Mutagenetix > Incidental Mutation

Incidental Mutation 'R5195:Zbed5'

400085

Institutional Source

Beutler Lab

Gene Symbol

Zbed5

Ensembl Gene

ENSMUSG00000034173

Gene Name

zinc finger BED-type containing 5

Synonyms

2410018M08Rik, Chchd2l, Zbed5

MMRRC Submission

042771-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5195 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129924564-129932464 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 129931019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 323 (V323F)

Ref Sequence

ENSEMBL: ENSMUSP00000044533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041466] [ENSMUST00000077320] [ENSMUST00000140667]

AlphaFold

B2RPU8

Predicted Effect

probably benign
Transcript: ENSMUST00000041466
AA Change: V323F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000044533
Gene: ENSMUSG00000034173
AA Change: V323F

Domain	Start	End	E-Value	Type
low complexity region	16	51	N/A	INTRINSIC
low complexity region	60	75	N/A	INTRINSIC
Pfam:DUF4371	281	412	1.6e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000077320

SMART Domains

Protein: ENSMUSP00000116455
Gene: ENSMUSG00000034173

Domain	Start	End	E-Value	Type
low complexity region	2	30	N/A	INTRINSIC
low complexity region	39	54	N/A	INTRINSIC
Pfam:CHCH	95	128	2.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140667

SMART Domains

Protein: ENSMUSP00000117510
Gene: ENSMUSG00000025537

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	20	143	4.1e-9	PFAM
Pfam:Pkinase	20	144	3.2e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202430

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (72/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is unusual in that its coding sequence is mostly derived from Charlie-like DNA transposon; however, it does not appear to be an active DNA transposon as it is not flanked by terminal inverted repeats. The encoded protein is conserved among the mammalian Laurasiatheria branch. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2009]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apoo-ps	T	C	13: 107,551,053 (GRCm39)		noncoding transcript	Het
Arhgef40	T	A	14: 52,227,269 (GRCm39)	S438T	possibly damaging	Het
Barhl2	A	G	5: 106,601,305 (GRCm39)	L358P	possibly damaging	Het
Bicra	G	A	7: 15,713,878 (GRCm39)	P775S	possibly damaging	Het
Ccdc78	T	A	17: 26,008,962 (GRCm39)		probably null	Het
Ccnb1-ps	T	A	7: 41,755,522 (GRCm39)		noncoding transcript	Het
Cct6a	A	T	5: 129,871,718 (GRCm39)		noncoding transcript	Het
Cep120	T	A	18: 53,854,770 (GRCm39)	H455L	probably damaging	Het
Cobl	C	T	11: 12,203,565 (GRCm39)	V964I	probably benign	Het
Cpt1a	A	T	19: 3,433,800 (GRCm39)	I761F	possibly damaging	Het
Crk	T	A	11: 75,570,289 (GRCm39)	Y14N	probably damaging	Het
Deup1	A	T	9: 15,486,487 (GRCm39)	Y398N	possibly damaging	Het
Efcab15	T	C	11: 103,089,794 (GRCm39)	Y381C	probably damaging	Het
Epha3	C	T	16: 63,366,510 (GRCm39)	G980D	possibly damaging	Het
Fanca	A	G	8: 124,030,684 (GRCm39)		probably benign	Het
Gbp4	T	A	5: 105,267,398 (GRCm39)	D507V	probably benign	Het
Gtf2i	A	T	5: 134,273,686 (GRCm39)	L740*	probably null	Het
Hmgn2	C	A	4: 133,694,597 (GRCm39)	A8S	probably benign	Het
Hook2	A	T	8: 85,721,405 (GRCm39)	N252I	probably damaging	Het
Igkv19-93	T	A	6: 68,713,510 (GRCm39)	T39S	probably damaging	Het
Inpp5j	A	C	11: 3,449,889 (GRCm39)		probably null	Het
Insyn2a	A	T	7: 134,486,145 (GRCm39)	F469I	probably damaging	Het
Kbtbd3	G	C	9: 4,316,905 (GRCm39)	E19Q	possibly damaging	Het
Kcns2	G	A	15: 34,839,677 (GRCm39)	A347T	possibly damaging	Het
Klhl31	A	G	9: 77,557,572 (GRCm39)	E96G	possibly damaging	Het
Kptn	A	G	7: 15,857,028 (GRCm39)	Y172C	probably damaging	Het
Krt86	T	A	15: 101,374,814 (GRCm39)	M328K	probably benign	Het
Lama1	A	G	17: 68,071,795 (GRCm39)	D894G	probably benign	Het
Lars2	T	C	9: 123,282,375 (GRCm39)	V653A	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lhcgr	A	T	17: 89,050,374 (GRCm39)	V384D	probably damaging	Het
Malrd1	C	T	2: 16,155,621 (GRCm39)	T2010M	unknown	Het
Maml2	T	A	9: 13,532,410 (GRCm39)	N541K	probably damaging	Het
Med24	T	C	11: 98,601,107 (GRCm39)	K585R	possibly damaging	Het
Muc20	G	A	16: 32,614,846 (GRCm39)	S177L	unknown	Het
Mylk	T	A	16: 34,799,585 (GRCm39)	F1658L	probably damaging	Het
Obscn	C	T	11: 58,951,676 (GRCm39)	V4392I	possibly damaging	Het
Or10d5	A	G	9: 39,861,975 (GRCm39)	S31P	probably benign	Het
Or11g2	T	C	14: 50,856,243 (GRCm39)	L188P	probably damaging	Het
Pcnx2	A	T	8: 126,528,288 (GRCm39)	F1311I	possibly damaging	Het
Pcsk1	T	C	13: 75,274,974 (GRCm39)	L521P	probably damaging	Het
Pde4a	A	G	9: 21,115,629 (GRCm39)	T445A	possibly damaging	Het
Pgam5	A	T	5: 110,413,854 (GRCm39)	L103*	probably null	Het
Pkd2	G	A	5: 104,634,547 (GRCm39)	R526Q	probably benign	Het
Polr2a	T	C	11: 69,634,905 (GRCm39)	Y618C	probably damaging	Het
Pramel16	T	A	4: 143,677,450 (GRCm39)	E43V	probably damaging	Het
Pramel5	T	A	4: 143,998,311 (GRCm39)	M311L	probably benign	Het
Rbbp8	T	C	18: 11,855,208 (GRCm39)	F478L	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryk	T	C	9: 102,744,812 (GRCm39)	V122A	probably benign	Het
Sik3	G	T	9: 46,120,142 (GRCm39)		probably null	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc35e4	T	A	11: 3,862,872 (GRCm39)	I106F	possibly damaging	Het
Slc41a3	T	C	6: 90,610,653 (GRCm39)	S172P	probably damaging	Het
Snrnp70	T	A	7: 45,044,134 (GRCm39)	K32N	probably damaging	Het
Spag17	T	C	3: 100,008,704 (GRCm39)	Y1945H	probably benign	Het
St7	A	G	6: 17,743,636 (GRCm39)		probably benign	Het
Stab1	C	A	14: 30,862,478 (GRCm39)		probably benign	Het
Taf13	G	A	3: 108,488,390 (GRCm39)	R91Q	probably damaging	Het
Tmem200a	T	C	10: 25,954,854 (GRCm39)		probably benign	Het
Tnc	A	T	4: 63,885,489 (GRCm39)	L1871Q	probably damaging	Het
Toe1	T	C	4: 116,661,852 (GRCm39)	H439R	probably damaging	Het
Trpm1	T	C	7: 63,887,441 (GRCm39)	V893A	possibly damaging	Het
Ubr3	G	A	2: 69,786,378 (GRCm39)	A831T	probably benign	Het
Wdr89	C	T	12: 75,680,062 (GRCm39)	R64Q	probably benign	Het
Zeb2	T	C	2: 44,891,647 (GRCm39)	R287G	probably damaging	Het

Other mutations in Zbed5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02225:Zbed5	APN	5	129,930,974 (GRCm39)	splice site	probably null
IGL03334:Zbed5	APN	5	129,931,196 (GRCm39)	missense	possibly damaging	0.66
R0449:Zbed5	UTSW	5	129,930,567 (GRCm39)	missense	probably damaging	1.00
R0744:Zbed5	UTSW	5	129,931,113 (GRCm39)	missense	possibly damaging	0.92
R0763:Zbed5	UTSW	5	129,931,020 (GRCm39)	missense	probably benign	0.00
R1967:Zbed5	UTSW	5	129,930,510 (GRCm39)	missense	possibly damaging	0.68
R2246:Zbed5	UTSW	5	129,931,592 (GRCm39)	missense	probably benign	0.01
R2925:Zbed5	UTSW	5	129,932,039 (GRCm39)	missense	possibly damaging	0.66
R3053:Zbed5	UTSW	5	129,930,987 (GRCm39)	missense	possibly damaging	0.66
R3701:Zbed5	UTSW	5	129,932,000 (GRCm39)	missense	possibly damaging	0.90
R3702:Zbed5	UTSW	5	129,932,000 (GRCm39)	missense	possibly damaging	0.90
R3916:Zbed5	UTSW	5	129,931,118 (GRCm39)	missense	possibly damaging	0.92
R3917:Zbed5	UTSW	5	129,931,118 (GRCm39)	missense	possibly damaging	0.92
R4547:Zbed5	UTSW	5	129,931,692 (GRCm39)	nonsense	probably null
R4548:Zbed5	UTSW	5	129,931,692 (GRCm39)	nonsense	probably null
R5500:Zbed5	UTSW	5	129,930,823 (GRCm39)	nonsense	probably null
R5813:Zbed5	UTSW	5	129,931,059 (GRCm39)	missense	possibly damaging	0.46
R6377:Zbed5	UTSW	5	129,932,210 (GRCm39)	missense	possibly damaging	0.83
R6620:Zbed5	UTSW	5	129,932,130 (GRCm39)	missense	possibly damaging	0.82
R6862:Zbed5	UTSW	5	129,932,026 (GRCm39)	missense	probably benign
R6931:Zbed5	UTSW	5	129,932,170 (GRCm39)	nonsense	probably null
R7223:Zbed5	UTSW	5	129,929,279 (GRCm39)	missense	probably damaging	1.00
R7831:Zbed5	UTSW	5	129,930,798 (GRCm39)	missense	possibly damaging	0.82
R7918:Zbed5	UTSW	5	129,930,504 (GRCm39)	missense	possibly damaging	0.46
R7982:Zbed5	UTSW	5	129,929,321 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- AGGCCAGTGGATCATGGAGA -3'
(R):5'- ACATCAAGGGCAGTAGCTGTC -3'

Sequencing Primer
(F):5'- GCCATTTTGAGAGCAAGCATTCC -3'
(R):5'- CCTTTCAAGAGGTTTGCAGCAAAG -3'

Posted On

2016-07-06