Mutagenetix > Incidental Mutation

Incidental Mutation 'R8236:Bicdl1'

637349

Institutional Source

Beutler Lab

Gene Symbol

Bicdl1

Ensembl Gene

ENSMUSG00000041609

Gene Name

BICD family like cargo adaptor 1

Synonyms

2210403N09Rik, BICDR-1, Ccdc64

MMRRC Submission

067668-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.372) question?

Stock #

R8236 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115786234-115869680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115787618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 527 (H527R)

Ref Sequence

ENSEMBL: ENSMUSP00000053547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031492] [ENSMUST00000055408] [ENSMUST00000118576] [ENSMUST00000121746] [ENSMUST00000138885] [ENSMUST00000141976] [ENSMUST00000148276]

AlphaFold

A0JNT9

Predicted Effect

probably benign
Transcript: ENSMUST00000031492

SMART Domains

Protein: ENSMUSP00000031492
Gene: ENSMUSG00000029518

Domain	Start	End	E-Value	Type
RAB	9	171	5.07e-89	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000055408
AA Change: H527R

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000053547
Gene: ENSMUSG00000041609
AA Change: H527R

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 benign
Transcript: ENSMUST00000118576
AA Change: H32R

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112842
Gene: ENSMUSG00000041609
AA Change: H32R

Domain	Start	End	E-Value	Type
coiled coil region	5	34	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121746
AA Change: H32R

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112949
Gene: ENSMUSG00000041609
AA Change: H32R

Domain	Start	End	E-Value	Type
coiled coil region	5	34	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138885

SMART Domains

Protein: ENSMUSP00000138402
Gene: ENSMUSG00000029518

Domain	Start	End	E-Value	Type
Pfam:Ras	10	42	1e-8	PFAM
Pfam:Miro	10	46	7.5e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141976

Predicted Effect

probably benign
Transcript: ENSMUST00000148276

SMART Domains

Protein: ENSMUSP00000119664
Gene: ENSMUSG00000041609

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.8%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	C	T	1: 85,974,115 (GRCm39)	A144V	possibly damaging	Het
Actr8	A	G	14: 29,704,585 (GRCm39)	I51M	probably damaging	Het
Afm	A	T	5: 90,671,747 (GRCm39)	D143V	probably damaging	Het
Ankfy1	T	A	11: 72,645,181 (GRCm39)	S753R	possibly damaging	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
Birc6	G	C	17: 74,918,126 (GRCm39)	L1845F	probably damaging	Het
Brip1	C	A	11: 86,029,938 (GRCm39)	D569Y	probably damaging	Het
Cab39	T	C	1: 85,776,092 (GRCm39)	L263P	probably damaging	Het
Cblb	C	A	16: 51,986,392 (GRCm39)	P545Q	possibly damaging	Het
Cdk5rap2	G	T	4: 70,160,722 (GRCm39)	P1579Q	probably benign	Het
Cdt1	A	G	8: 123,298,767 (GRCm39)	E468G	probably damaging	Het
Col28a1	A	G	6: 8,097,024 (GRCm39)		probably null	Het
Coro2a	A	G	4: 46,548,796 (GRCm39)	I166T	possibly damaging	Het
Ctnnd2	G	A	15: 30,647,164 (GRCm39)	A287T	probably benign	Het
Dcc	C	T	18: 72,088,089 (GRCm39)	V50I	probably benign	Het
Defb30	A	T	14: 63,287,216 (GRCm39)	M19K	unknown	Het
Dync2h1	C	A	9: 7,080,363 (GRCm39)		probably benign	Het
Edc4	A	G	8: 106,618,905 (GRCm39)	T1291A	possibly damaging	Het
Epyc	A	T	10: 97,517,067 (GRCm39)	N302Y	probably damaging	Het
Espn	G	A	4: 152,233,487 (GRCm39)	T106I	probably damaging	Het
Fam135a	T	C	1: 24,059,729 (GRCm39)		probably null	Het
Fam171b	G	A	2: 83,710,550 (GRCm39)	E741K	probably damaging	Het
Fgfr1	G	T	8: 26,052,288 (GRCm39)	E205*	probably null	Het
Flt3	A	G	5: 147,293,670 (GRCm39)	S469P	probably benign	Het
Gdpd3	A	G	7: 126,367,838 (GRCm39)	K224E	probably benign	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Gm43518	C	T	5: 124,072,285 (GRCm39)	Q17*	probably null	Het
Gm4353	T	C	7: 115,682,618 (GRCm39)	Y321C	probably damaging	Het
Gphn	A	G	12: 78,711,311 (GRCm39)	H631R	probably damaging	Het
Hook1	T	A	4: 95,903,042 (GRCm39)		probably null	Het
Il9	T	A	13: 56,630,058 (GRCm39)		probably benign	Het
Itpr2	A	G	6: 146,292,281 (GRCm39)		probably null	Het
Lhcgr	A	T	17: 89,050,014 (GRCm39)	L504*	probably null	Het
Mical3	A	G	6: 120,989,504 (GRCm39)	V272A		Het
Mup10	A	G	4: 60,537,562 (GRCm39)	I63T	probably damaging	Het
Mxi1	C	G	19: 53,358,029 (GRCm39)	P165R	probably damaging	Het
Nanog	A	T	6: 122,690,131 (GRCm39)	I179F	probably benign	Het
Or5w14	T	A	2: 87,542,104 (GRCm39)	I49F	possibly damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Pip	A	G	6: 41,824,596 (GRCm39)	D28G	probably damaging	Het
Ppp2r3d	T	C	9: 124,440,067 (GRCm38)	H53R		Het
Psmd6	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	14: 14,119,882 (GRCm38)		probably null	Het
Ptpn4	A	G	1: 119,606,552 (GRCm39)	V781A	possibly damaging	Het
Ptprt	C	T	2: 161,528,988 (GRCm39)		probably null	Het
Rtf1	T	C	2: 119,531,695 (GRCm39)	S141P	probably damaging	Het
Slc2a1	G	C	4: 118,990,454 (GRCm39)	S226T	probably benign	Het
Smyd3	A	C	1: 179,233,205 (GRCm39)		probably null	Het
Sos1	T	C	17: 80,715,712 (GRCm39)	E1015G	probably benign	Het
Sult1b1	G	T	5: 87,669,383 (GRCm39)	T155N	probably damaging	Het
Tcam1	A	G	11: 106,177,243 (GRCm39)	I412V	probably benign	Het
Tet2	G	A	3: 133,193,547 (GRCm39)	P296S	probably benign	Het
Tmem30c	T	C	16: 57,096,542 (GRCm39)	D193G	probably null	Het
Trem2	G	T	17: 48,658,934 (GRCm39)	W233L	probably benign	Het
Trpm3	C	A	19: 22,964,772 (GRCm39)	D1422E	probably benign	Het
Ttbk1	T	G	17: 46,781,655 (GRCm39)	D366A	probably damaging	Het
Ttyh1	G	A	7: 4,128,547 (GRCm39)	G148D	probably benign	Het
Ubr2	T	C	17: 47,262,835 (GRCm39)	M1259V	probably benign	Het
Zfp608	T	A	18: 55,032,281 (GRCm39)	D553V	probably damaging	Het
Zkscan2	A	G	7: 123,079,135 (GRCm39)	S941P	probably benign	Het
Zranb1	T	C	7: 132,551,393 (GRCm39)	Y15H	probably damaging	Het

Other mutations in Bicdl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01434:Bicdl1	APN	5	115,808,215 (GRCm39)	nonsense	probably null
IGL01902:Bicdl1	APN	5	115,789,933 (GRCm39)	missense	probably damaging	1.00
IGL02416:Bicdl1	APN	5	115,801,944 (GRCm39)	missense	probably damaging	1.00
IGL02417:Bicdl1	APN	5	115,811,217 (GRCm39)	missense	probably damaging	1.00
IGL03088:Bicdl1	APN	5	115,801,881 (GRCm39)	missense	possibly damaging	0.83
IGL03275:Bicdl1	APN	5	115,869,219 (GRCm39)	missense	probably damaging	1.00
bargain	UTSW	5	115,808,212 (GRCm39)	critical splice donor site	probably null
R6807_Bicdl1_588	UTSW	5	115,810,202 (GRCm39)	critical splice donor site	probably null
R0837:Bicdl1	UTSW	5	115,869,351 (GRCm39)	missense	probably benign	0.06
R0924:Bicdl1	UTSW	5	115,799,587 (GRCm39)	splice site	probably benign
R1581:Bicdl1	UTSW	5	115,789,326 (GRCm39)	unclassified	probably benign
R1589:Bicdl1	UTSW	5	115,789,325 (GRCm39)	unclassified	probably benign
R1669:Bicdl1	UTSW	5	115,794,075 (GRCm39)	missense	possibly damaging	0.84
R2076:Bicdl1	UTSW	5	115,793,987 (GRCm39)	missense	probably damaging	0.96
R2089:Bicdl1	UTSW	5	115,862,638 (GRCm39)	missense	probably damaging	1.00
R2091:Bicdl1	UTSW	5	115,862,638 (GRCm39)	missense	probably damaging	1.00
R2091:Bicdl1	UTSW	5	115,862,638 (GRCm39)	missense	probably damaging	1.00
R4772:Bicdl1	UTSW	5	115,799,537 (GRCm39)	missense	probably benign	0.36
R6185:Bicdl1	UTSW	5	115,808,212 (GRCm39)	critical splice donor site	probably null
R6807:Bicdl1	UTSW	5	115,810,202 (GRCm39)	critical splice donor site	probably null
R7107:Bicdl1	UTSW	5	115,808,229 (GRCm39)	missense	probably benign	0.03
R7157:Bicdl1	UTSW	5	115,789,916 (GRCm39)	missense	possibly damaging	0.92
R7205:Bicdl1	UTSW	5	115,808,340 (GRCm39)	missense	probably damaging	1.00
R7485:Bicdl1	UTSW	5	115,801,845 (GRCm39)	nonsense	probably null
R7781:Bicdl1	UTSW	5	115,799,546 (GRCm39)	missense	probably damaging	1.00
R8816:Bicdl1	UTSW	5	115,862,804 (GRCm39)	missense	probably damaging	1.00
R9320:Bicdl1	UTSW	5	115,862,769 (GRCm39)	missense	probably damaging	0.96
R9527:Bicdl1	UTSW	5	115,811,188 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GGAACCTTTTCAGACTGCCAC -3'
(R):5'- CGCACTAGCTACATGGCATC -3'

Sequencing Primer
(F):5'- GAACCTTTTCAGACTGCCACTAGTC -3'
(R):5'- ATGGCATCATGTGTCCCG -3'

Posted On

2020-07-13