Mutagenetix > Incidental Mutation

Incidental Mutation 'R0554:Zfp536'

45353

Institutional Source

Beutler Lab

Gene Symbol

Zfp536

Ensembl Gene

ENSMUSG00000043456

Gene Name

zinc finger protein 536

Synonyms

9630010P11Rik

MMRRC Submission

038746-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0554 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37017449-37473066 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37180244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 787 (D787G)

Ref Sequence

ENSEMBL: ENSMUSP00000135068 (fasta)

Gene Model

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

AlphaFold

Q8K083

Predicted Effect

probably damaging
Transcript: ENSMUST00000056338
AA Change: D787G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058468
Gene: ENSMUSG00000043456
AA Change: D787G

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: D787G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134778
Gene: ENSMUSG00000043456
AA Change: D787G

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: D787G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135681
Gene: ENSMUSG00000043456
AA Change: D787G

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: D787G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135068
Gene: ENSMUSG00000043456
AA Change: D787G

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: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 144,982,181 (GRCm39)	Y255*	probably null	Het
1810024B03Rik	A	G	2: 127,029,196 (GRCm39)	M1T	probably null	Het
4930503L19Rik	T	C	18: 70,600,451 (GRCm39)	D386G	probably damaging	Het
Ace2	T	A	X: 162,958,947 (GRCm39)	N601K	probably benign	Het
Adam4	A	C	12: 81,468,198 (GRCm39)	I141R	probably damaging	Het
Adcy10	G	A	1: 165,340,699 (GRCm39)	G235S	probably benign	Het
Adcy5	G	A	16: 35,114,387 (GRCm39)	V997I	probably benign	Het
Aff2	T	G	X: 68,907,680 (GRCm39)	W1221G	possibly damaging	Het
Ankrd44	T	C	1: 54,802,917 (GRCm39)	N194D	probably benign	Het
Apba2	T	G	7: 64,395,528 (GRCm39)	L668R	probably damaging	Het
Asph	T	C	4: 9,604,581 (GRCm39)	D152G	probably damaging	Het
Bcl3	C	G	7: 19,553,991 (GRCm39)	V126L	probably benign	Het
Cd163	A	G	6: 124,289,619 (GRCm39)	T446A	probably benign	Het
Cd209g	C	T	8: 4,184,995 (GRCm39)		probably benign	Het
Cdadc1	A	T	14: 59,823,901 (GRCm39)	V197E	probably damaging	Het
CN725425	T	C	15: 91,144,966 (GRCm39)	C610R	possibly damaging	Het
Col6a2	A	G	10: 76,446,995 (GRCm39)		probably null	Het
Coro7	A	G	16: 4,450,121 (GRCm39)	L576P	possibly damaging	Het
Dgkb	T	A	12: 38,266,030 (GRCm39)	V503E	probably benign	Het
Dhx57	A	T	17: 80,567,665 (GRCm39)	L806*	probably null	Het
Dlec1	T	C	9: 118,944,070 (GRCm39)	V373A	probably benign	Het
Dnah11	G	T	12: 117,894,913 (GRCm39)	R3645S	probably benign	Het
Dnhd1	T	C	7: 105,343,602 (GRCm39)	S1649P	probably benign	Het
Draxin	T	G	4: 148,192,420 (GRCm39)	K297N	probably damaging	Het
Epha7	T	C	4: 28,951,401 (GRCm39)	S841P	probably damaging	Het
Esp8	T	G	17: 40,841,166 (GRCm39)	D142E	unknown	Het
F5	T	G	1: 164,007,018 (GRCm39)	V274G	probably damaging	Het
Fancc	T	C	13: 63,465,283 (GRCm39)	S475G	probably benign	Het
Fmo3	T	C	1: 162,781,901 (GRCm39)	N484S	probably benign	Het
Focad	T	C	4: 88,267,126 (GRCm39)	Y1046H	unknown	Het
Furin	C	T	7: 80,041,032 (GRCm39)	G602D	probably damaging	Het
Fut8	A	T	12: 77,411,744 (GRCm39)	I69L	probably benign	Het
Gnai3	A	G	3: 108,030,928 (GRCm39)	I78T	probably benign	Het
Gpr182	T	C	10: 127,586,940 (GRCm39)	I4V	probably benign	Het
Gpr63	T	C	4: 25,007,447 (GRCm39)	M57T	probably benign	Het
Grm1	T	A	10: 10,595,667 (GRCm39)	T654S	probably benign	Het
Gtf2h4	T	C	17: 35,979,531 (GRCm39)	T371A	probably benign	Het
Helq	T	C	5: 100,938,066 (GRCm39)	N460S	probably benign	Het
Hmcn1	T	C	1: 150,594,868 (GRCm39)	N1867S	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Iigp1c	G	A	18: 60,378,489 (GRCm39)	R8H	probably benign	Het
Inpp5j	A	G	11: 3,449,644 (GRCm39)	Y713H	probably damaging	Het
Ints6	A	T	14: 62,942,200 (GRCm39)	V511D	possibly damaging	Het
Irag2	G	A	6: 145,111,013 (GRCm39)	A237T	probably benign	Het
Itga4	A	G	2: 79,109,461 (GRCm39)	Y220C	probably damaging	Het
Itgav	T	G	2: 83,624,614 (GRCm39)	S735A	possibly damaging	Het
Kctd16	A	G	18: 40,391,492 (GRCm39)	I27V	probably benign	Het
Klhl6	T	C	16: 19,772,343 (GRCm39)	E334G	probably damaging	Het
Ltbp1	T	A	17: 75,532,274 (GRCm39)	L116H	probably damaging	Het
Magohb	T	A	6: 131,262,660 (GRCm39)	H98L	probably benign	Het
Mgat2	A	G	12: 69,232,166 (GRCm39)	T247A	probably benign	Het
Mtif2	G	A	11: 29,483,398 (GRCm39)		probably null	Het
Myrfl	T	C	10: 116,664,878 (GRCm39)	E384G	probably damaging	Het
Nfam1	G	T	15: 82,917,410 (GRCm39)	R8S	probably benign	Het
Numa1	T	C	7: 101,644,731 (GRCm39)	S236P	possibly damaging	Het
Or14c46	A	T	7: 85,918,865 (GRCm39)	I44N	probably damaging	Het
Or2w3b	T	C	11: 58,623,865 (GRCm39)	N42S	probably damaging	Het
Or5m10b	T	C	2: 85,699,863 (GRCm39)	F309S	probably benign	Het
Or6c207	T	C	10: 129,104,368 (GRCm39)	T275A	probably benign	Het
Orc4	C	T	2: 48,795,433 (GRCm39)	S431N	probably benign	Het
Pax2	T	C	19: 44,750,300 (GRCm39)	V129A	probably damaging	Het
Pcdhb15	A	G	18: 37,607,572 (GRCm39)	D268G	probably damaging	Het
Pdcd1	G	A	1: 93,967,107 (GRCm39)	R264C	probably damaging	Het
Pi15	T	A	1: 17,691,872 (GRCm39)	M187K	probably benign	Het
Plag1	C	T	4: 3,904,546 (GRCm39)	C215Y	probably damaging	Het
Plagl1	A	G	10: 13,002,926 (GRCm39)	T65A	probably benign	Het
Pramel51	T	C	12: 88,144,328 (GRCm39)	T162A	probably benign	Het
Prss48	T	A	3: 85,908,228 (GRCm39)	Q18L	probably benign	Het
Prune2	T	A	19: 17,102,582 (GRCm39)	C2580*	probably null	Het
Rab40b	T	A	11: 121,250,432 (GRCm39)	Q74L	probably damaging	Het
Raf1	A	G	6: 115,600,491 (GRCm39)	I376T	probably benign	Het
Rbm46	A	T	3: 82,772,575 (GRCm39)	F186I	probably damaging	Het
Reps1	C	T	10: 17,998,867 (GRCm39)	T720M	possibly damaging	Het
Rgs22	A	G	15: 36,054,855 (GRCm39)	M649T	probably benign	Het
Rhot1	C	T	11: 80,134,264 (GRCm39)	R47*	probably null	Het
Rhox2f	A	G	X: 36,753,124 (GRCm39)	Y8C	possibly damaging	Het
Rnf17	A	G	14: 56,760,007 (GRCm39)	Y1604C	probably damaging	Het
Rnf40	T	C	7: 127,201,756 (GRCm39)	C943R	probably damaging	Het
Ropn1l	A	T	15: 31,451,295 (GRCm39)	M63K	probably benign	Het
Sbf2	C	A	7: 110,027,494 (GRCm39)	V501F	probably damaging	Het
Sh3bp1	T	A	15: 78,791,467 (GRCm39)	M354K	probably damaging	Het
Sipa1l3	T	C	7: 29,087,455 (GRCm39)	H590R	possibly damaging	Het
Slco6d1	T	A	1: 98,394,422 (GRCm39)	C369S	probably benign	Het
Sulf1	T	C	1: 12,875,418 (GRCm39)	Y143H	probably damaging	Het
Tiam2	A	T	17: 3,488,956 (GRCm39)	R755*	probably null	Het
Trim12c	C	A	7: 103,994,169 (GRCm39)	L228F	probably damaging	Het
Ttc23l	G	T	15: 10,530,743 (GRCm39)	Q290K	probably benign	Het
Uba3	T	C	6: 97,168,221 (GRCm39)		probably null	Het
Ugt1a10	A	G	1: 87,983,817 (GRCm39)	E205G	probably damaging	Het
Ugt3a1	T	A	15: 9,351,206 (GRCm39)	S72T	probably benign	Het
Upk3bl	C	T	5: 136,088,648 (GRCm39)	T113I	probably damaging	Het
Uspl1	T	A	5: 149,124,644 (GRCm39)	D20E	probably damaging	Het
Vmn2r19	G	A	6: 123,313,102 (GRCm39)	G724E	probably damaging	Het
Vmn2r63	T	A	7: 42,583,129 (GRCm39)	K29*	probably null	Het
Vwf	C	T	6: 125,619,744 (GRCm39)	A1474V	probably benign	Het
Xpc	C	T	6: 91,468,208 (GRCm39)	A860T	probably benign	Het
Zfp462	A	G	4: 55,013,689 (GRCm39)	H737R	probably damaging	Het
Zfp692	A	G	11: 58,205,053 (GRCm39)	H434R	probably damaging	Het
Zp1	C	A	19: 10,897,926 (GRCm39)	C5F	probably benign	Het

Other mutations in Zfp536

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01075:Zfp536	APN	7	37,267,315 (GRCm39)	missense	probably damaging	0.99
IGL02729:Zfp536	APN	7	37,193,143 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Zfp536	UTSW	7	37,179,182 (GRCm39)	missense	probably benign	0.08
R0211:Zfp536	UTSW	7	37,267,874 (GRCm39)	missense	probably damaging	1.00
R0369:Zfp536	UTSW	7	37,267,373 (GRCm39)	missense	probably damaging	1.00
R0504:Zfp536	UTSW	7	37,268,243 (GRCm39)	missense	probably damaging	1.00
R1171:Zfp536	UTSW	7	37,269,059 (GRCm39)	missense	probably damaging	1.00
R1462:Zfp536	UTSW	7	37,178,735 (GRCm39)	missense	probably damaging	1.00
R1462:Zfp536	UTSW	7	37,178,735 (GRCm39)	missense	probably damaging	1.00
R1699:Zfp536	UTSW	7	37,268,879 (GRCm39)	missense	probably damaging	1.00
R1817:Zfp536	UTSW	7	37,268,042 (GRCm39)	missense	probably damaging	1.00
R1918:Zfp536	UTSW	7	37,179,624 (GRCm39)	missense	probably damaging	1.00
R2252:Zfp536	UTSW	7	37,178,814 (GRCm39)	missense	probably benign	0.30
R2288:Zfp536	UTSW	7	37,179,773 (GRCm39)	missense	probably damaging	0.98
R2509:Zfp536	UTSW	7	37,267,403 (GRCm39)	missense	possibly damaging	0.87
R3967:Zfp536	UTSW	7	37,173,255 (GRCm39)	makesense	probably null
R4039:Zfp536	UTSW	7	37,268,975 (GRCm39)	missense	probably damaging	1.00
R4600:Zfp536	UTSW	7	37,267,918 (GRCm39)	missense	probably damaging	1.00
R4706:Zfp536	UTSW	7	37,268,891 (GRCm39)	missense	probably damaging	1.00
R4771:Zfp536	UTSW	7	37,268,309 (GRCm39)	missense	probably damaging	1.00
R4808:Zfp536	UTSW	7	37,178,730 (GRCm39)	missense	probably damaging	1.00
R4945:Zfp536	UTSW	7	37,269,161 (GRCm39)	missense	probably damaging	1.00
R5196:Zfp536	UTSW	7	37,180,185 (GRCm39)	missense	probably damaging	1.00
R5506:Zfp536	UTSW	7	37,268,217 (GRCm39)	missense	probably damaging	1.00
R5816:Zfp536	UTSW	7	37,180,053 (GRCm39)	missense	probably damaging	1.00
R6114:Zfp536	UTSW	7	37,179,161 (GRCm39)	missense	probably damaging	0.99
R6131:Zfp536	UTSW	7	37,269,137 (GRCm39)	missense	probably damaging	1.00
R6156:Zfp536	UTSW	7	37,173,281 (GRCm39)	missense	unknown
R6257:Zfp536	UTSW	7	37,179,830 (GRCm39)	missense	probably damaging	1.00
R6864:Zfp536	UTSW	7	37,267,940 (GRCm39)	missense	probably damaging	1.00
R6975:Zfp536	UTSW	7	37,267,952 (GRCm39)	missense	probably damaging	1.00
R6976:Zfp536	UTSW	7	37,179,828 (GRCm39)	missense	probably damaging	1.00
R7176:Zfp536	UTSW	7	37,180,276 (GRCm39)	critical splice acceptor site	probably null
R7247:Zfp536	UTSW	7	37,268,631 (GRCm39)	missense	probably benign	0.04
R7325:Zfp536	UTSW	7	37,179,285 (GRCm39)	missense	probably benign
R7650:Zfp536	UTSW	7	37,269,117 (GRCm39)	missense	probably damaging	1.00
R7782:Zfp536	UTSW	7	37,268,126 (GRCm39)	missense	probably damaging	1.00
R7827:Zfp536	UTSW	7	37,269,113 (GRCm39)	missense	probably damaging	1.00
R8013:Zfp536	UTSW	7	37,269,035 (GRCm39)	missense	probably damaging	1.00
R8209:Zfp536	UTSW	7	37,268,080 (GRCm39)	missense	probably benign	0.00
R8504:Zfp536	UTSW	7	37,179,492 (GRCm39)	missense	probably benign
R8779:Zfp536	UTSW	7	37,267,692 (GRCm39)	nonsense	probably null
R8931:Zfp536	UTSW	7	37,268,721 (GRCm39)	missense	probably benign	0.41
R8985:Zfp536	UTSW	7	37,268,228 (GRCm39)	missense	probably damaging	1.00
X0066:Zfp536	UTSW	7	37,269,206 (GRCm39)	missense	possibly damaging	0.93
Z1176:Zfp536	UTSW	7	37,193,237 (GRCm39)	missense	possibly damaging	0.85
Z1186:Zfp536	UTSW	7	37,179,908 (GRCm39)	missense	probably benign
Z1186:Zfp536	UTSW	7	37,179,498 (GRCm39)	missense	probably benign
Z1186:Zfp536	UTSW	7	37,178,985 (GRCm39)	missense	probably benign	0.07
Z1191:Zfp536	UTSW	7	37,179,908 (GRCm39)	missense	probably benign
Z1191:Zfp536	UTSW	7	37,179,498 (GRCm39)	missense	probably benign
Z1191:Zfp536	UTSW	7	37,178,985 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- AGCTCTTCCGATCTCCGAGTAGTG -3'
(R):5'- AGTGTGTCATCCCTCAATAGTCCCC -3'

Sequencing Primer
(F):5'- AGCCTTTTAGGGCATCTGAAGAC -3'
(R):5'- TCCCTCAATAGTCCCCAATGG -3'

Posted On

2013-06-11