Mutagenetix > Incidental Mutations

Incidental Mutation 'R6185:Bicdl1'

502096

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

044325-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.640) question?

Stock #

R6185 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115648175-115731621 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 115670153 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119664 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055408] [ENSMUST00000141950] [ENSMUST00000148276]

Predicted Effect

probably null
Transcript: ENSMUST00000055408

SMART Domains

Protein: ENSMUSP00000053547
Gene: ENSMUSG00000041609

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

noncoding transcript
Transcript: ENSMUST00000117847

SMART Domains

Protein: ENSMUSP00000114133
Gene: ENSMUSG00000041609

Domain	Start	End	E-Value	Type
coiled coil region	18	72	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141950

SMART Domains

Protein: ENSMUSP00000119015
Gene: ENSMUSG00000041609

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

probably null
Transcript: ENSMUST00000148276

SMART Domains

Protein: ENSMUSP00000119664
Gene: ENSMUSG00000041609

Domain	Start	End	E-Value	Type
coiled coil region	1	110	N/A	INTRINSIC
low complexity region	120	141	N/A	INTRINSIC
coiled coil region	178	284	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148627

Meta Mutation Damage Score

0.9489

Coding Region Coverage

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

Validation Efficiency

96% (80/83)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,078,089	H894Q	probably benign	Het
Abca4	A	T	3: 122,126,140	I1024F	probably damaging	Het
Acadl	A	G	1: 66,838,363	V343A	possibly damaging	Het
Akr1e1	T	A	13: 4,601,253	I123L	probably benign	Het
Angptl2	T	C	2: 33,229,014	S267P	probably benign	Het
Ap2a1	T	G	7: 44,916,170	K91T	probably damaging	Het
Bend7	A	T	2: 4,788,522	Q379L	probably damaging	Het
Cachd1	C	A	4: 100,981,031	Y830*	probably null	Het
Ccdc158	T	A	5: 92,666,854	I38F	possibly damaging	Het
Cep97	T	A	16: 55,915,092	M448L	probably benign	Het
Chd9	A	G	8: 91,049,137	D2572G	probably damaging	Het
Clcnkb	C	T	4: 141,414,514	V54M	probably benign	Het
Cln8	A	G	8: 14,896,544	D186G	probably benign	Het
Crxos	C	T	7: 15,902,880	S22L	possibly damaging	Het
Cx3cr1	A	T	9: 120,051,378	H319Q	probably benign	Het
Cyp2j6	G	C	4: 96,536,086	L145V	probably damaging	Het
Dmrta1	A	G	4: 89,691,768	R322G	probably damaging	Het
Dpf1	A	G	7: 29,311,271	E103G	possibly damaging	Het
Dsg1b	T	G	18: 20,399,486	V529G	probably benign	Het
Dst	G	A	1: 34,173,080	V1361I	probably damaging	Het
Epha4	T	C	1: 77,507,106	I89V	probably damaging	Het
Etfdh	G	T	3: 79,605,807	H370N	probably benign	Het
Fam186a	A	G	15: 99,947,649	I238T	unknown	Het
Fbxl5	T	A	5: 43,821,552	S19C	probably benign	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Fryl	A	G	5: 73,112,788	V367A	probably benign	Het
Gm19410	T	A	8: 35,807,510	L1495H	possibly damaging	Het
Gm19965	A	G	1: 116,821,273	E228G	possibly damaging	Het
Gpr89	C	A	3: 96,890,833	C169F	probably damaging	Het
Hmcn1	A	T	1: 150,615,438		probably null	Het
Hsph1	A	T	5: 149,617,695	C753S	probably damaging	Het
Igf2	T	A	7: 142,658,381	S4C	possibly damaging	Het
Kansl3	A	T	1: 36,346,018	S486T	probably damaging	Het
Khdrbs1	G	C	4: 129,742,275		probably benign	Het
Lnx1	A	T	5: 74,685,608	C60*	probably null	Het
Lrpprc	T	C	17: 84,767,024	D485G	probably benign	Het
Ly6i	A	T	15: 74,980,030	S97T	possibly damaging	Het
Me2	G	A	18: 73,791,128	Q338*	probably null	Het
Med16	A	T	10: 79,896,363	L790Q	probably damaging	Het
Muc16	G	T	9: 18,654,473	T2250K	unknown	Het
Myo10	T	G	15: 25,726,510	F273C	probably damaging	Het
Neil3	T	A	8: 53,599,147	H472L	probably benign	Het
Nrxn1	T	A	17: 90,037,136	S57C	probably damaging	Het
Nup188	A	T	2: 30,341,710	T1439S	probably damaging	Het
Olfr1128	A	G	2: 87,544,743	M267T	possibly damaging	Het
Olfr1512	T	C	14: 52,372,562	T164A	possibly damaging	Het
Olfr978	T	C	9: 39,994,124	F105L	probably benign	Het
Otud7a	T	A	7: 63,758,385	L812Q	probably damaging	Het
Paip2b	C	T	6: 83,809,970	A95T	probably benign	Het
Pax4	C	T	6: 28,446,348	V49I	probably damaging	Het
Plek	C	T	11: 16,981,829	A341T	probably damaging	Het
Prkag1	G	A	15: 98,825,714	P10L	probably benign	Het
R3hdm1	A	C	1: 128,151,861	D15A	possibly damaging	Het
Rad54b	A	T	4: 11,593,804	D144V	possibly damaging	Het
Rmi2	C	T	16: 10,886,209	T138I	probably benign	Het
Sbf1	A	G	15: 89,305,611	L379P	probably damaging	Het
Sec14l3	A	T	11: 4,075,244	I285F	probably damaging	Het
Sec31b	A	T	19: 44,543,284	I62N	possibly damaging	Het
Selp	A	G	1: 164,126,346	N72D	probably damaging	Het
Sipa1l1	T	A	12: 82,425,028	S1261T	probably damaging	Het
Sipa1l2	A	T	8: 125,468,253	Y915*	probably null	Het
Slc22a27	A	T	19: 7,926,588	D61E	probably benign	Het
Slc2a7	A	G	4: 150,148,993	T8A	probably benign	Het
Slc5a2	T	C	7: 128,271,177	I529T	probably damaging	Het
Spg20	A	C	3: 55,117,219	Q78H	probably damaging	Het
Spocd1	T	C	4: 129,956,449	I756T	probably benign	Het
Stc1	G	A	14: 69,038,364	C202Y	probably damaging	Het
Stk10	A	G	11: 32,577,749	T166A	probably benign	Het
Syt6	A	T	3: 103,585,528	D32V	probably damaging	Het
Tanc1	T	A	2: 59,791,585		probably null	Het
Tanc2	T	A	11: 105,913,039	N297K	probably damaging	Het
Telo2	A	G	17: 25,102,040	S734P	probably benign	Het
Tfrc	T	A	16: 32,618,272	Y250N	probably benign	Het
Tmem97	C	T	11: 78,543,562	W65*	probably null	Het
Ubr3	T	C	2: 69,938,277	M476T	probably damaging	Het
Ubtf	T	C	11: 102,314,023	T117A	probably damaging	Het
Usp17lb	T	A	7: 104,841,424	M99L	probably benign	Het
Uvrag	A	C	7: 99,140,832		probably null	Het
Vmn2r63	A	G	7: 42,929,011	S153P	probably damaging	Het
Vmn2r90	A	T	17: 17,733,382	T603S	probably damaging	Het
Vps8	C	A	16: 21,470,141	L417I	probably damaging	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
R2091:Bicdl1	UTSW	5	115724579	missense	probably damaging	1.00
R4772:Bicdl1	UTSW	5	115661478	missense	probably benign	0.36
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'- ATAGGCGTGCTAGAGTTCCC -3'
(R):5'- TCTTCATATCTGGGGCTAGTCC -3'

Sequencing Primer
(F):5'- TCCCTGGGGAAGTCTAAGAC -3'
(R):5'- TATGCTCAGCCAATTGAACTCTAC -3'

Posted On

2018-02-27