Mutagenetix > Incidental Mutation

Incidental Mutation 'R8816:Bicdl1'

672728

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

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.560) question?

Stock #

R8816 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115648175-115731621 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115724745 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 150 (Q150H)

Ref Sequence

ENSEMBL: ENSMUSP00000053547 (fasta)

Gene Model

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

AlphaFold

A0JNT9

Predicted Effect

probably damaging
Transcript: ENSMUST00000055408
AA Change: Q150H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000053547
Gene: ENSMUSG00000041609
AA Change: Q150H

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 damaging
Transcript: ENSMUST00000141950
AA Change: Q86H

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

SMART Domains

Protein: ENSMUSP00000119015
Gene: ENSMUSG00000041609
AA Change: Q86H

Domain	Start	End	E-Value	Type
Pfam:HAP1_N	35	99	4.5e-11	PFAM
coiled coil region	192	236	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,236,687	H348L	probably benign	Het
Alpk1	A	T	3: 127,684,375	Y74*	probably null	Het
Ass1	T	C	2: 31,493,177		probably benign	Het
Atp8b4	C	T	2: 126,372,164		probably benign	Het
Atrn	C	A	2: 130,906,878	N106K	probably damaging	Het
Atrn	T	C	2: 131,004,574	V1256A	probably damaging	Het
Cdhr4	T	C	9: 107,995,592	V280A	possibly damaging	Het
Cfap54	C	T	10: 92,878,592	V2642I	unknown	Het
Chd2	T	C	7: 73,490,497	H661R	probably damaging	Het
Cntnap2	A	G	6: 46,856,142	D763G	possibly damaging	Het
Csnk1g2	T	C	10: 80,638,259	C160R	probably damaging	Het
Cyb5r4	T	C	9: 87,022,233	S19P	probably benign	Het
Cyp4a30b	G	A	4: 115,452,637	V12M	probably benign	Het
Dpp6	C	T	5: 27,725,713	P848S	probably benign	Het
Dzip1	T	C	14: 118,922,373	Y141C	probably benign	Het
Eif2b3	C	A	4: 117,070,855	Q424K	probably benign	Het
Fbxw14	G	A	9: 109,276,237	R287*	probably null	Het
Fcgbp	T	G	7: 28,084,987	S157R	probably benign	Het
Fmnl2	T	G	2: 53,114,202	V642G	unknown	Het
Gpr119	C	T	X: 48,673,399	R287Q	possibly damaging	Het
Grm7	C	T	6: 111,254,005	T463I	possibly damaging	Het
Haus4	G	A	14: 54,542,253	R305C	probably benign	Het
Htr1f	A	G	16: 64,926,174	S252P	probably benign	Het
Ino80b	T	C	6: 83,121,880	Q359R	probably damaging	Het
Itgad	C	A	7: 128,198,370	Y924*	probably null	Het
Itpr2	A	G	6: 146,241,212	Y1703H	probably damaging	Het
Kif5c	T	A	2: 49,694,787	V174E	probably damaging	Het
Kifc2	A	G	15: 76,664,171	E405G	probably damaging	Het
Klk1b3	T	C	7: 44,202,244	V242A	possibly damaging	Het
Kndc1	T	C	7: 139,937,996	F1615S	probably damaging	Het
Lmtk2	T	A	5: 144,175,975	L1171*	probably null	Het
Myh10	A	G	11: 68,802,952	E1530G	probably damaging	Het
Nav3	T	A	10: 109,863,860	S258C	possibly damaging	Het
Nudcd3	C	T	11: 6,150,587	G186S	probably damaging	Het
Olfr1411	T	A	1: 92,597,046	C176S	probably damaging	Het
Otog	C	T	7: 46,301,481	S374F	possibly damaging	Het
P2ry2	T	A	7: 100,998,556	I181F	possibly damaging	Het
Pde11a	T	C	2: 76,291,233	I335V	probably benign	Het
Phyhip	A	C	14: 70,466,935	D198A	probably damaging	Het
Pik3r5	A	T	11: 68,494,234	Y655F	probably damaging	Het
Rab6a	T	C	7: 100,629,938	I95T	possibly damaging	Het
Sgsm1	T	C	5: 113,287,231	E99G	probably damaging	Het
Skint10	A	T	4: 112,746,695	F98L	probably benign	Het
Slc35c2	A	G	2: 165,277,458	S321P	probably benign	Het
Smyd1	T	A	6: 71,215,884	E447V	probably damaging	Het
Smyd4	T	C	11: 75,390,406	V235A	probably benign	Het
Sod2	A	G	17: 13,008,366	Y69C	probably benign	Het
Spns1	G	A	7: 126,372,421	S319F	possibly damaging	Het
Tfap2b	A	G	1: 19,214,113	S82G	probably benign	Het
Tln2	C	A	9: 67,221,411	E1465D	possibly damaging	Het
Tln2	A	G	9: 67,221,517	I1430T	probably damaging	Het
Trio	G	T	15: 27,741,271	N2680K	probably damaging	Het
Trmt10c	A	T	16: 56,034,159	V371D	probably damaging	Het
Trpm3	T	C	19: 22,988,216	S1692P	probably damaging	Het
Uhrf1bp1l	T	C	10: 89,790,735		probably benign	Het
Usb1	G	T	8: 95,345,356	C228F	probably benign	Het
Veph1	G	T	3: 66,158,225	H474N	probably benign	Het
Wls	A	G	3: 159,934,292	T520A	possibly damaging	Het
Ywhae	T	C	11: 75,733,052	Y9H	probably damaging	Het
Zranb3	C	T	1: 128,036,610	V127M	possibly 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
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
R9320:Bicdl1	UTSW	5	115724710	missense	probably damaging	0.96
R9527:Bicdl1	UTSW	5	115673129	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGACTCACCCTGCTGAGTTG -3'
(R):5'- ACAAGTCCTGTGTTCTAGAAGAG -3'

Sequencing Primer
(F):5'- ACCCTGCTGAGTTGGTCCAG -3'
(R):5'- TGAATTGGGCAACATGCC -3'

Posted On

2021-04-30