Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03088:Bicdl1'

418242

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: 0.514) question?

Stock #

IGL03088

Quality Score

Status

Chromosome

Chromosomal Location

115648175-115731621 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115663822 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 59 (V59A)

Ref Sequence

ENSEMBL: ENSMUSP00000119664 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055408
AA Change: V328A

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000053547
Gene: ENSMUSG00000041609
AA Change: V328A

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

possibly damaging
Transcript: ENSMUST00000148276
AA Change: V59A

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119664
Gene: ENSMUSG00000041609
AA Change: V59A

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	G	11: 58,293,384	L299R	unknown	Het
5330417C22Rik	A	G	3: 108,536,358	W31R	probably damaging	Het
8030411F24Rik	A	T	2: 148,783,407	H87L	possibly damaging	Het
Abca9	T	G	11: 110,144,261	R693S	probably benign	Het
Adamts20	A	T	15: 94,329,914		probably null	Het
Afg1l	T	A	10: 42,426,497	D169V	probably damaging	Het
Agbl1	T	A	7: 76,720,142	M663K	probably benign	Het
Angpt2	T	A	8: 18,741,023	I86F	probably benign	Het
Ankrd2	G	A	19: 42,041,985	E160K	probably null	Het
As3mt	G	T	19: 46,707,794	V14F	probably damaging	Het
Atp6v0a2	T	C	5: 124,714,107		probably benign	Het
Atp6v0d1	T	A	8: 105,530,959	I113F	probably damaging	Het
Bank1	A	G	3: 136,093,362	I406T	probably damaging	Het
BC053393	C	A	11: 46,584,417	F146L	probably benign	Het
Brsk1	A	G	7: 4,710,454		probably benign	Het
Cdh17	T	A	4: 11,810,473	N721K	probably damaging	Het
Cercam	A	G	2: 29,881,687		probably benign	Het
Clpb	T	A	7: 101,785,449	L484*	probably null	Het
Creb3l1	T	A	2: 91,995,394	M127L	probably benign	Het
Ctla2b	A	C	13: 60,896,060	D122E	probably damaging	Het
Cyb5rl	C	A	4: 107,081,028	Y12*	probably null	Het
Dennd5a	T	C	7: 109,908,381	Y800C	probably damaging	Het
Dmrt3	T	G	19: 25,623,047	S419A	probably benign	Het
Fbxo38	A	G	18: 62,522,472	V381A	possibly damaging	Het
Flg2	A	T	3: 93,203,191	H842L	unknown	Het
Fn1	A	T	1: 71,614,038		probably null	Het
Fos	A	C	12: 85,475,856	T181P	possibly damaging	Het
Fzd10	A	G	5: 128,602,605	Y463C	possibly damaging	Het
Gprc5b	T	C	7: 118,983,633	M338V	probably benign	Het
Gsta4	T	C	9: 78,206,063		probably benign	Het
Gstm2	T	A	3: 107,986,046	T34S	probably benign	Het
Haspin	C	T	11: 73,136,625	R546Q	probably damaging	Het
Itgad	G	A	7: 128,203,032	R958H	probably benign	Het
Kansl1l	A	T	1: 66,735,725	H647Q	probably damaging	Het
Kif5c	A	C	2: 49,744,443	R762S	probably benign	Het
Klf4	A	G	4: 55,530,811	L50P	probably damaging	Het
Klf4	C	A	4: 55,530,758	A68S	possibly damaging	Het
Kmt2c	T	C	5: 25,299,804	E3502G	probably damaging	Het
Krt8	A	G	15: 102,000,587	I202T	possibly damaging	Het
Lmcd1	A	T	6: 112,310,688	T112S	probably damaging	Het
Lpxn	T	C	19: 12,833,211	C340R	probably damaging	Het
Man2a2	C	T	7: 80,359,334	V844M	possibly damaging	Het
Map10	G	A	8: 125,671,070	E401K	probably benign	Het
Mark4	A	T	7: 19,451,584	L75Q	probably damaging	Het
Mlf2	T	G	6: 124,933,982	M81R	probably damaging	Het
Mup3	A	G	4: 62,086,842	I67T	probably damaging	Het
Mycbpap	T	C	11: 94,513,943		probably null	Het
Myt1l	T	C	12: 29,920,477	V1185A	probably benign	Het
Ncoa7	C	T	10: 30,698,125		probably null	Het
Nos1	C	A	5: 117,867,258	N14K	probably damaging	Het
Nova2	G	T	7: 18,950,569	V116F	unknown	Het
Obox3	G	A	7: 15,627,002		probably benign	Het
Olfr110	A	G	17: 37,498,648		probably benign	Het
Olfr239	A	T	17: 33,199,560	T171S	probably benign	Het
Olfr325	T	A	11: 58,581,827		probably benign	Het
Olfr914	A	T	9: 38,607,301	S279C	probably damaging	Het
P2rx5	T	A	11: 73,165,620		probably benign	Het
Parvb	T	A	15: 84,308,843		probably benign	Het
Popdc2	A	T	16: 38,373,822	T202S	probably damaging	Het
Ppm1j	T	A	3: 104,785,409	Y411*	probably null	Het
Rapgefl1	C	A	11: 98,849,232	L484M	probably damaging	Het
Sept14	A	G	5: 129,697,733		probably benign	Het
Slf1	A	G	13: 77,084,435	C517R	probably damaging	Het
Smyd3	A	G	1: 179,094,333		probably null	Het
Snx9	A	G	17: 5,924,610	T458A	probably benign	Het
Srgap1	T	C	10: 121,825,693	D514G	possibly damaging	Het
Tbc1d14	A	G	5: 36,524,964	S311P	probably damaging	Het
Tmem150c	T	G	5: 100,086,217	K91N	probably damaging	Het
Traf3	T	A	12: 111,261,843	M471K	probably damaging	Het
Tubd1	G	T	11: 86,552,999	G178C	probably damaging	Het
Vav2	T	C	2: 27,267,250	K847E	possibly damaging	Het
Vmn2r100	A	T	17: 19,522,039	H225L	probably benign	Het
Wrn	A	T	8: 33,268,823		probably benign	Het
Xpo7	T	G	14: 70,681,262	S710R	probably benign	Het
Zfp780b	C	T	7: 27,962,992	V713I	possibly damaging	Het
Zkscan17	A	T	11: 59,487,766	I197N	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
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

Posted On

2016-08-02