Mutagenetix > Incidental Mutation

Incidental Mutation 'R6114:Zfp536'

485016

Institutional Source

Beutler Lab

Gene Symbol

Zfp536

Ensembl Gene

ENSMUSG00000043456

Gene Name

zinc finger protein 536

Synonyms

MMRRC Submission

044263-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6114 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37472135-37773641 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37479736 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 84 (I84N)

Ref Sequence

ENSEMBL: ENSMUSP00000135234 (fasta)

Gene Model

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

AlphaFold

Q8K083

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056338
AA Change: I1148N

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000058468
Gene: ENSMUSG00000043456
AA Change: I1148N

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

possibly damaging
Transcript: ENSMUST00000175941
AA Change: I1148N

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134778
Gene: ENSMUSG00000043456
AA Change: I1148N

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

possibly damaging
Transcript: ENSMUST00000176114
AA Change: I1148N

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135681
Gene: ENSMUSG00000043456
AA Change: I1148N

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: ENSMUST00000176129
AA Change: I84N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135234
Gene: ENSMUSG00000043456
AA Change: I84N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176205
AA Change: I1148N

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135068
Gene: ENSMUSG00000043456
AA Change: I1148N

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

Meta Mutation Damage Score

0.0825

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

94% (60/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	C	A	14: 68,571,803	V237L	probably benign	Het
Aff1	T	C	5: 103,842,297	S878P	probably damaging	Het
Ahcy	A	C	2: 155,062,159	L386R	probably damaging	Het
Ank2	T	C	3: 127,011,051	N607D	probably damaging	Het
Arid5b	T	C	10: 68,097,744	D776G	possibly damaging	Het
Art4	T	A	6: 136,857,213	T11S	unknown	Het
Blm	T	C	7: 80,513,487	T39A	probably damaging	Het
Cabin1	T	A	10: 75,747,971	M221L	probably benign	Het
Cacna1c	T	C	6: 118,596,140	T1675A	probably benign	Het
Cacnb2	A	T	2: 14,975,201	H285L	possibly damaging	Het
Cchcr1	A	G	17: 35,525,330	E339G	probably damaging	Het
Cd14	A	G	18: 36,725,953	W150R	probably damaging	Het
Cep162	A	G	9: 87,203,710	I1187T	probably benign	Het
Cntnap4	A	G	8: 112,841,753	H807R	probably damaging	Het
Copb1	T	A	7: 114,246,801	H178L	probably benign	Het
Cpxm2	A	G	7: 132,154,306	V103A	probably benign	Het
Egfr	A	G	11: 16,904,374	T849A	possibly damaging	Het
Endou	T	A	15: 97,713,876	K294*	probably null	Het
Fam208b	G	A	13: 3,590,081	T352M	probably damaging	Het
Gm884	T	A	11: 103,617,791		probably benign	Het
Hoxd9	A	G	2: 74,699,365	N322D	probably damaging	Het
Hsph1	C	A	5: 149,627,387	V416L	possibly damaging	Het
Igkv4-78	T	A	6: 69,059,759	T97S	possibly damaging	Het
Itga10	G	T	3: 96,649,035	C162F	probably damaging	Het
Lmod2	A	G	6: 24,603,692	E222G	probably damaging	Het
Lpar5	A	G	6: 125,081,676	N120S	probably damaging	Het
Lrrk2	A	G	15: 91,747,826	I1318V	probably benign	Het
Lst1	T	C	17: 35,188,360	T11A	possibly damaging	Het
Mfn1	C	A	3: 32,563,836	A106D	probably damaging	Het
Ms4a12	G	T	19: 11,215,290	N227K	probably benign	Het
Nr1h4	T	A	10: 89,478,816	N273Y	possibly damaging	Het
Nrd1	A	T	4: 109,044,585	K617M	probably damaging	Het
Olfr355	A	T	2: 36,927,689	C142S	possibly damaging	Het
Olfr516	A	T	7: 108,845,386	M208K	possibly damaging	Het
Olfr771	T	A	10: 129,160,333	H217L	probably benign	Het
Pcdhgc3	C	G	18: 37,807,872	T442R	probably benign	Het
Pcnx2	T	C	8: 125,773,947	N1468S	probably damaging	Het
Pde2a	A	T	7: 101,511,112		probably null	Het
Pitx2	C	G	3: 129,204,413		probably null	Het
Reck	T	A	4: 43,922,895	I390N	probably damaging	Het
Rora	A	G	9: 69,371,323	N254S	probably benign	Het
Samd4b	A	G	7: 28,522,792		probably null	Het
Scn8a	A	G	15: 101,040,596	T1949A	probably damaging	Het
Slc22a15	A	T	3: 101,860,852	Y346*	probably null	Het
Slc24a5	A	G	2: 125,083,092	T218A	probably benign	Het
Slc38a10	G	A	11: 120,129,312	Q305*	probably null	Het
Slc45a4	G	A	15: 73,605,604	P28S	probably damaging	Het
Smyd5	A	T	6: 85,440,262		probably benign	Het
Sox8	T	C	17: 25,567,520	D403G	probably damaging	Het
Stx7	A	G	10: 24,184,985		probably null	Het
Svil	T	C	18: 5,108,639	S1522P	probably damaging	Het
Sycp2	G	C	2: 178,348,245	R1403G	probably benign	Het
Tcf25	A	T	8: 123,384,375	K192M	probably damaging	Het
Tecpr1	C	T	5: 144,204,640	G804S	possibly damaging	Het
Teddm1a	C	G	1: 153,891,868	S26C	probably damaging	Het
Usp13	C	T	3: 32,854,669	P155S	probably damaging	Het
Usp17lb	T	A	7: 104,840,364	D451V	possibly damaging	Het
Vmn1r173	A	G	7: 23,702,829	N163S	possibly damaging	Het
Vmn2r103	G	T	17: 19,812,325	C787F	probably damaging	Het
Vmn2r106	G	A	17: 20,268,376	P587L	probably benign	Het
Wdr24	C	T	17: 25,824,605	H134Y	probably benign	Het
Zbtb40	T	A	4: 136,988,691	I988F	probably damaging	Het
Zfp651	T	A	9: 121,765,595	F540Y	probably damaging	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
R6131:Zfp536	UTSW	7	37569712	missense	probably damaging	1.00
R6156:Zfp536	UTSW	7	37473856	missense	unknown
R6257:Zfp536	UTSW	7	37480405	missense	probably damaging	1.00
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
R8779:Zfp536	UTSW	7	37568267	nonsense	probably null
R8931:Zfp536	UTSW	7	37569296	missense	probably benign	0.41
R8985:Zfp536	UTSW	7	37568803	missense	probably damaging	1.00
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'- TAAAGGTGAGACCAGTCCCTG -3'
(R):5'- CCAGCCAAAGAGACTCTAGG -3'

Sequencing Primer
(F):5'- TGTCGCCGCCCTCACTG -3'
(R):5'- GGGACCCGAAGAGTGGTC -3'

Posted On

2017-08-16