Mutagenetix > Incidental Mutations

Incidental Mutation 'R2091:Bicdl1'

231771

Institutional Source

Beutler Lab

Gene Symbol

Bicdl1

Ensembl Gene

ENSMUSG00000041609

Gene Name

BICD family like cargo adaptor 1

Synonyms

2210403N09Rik, Ccdc64, BICDR-1

MMRRC Submission

040096-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.640) question?

Stock #

R2091 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115648175-115731621 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115724579 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 206 (S206P)

Ref Sequence

ENSEMBL: ENSMUSP00000053547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055408] [ENSMUST00000141950]

Predicted Effect

probably damaging
Transcript: ENSMUST00000055408
AA Change: S206P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053547
Gene: ENSMUSG00000041609
AA Change: S206P

Domain	Start	End	E-Value	Type
low complexity region	47	68	N/A	INTRINSIC
Pfam:HAP1_N	97	162	2e-11	PFAM
low complexity region	305	316	N/A	INTRINSIC
low complexity region	336	374	N/A	INTRINSIC
low complexity region	389	410	N/A	INTRINSIC
coiled coil region	467	529	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000141950
AA Change: S142P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119015
Gene: ENSMUSG00000041609
AA Change: S142P

Domain	Start	End	E-Value	Type
Pfam:HAP1_N	35	99	4.5e-11	PFAM
coiled coil region	192	236	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148840

Meta Mutation Damage Score

0.1699

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	G	C	2: 19,517,546	N247K	probably damaging	Het
4930402F06Rik	T	C	2: 35,376,067	K197R	probably benign	Het
4932438A13Rik	C	T	3: 36,988,256	T2797I	probably damaging	Het
AC124724.1	T	A	19: 47,151,991	D221V	probably damaging	Het
Adam9	A	T	8: 24,995,184		probably benign	Het
Adgrl1	T	C	8: 83,934,464	I862T	probably damaging	Het
Agbl1	G	A	7: 76,589,500	V583M	probably damaging	Het
Angpt4	A	T	2: 151,936,783		probably benign	Het
Apba2	T	A	7: 64,695,593	V177D	probably benign	Het
Atg14	A	T	14: 47,542,895	I474N	probably damaging	Het
Ccdc93	T	A	1: 121,483,342		probably null	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dido1	A	T	2: 180,661,884	V1409E	probably benign	Het
Dsc2	G	A	18: 20,033,294	T760I	possibly damaging	Het
Etnk2	T	G	1: 133,377,053		probably null	Het
Gbp7	A	T	3: 142,534,622	I34F	probably damaging	Het
Gbp7	A	T	3: 142,545,555		probably benign	Het
Gpr37	A	G	6: 25,689,063	S12P	possibly damaging	Het
Grxcr1	T	C	5: 68,110,412	I168T	probably damaging	Het
Hat1	T	C	2: 71,434,034	V272A	probably benign	Het
Hook3	A	T	8: 26,059,394		probably benign	Het
Igkv8-30	A	C	6: 70,117,086	C114G	probably damaging	Het
Lrrc4	T	G	6: 28,830,587	D343A	probably benign	Het
Mars	A	G	10: 127,299,285	S646P	probably damaging	Het
Mterf1b	A	T	5: 4,197,057	T233S	possibly damaging	Het
Myrf	A	T	19: 10,224,600	V171D	possibly damaging	Het
Nbas	G	A	12: 13,361,045	D897N	probably benign	Het
Nfx1	T	C	4: 40,977,004	V226A	probably benign	Het
Nrros	C	T	16: 32,144,157	W311*	probably null	Het
Ntrk2	A	G	13: 58,859,301	H239R	possibly damaging	Het
Olfr979	T	C	9: 40,001,204	T8A	probably benign	Het
Pcdhb18	T	C	18: 37,490,600	S328P	probably damaging	Het
Pigm	T	C	1: 172,377,533	Y279H	probably damaging	Het
Pik3cd	A	G	4: 149,652,699	L880P	probably damaging	Het
Pla2g16	A	G	19: 7,579,109	I92V	probably damaging	Het
Polh	A	T	17: 46,181,454		probably benign	Het
Prom1	T	C	5: 44,014,086		probably benign	Het
Ptger4	T	A	15: 5,242,845	I98F	possibly damaging	Het
Rasl11a	T	A	5: 146,847,117	I124N	probably damaging	Het
Rest	A	G	5: 77,281,279	K515R	possibly damaging	Het
Ryr1	A	G	7: 29,086,049	L1746P	probably damaging	Het
Ryr2	G	T	13: 11,945,977	T25K	probably benign	Het
Serpina3g	A	T	12: 104,239,158	D52V	probably damaging	Het
Skint6	T	C	4: 112,846,684	N998S	probably benign	Het
Sntg1	T	A	1: 8,595,539	T184S	probably benign	Het
Ssbp1	A	G	6: 40,476,499	Y73C	probably null	Het
Suclg1	A	G	6: 73,264,276	K193R	probably benign	Het
Tnrc18	A	C	5: 142,773,641	S813R	unknown	Het
Tnrc6a	T	C	7: 123,172,120		probably null	Het
Trap1	A	C	16: 4,046,039	Y472*	probably null	Het
Trpm8	T	C	1: 88,343,326	I446T	probably damaging	Het
Tti2	T	C	8: 31,154,266	L297P	probably damaging	Het
Umodl1	A	G	17: 30,971,919	M247V	probably benign	Het
Unc80	T	A	1: 66,671,715		probably benign	Het
Zfp174	A	G	16: 3,854,642	R352G	possibly damaging	Het
Zfp955a	T	A	17: 33,242,757	K134*	probably null	Het

Other mutations in Bicdl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01434:Bicdl1	APN	5	115670156	nonsense	probably null
IGL01902:Bicdl1	APN	5	115651874	missense	probably damaging	1.00
IGL02416:Bicdl1	APN	5	115663885	missense	probably damaging	1.00
IGL02417:Bicdl1	APN	5	115673158	missense	probably damaging	1.00
IGL03088:Bicdl1	APN	5	115663822	missense	possibly damaging	0.83
IGL03275:Bicdl1	APN	5	115731160	missense	probably damaging	1.00
bargain	UTSW	5	115670153	critical splice donor site	probably null
R6807_Bicdl1_588	UTSW	5	115672143	critical splice donor site	probably null
R0837:Bicdl1	UTSW	5	115731292	missense	probably benign	0.06
R0924:Bicdl1	UTSW	5	115661528	splice site	probably benign
R1581:Bicdl1	UTSW	5	115651267	unclassified	probably benign
R1589:Bicdl1	UTSW	5	115651266	unclassified	probably benign
R1669:Bicdl1	UTSW	5	115656016	missense	possibly damaging	0.84
R2076:Bicdl1	UTSW	5	115655928	missense	probably damaging	0.96
R2089:Bicdl1	UTSW	5	115724579	missense	probably damaging	1.00
R2091:Bicdl1	UTSW	5	115724579	missense	probably damaging	1.00
R4772:Bicdl1	UTSW	5	115661478	missense	probably benign	0.36
R6185:Bicdl1	UTSW	5	115670153	critical splice donor site	probably null
R6807:Bicdl1	UTSW	5	115672143	critical splice donor site	probably null
R7107:Bicdl1	UTSW	5	115670170	missense	probably benign	0.03
R7157:Bicdl1	UTSW	5	115651857	missense	possibly damaging	0.92
R7205:Bicdl1	UTSW	5	115670281	missense	probably damaging	1.00
R7485:Bicdl1	UTSW	5	115663786	nonsense	probably null
R7781:Bicdl1	UTSW	5	115661487	missense	probably damaging	1.00
R8816:Bicdl1	UTSW	5	115724745	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGCATGTAGTTCAACTCCG -3'
(R):5'- CTGTGAATTGGGCAACATGC -3'

Sequencing Primer
(F):5'- GTTCAACTCCGTAATCACTGGGAG -3'
(R):5'- AACATGCCCTGTGTGGCAG -3'

Posted On

2014-09-18