Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4453001:Zfp536'

555316

Institutional Source

Beutler Lab

Gene Symbol

Zfp536

Ensembl Gene

ENSMUSG00000043456

Gene Name

zinc finger protein 536

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4453001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37472135-37773641 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37479757 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1141 (H1141R)

Ref Sequence

ENSEMBL: ENSMUSP00000058468 (fasta)

Gene Model

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

AlphaFold

Q8K083

Predicted Effect

probably benign
Transcript: ENSMUST00000056338
AA Change: H1141R

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000058468
Gene: ENSMUSG00000043456
AA Change: H1141R

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 benign
Transcript: ENSMUST00000175941
AA Change: H1141R

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000134778
Gene: ENSMUSG00000043456
AA Change: H1141R

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: ENSMUST00000176114
AA Change: H1141R

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000135681
Gene: ENSMUSG00000043456
AA Change: H1141R

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: ENSMUST00000176129
AA Change: H77R

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000135234
Gene: ENSMUSG00000043456
AA Change: H77R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176205
AA Change: H1141R

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000135068
Gene: ENSMUSG00000043456
AA Change: H1141R

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: 93.3%
3x: 90.9%
10x: 85.6%
20x: 74.1%

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 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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	G	3: 122,105,316	I649S	probably damaging	Het
Abcc2	T	A	19: 43,803,782	L334*	probably null	Het
Adam28	A	T	14: 68,634,876	S306T	probably benign	Het
Adam34	T	A	8: 43,651,312	D432V	probably damaging	Het
Adcy7	A	G	8: 88,323,636	Y723C	probably benign	Het
Adgre5	T	A	8: 83,724,460	M713L	probably benign	Het
Aebp2	C	A	6: 140,637,686	C295*	probably null	Het
Amn1	G	T	6: 149,170,859	Q127K	probably benign	Het
Atcay	C	T	10: 81,210,549	V314M	probably damaging	Het
Atp1a1	T	C	3: 101,581,179	E847G	probably benign	Het
Atp2b1	A	G	10: 99,016,978	E1039G	probably benign	Het
Caskin1	A	G	17: 24,499,292	Y292C	probably damaging	Het
Cftr	A	G	6: 18,214,106	T94A	probably damaging	Het
Ciart	T	A	3: 95,880,476	K182M	probably damaging	Het
Col1a2	A	C	6: 4,527,079	S603R	possibly damaging	Het
Cspp1	C	A	1: 10,074,872	S298R	possibly damaging	Het
Cul7	T	A	17: 46,651,820	C126S	probably damaging	Het
Cyp2c55	A	T	19: 39,011,791	I145F	probably damaging	Het
Cypt4	G	C	9: 24,625,474	A87P	probably damaging	Het
Disp2	G	A	2: 118,787,644	V224M	probably benign	Het
Dlgap5	TTC	T	14: 47,401,522		probably null	Het
Dock1	A	G	7: 135,152,300	K1602R	probably benign	Het
Ears2	T	C	7: 122,048,339	I241V	probably benign	Het
Eml6	T	C	11: 29,802,489	T975A	probably damaging	Het
Ephb2	T	C	4: 136,660,810	T660A	probably benign	Het
Fbxw7	G	A	3: 84,965,314	V268M		Het
Gart	A	G	16: 91,636,538	F289S	probably damaging	Het
Gmcl1	G	T	6: 86,704,538	N391K	probably benign	Het
Greb1l	A	C	18: 10,533,031	Q975P	probably damaging	Het
Greb1l	G	T	18: 10,533,032	Q975H	probably benign	Het
Grik5	C	A	7: 25,010,694	R872L	probably damaging	Het
Hmox2	T	A	16: 4,765,057	I218N	probably damaging	Het
Hook1	A	T	4: 96,014,852	D526V	probably damaging	Het
Ifna4	A	T	4: 88,841,954	N32Y	probably damaging	Het
Ighg2b	T	A	12: 113,306,872	N213Y	unknown	Het
Itih4	G	A	14: 30,901,170	V900I	probably benign	Het
Itpr2	A	T	6: 146,373,173	F837Y	probably damaging	Het
Kif3a	T	C	11: 53,579,114	V147A	probably benign	Het
Klra9	T	A	6: 130,191,321		probably benign	Het
Lamp3	G	T	16: 19,673,460	Q345K	probably benign	Het
Ltbp3	G	A	19: 5,757,794	E1188K	probably damaging	Het
Med1	T	A	11: 98,158,417	I518L	probably benign	Het
Mis18bp1	T	C	12: 65,158,673	T242A	probably damaging	Het
Nemp1	T	A	10: 127,696,254	F392Y	probably benign	Het
Obscn	C	A	11: 59,060,976	G3984W	probably damaging	Het
Obscn	T	A	11: 59,069,834	H3217L	possibly damaging	Het
Olfr1157	C	T	2: 87,962,458	V145M	possibly damaging	Het
Olfr1328	A	G	4: 118,934,626	M74T	probably benign	Het
Olfr1532-ps1	C	T	7: 106,914,929	H244Y	probably damaging	Het
Olfr709-ps1	T	C	7: 106,926,842	I206V	probably benign	Het
Olfr71	A	G	4: 43,706,464	Y35H	probably damaging	Het
P4ha1	G	T	10: 59,350,472	A258S	probably benign	Het
Parn	T	C	16: 13,607,281	I423V	probably benign	Het
Pcdh20	C	A	14: 88,467,308	S852I	probably damaging	Het
Pcnx3	A	G	19: 5,672,756		probably null	Het
Pcsk1	A	T	13: 75,112,650	I331F	probably damaging	Het
Pkd1l2	G	T	8: 117,022,022	S1803R	probably benign	Het
Pkd1l3	C	A	8: 109,660,801	N1792K	probably damaging	Het
Plekhg1	C	A	10: 3,963,469	Q1119K		Het
Prr30	T	A	14: 101,198,935	T64S	probably benign	Het
Rec114	T	C	9: 58,660,370	N111S	probably benign	Het
Reck	G	A	4: 43,895,850	V79I	probably benign	Het
Rexo1	A	G	10: 80,550,397	F276L	probably damaging	Het
Rgs6	T	C	12: 83,091,779	Y296H	probably damaging	Het
Sdk1	A	G	5: 142,212,038	R2149G	probably benign	Het
Slc20a2	C	A	8: 22,535,382	F33L	probably damaging	Het
Spopl	T	A	2: 23,545,449	T25S	probably damaging	Het
Srcap	A	T	7: 127,549,320	I1947F	possibly damaging	Het
Srek1	A	C	13: 103,744,783		probably null	Het
St8sia1	C	T	6: 142,829,252	W200*	probably null	Het
Tas2r106	A	T	6: 131,678,502	F129I	possibly damaging	Het
Tbrg4	A	T	11: 6,620,857	L205Q	probably damaging	Het
Tchh	C	A	3: 93,445,880	R876S	unknown	Het
Thap12	G	T	7: 98,715,038	A138S	probably benign	Het
Tjp1	C	T	7: 65,343,614		probably null	Het
Traf4	G	A	11: 78,161,534	P95L	probably benign	Het
Trappc9	ATCTC	ATCTCTC	15: 73,031,598		probably null	Het
Usp20	G	A	2: 31,017,486	V677M	possibly damaging	Het
Usp50	C	A	2: 126,783,316		probably benign	Het
Vmn1r21	T	C	6: 57,844,322	T46A	probably benign	Het
Vmn2r54	T	A	7: 12,629,742	H408L	probably benign	Het
Zfp266	T	C	9: 20,506,003	T30A	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
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
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'- CTTGGGCTAAAGGTGAGACC -3'
(R):5'- CAGCCAAAGAGACTCTAGGG -3'

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

Posted On

2019-06-07