Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00157:Zbed6'

306552

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zbed6

Ensembl Gene

ENSMUSG00000102049

Gene Name

zinc finger, BED type containing 6

Synonyms

similar to Zinc finger BED domain containing protein 4, MGR, Gm8466

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

IGL00157

Quality Score

Status

Chromosome

Chromosomal Location

133655879-133660885 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 133657376 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 741 (A741D)

Ref Sequence

ENSEMBL: ENSMUSP00000140892 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027736] [ENSMUST00000179598] [ENSMUST00000186476] [ENSMUST00000190574] [ENSMUST00000191896] [ENSMUST00000193504] [ENSMUST00000194668] [ENSMUST00000195424] [ENSMUST00000195067]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027736

SMART Domains

Protein: ENSMUSP00000027736
Gene: ENSMUSG00000116275

Domain	Start	End	E-Value	Type
ZnF_C3H1	3	28	4.26e-1	SMART
ZnF_C3H1	31	56	7.62e0	SMART
ZnF_C3H1	60	86	6.83e1	SMART
low complexity region	161	176	N/A	INTRINSIC
low complexity region	218	241	N/A	INTRINSIC
low complexity region	367	376	N/A	INTRINSIC
low complexity region	625	647	N/A	INTRINSIC
low complexity region	717	730	N/A	INTRINSIC
low complexity region	770	788	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000179598
AA Change: A741D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136026
Gene: ENSMUSG00000094410
AA Change: A741D

Domain	Start	End	E-Value	Type
low complexity region	57	84	N/A	INTRINSIC
ZnF_BED	130	183	1.42e-8	SMART
low complexity region	203	215	N/A	INTRINSIC
ZnF_BED	265	318	5.37e-9	SMART
low complexity region	840	862	N/A	INTRINSIC
Pfam:Dimer_Tnp_hAT	869	950	9.3e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000186476
AA Change: A741D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139417
Gene: ENSMUSG00000094410
AA Change: A741D

Domain	Start	End	E-Value	Type
low complexity region	57	84	N/A	INTRINSIC
ZnF_BED	130	183	1.42e-8	SMART
low complexity region	203	215	N/A	INTRINSIC
ZnF_BED	265	318	5.37e-9	SMART
low complexity region	840	862	N/A	INTRINSIC
Pfam:Dimer_Tnp_hAT	869	950	1.9e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000190574
AA Change: A741D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140892
Gene: ENSMUSG00000102049
AA Change: A741D

Domain	Start	End	E-Value	Type
low complexity region	57	84	N/A	INTRINSIC
ZnF_BED	130	183	1.42e-8	SMART
low complexity region	203	215	N/A	INTRINSIC
ZnF_BED	265	318	5.37e-9	SMART
low complexity region	840	862	N/A	INTRINSIC
Pfam:Dimer_Tnp_hAT	869	950	1.9e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191705

Predicted Effect

probably benign
Transcript: ENSMUST00000191896

SMART Domains

Protein: ENSMUSP00000141255
Gene: ENSMUSG00000102976

Domain	Start	End	E-Value	Type
ZnF_C3H1	3	28	4.26e-1	SMART
ZnF_C3H1	31	56	7.62e0	SMART
ZnF_C3H1	60	86	6.83e1	SMART
low complexity region	161	176	N/A	INTRINSIC
low complexity region	218	241	N/A	INTRINSIC
low complexity region	367	376	N/A	INTRINSIC
low complexity region	625	647	N/A	INTRINSIC
low complexity region	717	730	N/A	INTRINSIC
low complexity region	770	788	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192107

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192775

Predicted Effect

probably benign
Transcript: ENSMUST00000193504

SMART Domains

Protein: ENSMUSP00000141895
Gene: ENSMUSG00000102976

Domain	Start	End	E-Value	Type
ZnF_C3H1	3	28	1.8e-3	SMART
ZnF_C3H1	31	56	3.2e-2	SMART
Blast:ZnF_C3H1	60	84	2e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000194668

SMART Domains

Protein: ENSMUSP00000141727
Gene: ENSMUSG00000102976

Domain	Start	End	E-Value	Type
ZnF_C3H1	3	28	1.8e-3	SMART
ZnF_C3H1	31	56	3.2e-2	SMART
ZnF_C3H1	60	86	2.9e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195424

SMART Domains

Protein: ENSMUSP00000142066
Gene: ENSMUSG00000102976

Domain	Start	End	E-Value	Type
ZnF_C3H1	3	28	1.8e-3	SMART
ZnF_C3H1	31	56	3.2e-2	SMART
ZnF_C3H1	60	86	2.9e-1	SMART
low complexity region	161	176	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195067

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this transposon-derived intronless gene is a transcriptional repressor that binds to the consensus sequence 5'-GCTCGC-3'. The encoded protein has been shown to repress IGF2 transcription. This gene is located within the first intron of the ZC3H11A gene. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp4	A	G	7: 44,253,451	V331A	possibly damaging	Het
Casr	C	A	16: 36,495,810	V633F	probably damaging	Het
Cblb	T	G	16: 52,183,307	V716G	probably benign	Het
Cbln2	C	T	18: 86,716,384	Q156*	probably null	Het
Cnn1	G	T	9: 22,099,397	L14F	possibly damaging	Het
D830013O20Rik	T	C	12: 73,364,247		noncoding transcript	Het
Drd1	A	G	13: 54,053,878	S99P	probably damaging	Het
Fam35a	A	G	14: 34,268,625	V108A	probably benign	Het
Fat1	T	C	8: 44,951,670	V486A	possibly damaging	Het
Galnt7	T	C	8: 57,540,039	N416S	probably damaging	Het
Gm10735	T	C	13: 113,041,484		probably benign	Het
Gm8909	A	T	17: 36,165,354		probably null	Het
Jag2	T	C	12: 112,912,718	T790A	probably benign	Het
Klhdc1	T	A	12: 69,242,008	Y31N	possibly damaging	Het
Lama1	A	T	17: 67,815,928	M2769L	probably benign	Het
Mms19	A	G	19: 41,945,457		probably null	Het
Msrb2	C	A	2: 19,394,341	P172T	probably damaging	Het
Olfr228	T	C	2: 86,483,218	S175G	probably benign	Het
Olfr955	A	G	9: 39,470,243	V161A	probably benign	Het
Pcdhb9	T	A	18: 37,403,279	D775E	possibly damaging	Het
Pkhd1	T	C	1: 20,566,874		probably null	Het
Preb	A	T	5: 30,955,964	D375E	probably damaging	Het
Prkdc	T	C	16: 15,697,226	I1010T	probably damaging	Het
Rbp2	A	G	9: 98,498,897		probably null	Het
Sept9	A	G	11: 117,352,184	T66A	probably damaging	Het
Serpinb9b	A	T	13: 33,035,625	E178D	probably benign	Het
Tg	A	G	15: 66,847,166	Y258C	probably damaging	Het
Tmprss7	T	C	16: 45,663,368	R548G	probably benign	Het
Uba7	G	A	9: 107,979,111	A536T	probably benign	Het
Vmn2r114	G	A	17: 23,291,665	P614S	probably damaging	Het
Xpc	A	G	6: 91,492,264		probably benign	Het
Yrdc	T	C	4: 124,853,961	S86P	probably damaging	Het

Other mutations in Zbed6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01720:Zbed6	APN	1	133657526	missense	possibly damaging	0.82
IGL02320:Zbed6	APN	1	133657673	missense	probably damaging	0.97

Posted On

2015-04-16