Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02416:Bicdl1'

292452

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

Essential gene?

Possibly non essential (E-score: 0.323) question?

Stock #

IGL02416

Quality Score

Status

Chromosome

Chromosomal Location

115648175-115731621 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 115663885 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 38 (L38R)

Ref Sequence

ENSEMBL: ENSMUSP00000119664 (fasta)

Gene Model

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

AlphaFold

A0JNT9

Predicted Effect

probably damaging
Transcript: ENSMUST00000055408
AA Change: L307R

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

SMART Domains

Protein: ENSMUSP00000053547
Gene: ENSMUSG00000041609
AA Change: L307R

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 damaging
Transcript: ENSMUST00000148276
AA Change: L38R

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

SMART Domains

Protein: ENSMUSP00000119664
Gene: ENSMUSG00000041609
AA Change: L38R

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	T	C	14: 68,572,833	N227S	probably null	Het
Adgrf5	T	G	17: 43,444,980		probably null	Het
Arid2	G	A	15: 96,350,055	G116D	possibly damaging	Het
Arsa	T	A	15: 89,474,788	H225L	probably damaging	Het
Atf6	T	A	1: 170,747,157	K571*	probably null	Het
Cct4	T	C	11: 23,002,868	S515P	probably damaging	Het
Celsr3	A	C	9: 108,832,119	D1388A	probably damaging	Het
Clca2	T	C	3: 145,085,016	T432A	probably benign	Het
Des	T	A	1: 75,362,728		probably null	Het
Dock11	T	A	X: 36,020,086	V1119E	probably damaging	Het
Dysf	A	G	6: 84,192,914	N1763S	possibly damaging	Het
Emilin1	A	G	5: 30,917,788	S458G	possibly damaging	Het
Fhdc1	T	G	3: 84,445,228	M897L	probably benign	Het
Foxj1	T	C	11: 116,332,003	S325G	probably benign	Het
Gm5407	A	G	16: 49,296,887		noncoding transcript	Het
Gm6576	T	C	15: 27,025,987		noncoding transcript	Het
Hells	G	A	19: 38,964,627	S743N	probably benign	Het
Ighv2-9-1	A	T	12: 113,770,111	L30Q	probably damaging	Het
Iqgap1	A	T	7: 80,726,038	L1363H	probably damaging	Het
Lrp2	T	C	2: 69,469,633	D3025G	probably damaging	Het
Mef2d	C	T	3: 88,156,502	R79C	probably damaging	Het
Mical1	G	T	10: 41,484,810		probably null	Het
Micu2	A	T	14: 57,923,965	V300E	probably damaging	Het
Mmgt2	T	C	11: 62,664,877	L17P	probably damaging	Het
Olfr1182	A	G	2: 88,446,830	I36T	probably benign	Het
Olfr371	T	A	8: 85,231,033	C179*	probably null	Het
Olfr873	A	T	9: 20,300,245	E15V	probably benign	Het
Pigb	A	G	9: 73,017,432	S482P	probably benign	Het
Pkd1l2	T	A	8: 117,040,835	T1239S	possibly damaging	Het
Pou1f1	T	C	16: 65,531,956	I187T	probably damaging	Het
Prox1	C	T	1: 190,161,130	A373T	probably benign	Het
Rabgap1	T	C	2: 37,561,950	I954T	probably benign	Het
Scube3	T	G	17: 28,164,136	C429W	probably damaging	Het
Slco6b1	T	A	1: 96,924,333		noncoding transcript	Het
Strc	A	T	2: 121,369,058	I1300N	probably damaging	Het
Tdrd6	T	A	17: 43,624,738	R1806S	probably benign	Het
Trpm8	T	A	1: 88,360,716	L860Q	probably damaging	Het
Vmn1r8	A	G	6: 57,036,620	R219G	probably damaging	Het
Wdr48	A	G	9: 119,924,760	S649G	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
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
R8236:Bicdl1	UTSW	5	115649559	missense	probably benign	0.28
R8816:Bicdl1	UTSW	5	115724745	missense	probably damaging	1.00
R9320:Bicdl1	UTSW	5	115724710	missense	probably damaging	0.96
R9527:Bicdl1	UTSW	5	115673129	missense	possibly damaging	0.96

Posted On

2015-04-16