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

068726-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.304) 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 (GRCm38)	H348L	probably benign	Het
Alpk1	A	T	3: 127,684,375 (GRCm38)	Y74*	probably null	Het
Ass1	T	C	2: 31,493,177 (GRCm38)		probably benign	Het
Atp8b4	C	T	2: 126,372,164 (GRCm38)		probably benign	Het
Atrn	C	A	2: 130,906,878 (GRCm38)	N106K	probably damaging	Het
Atrn	T	C	2: 131,004,574 (GRCm38)	V1256A	probably damaging	Het
Cdhr4	T	C	9: 107,995,592 (GRCm38)	V280A	possibly damaging	Het
Cfap54	C	T	10: 92,878,592 (GRCm38)	V2642I	unknown	Het
Chd2	T	C	7: 73,490,497 (GRCm38)	H661R	probably damaging	Het
Cntnap2	A	G	6: 46,856,142 (GRCm38)	D763G	possibly damaging	Het
Csnk1g2	T	C	10: 80,638,259 (GRCm38)	C160R	probably damaging	Het
Cyb5r4	T	C	9: 87,022,233 (GRCm38)	S19P	probably benign	Het
Cyp4a30b	G	A	4: 115,452,637 (GRCm38)	V12M	probably benign	Het
Dpp6	C	T	5: 27,725,713 (GRCm38)	P848S	probably benign	Het
Dzip1	T	C	14: 118,922,373 (GRCm38)	Y141C	probably benign	Het
Eif2b3	C	A	4: 117,070,855 (GRCm38)	Q424K	probably benign	Het
Fbxw14	G	A	9: 109,276,237 (GRCm38)	R287*	probably null	Het
Fcgbp	T	G	7: 28,084,987 (GRCm38)	S157R	probably benign	Het
Fmnl2	T	G	2: 53,114,202 (GRCm38)	V642G	unknown	Het
Gpr119	C	T	X: 48,673,399 (GRCm38)	R287Q	possibly damaging	Het
Grm7	C	T	6: 111,254,005 (GRCm38)	T463I	possibly damaging	Het
Haus4	G	A	14: 54,542,253 (GRCm38)	R305C	probably benign	Het
Htr1f	A	G	16: 64,926,174 (GRCm38)	S252P	probably benign	Het
Ino80b	T	C	6: 83,121,880 (GRCm38)	Q359R	probably damaging	Het
Itgad	C	A	7: 128,198,370 (GRCm38)	Y924*	probably null	Het
Itpr2	A	G	6: 146,241,212 (GRCm38)	Y1703H	probably damaging	Het
Kif5c	T	A	2: 49,694,787 (GRCm38)	V174E	probably damaging	Het
Kifc2	A	G	15: 76,664,171 (GRCm38)	E405G	probably damaging	Het
Klk1b3	T	C	7: 44,202,244 (GRCm38)	V242A	possibly damaging	Het
Kndc1	T	C	7: 139,937,996 (GRCm38)	F1615S	probably damaging	Het
Lmtk2	T	A	5: 144,175,975 (GRCm38)	L1171*	probably null	Het
Myh10	A	G	11: 68,802,952 (GRCm38)	E1530G	probably damaging	Het
Nav3	T	A	10: 109,863,860 (GRCm38)	S258C	possibly damaging	Het
Nudcd3	C	T	11: 6,150,587 (GRCm38)	G186S	probably damaging	Het
Olfr1411	T	A	1: 92,597,046 (GRCm38)	C176S	probably damaging	Het
Otog	C	T	7: 46,301,481 (GRCm38)	S374F	possibly damaging	Het
P2ry2	T	A	7: 100,998,556 (GRCm38)	I181F	possibly damaging	Het
Pde11a	T	C	2: 76,291,233 (GRCm38)	I335V	probably benign	Het
Phyhip	A	C	14: 70,466,935 (GRCm38)	D198A	probably damaging	Het
Pik3r5	A	T	11: 68,494,234 (GRCm38)	Y655F	probably damaging	Het
Rab6a	T	C	7: 100,629,938 (GRCm38)	I95T	possibly damaging	Het
Sgsm1	T	C	5: 113,287,231 (GRCm38)	E99G	probably damaging	Het
Skint10	A	T	4: 112,746,695 (GRCm38)	F98L	probably benign	Het
Slc35c2	A	G	2: 165,277,458 (GRCm38)	S321P	probably benign	Het
Smyd1	T	A	6: 71,215,884 (GRCm38)	E447V	probably damaging	Het
Smyd4	T	C	11: 75,390,406 (GRCm38)	V235A	probably benign	Het
Sod2	A	G	17: 13,008,366 (GRCm38)	Y69C	probably benign	Het
Spns1	G	A	7: 126,372,421 (GRCm38)	S319F	possibly damaging	Het
Tfap2b	A	G	1: 19,214,113 (GRCm38)	S82G	probably benign	Het
Tln2	A	G	9: 67,221,517 (GRCm38)	I1430T	probably damaging	Het
Tln2	C	A	9: 67,221,411 (GRCm38)	E1465D	possibly damaging	Het
Trio	G	T	15: 27,741,271 (GRCm38)	N2680K	probably damaging	Het
Trmt10c	A	T	16: 56,034,159 (GRCm38)	V371D	probably damaging	Het
Trpm3	T	C	19: 22,988,216 (GRCm38)	S1692P	probably damaging	Het
Uhrf1bp1l	T	C	10: 89,790,735 (GRCm38)		probably benign	Het
Usb1	G	T	8: 95,345,356 (GRCm38)	C228F	probably benign	Het
Veph1	G	T	3: 66,158,225 (GRCm38)	H474N	probably benign	Het
Wls	A	G	3: 159,934,292 (GRCm38)	T520A	possibly damaging	Het
Ywhae	T	C	11: 75,733,052 (GRCm38)	Y9H	probably damaging	Het
Zranb3	C	T	1: 128,036,610 (GRCm38)	V127M	possibly damaging	Het

Other mutations in Bicdl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01434:Bicdl1	APN	5	115,670,156 (GRCm38)	nonsense	probably null
IGL01902:Bicdl1	APN	5	115,651,874 (GRCm38)	missense	probably damaging	1.00
IGL02416:Bicdl1	APN	5	115,663,885 (GRCm38)	missense	probably damaging	1.00
IGL02417:Bicdl1	APN	5	115,673,158 (GRCm38)	missense	probably damaging	1.00
IGL03088:Bicdl1	APN	5	115,663,822 (GRCm38)	missense	possibly damaging	0.83
IGL03275:Bicdl1	APN	5	115,731,160 (GRCm38)	missense	probably damaging	1.00
bargain	UTSW	5	115,670,153 (GRCm38)	critical splice donor site	probably null
R6807_Bicdl1_588	UTSW	5	115,672,143 (GRCm38)	critical splice donor site	probably null
R0837:Bicdl1	UTSW	5	115,731,292 (GRCm38)	missense	probably benign	0.06
R0924:Bicdl1	UTSW	5	115,661,528 (GRCm38)	splice site	probably benign
R1581:Bicdl1	UTSW	5	115,651,267 (GRCm38)	unclassified	probably benign
R1589:Bicdl1	UTSW	5	115,651,266 (GRCm38)	unclassified	probably benign
R1669:Bicdl1	UTSW	5	115,656,016 (GRCm38)	missense	possibly damaging	0.84
R2076:Bicdl1	UTSW	5	115,655,928 (GRCm38)	missense	probably damaging	0.96
R2089:Bicdl1	UTSW	5	115,724,579 (GRCm38)	missense	probably damaging	1.00
R2091:Bicdl1	UTSW	5	115,724,579 (GRCm38)	missense	probably damaging	1.00
R2091:Bicdl1	UTSW	5	115,724,579 (GRCm38)	missense	probably damaging	1.00
R4772:Bicdl1	UTSW	5	115,661,478 (GRCm38)	missense	probably benign	0.36
R6185:Bicdl1	UTSW	5	115,670,153 (GRCm38)	critical splice donor site	probably null
R6807:Bicdl1	UTSW	5	115,672,143 (GRCm38)	critical splice donor site	probably null
R7107:Bicdl1	UTSW	5	115,670,170 (GRCm38)	missense	probably benign	0.03
R7157:Bicdl1	UTSW	5	115,651,857 (GRCm38)	missense	possibly damaging	0.92
R7205:Bicdl1	UTSW	5	115,670,281 (GRCm38)	missense	probably damaging	1.00
R7485:Bicdl1	UTSW	5	115,663,786 (GRCm38)	nonsense	probably null
R7781:Bicdl1	UTSW	5	115,661,487 (GRCm38)	missense	probably damaging	1.00
R8236:Bicdl1	UTSW	5	115,649,559 (GRCm38)	missense	probably benign	0.28
R9320:Bicdl1	UTSW	5	115,724,710 (GRCm38)	missense	probably damaging	0.96
R9527:Bicdl1	UTSW	5	115,673,129 (GRCm38)	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