Mutagenetix > Incidental Mutations

Incidental Mutation 'R4772:Bicdl1'

367599

Institutional Source

Beutler Lab

Gene Symbol

Bicdl1

Ensembl Gene

ENSMUSG00000041609

Gene Name

BICD family like cargo adaptor 1

Synonyms

2210403N09Rik, Ccdc64, BICDR-1

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.640) question?

Stock #

R4772 (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 115661478 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 184 (I184T)

Ref Sequence

ENSEMBL: ENSMUSP00000119664 (fasta)

Gene Model

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

Predicted Effect

probably benign
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

probably benign
Transcript: ENSMUST00000148276
AA Change: I184T

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119664
Gene: ENSMUSG00000041609
AA Change: I184T

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

0.0609

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

95% (74/78)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,315,339		probably null	Het
Adamts19	A	G	18: 58,837,776	Q144R	possibly damaging	Het
Adgrb3	C	A	1: 25,531,875	C507F	probably damaging	Het
Atg9b	T	C	5: 24,385,239	*923W	probably null	Het
Atp13a4	T	C	16: 29,420,835		probably benign	Het
Baz2b	G	T	2: 59,958,451	R697S	probably damaging	Het
Bpifb4	C	T	2: 153,942,983	L204F	possibly damaging	Het
Cep120	C	T	18: 53,718,489	R577Q	probably damaging	Het
Cplx4	T	C	18: 65,969,977	E24G	possibly damaging	Het
D430042O09Rik	A	G	7: 125,865,351	S1297G	probably damaging	Het
Dcxr	T	C	11: 120,726,097	T147A	probably benign	Het
Dnajc10	C	A	2: 80,340,526	H454N	probably damaging	Het
Dsp	G	T	13: 38,167,528	G108*	probably null	Het
Entpd6	T	A	2: 150,767,094	I366K	probably damaging	Het
Fam111a	A	G	19: 12,587,693	K269E	probably benign	Het
Grid2ip	T	G	5: 143,375,700	V222G	possibly damaging	Het
Hmcn2	T	G	2: 31,445,314	V4421G	probably benign	Het
Ifi207	T	C	1: 173,727,687	T817A	probably damaging	Het
Irak2	A	T	6: 113,693,722	E533V	probably damaging	Het
Kbtbd6	T	C	14: 79,452,156	F97S	probably damaging	Het
Kctd14	A	T	7: 97,457,676	E99V	probably damaging	Het
Klhl10	A	T	11: 100,447,731	Y432F	probably benign	Het
Lrrc49	T	C	9: 60,685,052	N53S	possibly damaging	Het
Mief2	T	A	11: 60,730,462		probably benign	Het
Mog	A	T	17: 37,023,157	S15T	unknown	Het
Mpi	T	C	9: 57,544,898	D365G	probably damaging	Het
Mpp7	A	G	18: 7,379,983		probably null	Het
Nes	A	G	3: 87,976,179	T582A	probably benign	Het
Nlrp14	A	G	7: 107,181,186	D5G	probably benign	Het
Nr1i3	C	T	1: 171,217,150	T218I	probably damaging	Het
Nup43	C	T	10: 7,678,669	R339*	probably null	Het
Nupl1	T	A	14: 60,220,022	R577S	probably benign	Het
Olfr1016	G	A	2: 85,799,994	S92F	probably damaging	Het
Olfr1161	T	A	2: 88,024,863	I47K	probably damaging	Het
Olfr503	T	A	7: 108,544,885	M120K	probably damaging	Het
Olfr724	AAATTTGAA	AAA	14: 49,960,995		probably benign	Het
Olfr768	A	T	10: 129,093,668	V102D	possibly damaging	Het
Olfr908	C	T	9: 38,516,601		probably benign	Het
Orc1	T	C	4: 108,579,568		probably benign	Het
Pax6	C	A	2: 105,696,502	P251Q	probably benign	Het
Phactr3	C	T	2: 178,283,936	R330W	probably damaging	Het
Phldb1	G	A	9: 44,711,027	R81W	probably damaging	Het
Pip5k1c	C	T	10: 81,315,940	P656L	probably benign	Het
Pkn3	T	G	2: 30,084,680		probably null	Het
Plcb2	T	A	2: 118,713,134	H752L	probably benign	Het
Plch1	G	A	3: 63,753,325	T291M	probably damaging	Het
Plekhg1	A	T	10: 3,873,127	M32L	probably benign	Het
Plekhg1	A	T	10: 3,873,130	T33S	probably damaging	Het
Plk4	A	G	3: 40,805,190	T174A	probably damaging	Het
Ppip5k2	C	A	1: 97,721,067		probably benign	Het
Prl2a1	G	A	13: 27,804,978	V29M	probably benign	Het
R3hcc1l	T	C	19: 42,583,557		probably benign	Het
Rasa3	C	T	8: 13,598,289	G125D	probably damaging	Het
Sema3f	A	T	9: 107,689,720	Y136*	probably null	Het
Slc13a5	T	A	11: 72,250,846		probably null	Het
Slc16a1	T	C	3: 104,653,564	V395A	possibly damaging	Het
Sparcl1	C	T	5: 104,088,490	A466T	probably benign	Het
Srrm1	G	A	4: 135,342,379		probably benign	Het
Styxl1	G	A	5: 135,768,901	R50*	probably null	Het
Tex264	T	A	9: 106,673,702	I99F	possibly damaging	Het
Tgtp2	T	C	11: 49,058,984	T254A	probably damaging	Het
Tmem245	A	C	4: 56,937,989		probably null	Het
Tnik	A	T	3: 28,607,210	T587S	probably benign	Het
Tpr	T	G	1: 150,413,113	S648A	possibly damaging	Het
Ttn	T	C	2: 76,765,969	E18454G	probably damaging	Het
Utp20	A	C	10: 88,809,935	H527Q	probably benign	Het
Vmn1r1	A	T	1: 182,157,546	S185T	probably benign	Het
Vps54	C	T	11: 21,312,952	H680Y	probably damaging	Het
Vwa5b2	A	G	16: 20,600,803		probably null	Het
Wscd1	T	C	11: 71,771,976		probably null	Het
Zbtb41	C	T	1: 139,447,414	P871S	probably damaging	Het
Zcchc4	T	C	5: 52,796,207	L186P	possibly damaging	Het
Zdhhc13	A	G	7: 48,799,873	Y73C	probably benign	Het
Zfp12	A	G	5: 143,240,000	E21G	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
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'- CTCAACTTTGGGTCCCAGTC -3'
(R):5'- AGATGCCAGTGCTTTTGCCG -3'

Sequencing Primer
(F):5'- TCCCCTCGGCTCACACAG -3'
(R):5'- GTTTGTAGCGCGCGCAG -3'

Posted On

2015-12-29