Mutagenetix > Incidental Mutation

Incidental Mutation 'R6377:Zbed5'

515040

Institutional Source

Beutler Lab

Gene Symbol

Zbed5

Ensembl Gene

ENSMUSG00000034173

Gene Name

zinc finger BED-type containing 5

Synonyms

2410018M08Rik, Chchd2l, Zbed5

MMRRC Submission

044527-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6377 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129924564-129932464 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129932210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 720 (S720P)

Ref Sequence

ENSEMBL: ENSMUSP00000044533 (fasta)

Gene Model

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

AlphaFold

B2RPU8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041466
AA Change: S720P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044533
Gene: ENSMUSG00000034173
AA Change: S720P

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

94% (59/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankib1	A	G	5: 3,743,855 (GRCm39)	S812P	possibly damaging	Het
Atp2c2	A	G	8: 120,453,093 (GRCm39)	E159G	probably benign	Het
Atrn	A	G	2: 130,821,889 (GRCm39)	I861V	probably damaging	Het
Clip1	A	G	5: 123,741,717 (GRCm39)	V1053A	possibly damaging	Het
Cngb1	C	A	8: 95,975,608 (GRCm39)	G629C	probably damaging	Het
Cntn5	A	T	9: 9,743,657 (GRCm39)	F540Y	probably damaging	Het
Cpb1	A	C	3: 20,329,748 (GRCm39)		probably null	Het
Cyp4a14	A	G	4: 115,353,280 (GRCm39)	Y11H	probably benign	Het
Dact2	A	G	17: 14,419,450 (GRCm39)	S103P	probably damaging	Het
Dcstamp	A	T	15: 39,618,317 (GRCm39)	Y242F	probably benign	Het
Drd3	G	T	16: 43,641,670 (GRCm39)	G329*	probably null	Het
Duxf1	T	C	10: 58,059,494 (GRCm39)		probably benign	Het
Dysf	T	A	6: 83,985,945 (GRCm39)	S17T	probably benign	Het
Eno1	A	T	4: 150,333,009 (GRCm39)	K366N	possibly damaging	Het
Ffar2	C	T	7: 30,518,971 (GRCm39)	V190I	probably benign	Het
Fkbp15	T	C	4: 62,242,429 (GRCm39)	T508A	probably damaging	Het
Fndc1	A	G	17: 7,988,567 (GRCm39)	V1165A	unknown	Het
Foxj3	A	T	4: 119,430,945 (GRCm39)		probably null	Het
Gabarap	T	C	11: 69,882,630 (GRCm39)		probably null	Het
Gm19410	T	A	8: 36,270,736 (GRCm39)	L1221*	probably null	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Igf1r	A	T	7: 67,850,998 (GRCm39)	Y931F	probably benign	Het
Il23r	A	T	6: 67,400,636 (GRCm39)	S565T	probably damaging	Het
Ipo8	A	T	6: 148,717,995 (GRCm39)	Y209*	probably null	Het
Jph2	C	T	2: 163,181,632 (GRCm39)	G511R	probably benign	Het
Khdrbs1	C	A	4: 129,635,890 (GRCm39)	D22Y	probably damaging	Het
Kif5b	A	T	18: 6,212,562 (GRCm39)	L754Q	probably damaging	Het
Ksr1	C	T	11: 78,927,320 (GRCm39)		probably null	Het
L3mbtl4	G	T	17: 69,084,918 (GRCm39)	V610F	probably benign	Het
Lars2	A	G	9: 123,283,825 (GRCm39)	T698A	probably benign	Het
Lonp1	A	G	17: 56,928,961 (GRCm39)	V267A	possibly damaging	Het
Loxhd1	T	A	18: 77,468,128 (GRCm39)	D925E	probably damaging	Het
Lsg1	A	G	16: 30,393,386 (GRCm39)	L187P	possibly damaging	Het
Mki67	A	T	7: 135,298,050 (GRCm39)	V2328E	possibly damaging	Het
Mlh3	A	G	12: 85,315,271 (GRCm39)	I305T	probably damaging	Het
Mtbp	A	G	15: 55,421,016 (GRCm39)	M1V	probably null	Het
Myadml2	C	A	11: 120,538,538 (GRCm39)	C99F	probably benign	Het
Ncbp1	A	G	4: 46,150,703 (GRCm39)	Y185C	probably damaging	Het
Ndufaf7	A	T	17: 79,250,739 (GRCm39)	Q222L	probably null	Het
Nlrp4b	A	T	7: 10,449,339 (GRCm39)	Y147F	probably benign	Het
Or4c11c	C	T	2: 88,661,613 (GRCm39)	R51*	probably null	Het
Pet100	T	C	8: 3,672,370 (GRCm39)	V15A	probably benign	Het
Pot1a	A	G	6: 25,778,869 (GRCm39)	V75A	probably benign	Het
Ptprs	A	T	17: 56,725,935 (GRCm39)	M1043K	probably damaging	Het
Rnf31	A	G	14: 55,832,984 (GRCm39)	T413A	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Rubcnl	A	T	14: 75,287,635 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,462,530 (GRCm39)	C4839S	probably damaging	Het
Scai	A	C	2: 38,992,340 (GRCm39)	D379E	probably benign	Het
Scd2	G	T	19: 44,288,198 (GRCm39)	G197*	probably null	Het
Sdr39u1	A	C	14: 56,135,166 (GRCm39)	I259S	probably benign	Het
Slco1a5	A	T	6: 142,187,906 (GRCm39)		probably null	Het
Sp1	A	T	15: 102,339,318 (GRCm39)	T733S	probably benign	Het
Tecta	A	G	9: 42,255,051 (GRCm39)	S1711P	probably damaging	Het
Tedc1	G	T	12: 113,124,975 (GRCm39)	W240L	probably damaging	Het
Trarg1	T	C	11: 76,571,355 (GRCm39)	S124P	probably damaging	Het
Trim50	A	G	5: 135,382,454 (GRCm39)	K102R	probably benign	Het
Utrn	A	G	10: 12,619,827 (GRCm39)	Y278H	probably damaging	Het
Vinac1	T	A	2: 128,878,731 (GRCm39)	D1065V	unknown	Het
Vmn2r109	A	C	17: 20,784,796 (GRCm39)		probably null	Het
Zc3h3	A	G	15: 75,711,304 (GRCm39)	S386P	probably damaging	Het
Zscan4-ps1	C	T	7: 10,802,418 (GRCm39)		probably null	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
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
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'- TGCGCAAGAAGATTTCACCAG -3'
(R):5'- AGATTTTGTCTTGAAGCACGG -3'

Sequencing Primer
(F):5'- GCGCAAGAAGATTTCACCAGACTTAC -3'
(R):5'- TTGAAGCACGGTGTGGCAC -3'

Posted On

2018-05-04