Mutagenetix > Incidental Mutation

Incidental Mutation 'R4631:Zbed6'

349164

Institutional Source

Beutler Lab

Gene Symbol

Zbed6

Ensembl Gene

ENSMUSG00000102049

Gene Name

zinc finger, BED type containing 6

Synonyms

Gm38394, similar to Zinc finger BED domain containing protein 4, MGR, Gm8466

MMRRC Submission

041896-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R4631 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133547678-133589056 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 133586482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 285 (V285E)

Ref Sequence

ENSEMBL: ENSMUSP00000140892 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027736] [ENSMUST00000179598] [ENSMUST00000186476] [ENSMUST00000190574] [ENSMUST00000191896] [ENSMUST00000194668] [ENSMUST00000195424] [ENSMUST00000193504] [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: V285E

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

SMART Domains

Protein: ENSMUSP00000136026
Gene: ENSMUSG00000094410
AA Change: V285E

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: V285E

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

SMART Domains

Protein: ENSMUSP00000139417
Gene: ENSMUSG00000094410
AA Change: V285E

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: V285E

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

SMART Domains

Protein: ENSMUSP00000140892
Gene: ENSMUSG00000102049
AA Change: V285E

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: ENSMUST00000192775

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192148

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: 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: ENSMUST00000195067

Meta Mutation Damage Score

0.3799

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (84/84)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,165,270 (GRCm39)	L368Q	probably damaging	Het
Abcc2	C	T	19: 43,803,146 (GRCm39)	P661S	possibly damaging	Het
Adgre4	T	G	17: 56,121,305 (GRCm39)	M457R	probably null	Het
Ank	C	A	15: 27,467,176 (GRCm39)	F29L	probably benign	Het
Arhgap20	T	C	9: 51,751,653 (GRCm39)		probably benign	Het
Atf6	T	C	1: 170,574,766 (GRCm39)		probably null	Het
Bhmt1b	G	A	18: 87,774,525 (GRCm39)	R16H	probably damaging	Het
Bod1l	A	G	5: 41,975,078 (GRCm39)	F2079L	probably damaging	Het
Cd163	T	C	6: 124,306,045 (GRCm39)	*1122Q	probably null	Het
Ces2g	T	C	8: 105,694,094 (GRCm39)		probably null	Het
Cntnap3	A	G	13: 64,926,697 (GRCm39)	Y558H	probably benign	Het
Ctsm	T	A	13: 61,685,510 (GRCm39)	S301C	probably null	Het
Dlc1	A	C	8: 37,404,712 (GRCm39)		probably null	Het
Dlg2	A	T	7: 91,737,822 (GRCm39)	I435F	probably damaging	Het
Dnah5	T	A	15: 28,420,140 (GRCm39)	Y3813N	probably damaging	Het
Dnah5	T	C	15: 28,402,099 (GRCm39)	V3420A	probably damaging	Het
Dnajc13	A	G	9: 104,067,616 (GRCm39)	M1181T	probably damaging	Het
Drc3	C	A	11: 60,255,734 (GRCm39)	T107N	probably benign	Het
Dydc2	T	C	14: 40,771,286 (GRCm39)	E131G	probably benign	Het
Eif5b	T	C	1: 38,080,828 (GRCm39)	V723A	probably damaging	Het
Fndc9	C	A	11: 46,128,675 (GRCm39)	H65N	possibly damaging	Het
Fzd1	A	T	5: 4,805,865 (GRCm39)	Y572*	probably null	Het
Gps1	T	A	11: 120,679,065 (GRCm39)		probably null	Het
Gvin3	A	G	7: 106,198,730 (GRCm39)		noncoding transcript	Het
Kazn	G	A	4: 141,845,471 (GRCm39)		probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnip1	T	A	11: 33,942,821 (GRCm39)		noncoding transcript	Het
Kif19a	A	G	11: 114,675,673 (GRCm39)	I382V	possibly damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Malsu1	A	T	6: 49,061,467 (GRCm39)	E177V	probably damaging	Het
Man2a2	A	G	7: 80,012,211 (GRCm39)	F649L	probably benign	Het
Map3k11	A	G	19: 5,740,941 (GRCm39)	I223V	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Myh9	T	G	15: 77,681,228 (GRCm39)	D164A	probably damaging	Het
Myo16	T	C	8: 10,556,984 (GRCm39)	I1040T	probably damaging	Het
Myo18b	C	T	5: 112,994,266 (GRCm39)	A896T	probably damaging	Het
Myocd	G	T	11: 65,069,685 (GRCm39)	N798K	probably benign	Het
Or13c7b	T	C	4: 43,820,563 (GRCm39)	D266G	probably benign	Het
Or1n1b	T	G	2: 36,780,630 (GRCm39)	T77P	probably benign	Het
Or2l13b	G	A	16: 19,348,891 (GRCm39)	R260*	probably null	Het
Or4c11	C	T	2: 88,695,174 (GRCm39)	T75I	probably benign	Het
Or4g7	T	A	2: 111,309,908 (GRCm39)	W260R	probably damaging	Het
Or52a5	A	T	7: 103,426,682 (GRCm39)	L290Q	probably damaging	Het
Or5b105	T	A	19: 13,080,636 (GRCm39)	I11F	probably benign	Het
Pcdh18	T	A	3: 49,710,890 (GRCm39)	I142F	probably damaging	Het
Pcyox1	T	C	6: 86,366,212 (GRCm39)	E334G	possibly damaging	Het
Pcyox1	T	C	6: 86,366,125 (GRCm39)	D363G	probably benign	Het
Pgm2	A	G	5: 64,263,290 (GRCm39)		probably null	Het
Plagl1	T	G	10: 13,003,743 (GRCm39)		probably benign	Het
Ppp1r9a	A	G	6: 4,906,537 (GRCm39)	D364G	possibly damaging	Het
Rab2b	T	A	14: 52,503,699 (GRCm39)	H141L	possibly damaging	Het
Rev3l	A	G	10: 39,704,412 (GRCm39)	K279E	probably benign	Het
Rnf111	G	T	9: 70,357,678 (GRCm39)	T607N	probably benign	Het
Scn8a	C	A	15: 100,914,384 (GRCm39)	S1130*	probably null	Het
Selenbp1	A	G	3: 94,851,879 (GRCm39)	*473W	probably null	Het
Sh3bp4	A	C	1: 89,071,995 (GRCm39)	D281A	probably damaging	Het
Skint5	T	A	4: 113,486,314 (GRCm39)		probably null	Het
Slc1a4	A	G	11: 20,258,452 (GRCm39)	L249P	probably damaging	Het
Slc45a2	T	A	15: 11,012,662 (GRCm39)	S222T	probably benign	Het
Slc7a4	A	G	16: 17,392,255 (GRCm39)	F393S	probably damaging	Het
Slc9a2	A	T	1: 40,801,078 (GRCm39)	D536V	possibly damaging	Het
Stra6	T	A	9: 58,048,115 (GRCm39)		probably benign	Het
Tmem145	A	G	7: 25,007,250 (GRCm39)	D156G	probably benign	Het
Tns3	A	C	11: 8,401,119 (GRCm39)	F1060V	probably benign	Het
Trak1	G	A	9: 121,283,491 (GRCm39)	R419Q	probably benign	Het
Trappc8	A	G	18: 21,000,865 (GRCm39)	S273P	probably benign	Het
Trmt11	A	G	10: 30,435,200 (GRCm39)	S320P	probably benign	Het
Ugt1a6a	A	T	1: 88,066,980 (GRCm39)	Y262F	probably benign	Het
Vmn1r73	G	A	7: 11,490,758 (GRCm39)	C192Y	probably benign	Het
Vmn2r103	T	C	17: 20,013,958 (GRCm39)	I250T	probably benign	Het
Vmn2r25	T	A	6: 123,829,962 (GRCm39)	D63V	possibly damaging	Het
Vps13b	C	T	15: 35,646,278 (GRCm39)	H1461Y	possibly damaging	Het
Ythdc2	A	T	18: 45,020,698 (GRCm39)	E1427D	probably benign	Het
Zbtb26	A	G	2: 37,326,968 (GRCm39)	F23L	probably benign	Het
Zfp62	T	A	11: 49,108,632 (GRCm39)	*908R	probably null	Het
Zfp975	A	T	7: 42,312,369 (GRCm39)	N81K	probably benign	Het
Zkscan16	G	A	4: 58,951,918 (GRCm39)	V198M	probably damaging	Het

Other mutations in Zbed6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Zbed6	APN	1	133,585,114 (GRCm39)	missense	probably damaging	1.00
IGL01720:Zbed6	APN	1	133,585,264 (GRCm39)	missense	possibly damaging	0.82
IGL02320:Zbed6	APN	1	133,585,411 (GRCm39)	missense	probably damaging	0.97
R0385:Zbed6	UTSW	1	133,584,522 (GRCm39)	missense	probably damaging	0.99
R0417:Zbed6	UTSW	1	133,586,276 (GRCm39)	missense	probably benign
R0526:Zbed6	UTSW	1	133,586,472 (GRCm39)	missense	probably damaging	0.99
R0576:Zbed6	UTSW	1	133,585,576 (GRCm39)	missense	probably benign	0.37
R1164:Zbed6	UTSW	1	133,586,941 (GRCm39)	missense	probably damaging	1.00
R1187:Zbed6	UTSW	1	133,586,941 (GRCm39)	missense	probably damaging	1.00
R1415:Zbed6	UTSW	1	133,585,556 (GRCm39)	missense	possibly damaging	0.80
R1997:Zbed6	UTSW	1	133,584,451 (GRCm39)	missense	probably damaging	1.00
R2186:Zbed6	UTSW	1	133,585,817 (GRCm39)	missense	probably damaging	1.00
R2875:Zbed6	UTSW	1	133,584,598 (GRCm39)	missense	probably damaging	1.00
R2876:Zbed6	UTSW	1	133,584,598 (GRCm39)	missense	probably damaging	1.00
R2975:Zbed6	UTSW	1	133,585,975 (GRCm39)	missense	probably damaging	0.99
R4573:Zbed6	UTSW	1	133,587,127 (GRCm39)	missense	probably benign	0.00
R4671:Zbed6	UTSW	1	133,584,778 (GRCm39)	missense	probably benign
R4976:Zbed6	UTSW	1	133,585,832 (GRCm39)	missense	probably benign	0.27
R5048:Zbed6	UTSW	1	133,586,462 (GRCm39)	missense	probably damaging	0.99
R5318:Zbed6	UTSW	1	133,585,853 (GRCm39)	missense	possibly damaging	0.86
R5400:Zbed6	UTSW	1	133,585,879 (GRCm39)	missense	probably damaging	1.00
R5427:Zbed6	UTSW	1	133,585,333 (GRCm39)	missense	possibly damaging	0.83
R6530:Zbed6	UTSW	1	133,586,939 (GRCm39)	missense	probably damaging	1.00
R7511:Zbed6	UTSW	1	133,586,981 (GRCm39)	missense	probably benign	0.30
R8215:Zbed6	UTSW	1	133,586,530 (GRCm39)	missense	probably damaging	1.00
R8529:Zbed6	UTSW	1	133,584,706 (GRCm39)	missense	probably benign	0.00
R8685:Zbed6	UTSW	1	133,584,754 (GRCm39)	nonsense	probably null
R9414:Zbed6	UTSW	1	133,585,015 (GRCm39)	missense	probably damaging	1.00
R9429:Zbed6	UTSW	1	133,585,453 (GRCm39)	missense	probably damaging	0.99
Z1177:Zbed6	UTSW	1	133,586,854 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGAGATCACTGCTCTCTGTTTC -3'
(R):5'- CTCCTGGAAGCAATGGAAGC -3'

Sequencing Primer
(F):5'- AGATCACTGCTCTCTGTTTCAGTCTC -3'
(R):5'- GGAAGCTTTGAGTATATTCCTACTG -3'

Posted On

2015-10-08