Mutagenetix > Incidental Mutations

Incidental Mutation 'R6257:Zfp536'

506393

Institutional Source

Beutler Lab

Gene Symbol

Zfp536

Ensembl Gene

ENSMUSG00000043456

Gene Name

zinc finger protein 536

Synonyms

MMRRC Submission

044374-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6257 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37472135-37773641 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37480405 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 925 (D925V)

Ref Sequence

ENSEMBL: ENSMUSP00000135068 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056338] [ENSMUST00000175941] [ENSMUST00000176114] [ENSMUST00000176129] [ENSMUST00000176205]

Predicted Effect

probably damaging
Transcript: ENSMUST00000056338
AA Change: D925V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058468
Gene: ENSMUSG00000043456
AA Change: D925V

Domain	Start	End	E-Value	Type
ZnF_C2H2	130	152	5.14e-3	SMART
ZnF_C2H2	158	180	8.47e-4	SMART
low complexity region	193	205	N/A	INTRINSIC
ZnF_C2H2	274	297	1.03e-2	SMART
ZnF_C2H2	300	323	4.4e-2	SMART
ZnF_C2H2	345	367	3.69e-4	SMART
ZnF_C2H2	373	395	1.26e-2	SMART
ZnF_C2H2	631	653	2.91e-2	SMART
Pfam:zf-C2H2_assoc	657	739	6.6e-43	PFAM
ZnF_C2H2	753	775	6.78e-3	SMART
ZnF_C2H2	781	803	7.26e-3	SMART
low complexity region	928	941	N/A	INTRINSIC
ZnF_C2H2	1002	1025	7.29e0	SMART
low complexity region	1198	1212	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000175941
AA Change: D925V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134778
Gene: ENSMUSG00000043456
AA Change: D925V

Domain	Start	End	E-Value	Type
ZnF_C2H2	130	152	5.14e-3	SMART
ZnF_C2H2	158	180	8.47e-4	SMART
low complexity region	193	205	N/A	INTRINSIC
ZnF_C2H2	274	297	1.03e-2	SMART
ZnF_C2H2	300	323	4.4e-2	SMART
ZnF_C2H2	345	367	3.69e-4	SMART
ZnF_C2H2	373	395	1.26e-2	SMART
ZnF_C2H2	631	653	2.91e-2	SMART
low complexity region	716	725	N/A	INTRINSIC
ZnF_C2H2	753	775	6.78e-3	SMART
ZnF_C2H2	781	803	7.26e-3	SMART
low complexity region	928	941	N/A	INTRINSIC
ZnF_C2H2	1002	1025	7.29e0	SMART
low complexity region	1198	1212	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000176114
AA Change: D925V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135681
Gene: ENSMUSG00000043456
AA Change: D925V

Domain	Start	End	E-Value	Type
ZnF_C2H2	130	152	5.14e-3	SMART
ZnF_C2H2	158	180	8.47e-4	SMART
low complexity region	193	205	N/A	INTRINSIC
ZnF_C2H2	274	297	1.03e-2	SMART
ZnF_C2H2	300	323	4.4e-2	SMART
ZnF_C2H2	345	367	3.69e-4	SMART
ZnF_C2H2	373	395	1.26e-2	SMART
ZnF_C2H2	631	653	2.91e-2	SMART
low complexity region	716	725	N/A	INTRINSIC
ZnF_C2H2	753	775	6.78e-3	SMART
ZnF_C2H2	781	803	7.26e-3	SMART
low complexity region	928	941	N/A	INTRINSIC
ZnF_C2H2	1002	1025	7.29e0	SMART
low complexity region	1198	1212	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176129

SMART Domains

Protein: ENSMUSP00000135234
Gene: ENSMUSG00000043456

Domain	Start	End	E-Value	Type
low complexity region	134	148	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000176205
AA Change: D925V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135068
Gene: ENSMUSG00000043456
AA Change: D925V

Domain	Start	End	E-Value	Type
ZnF_C2H2	130	152	5.14e-3	SMART
ZnF_C2H2	158	180	8.47e-4	SMART
low complexity region	193	205	N/A	INTRINSIC
ZnF_C2H2	274	297	1.03e-2	SMART
ZnF_C2H2	300	323	4.4e-2	SMART
ZnF_C2H2	345	367	3.69e-4	SMART
ZnF_C2H2	373	395	1.26e-2	SMART
ZnF_C2H2	631	653	2.91e-2	SMART
low complexity region	716	725	N/A	INTRINSIC
ZnF_C2H2	753	775	6.78e-3	SMART
ZnF_C2H2	781	803	7.26e-3	SMART
low complexity region	928	941	N/A	INTRINSIC
ZnF_C2H2	1002	1025	7.29e0	SMART
low complexity region	1198	1212	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

97% (74/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a highly conserved zinc finger protein. The encoded protein is most abundant in brain, where it negatively regulates neuronal differentiation. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	T	17: 35,961,182	N313K	probably benign	Het
Adamts2	T	C	11: 50,775,326	V383A	probably damaging	Het
Adamts6	A	T	13: 104,462,282	Q877L	probably benign	Het
Adgre4	C	T	17: 55,802,133	T380I	possibly damaging	Het
Aspm	A	G	1: 139,482,053		probably null	Het
Atg16l2	A	G	7: 101,301,895		probably null	Het
Bcl6b	C	T	11: 70,226,052	R467H	probably benign	Het
Cacna2d4	G	A	6: 119,281,619		probably null	Het
Casp8ap2	A	G	4: 32,641,364	D806G	possibly damaging	Het
Ccdc13	A	G	9: 121,798,909		probably benign	Het
Ccser1	A	G	6: 61,373,962	D501G	probably damaging	Het
Ccser1	A	G	6: 62,379,785	T736A	probably benign	Het
Cd164l2	T	A	4: 133,221,034	C19S	unknown	Het
Cdk15	G	A	1: 59,257,105		probably null	Het
Cebpz	T	C	17: 78,935,832	E131G	probably benign	Het
Ces1d	T	C	8: 93,166,397	D519G	probably benign	Het
Cftr	A	C	6: 18,282,501	T1067P	probably benign	Het
Chd1	T	G	17: 15,730,203		probably null	Het
Chil4	T	A	3: 106,204,096	D234V	possibly damaging	Het
Cldn16	T	A	16: 26,481,330	S173T	probably damaging	Het
Cpd	A	T	11: 76,812,670	F456I	probably benign	Het
Cst8	C	A	2: 148,805,445	A125E	probably damaging	Het
Dars2	G	T	1: 161,041,828	P617Q	probably damaging	Het
Defb26	A	G	2: 152,507,940	V140A	unknown	Het
Dntt	T	G	19: 41,053,062	V395G	probably damaging	Het
Dock10	G	A	1: 80,503,696		probably benign	Het
Dscam	T	C	16: 96,673,714	N1216S	possibly damaging	Het
En1	A	T	1: 120,603,907	D292V	unknown	Het
Erbb4	A	T	1: 68,396,273	L155Q	probably damaging	Het
Erbin	T	C	13: 103,862,288	T197A	probably benign	Het
Fat2	A	G	11: 55,262,581	F3602L	probably benign	Het
Fuk	A	T	8: 110,890,545	C365S	probably benign	Het
Gm3443	A	T	19: 21,555,711	D13V	unknown	Het
Gm6401	T	C	14: 41,967,871	Q10R	probably benign	Het
Gmcl1	G	A	6: 86,700,641	T410I	possibly damaging	Het
Grid2ip	G	A	5: 143,380,429	S379N	probably damaging	Het
H2-T24	T	A	17: 36,014,682	T305S	probably benign	Het
Ksr2	A	T	5: 117,414,844	M6L	probably benign	Het
Lama2	A	G	10: 26,986,899	L2956S	possibly damaging	Het
Lhfpl3	A	G	5: 22,746,559	T123A	probably benign	Het
Lrp1b	T	A	2: 40,596,969		probably null	Het
Ltn1	G	A	16: 87,411,774	A812V	possibly damaging	Het
Maml2	C	T	9: 13,620,426	S312L	probably damaging	Het
Myo7b	T	A	18: 32,013,415	N106Y	probably damaging	Het
Nacc2	A	T	2: 26,060,408	C439S	probably damaging	Het
Ncoa7	A	G	10: 30,694,177	I224T	probably damaging	Het
Nf1	A	T	11: 79,549,491	L2303F	probably damaging	Het
Noc3l	A	T	19: 38,795,905		probably null	Het
Nup155	C	T	15: 8,150,798	R1120*	probably null	Het
Oas3	C	A	5: 120,761,135		probably benign	Het
Ocln	T	C	13: 100,539,509	I159V	probably benign	Het
Olfr315	T	A	11: 58,779,003	V292E	probably damaging	Het
Olfr406	T	C	11: 74,270,007	V206A	probably damaging	Het
Os9	A	C	10: 127,119,137	C181G	probably damaging	Het
Phldb1	C	T	9: 44,696,140	R1256Q	probably damaging	Het
Pkd1l1	G	A	11: 8,942,195	T208I	probably benign	Het
Plppr4	T	C	3: 117,322,579	Q485R	possibly damaging	Het
Prkcb	T	A	7: 122,568,163	D365E	probably benign	Het
Ptprz1	T	A	6: 22,959,640	N45K	probably damaging	Het
Rbl2	T	C	8: 91,115,678	L987P	probably damaging	Het
Runx1	T	A	16: 92,695,911		probably benign	Het
Sept4	C	A	11: 87,590,349	Q372K	probably benign	Het
Slc24a4	A	G	12: 102,254,510	E400G	probably benign	Het
Smtnl2	G	A	11: 72,401,399	A274V	probably damaging	Het
Sri	T	A	5: 8,059,596		probably null	Het
St3gal3	C	T	4: 118,107,678		probably benign	Het
Tfpt	A	T	7: 3,629,567	L3*	probably null	Het
Tgfb3	T	C	12: 86,077,841	D31G	possibly damaging	Het
Thsd7a	G	T	6: 12,408,988	C678*	probably null	Het
Tmbim1	A	G	1: 74,293,066	Y101H	probably damaging	Het
Tmem17	A	G	11: 22,512,297		probably benign	Het
Tmprss15	A	T	16: 78,972,225	V769E	probably damaging	Het
Trak1	C	T	9: 121,446,755	R175C	probably damaging	Het
Trak1	G	T	9: 121,367,224	V41F	possibly damaging	Het
Trim30c	T	C	7: 104,390,168	Y140C	probably damaging	Het
Tubgcp3	A	T	8: 12,649,835		probably null	Het
Ubr7	T	A	12: 102,765,840	C158*	probably null	Het
Vmn2r79	A	T	7: 87,002,570	L392F	probably benign	Het

Other mutations in Zfp536

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01075:Zfp536	APN	7	37567890	missense	probably damaging	0.99
IGL02729:Zfp536	APN	7	37493718	missense	probably damaging	1.00
PIT4453001:Zfp536	UTSW	7	37479757	missense	probably benign	0.08
R0211:Zfp536	UTSW	7	37568449	missense	probably damaging	1.00
R0369:Zfp536	UTSW	7	37567948	missense	probably damaging	1.00
R0504:Zfp536	UTSW	7	37568818	missense	probably damaging	1.00
R0554:Zfp536	UTSW	7	37480819	missense	probably damaging	1.00
R1171:Zfp536	UTSW	7	37569634	missense	probably damaging	1.00
R1462:Zfp536	UTSW	7	37479310	missense	probably damaging	1.00
R1462:Zfp536	UTSW	7	37479310	missense	probably damaging	1.00
R1699:Zfp536	UTSW	7	37569454	missense	probably damaging	1.00
R1817:Zfp536	UTSW	7	37568617	missense	probably damaging	1.00
R1918:Zfp536	UTSW	7	37480199	missense	probably damaging	1.00
R2252:Zfp536	UTSW	7	37479389	missense	probably benign	0.30
R2288:Zfp536	UTSW	7	37480348	missense	probably damaging	0.98
R2509:Zfp536	UTSW	7	37567978	missense	possibly damaging	0.87
R3967:Zfp536	UTSW	7	37473830	makesense	probably null
R4039:Zfp536	UTSW	7	37569550	missense	probably damaging	1.00
R4600:Zfp536	UTSW	7	37568493	missense	probably damaging	1.00
R4706:Zfp536	UTSW	7	37569466	missense	probably damaging	1.00
R4771:Zfp536	UTSW	7	37568884	missense	probably damaging	1.00
R4808:Zfp536	UTSW	7	37479305	missense	probably damaging	1.00
R4945:Zfp536	UTSW	7	37569736	missense	probably damaging	1.00
R5196:Zfp536	UTSW	7	37480760	missense	probably damaging	1.00
R5506:Zfp536	UTSW	7	37568792	missense	probably damaging	1.00
R5816:Zfp536	UTSW	7	37480628	missense	probably damaging	1.00
R6114:Zfp536	UTSW	7	37479736	missense	probably damaging	0.99
R6131:Zfp536	UTSW	7	37569712	missense	probably damaging	1.00
R6156:Zfp536	UTSW	7	37473856	missense	unknown
R6864:Zfp536	UTSW	7	37568515	missense	probably damaging	1.00
R6975:Zfp536	UTSW	7	37568527	missense	probably damaging	1.00
R6976:Zfp536	UTSW	7	37480403	missense	probably damaging	1.00
R7176:Zfp536	UTSW	7	37480851	critical splice acceptor site	probably null
R7247:Zfp536	UTSW	7	37569206	missense	probably benign	0.04
R7325:Zfp536	UTSW	7	37479860	missense	probably benign
R7650:Zfp536	UTSW	7	37569692	missense	probably damaging	1.00
R7782:Zfp536	UTSW	7	37568701	missense	probably damaging	1.00
R7827:Zfp536	UTSW	7	37569688	missense	probably damaging	1.00
R8013:Zfp536	UTSW	7	37569610	missense	probably damaging	1.00
R8209:Zfp536	UTSW	7	37568655	missense	probably benign	0.00
R8504:Zfp536	UTSW	7	37480067	missense	probably benign
X0066:Zfp536	UTSW	7	37569781	missense	possibly damaging	0.93
Z1176:Zfp536	UTSW	7	37493812	missense	possibly damaging	0.85
Z1186:Zfp536	UTSW	7	37479560	missense	probably benign	0.07
Z1186:Zfp536	UTSW	7	37480073	missense	probably benign
Z1186:Zfp536	UTSW	7	37480483	missense	probably benign
Z1191:Zfp536	UTSW	7	37479560	missense	probably benign	0.07
Z1191:Zfp536	UTSW	7	37480073	missense	probably benign
Z1191:Zfp536	UTSW	7	37480483	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGCTGTCTTGCACGGTCAC -3'
(R):5'- ATCCTTCGAGGGGCTTTTAAG -3'

Sequencing Primer
(F):5'- TTGCACGGTCACGGAGGAG -3'
(R):5'- TCTCAGCAGTGGACAGCC -3'

Posted On

2018-03-15