Mutagenetix > Incidental Mutation

Incidental Mutation 'R1967:Zbed5'

219050

Institutional Source

Beutler Lab

Gene Symbol

Zbed5

Ensembl Gene

ENSMUSG00000034173

Gene Name

zinc finger BED-type containing 5

Synonyms

2410018M08Rik, Chchd2l, Zbed5

MMRRC Submission

039980-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1967 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129924564-129932464 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129930510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 132 (H132R)

Ref Sequence

ENSEMBL: ENSMUSP00000116455 (fasta)

Gene Model

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

AlphaFold

B2RPU8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041466
AA Change: H153R

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000044533
Gene: ENSMUSG00000034173
AA Change: H153R

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

possibly damaging
Transcript: ENSMUST00000077320
AA Change: H132R

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116455
Gene: ENSMUSG00000034173
AA Change: H132R

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	A	C	15: 37,439,842 (GRCm39)		probably benign	Het
Abca6	T	C	11: 110,077,974 (GRCm39)	I1278V	probably benign	Het
Adamts15	C	T	9: 30,832,605 (GRCm39)	W310*	probably null	Het
Adamts6	T	A	13: 104,563,459 (GRCm39)	C650*	probably null	Het
Akap3	G	T	6: 126,842,061 (GRCm39)	G227C	probably benign	Het
Alox12e	A	T	11: 70,208,682 (GRCm39)	S457T	probably benign	Het
Angpt1	C	A	15: 42,301,703 (GRCm39)	C435F	probably damaging	Het
Anxa9	T	C	3: 95,207,919 (GRCm39)	Q207R	probably benign	Het
Aplnr	A	T	2: 84,967,950 (GRCm39)	D325V	probably benign	Het
Art2b	A	C	7: 101,229,414 (GRCm39)	F162V	probably damaging	Het
Atp13a4	A	G	16: 29,298,672 (GRCm39)	S96P	probably damaging	Het
Bnc1	A	T	7: 81,623,384 (GRCm39)	H614Q	probably benign	Het
C6	A	G	15: 4,789,302 (GRCm39)	D249G	probably damaging	Het
Camta1	A	T	4: 151,173,430 (GRCm39)	F977I	probably damaging	Het
Chil6	T	C	3: 106,298,470 (GRCm39)	S188G	possibly damaging	Het
Cntrob	A	T	11: 69,211,789 (GRCm39)	L145Q	probably damaging	Het
Coro7	T	C	16: 4,452,753 (GRCm39)	E306G	probably damaging	Het
Cplane1	T	G	15: 8,232,904 (GRCm39)	V1141G	probably benign	Het
Cpq	T	C	15: 33,497,348 (GRCm39)	S363P	possibly damaging	Het
Ctc1	A	G	11: 68,918,688 (GRCm39)		probably null	Het
Defb43	T	A	14: 63,255,246 (GRCm39)	N26K	probably benign	Het
Dennd1a	T	C	2: 37,734,845 (GRCm39)	T41A	probably benign	Het
Dnah11	A	C	12: 117,880,523 (GRCm39)	Y3866D	probably damaging	Het
Eml6	A	G	11: 29,974,545 (GRCm39)	L11P	probably damaging	Het
Epha5	A	G	5: 84,564,288 (GRCm39)	V26A	probably benign	Het
Fam13c	A	G	10: 70,387,565 (GRCm39)	D443G	probably damaging	Het
Fam227a	G	A	15: 79,521,335 (GRCm39)	L243F	possibly damaging	Het
Fat3	T	G	9: 15,879,591 (GRCm39)	R3301S	probably benign	Het
Fbxw20	T	C	9: 109,046,578 (GRCm39)	T461A	probably benign	Het
Fgf8	T	A	19: 45,730,007 (GRCm39)	S61C	probably damaging	Het
Fgfrl1	A	G	5: 108,852,871 (GRCm39)	E100G	probably damaging	Het
Gabra4	G	A	5: 71,729,412 (GRCm39)	S456F	possibly damaging	Het
Gas6	T	C	8: 13,520,317 (GRCm39)	E457G	probably damaging	Het
Gpr33	G	A	12: 52,070,991 (GRCm39)	S16L	probably benign	Het
Greb1l	A	C	18: 10,501,049 (GRCm39)	N393T	possibly damaging	Het
Gtpbp4	T	C	13: 9,027,340 (GRCm39)	K492E	probably benign	Het
Hsf2bp	A	T	17: 32,206,378 (GRCm39)	L251*	probably null	Het
Hyal5	A	T	6: 24,876,193 (GRCm39)	Q22L	possibly damaging	Het
Itih1	A	T	14: 30,663,941 (GRCm39)	V114E	possibly damaging	Het
Jak3	T	A	8: 72,134,179 (GRCm39)	I427N	probably damaging	Het
Jcad	T	C	18: 4,675,162 (GRCm39)	S975P	probably benign	Het
Kcng4	A	G	8: 120,359,662 (GRCm39)	V238A	probably damaging	Het
Klb	A	G	5: 65,529,417 (GRCm39)	D315G	probably damaging	Het
Klrh1	A	T	6: 129,752,798 (GRCm39)	N2K	possibly damaging	Het
Krt5	T	C	15: 101,620,094 (GRCm39)	N208D	probably benign	Het
Lmo7	T	A	14: 102,137,651 (GRCm39)	H551Q	probably benign	Het
Lrp8	G	T	4: 107,717,168 (GRCm39)	G732V	probably damaging	Het
Lrrc38	A	G	4: 143,096,553 (GRCm39)	D288G	unknown	Het
Lrrc4b	GAGAAG	GAG	7: 44,111,654 (GRCm39)		probably benign	Het
Mas1	A	G	17: 13,060,923 (GRCm39)	Y167H	probably benign	Het
Mcm8	A	C	2: 132,684,662 (GRCm39)	I759L	probably benign	Het
Med13l	G	A	5: 118,899,387 (GRCm39)	D2148N	probably damaging	Het
Muc20	A	T	16: 32,614,612 (GRCm39)	I255K	probably benign	Het
Myh1	A	G	11: 67,104,273 (GRCm39)	N980S	probably benign	Het
Nap1l4	T	A	7: 143,088,024 (GRCm39)	Q178L	probably damaging	Het
Ncapg	T	A	5: 45,857,252 (GRCm39)	L988Q	probably damaging	Het
Ncf2	A	T	1: 152,706,123 (GRCm39)	H245L	probably damaging	Het
Neurl4	A	G	11: 69,794,036 (GRCm39)	E164G	possibly damaging	Het
Nf1	G	A	11: 79,303,571 (GRCm39)	R416H	probably damaging	Het
Obscn	G	A	11: 59,026,535 (GRCm39)	Q223*	probably null	Het
Or10q1	T	A	19: 13,727,417 (GRCm39)	*316R	probably null	Het
Or2o1	T	C	11: 49,051,675 (GRCm39)	I278T	probably benign	Het
Pcdhb16	T	A	18: 37,612,715 (GRCm39)	N558K	probably damaging	Het
Pcnx2	A	T	8: 126,542,422 (GRCm39)	M1253K	possibly damaging	Het
Pla2g4a	A	G	1: 149,797,832 (GRCm39)	V22A	probably damaging	Het
Plppr5	G	A	3: 117,419,555 (GRCm39)		probably null	Het
Pnpla2	T	C	7: 141,039,345 (GRCm39)	S353P	probably benign	Het
Pom121	A	T	5: 135,420,608 (GRCm39)	L271Q	unknown	Het
Prepl	A	T	17: 85,395,979 (GRCm39)	M1K	probably null	Het
Prr14l	A	G	5: 33,001,813 (GRCm39)		probably benign	Het
Psmc3	C	A	2: 90,888,189 (GRCm39)	P325T	probably benign	Het
Psme2b	A	G	11: 48,836,896 (GRCm39)	V17A	probably damaging	Het
Ptpro	A	G	6: 137,393,863 (GRCm39)	I23V	probably benign	Het
Rab31	A	G	17: 66,079,499 (GRCm39)		probably null	Het
Ranbp6	T	A	19: 29,789,900 (GRCm39)	K151*	probably null	Het
Rbm12b1	A	T	4: 12,146,304 (GRCm39)	I759L	probably benign	Het
Rgs5	T	C	1: 169,504,425 (GRCm39)	I25T	probably benign	Het
Rnf213	T	C	11: 119,371,721 (GRCm39)	V4842A	probably damaging	Het
Rtl9	A	T	X: 141,886,037 (GRCm39)	I1150F	probably damaging	Het
Scn1a	A	T	2: 66,158,769 (GRCm39)	W384R	probably damaging	Het
Sema5a	C	T	15: 32,681,765 (GRCm39)	P948L	probably damaging	Het
Slc26a3	G	A	12: 31,515,777 (GRCm39)	R559Q	probably damaging	Het
Slc29a3	A	G	10: 60,552,243 (GRCm39)	V267A	probably benign	Het
Spata22	A	G	11: 73,221,953 (GRCm39)		probably benign	Het
Spata31e2	T	A	1: 26,722,454 (GRCm39)	I909L	probably benign	Het
Sptbn2	G	T	19: 4,795,327 (GRCm39)	R1595L	probably benign	Het
Tfdp1	T	C	8: 13,423,039 (GRCm39)	S315P	possibly damaging	Het
Tle1	A	T	4: 72,038,463 (GRCm39)	V688E	probably damaging	Het
Tmem129	A	T	5: 33,812,665 (GRCm39)		probably null	Het
Tmprss11a	G	A	5: 86,579,702 (GRCm39)	T91I	probably benign	Het
Tnfsf14	A	G	17: 57,497,807 (GRCm39)	Y142H	probably damaging	Het
Tph1	T	C	7: 46,311,538 (GRCm39)	D68G	probably benign	Het
Ttn	A	T	2: 76,592,631 (GRCm39)	S12507T	probably damaging	Het
Tubgcp2	T	A	7: 139,586,066 (GRCm39)	M408L	probably benign	Het
Usp34	A	T	11: 23,314,503 (GRCm39)	H815L	probably benign	Het
Usp6nl	G	A	2: 6,446,330 (GRCm39)	R746H	probably benign	Het
Utp20	A	G	10: 88,652,841 (GRCm39)	S358P	probably benign	Het
Vmn2r118	G	A	17: 55,899,882 (GRCm39)	T674I	probably damaging	Het
Vmn2r8	A	T	5: 108,950,249 (GRCm39)	H199Q	probably benign	Het
Vmn2r9	A	G	5: 108,995,388 (GRCm39)	V420A	probably benign	Het
Vmn2r99	A	T	17: 19,599,077 (GRCm39)	T254S	probably benign	Het
Zfp568	A	G	7: 29,688,513 (GRCm39)	E25G	probably damaging	Het
Zfp951	T	A	5: 104,964,866 (GRCm39)	I67L	possibly 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
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
R5195:Zbed5	UTSW	5	129,931,019 (GRCm39)	missense	probably benign	0.01
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'- ATGGTTGCTGAATATTTCTCCCTTG -3'
(R):5'- TGAAATAGTTGGTATCCTTGCCG -3'

Sequencing Primer
(F):5'- CTCCCTTGTGATAATAACAGGTATG -3'
(R):5'- GGAATGCTTGCTCTCAAAATGGC -3'

Posted On

2014-08-25