ENSMUSP00000111153
Gene: ENSMUSG00000041319

Domain	Start	End	E-Value	Type
Blast:WD40	13	51	7e-19	BLAST
WD40	65	101	2.67e-1	SMART
Blast:WD40	119	154	6e-12	BLAST
WD40	157	196	1.28e-6	SMART
Blast:WD40	200	245	8e-26	BLAST
Blast:WD40	248	279	4e-10	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125443

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133849

Predicted Effect

probably benign
Transcript: ENSMUST00000135259

SMART Domains

Protein: ENSMUSP00000119920
Gene: ENSMUSG00000041319

Domain	Start	End	E-Value	Type
Blast:WD40	32	67	9e-13	BLAST
WD40	70	109	1.28e-6	SMART
Blast:WD40	113	186	4e-20	BLAST
Blast:WD40	189	209	2e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000138190

SMART Domains

Protein: ENSMUSP00000123075
Gene: ENSMUSG00000041319

Domain	Start	End	E-Value	Type
Blast:WD40	13	51	6e-20	BLAST
WD40	65	101	2.67e-1	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef26	A	G	3: 62,288,262 (GRCm39)	E444G	probably damaging	Het
Astl	G	A	2: 127,189,105 (GRCm39)	V144M	possibly damaging	Het
AW146154	A	T	7: 41,129,878 (GRCm39)	C413S	probably damaging	Het
Cacna1h	G	T	17: 25,610,925 (GRCm39)	S624R	probably benign	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cep126	C	T	9: 8,100,087 (GRCm39)	E816K	probably damaging	Het
Cyp2j13	T	C	4: 95,945,155 (GRCm39)	K291R	probably benign	Het
Defb26	A	T	2: 152,349,737 (GRCm39)	M181K	unknown	Het
Dicer1	G	A	12: 104,695,401 (GRCm39)	R177C	probably damaging	Het
Eif4g2	A	G	7: 110,673,287 (GRCm39)	Y831H	probably damaging	Het
Ermap	C	T	4: 119,038,558 (GRCm39)		probably null	Het
Fcamr	C	T	1: 130,740,757 (GRCm39)	T392I	possibly damaging	Het
Fgf3	T	C	7: 144,394,517 (GRCm39)		probably benign	Het
Gpr162	T	C	6: 124,838,161 (GRCm39)	Y163C	probably damaging	Het
Gprc5d	T	C	6: 135,093,230 (GRCm39)	R226G	possibly damaging	Het
Hapln3	A	C	7: 78,771,708 (GRCm39)	S60R	probably damaging	Het
Hif1a	T	C	12: 73,987,235 (GRCm39)	S443P	probably benign	Het
Irf2bpl	A	G	12: 86,929,398 (GRCm39)	M425T	probably benign	Het
Lrrc39	G	T	3: 116,359,469 (GRCm39)	A5S	possibly damaging	Het
Mbtps1	A	G	8: 120,244,901 (GRCm39)	L850S	possibly damaging	Het
Mios	T	A	6: 8,228,120 (GRCm39)	M679K	possibly damaging	Het
Mocos	T	C	18: 24,793,107 (GRCm39)	F68S	probably damaging	Het
Nuf2	T	C	1: 169,338,118 (GRCm39)		probably benign	Het
Or51k1	A	G	7: 103,661,523 (GRCm39)	Y129H	possibly damaging	Het
Orc1	T	A	4: 108,452,564 (GRCm39)	D146E	probably benign	Het
Pcdhb22	T	C	18: 37,651,627 (GRCm39)	F32L	probably benign	Het
Pde4d	G	T	13: 110,087,809 (GRCm39)	E562D	possibly damaging	Het
Pgk2	T	C	17: 40,518,691 (GRCm39)	K246E	probably damaging	Het
Plekhh2	A	T	17: 84,884,574 (GRCm39)		probably benign	Het
Pou3f2	A	T	4: 22,487,162 (GRCm39)	C324S	probably damaging	Het
Prkdc	C	T	16: 15,485,564 (GRCm39)	L464F	possibly damaging	Het
Prrc2a	T	C	17: 35,376,863 (GRCm39)	H749R	possibly damaging	Het
Rad18	T	C	6: 112,597,863 (GRCm39)	N218S	possibly damaging	Het
Rbm11	T	C	16: 75,393,531 (GRCm39)	Y76H	possibly damaging	Het
Rif1	T	G	2: 52,001,567 (GRCm39)	Y1674D	possibly damaging	Het
Rrp1b	A	G	17: 32,275,611 (GRCm39)	H386R	possibly damaging	Het
Sacs	T	C	14: 61,440,210 (GRCm39)	V752A	probably benign	Het
Sema3c	A	G	5: 17,883,334 (GRCm39)	D314G	possibly damaging	Het
Spata2l	G	A	8: 123,960,072 (GRCm39)	R406C	probably damaging	Het
Tacc2	C	T	7: 130,264,733 (GRCm39)		probably benign	Het
Tent4b	C	A	8: 88,927,002 (GRCm39)	Y137*	probably null	Het
Trpc4	A	G	3: 54,102,423 (GRCm39)	E107G	probably damaging	Het
Vmn2r70	A	G	7: 85,214,262 (GRCm39)	S297P	probably damaging	Het
Xdh	A	G	17: 74,230,073 (GRCm39)	I286T	probably benign	Het
Zfp608	T	C	18: 55,031,463 (GRCm39)	T826A	probably benign	Het
Zfp646	T	A	7: 127,482,683 (GRCm39)	V1620E	probably benign	Het
Zfyve28	T	G	5: 34,389,549 (GRCm39)	D217A	probably damaging	Het
Zmym6	G	A	4: 127,016,798 (GRCm39)	G768R	probably benign	Het

Other mutations in Bicdl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01083:Bicdl2	APN	17	23,887,105 (GRCm39)	missense	probably damaging	1.00
IGL03283:Bicdl2	APN	17	23,886,155 (GRCm39)	missense	probably damaging	1.00
R1013:Bicdl2	UTSW	17	23,884,377 (GRCm39)	unclassified	probably benign
R1512:Bicdl2	UTSW	17	23,887,083 (GRCm39)	missense	probably damaging	0.96
R1768:Bicdl2	UTSW	17	23,884,923 (GRCm39)	missense	probably damaging	1.00
R2886:Bicdl2	UTSW	17	23,885,732 (GRCm39)	splice site	probably null
R4154:Bicdl2	UTSW	17	23,885,066 (GRCm39)	splice site	probably null
R4440:Bicdl2	UTSW	17	23,886,590 (GRCm39)	missense	probably benign	0.17
R5133:Bicdl2	UTSW	17	23,880,795 (GRCm39)	missense	unknown
R5358:Bicdl2	UTSW	17	23,886,538 (GRCm39)	missense	probably benign	0.00
R6759:Bicdl2	UTSW	17	23,885,718 (GRCm39)	splice site	probably null
R7855:Bicdl2	UTSW	17	23,884,991 (GRCm39)	nonsense	probably null
R8557:Bicdl2	UTSW	17	23,886,536 (GRCm39)	missense	probably benign	0.02
R8871:Bicdl2	UTSW	17	23,885,777 (GRCm39)	missense	probably damaging	1.00
R9036:Bicdl2	UTSW	17	23,887,158 (GRCm39)	missense	probably damaging	1.00
R9609:Bicdl2	UTSW	17	23,884,513 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TGAGACTCAAGAGACATCCAGTCCC -3'
(R):5'- AGAATGCCAGGCTCACTTGTTCAC -3'

Sequencing Primer
(F):5'- GAACTTGTAGTCTACCTGAGCTAGTC -3'
(R):5'- CTGCTTCGTCCCGGTCAG -3'

Posted On

2014-02-11