Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01434:Bicdl1'

84285

Institutional Source

Australian Phenomics Network (link to record)

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: 0.605) question?

Stock #

IGL01434

Quality Score

Status

Chromosome

Chromosomal Location

115648175-115731621 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 115670156 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 37 (Q37*)

Ref Sequence

ENSEMBL: ENSMUSP00000119664 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000055408
AA Change: Q306*

SMART Domains

Protein: ENSMUSP00000053547
Gene: ENSMUSG00000041609
AA Change: Q306*

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
AA Change: Q37*

SMART Domains

Protein: ENSMUSP00000119664
Gene: ENSMUSG00000041609
AA Change: Q37*

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	A	G	7: 119,781,074		probably benign	Het
Adcy7	A	G	8: 88,324,844	N864S	probably damaging	Het
Anapc7	A	G	5: 122,438,216	D302G	probably benign	Het
Atm	A	T	9: 53,507,807	C782S	probably benign	Het
Cabin1	T	C	10: 75,725,586	D1027G	possibly damaging	Het
Cbl	T	C	9: 44,164,206	I364V	probably damaging	Het
Ccer1	T	C	10: 97,693,597	S41P	unknown	Het
Cenpf	G	A	1: 189,657,868	Q1256*	probably null	Het
Copa	T	A	1: 172,119,561	I1093N	probably benign	Het
Cped1	C	T	6: 22,017,005	L118F	probably damaging	Het
Dner	T	C	1: 84,384,010	H626R	probably benign	Het
Ears2	G	A	7: 122,063,088		probably benign	Het
Eif3c	A	G	7: 126,556,410	I562T	probably damaging	Het
Eml6	T	C	11: 29,819,090	Y685C	probably damaging	Het
Fam71f1	T	C	6: 29,320,701	V108A	probably damaging	Het
Gm5483	T	A	16: 36,186,407	V37E	probably benign	Het
Gpt	A	G	15: 76,698,782	K321E	probably damaging	Het
Hspd1	C	T	1: 55,081,126	G306R	probably damaging	Het
Kmt2c	T	C	5: 25,409,308	Y138C	probably damaging	Het
Lhcgr	A	G	17: 88,742,437	Y554H	probably damaging	Het
Nell1	A	T	7: 50,701,208	K534N	probably benign	Het
Nob1	A	G	8: 107,424,728		probably benign	Het
Olfr45	G	A	7: 140,691,618	A238T	probably damaging	Het
Phf12	C	T	11: 78,023,559	P60L	probably damaging	Het
Prkdc	A	G	16: 15,713,587	E1358G	probably benign	Het
Rimbp3	A	G	16: 17,211,702	T997A	probably benign	Het
Rsg1	T	C	4: 141,218,653	V169A	probably benign	Het
Slc9a9	T	A	9: 95,019,194	N393K	possibly damaging	Het
Sohlh2	T	C	3: 55,195,161	S206P	probably damaging	Het
Stard10	G	A	7: 101,321,980	V125M	probably benign	Het
Tff2	G	T	17: 31,143,266		probably null	Het
Tha1	T	C	11: 117,868,599	T355A	probably benign	Het
Tmem120a	G	T	5: 135,737,010	F127L	possibly damaging	Het
Tmem41b	A	G	7: 109,978,702		probably benign	Het
Tonsl	T	C	15: 76,631,102	D1028G	probably benign	Het

Other mutations in Bicdl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-11-11