Mutagenetix > Incidental Mutation

Incidental Mutation 'R6931:Zbed5'

540016

Institutional Source

Beutler Lab

Gene Symbol

Zbed5

Ensembl Gene

ENSMUSG00000034173

Gene Name

zinc finger, BED type containing 5

Synonyms

2410018M08Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6931 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129895723-129903623 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 129903329 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 706 (Y706*)

Ref Sequence

ENSEMBL: ENSMUSP00000044533 (fasta)

Gene Model

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

AlphaFold

B2RPU8

Predicted Effect

probably null
Transcript: ENSMUST00000041466
AA Change: Y706*

SMART Domains

Protein: ENSMUSP00000044533
Gene: ENSMUSG00000034173
AA Change: Y706*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

99% (77/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	C	6: 96,165,548	T172A	possibly damaging	Het
2310003L06Rik	T	A	5: 87,970,702	I15N	probably damaging	Het
2900092C05Rik	T	A	7: 12,512,596	S6R	unknown	Het
Abca6	T	A	11: 110,244,328	L210F	probably benign	Het
Abcc4	T	C	14: 118,527,988	Q919R	probably damaging	Het
Adcy1	A	G	11: 7,150,884	D811G	possibly damaging	Het
Akna	A	G	4: 63,387,102	S476P	probably benign	Het
Ankrd49	T	C	9: 14,782,826	N15S	probably benign	Het
Apcdd1	A	G	18: 62,933,908	D31G	probably damaging	Het
Aplp1	G	T	7: 30,443,200	R106S	probably damaging	Het
Arhgap40	T	C	2: 158,531,218	L132S	probably benign	Het
Atp8b5	G	T	4: 43,364,108		probably null	Het
Axl	T	C	7: 25,761,433	D717G	probably damaging	Het
Bub1	T	A	2: 127,801,382	D1014V	probably damaging	Het
Cacna2d4	T	A	6: 119,282,234	V603E	possibly damaging	Het
Cnot11	G	C	1: 39,539,921	C289S	probably damaging	Het
Coasy	A	G	11: 101,083,581	H191R	probably benign	Het
Cyp11a1	A	T	9: 58,025,120	N341Y	possibly damaging	Het
Cyp1a2	T	C	9: 57,682,156	N125S	probably benign	Het
Cyp2j8	A	T	4: 96,444,781		probably null	Het
Dnah9	A	T	11: 66,117,626	I791K	possibly damaging	Het
Ecm2	A	T	13: 49,529,011	Q505H	probably benign	Het
Fam135a	T	A	1: 24,085,487	M1L	probably damaging	Het
Fam171a2	A	G	11: 102,438,434	S500P	possibly damaging	Het
Fat3	A	G	9: 15,959,942	S3718P	possibly damaging	Het
Frem1	G	A	4: 82,970,677	P1085S	probably damaging	Het
Gcfc2	A	G	6: 81,942,985	I390V	probably benign	Het
Gemin4	A	G	11: 76,210,956	L993P	probably damaging	Het
Ggnbp2	T	A	11: 84,833,167	D647V	probably damaging	Het
Gm7534	A	T	4: 134,193,153	M567K	probably benign	Het
Gpr84	A	C	15: 103,309,014	L212R	probably damaging	Het
Hnrnpu	T	C	1: 178,331,432		probably benign	Het
Hspg2	G	T	4: 137,540,720	C2116F	probably damaging	Het
Icam4	T	A	9: 21,030,451	V249E	probably damaging	Het
Itga1	T	C	13: 115,001,563	N429D	probably benign	Het
Kcns1	T	C	2: 164,164,838	T402A	probably damaging	Het
Ky	T	A	9: 102,537,627	V246E	probably damaging	Het
March1	A	G	8: 66,468,492	T529A	probably benign	Het
Med18	C	G	4: 132,459,883	V102L	probably damaging	Het
Mlst8	T	C	17: 24,477,275	D160G	probably damaging	Het
Mthfd1	T	C	12: 76,303,698	I470T	probably benign	Het
Muc1	C	T	3: 89,229,159		probably benign	Het
Mup8	G	A	4: 60,220,322	L137F	probably damaging	Het
Mybpc1	A	T	10: 88,542,330	L341*	probably null	Het
Nacad	A	G	11: 6,601,877	F438S	probably benign	Het
Necap2	C	A	4: 141,078,212		probably null	Het
Nifk	T	C	1: 118,332,348	L163S	possibly damaging	Het
Npsr1	A	G	9: 24,289,997	I73V	probably benign	Het
Olfr1179	G	A	2: 88,402,064	T290I	probably benign	Het
Olfr1186	T	A	2: 88,526,194	C204S	possibly damaging	Het
Olfr142	A	T	2: 90,252,777	C70*	probably null	Het
Olfr715	A	G	7: 107,128,901	L164P	probably damaging	Het
Oog3	C	T	4: 144,159,353	C225Y	probably benign	Het
Plagl2	C	A	2: 153,235,943	K39N	probably benign	Het
Plcg2	T	A	8: 117,557,319	D118E	probably benign	Het
Ppp4r3b	A	T	11: 29,211,786	K720I	possibly damaging	Het
Prmt3	A	T	7: 49,829,016	T442S	probably benign	Het
Prr14l	G	A	5: 32,830,691	H487Y	probably damaging	Het
Psmb3	G	A	11: 97,703,971	V63I	probably benign	Het
Psmc6	T	A	14: 45,343,725	I326K	possibly damaging	Het
Ptcd1	T	C	5: 145,155,075	T405A	probably benign	Het
Rbm33	G	A	5: 28,410,745	V29M	probably damaging	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Scarb1	T	A	5: 125,284,719	I107F	probably damaging	Het
Slc39a12	A	G	2: 14,389,375	S19G	probably benign	Het
Slc44a5	T	C	3: 154,258,506	V503A	probably benign	Het
Slc9a9	T	C	9: 94,670,086	S9P	possibly damaging	Het
Snrnp35	A	C	5: 124,490,701	R192S	possibly damaging	Het
Tbx15	T	C	3: 99,352,151	L446P	probably damaging	Het
Tlnrd1	A	G	7: 83,882,597	F209L	probably benign	Het
Tmprss12	C	T	15: 100,285,268	R164C	probably damaging	Het
Tnfsf4	T	A	1: 161,417,073	F111Y	possibly damaging	Het
Trib2	A	T	12: 15,793,639	M198K	probably benign	Het
Ttll8	A	G	15: 88,914,304	S743P	possibly damaging	Het
Ush2a	A	T	1: 188,728,383	N2614Y	probably benign	Het
Usp6nl	G	A	2: 6,430,458	V343I	possibly damaging	Het
Vrtn	C	A	12: 84,650,242	Q589K	probably benign	Het
Zc3h10	A	G	10: 128,544,684	V268A	probably damaging	Het
Zfp442	C	T	2: 150,410,940		probably null	Het

Other mutations in Zbed5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02225:Zbed5	APN	5	129902133	splice site	probably null
IGL03334:Zbed5	APN	5	129902355	missense	possibly damaging	0.66
R0449:Zbed5	UTSW	5	129901726	missense	probably damaging	1.00
R0744:Zbed5	UTSW	5	129902272	missense	possibly damaging	0.92
R0763:Zbed5	UTSW	5	129902179	missense	probably benign	0.00
R1967:Zbed5	UTSW	5	129901669	missense	possibly damaging	0.68
R2246:Zbed5	UTSW	5	129902751	missense	probably benign	0.01
R2925:Zbed5	UTSW	5	129903198	missense	possibly damaging	0.66
R3053:Zbed5	UTSW	5	129902146	missense	possibly damaging	0.66
R3701:Zbed5	UTSW	5	129903159	missense	possibly damaging	0.90
R3702:Zbed5	UTSW	5	129903159	missense	possibly damaging	0.90
R3916:Zbed5	UTSW	5	129902277	missense	possibly damaging	0.92
R3917:Zbed5	UTSW	5	129902277	missense	possibly damaging	0.92
R4547:Zbed5	UTSW	5	129902851	nonsense	probably null
R4548:Zbed5	UTSW	5	129902851	nonsense	probably null
R5195:Zbed5	UTSW	5	129902178	missense	probably benign	0.01
R5500:Zbed5	UTSW	5	129901982	nonsense	probably null
R5813:Zbed5	UTSW	5	129902218	missense	possibly damaging	0.46
R6377:Zbed5	UTSW	5	129903369	missense	possibly damaging	0.83
R6620:Zbed5	UTSW	5	129903289	missense	possibly damaging	0.82
R6862:Zbed5	UTSW	5	129903185	missense	probably benign
R7223:Zbed5	UTSW	5	129900438	missense	probably damaging	1.00
R7831:Zbed5	UTSW	5	129901957	missense	possibly damaging	0.82
R7918:Zbed5	UTSW	5	129901663	missense	possibly damaging	0.46
R7982:Zbed5	UTSW	5	129900480	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- CCGAGATTCCGTTTGCACTC -3'
(R):5'- AACTACACTGCTACATTTCGGG -3'

Sequencing Primer
(F):5'- CCGTTCTCAGTCAAAGCTGAAGATG -3'
(R):5'- CGGGATACTGTTCATAAAAAGCC -3'

Posted On

2018-11-06