Mutagenetix > Incidental Mutation

Incidental Mutation 'R7157:Bicdl1'

557366

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

045258-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.366) question?

Stock #

R7157 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115786234-115869680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 115789916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 511 (Q511K)

Ref Sequence

ENSEMBL: ENSMUSP00000053547 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000055408
AA Change: Q511K

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000053547
Gene: ENSMUSG00000041609
AA Change: Q511K

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

possibly damaging
Transcript: ENSMUST00000118576
AA Change: Q16K

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112842
Gene: ENSMUSG00000041609
AA Change: Q16K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121746
AA Change: Q16K

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112949
Gene: ENSMUSG00000041609
AA Change: Q16K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000141976
AA Change: Q16K

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000148276
AA Change: Q290K

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119664
Gene: ENSMUSG00000041609
AA Change: Q290K

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	G	A	7: 41,276,400 (GRCm39)	G701D	probably damaging	Het
6030468B19Rik	T	A	11: 117,693,780 (GRCm39)	N82K	probably damaging	Het
Abca17	A	T	17: 24,554,564 (GRCm39)	V130E	possibly damaging	Het
Alpk2	T	A	18: 65,399,348 (GRCm39)	K2077*	probably null	Het
Aox1	T	C	1: 58,322,651 (GRCm39)	F73S	probably benign	Het
Ap3b1	T	A	13: 94,668,542 (GRCm39)	C965*	probably null	Het
Arhgef10	T	A	8: 14,980,030 (GRCm39)	V90E	probably damaging	Het
Atr	T	A	9: 95,751,953 (GRCm39)	H523Q	probably benign	Het
Capn15	A	T	17: 26,184,228 (GRCm39)	N150K	probably damaging	Het
Card6	A	T	15: 5,129,591 (GRCm39)	W602R	probably benign	Het
Clnk	A	T	5: 38,927,234 (GRCm39)	S82T	possibly damaging	Het
Cmah	T	C	13: 24,620,612 (GRCm39)	I282T	probably damaging	Het
Cog8	A	G	8: 107,779,131 (GRCm39)	I382T	probably benign	Het
Dhrs7c	G	T	11: 67,700,722 (GRCm39)		probably null	Het
Dhrs9	T	A	2: 69,223,502 (GRCm39)	D83E	probably damaging	Het
Dmac2l	A	T	12: 69,788,562 (GRCm39)	N154Y	probably benign	Het
Dmgdh	G	A	13: 93,852,043 (GRCm39)	G624E	probably damaging	Het
Dnajc30	C	A	5: 135,093,569 (GRCm39)	F155L	probably damaging	Het
Drc7	A	C	8: 95,800,778 (GRCm39)	K600T	probably damaging	Het
Efhb	A	C	17: 53,707,928 (GRCm39)	I745S	probably damaging	Het
Elp1	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176 (GRCm39)		probably benign	Het
Fasn	T	A	11: 120,701,291 (GRCm39)	K1988*	probably null	Het
Gad2	T	C	2: 22,525,035 (GRCm39)	L273P	probably damaging	Het
Gm45861	A	T	8: 28,032,536 (GRCm39)	K887*	probably null	Het
Gm45861	A	T	8: 28,032,537 (GRCm39)	K887I	unknown	Het
Gm9195	A	G	14: 72,718,221 (GRCm39)	Y152H	probably damaging	Het
Grip1	G	A	10: 119,781,061 (GRCm39)	D237N	probably damaging	Het
Hamp	A	C	7: 30,641,961 (GRCm39)	C65G	possibly damaging	Het
Hes3	A	G	4: 152,372,581 (GRCm39)		probably benign	Het
Hgh1	T	C	15: 76,254,650 (GRCm39)	I342T	probably damaging	Het
Hlcs	T	A	16: 94,069,023 (GRCm39)	K66*	probably null	Het
Ift80	A	T	3: 68,898,277 (GRCm39)	C19*	probably null	Het
Kbtbd12	C	T	6: 88,595,650 (GRCm39)	C60Y	probably damaging	Het
Kdm4c	T	A	4: 74,263,804 (GRCm39)	V696E	probably benign	Het
Lect2	A	G	13: 56,690,803 (GRCm39)	I117T	unknown	Het
Lipn	T	A	19: 34,054,390 (GRCm39)	Y209*	probably null	Het
Lpin3	G	A	2: 160,740,627 (GRCm39)	V391I	probably benign	Het
Mocs2	A	T	13: 114,961,143 (GRCm39)	I47L	probably benign	Het
Mogs	T	A	6: 83,095,488 (GRCm39)	H768Q	probably benign	Het
Nbeal1	T	A	1: 60,276,317 (GRCm39)	I686N	probably damaging	Het
Nbeal1	T	A	1: 60,299,793 (GRCm39)	C1376*	probably null	Het
Ninl	A	G	2: 150,791,263 (GRCm39)	Y1087H	possibly damaging	Het
Or10a3	A	G	7: 108,480,475 (GRCm39)	F113L	probably benign	Het
Or10ak14	A	G	4: 118,611,615 (GRCm39)	V42A	possibly damaging	Het
Or4k5	A	G	14: 50,385,689 (GRCm39)	L214S	probably damaging	Het
Or51b6b	A	C	7: 103,309,788 (GRCm39)	L223R	probably damaging	Het
Or6s1	A	G	14: 51,308,616 (GRCm39)	V78A	possibly damaging	Het
Or8k30	T	A	2: 86,339,369 (GRCm39)	C189S	probably damaging	Het
Pkn1	A	G	8: 84,398,363 (GRCm39)	F768S	probably damaging	Het
Plekha2	A	G	8: 25,553,957 (GRCm39)	F82L	probably damaging	Het
Ppie	T	C	4: 123,028,900 (GRCm39)	E111G	probably benign	Het
Rps6ka5	T	C	12: 100,547,679 (GRCm39)	Y277C	probably damaging	Het
Scgb2b12	A	G	7: 32,026,102 (GRCm39)	V30A	probably benign	Het
Serac1	A	T	17: 6,124,476 (GRCm39)	S16T	probably benign	Het
Sf3a3	T	C	4: 124,616,693 (GRCm39)	Y192H	probably damaging	Het
Slc14a1	A	G	18: 78,145,626 (GRCm39)	V436A	probably benign	Het
Smc3	T	A	19: 53,630,329 (GRCm39)	M1112K	probably damaging	Het
Tnk2	G	A	16: 32,499,986 (GRCm39)	G1017E	probably damaging	Het
Tnn	T	A	1: 159,953,947 (GRCm39)	K603*	probably null	Het
Trpm6	T	C	19: 18,815,462 (GRCm39)	S1183P	possibly damaging	Het
Ttn	A	T	2: 76,614,724 (GRCm39)	V16964E	possibly damaging	Het
Usp17le	G	A	7: 104,417,696 (GRCm39)	T482I	probably benign	Het
Vmn1r219	T	A	13: 23,347,525 (GRCm39)	M238K	probably damaging	Het
Wfs1	C	T	5: 37,124,516 (GRCm39)	G792S	probably benign	Het
Xpa	A	T	4: 46,185,612 (GRCm39)	L122Q	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
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
R8236:Bicdl1	UTSW	5	115,787,618 (GRCm39)	missense	probably benign	0.28
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'- ACCGAATGAGCAGCTGAGTG -3'
(R):5'- CTTGAAGAAGCATAGCTCCAGG -3'

Sequencing Primer
(F):5'- TGGGGCCGACTCCACATC -3'
(R):5'- ATAGCTCCAGGGACCCTATG -3'

Posted On

2019-06-26