Mutagenetix > Incidental Mutation

Incidental Mutation 'R6759:Bicdl2'

531165

Institutional Source

Beutler Lab

Gene Symbol

Bicdl2

Ensembl Gene

ENSMUSG00000043782

Gene Name

BICD family like cargo adaptor 2

Synonyms

Ccdc64b

MMRRC Submission

044875-MU

Accession Numbers

Essential gene?

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

Stock #

R6759 (G1)

Quality Score

105.008

Status

Validated

Chromosome

Chromosomal Location

23879480-23887595 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 23885718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000053808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047436] [ENSMUST00000062967] [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 null
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 null
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: 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

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,331,692 (GRCm39)	S841G	probably benign	Het
4933427I04Rik	G	T	4: 123,753,879 (GRCm39)		probably benign	Het
Aak1	A	G	6: 86,921,399 (GRCm39)	T199A	probably damaging	Het
Acnat2	C	A	4: 49,380,254 (GRCm39)	V375L	probably benign	Het
Aldh1a7	T	C	19: 20,677,320 (GRCm39)	T434A	possibly damaging	Het
Aldh3a2	T	C	11: 61,156,088 (GRCm39)	T63A	probably benign	Het
Anxa2	T	C	9: 69,391,103 (GRCm39)	S97P	probably damaging	Het
Apip	T	C	2: 102,922,191 (GRCm39)	S186P	probably benign	Het
Apob	A	G	12: 8,061,049 (GRCm39)	K3177R	probably benign	Het
Atm	C	T	9: 53,429,859 (GRCm39)	W392*	probably null	Het
Atp8b1	T	A	18: 64,679,161 (GRCm39)	R773S	probably benign	Het
Bltp1	C	T	3: 37,042,234 (GRCm39)	T2740I	possibly damaging	Het
Cacng3	G	A	7: 122,361,547 (GRCm39)		probably null	Het
Clca3a1	G	T	3: 144,455,450 (GRCm39)	L448M	probably damaging	Het
Clk4	A	G	11: 51,166,401 (GRCm39)	I94M	possibly damaging	Het
Cnot3	G	T	7: 3,654,918 (GRCm39)	V124F	probably damaging	Het
Cyp4a30b	C	T	4: 115,318,571 (GRCm39)	A426V	probably benign	Het
Dact1	T	A	12: 71,364,911 (GRCm39)	L564*	probably null	Het
Dnah8	T	A	17: 30,882,266 (GRCm39)		probably null	Het
Dock5	T	A	14: 68,033,445 (GRCm39)	T975S	probably benign	Het
Dock8	C	A	19: 25,104,848 (GRCm39)	H739Q	probably damaging	Het
Efr3b	T	A	12: 4,034,613 (GRCm39)	N186Y	probably damaging	Het
Enam	G	A	5: 88,649,550 (GRCm39)	G278D	probably damaging	Het
Fgl2	A	G	5: 21,578,256 (GRCm39)	D181G	probably benign	Het
Gfra3	G	T	18: 34,828,926 (GRCm39)	S156*	probably null	Het
Jam3	G	C	9: 27,013,276 (GRCm39)	T98S	probably benign	Het
Ltbp2	A	T	12: 84,834,184 (GRCm39)	I1435N	probably damaging	Het
Man2a1	G	A	17: 64,932,383 (GRCm39)	A157T	probably benign	Het
Mcm3ap	T	A	10: 76,337,148 (GRCm39)	V1361E	probably benign	Het
Nobox	A	T	6: 43,284,538 (GRCm39)	L36Q	possibly damaging	Het
Or2ag12	T	A	7: 106,277,100 (GRCm39)	M198L	probably benign	Het
Or51a10	A	G	7: 103,699,334 (GRCm39)	S76P	probably damaging	Het
Parp4	G	A	14: 56,857,947 (GRCm39)	V860I	probably benign	Het
Pim3	T	A	15: 88,747,296 (GRCm39)		probably null	Het
Ptpn13	A	T	5: 103,713,121 (GRCm39)	N1748I	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,145 (GRCm39)	T356A	possibly damaging	Het
Ranbp2	C	T	10: 58,293,559 (GRCm39)	R310*	probably null	Het
Rassf5	C	T	1: 131,109,988 (GRCm39)	V190I	probably benign	Het
Rgl1	T	G	1: 152,409,281 (GRCm39)	Q481P	probably damaging	Het
Rrp1b	A	G	17: 32,276,063 (GRCm39)	T537A	probably benign	Het
Smok3c	T	A	5: 138,063,699 (GRCm39)	S395R	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Strn4	A	T	7: 16,556,978 (GRCm39)	E145V	probably damaging	Het
Tex21	T	A	12: 76,251,086 (GRCm39)		probably null	Het
Usp37	G	A	1: 74,534,908 (GRCm39)	R13*	probably null	Het
Uty	G	T	Y: 1,174,735 (GRCm39)	L222I	probably damaging	Homo
Wwp2	A	G	8: 108,267,314 (GRCm39)	T309A	probably damaging	Het
Zfp40	C	T	17: 23,395,510 (GRCm39)	R359H	possibly damaging	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
R1351:Bicdl2	UTSW	17	23,886,519 (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
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'- ACCTGATGAAGCCAGACCTG -3'
(R):5'- CTTGGTCTTGGTCACTGTCAAG -3'

Sequencing Primer
(F):5'- AGGCACGCCCTGCTTTATAG -3'
(R):5'- TCACTGTCAAGGCTGTGGGC -3'

Posted On

2018-08-01