Mutagenetix > Incidental Mutation

Incidental Mutation 'R0326:Zfp592'

25843

Institutional Source

Beutler Lab

Gene Symbol

Zfp592

Ensembl Gene

ENSMUSG00000005621

Gene Name

zinc finger protein 592

Synonyms

MMRRC Submission

038536-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R0326 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80993681-81045164 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81024889 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 534 (T534A)

Ref Sequence

ENSEMBL: ENSMUSP00000102976 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107353]

AlphaFold

Q8BHZ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107353
AA Change: T534A

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102976
Gene: ENSMUSG00000005621
AA Change: T534A

Domain	Start	End	E-Value	Type
low complexity region	170	180	N/A	INTRINSIC
low complexity region	200	211	N/A	INTRINSIC
low complexity region	314	333	N/A	INTRINSIC
low complexity region	343	369	N/A	INTRINSIC
low complexity region	484	500	N/A	INTRINSIC
low complexity region	514	525	N/A	INTRINSIC
ZnF_C2H2	587	612	8.98e0	SMART
ZnF_C2H2	615	639	2.61e1	SMART
low complexity region	664	686	N/A	INTRINSIC
ZnF_C2H2	711	731	1.24e2	SMART
ZnF_C2H2	740	762	2.82e0	SMART
ZnF_C2H2	768	792	4.99e1	SMART
ZnF_C2H2	799	822	1.73e0	SMART
ZnF_C2H2	827	850	7.89e0	SMART
ZnF_C2H2	892	915	3.89e-3	SMART
low complexity region	924	935	N/A	INTRINSIC
low complexity region	965	979	N/A	INTRINSIC
ZnF_C2H2	983	1006	4.11e-2	SMART
ZnF_C2H2	1013	1036	7.37e-4	SMART
ZnF_C2H2	1043	1069	7.68e0	SMART
ZnF_C2H2	1124	1146	1.51e0	SMART
ZnF_C2H2	1153	1176	1.23e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176477

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.8%
20x: 91.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is thought to play a role in a complex developmental pathway and the regulation of genes involved in cerebellar development. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia. [provided by RefSeq, Jan 2011]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	T	1: 130,742,898	P286S	possibly damaging	Het
Aagab	T	A	9: 63,619,162	S156T	probably damaging	Het
Abca14	T	G	7: 120,224,419	Y390D	probably damaging	Het
Abcc2	T	A	19: 43,825,947	I1122N	possibly damaging	Het
Adamts16	T	C	13: 70,779,611	E503G	possibly damaging	Het
Adamts9	A	T	6: 92,858,057	C697*	probably null	Het
Adgrv1	T	C	13: 81,474,993	D3837G	possibly damaging	Het
Aire	T	A	10: 78,042,599	R128S	probably damaging	Het
Alkbh2	A	C	5: 114,123,950	*240E	probably null	Het
Als2	T	C	1: 59,180,583	Y1191C	probably damaging	Het
Anapc5	A	T	5: 122,814,604	V186E	probably benign	Het
Apob	C	T	12: 7,990,307	A548V	probably damaging	Het
B3galt4	A	T	17: 33,950,748	V172E	probably damaging	Het
Bbs7	A	C	3: 36,592,376	C432G	possibly damaging	Het
Cacna2d3	T	A	14: 29,045,644	E758V	probably damaging	Het
Cactin	T	G	10: 81,322,662	L154R	probably benign	Het
Ccdc129	A	T	6: 55,898,243	M393L	possibly damaging	Het
Ccdc88a	A	C	11: 29,461,021	R502S	probably benign	Het
Ccnf	A	T	17: 24,231,810	I398N	possibly damaging	Het
Chd1	A	T	17: 15,768,566	D1527V	probably damaging	Het
Chd1	A	T	17: 15,768,568	M1528L	probably benign	Het
Chrac1	G	A	15: 73,092,826		probably null	Het
Cln3	T	G	7: 126,583,045	M1L	probably damaging	Het
Cnot6	T	C	11: 49,677,436	Y442C	probably damaging	Het
Col19a1	A	T	1: 24,285,051		probably null	Het
Col1a2	T	C	6: 4,537,838	F1116L	unknown	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Cops4	T	G	5: 100,528,542	V53G	probably damaging	Het
Crnkl1	A	G	2: 145,919,955	S561P	probably benign	Het
Ctnnb1	C	A	9: 120,951,712	Q99K	probably benign	Het
Cxcr5	T	C	9: 44,513,281	S360G	probably benign	Het
Dab2	G	A	15: 6,418,316	V60M	probably damaging	Het
Ddx3y	A	T	Y: 1,263,321	Y648*	probably null	Het
Dennd2a	T	A	6: 39,497,110	D430V	probably damaging	Het
Dsp	G	T	13: 38,192,870	E1544*	probably null	Het
Efcab7	A	T	4: 99,831,394	M38L	possibly damaging	Het
Fto	A	G	8: 91,409,527	N141S	probably damaging	Het
Gabrp	A	G	11: 33,554,362	F318L	probably damaging	Het
Gm4737	T	A	16: 46,153,883	D377V	probably benign	Het
Gmeb1	A	C	4: 132,242,352	C103W	probably damaging	Het
Heatr9	T	C	11: 83,514,539	D365G	probably damaging	Het
Hif3a	G	A	7: 17,044,400	R436W	probably benign	Het
Hint2	A	G	4: 43,654,378	V145A	probably damaging	Het
Hmcn2	T	A	2: 31,423,225	L3482*	probably null	Het
Hsd3b1	A	T	3: 98,853,274	Y134N	probably damaging	Het
Impg2	T	A	16: 56,260,485	V775E	probably damaging	Het
Ipo5	A	G	14: 120,922,223	I154M	probably benign	Het
Itgad	T	A	7: 128,198,378	F893Y	probably benign	Het
Kdm4a	T	C	4: 118,161,706	R438G	probably benign	Het
Klk11	T	A	7: 43,776,519	M1K	probably null	Het
Lama5	A	T	2: 180,182,426	V2602D	possibly damaging	Het
Lrch3	T	C	16: 32,979,500	S35P	probably damaging	Het
Mfn2	A	G	4: 147,883,288	L441P	probably damaging	Het
Mgat4c	A	T	10: 102,388,704	I260F	probably damaging	Het
Mon1b	T	A	8: 113,637,743	S51T	probably benign	Het
Myh11	T	C	16: 14,218,880	D993G	probably benign	Het
Myo1a	A	G	10: 127,716,297	N762D	probably benign	Het
Nacc2	A	T	2: 26,060,333	Y464N	probably damaging	Het
Nckap1	A	G	2: 80,553,370	I150T	probably benign	Het
Ndufv2	G	T	17: 66,080,821	P119T	probably damaging	Het
Noc4l	G	A	5: 110,652,375	R95*	probably null	Het
Ntng1	A	T	3: 110,135,503	Y2*	probably null	Het
Olfr1333	A	T	4: 118,829,825	V205D	possibly damaging	Het
Olfr1423	C	T	19: 12,036,161	V194I	probably benign	Het
Olfr1505	C	T	19: 13,919,509	T163I	probably benign	Het
Olfr804	A	G	10: 129,705,769	E297G	possibly damaging	Het
Oog4	T	C	4: 143,439,203	N53D	probably benign	Het
Phkg2	T	G	7: 127,573,903	L11R	probably damaging	Het
Pogz	A	G	3: 94,870,113	D368G	probably damaging	Het
Prex2	T	A	1: 11,285,065	L1530Q	probably damaging	Het
Prmt1	C	T	7: 44,979,454	E144K	probably damaging	Het
Prss8	T	A	7: 127,927,176	I121F	probably benign	Het
Psmd13	T	C	7: 140,897,711	L314P	probably damaging	Het
Ptch2	G	A	4: 117,108,884	G467D	probably damaging	Het
Rbm20	C	A	19: 53,864,165	P1192Q	probably damaging	Het
Rpl19	T	A	11: 98,028,374	D45E	probably benign	Het
Rsph10b	C	T	5: 143,967,128	A219V	probably damaging	Het
Rtraf	C	T	14: 19,814,532		probably null	Het
Scaf1	T	A	7: 45,008,751	T235S	probably damaging	Het
Shank1	T	A	7: 44,319,170	C296S	unknown	Het
Slc39a7	A	T	17: 34,028,950	V426D	probably damaging	Het
Slc41a2	A	T	10: 83,283,746	V384D	probably damaging	Het
Slco1c1	T	C	6: 141,559,773	L475P	probably benign	Het
Slco6d1	A	C	1: 98,490,634	K515T	probably benign	Het
Sos2	T	C	12: 69,635,685	E253G	probably damaging	Het
Sp6	G	T	11: 97,021,535	D25Y	possibly damaging	Het
Syt11	A	C	3: 88,762,548	D12E	possibly damaging	Het
Taf2	A	G	15: 55,047,460	L606P	probably damaging	Het
Tbc1d5	A	G	17: 50,966,736	Y116H	probably damaging	Het
Tnfrsf8	A	G	4: 145,288,459	I243T	possibly damaging	Het
Tnxb	A	G	17: 34,698,179	S2183G	probably benign	Het
Trim66	T	C	7: 109,460,172	Y853C	probably benign	Het
Ttn	T	A	2: 76,737,495	T27685S	probably damaging	Het
Ttn	T	C	2: 76,743,122	E25809G	probably damaging	Het
Uvssa	G	A	5: 33,408,847	G445S	probably benign	Het
Zfp326	T	C	5: 105,910,275	S427P	probably damaging	Het
Zfp672	A	G	11: 58,316,347	S383P	possibly damaging	Het
Zfp799	A	G	17: 32,820,726	S188P	possibly damaging	Het
Zyg11b	A	C	4: 108,272,253	V54G	possibly damaging	Het

Other mutations in Zfp592

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01331:Zfp592	APN	7	81041548	nonsense	probably null
IGL01984:Zfp592	APN	7	81038644	missense	probably benign	0.00
IGL02079:Zfp592	APN	7	81039230	missense	probably benign	0.20
IGL02096:Zfp592	APN	7	81025048	missense	probably damaging	1.00
IGL02125:Zfp592	APN	7	81038184	missense	probably benign	0.00
IGL02374:Zfp592	APN	7	81024983	missense	probably damaging	1.00
IGL02419:Zfp592	APN	7	81038245	missense	probably damaging	1.00
IGL02466:Zfp592	APN	7	81023998	missense	probably damaging	1.00
IGL02485:Zfp592	APN	7	81037970	splice site	probably benign
IGL02500:Zfp592	APN	7	81041726	missense	probably benign
IGL02876:Zfp592	APN	7	81038127	missense	probably benign	0.01
IGL02940:Zfp592	APN	7	81024827	missense	probably damaging	1.00
R0634:Zfp592	UTSW	7	81038071	missense	probably damaging	1.00
R0684:Zfp592	UTSW	7	81037875	missense	probably benign	0.00
R0750:Zfp592	UTSW	7	81024745	missense	probably benign
R1346:Zfp592	UTSW	7	81038064	missense	possibly damaging	0.54
R1457:Zfp592	UTSW	7	81024479	missense	probably damaging	0.99
R1650:Zfp592	UTSW	7	81038100	missense	probably benign	0.04
R1804:Zfp592	UTSW	7	81023695	missense	probably damaging	1.00
R1918:Zfp592	UTSW	7	81037420	nonsense	probably null
R2114:Zfp592	UTSW	7	81024796	missense	probably damaging	1.00
R2144:Zfp592	UTSW	7	81038202	missense	probably benign	0.01
R2164:Zfp592	UTSW	7	81041438	missense	possibly damaging	0.87
R2246:Zfp592	UTSW	7	81041613	missense	possibly damaging	0.91
R3701:Zfp592	UTSW	7	81037411	nonsense	probably null
R3809:Zfp592	UTSW	7	81024532	missense	probably benign	0.00
R4574:Zfp592	UTSW	7	81023786	missense	possibly damaging	0.87
R4866:Zfp592	UTSW	7	81041859	missense	probably damaging	1.00
R5023:Zfp592	UTSW	7	81024347	missense	probably damaging	1.00
R5121:Zfp592	UTSW	7	81023561	missense	probably damaging	1.00
R5174:Zfp592	UTSW	7	81038325	missense	probably damaging	1.00
R5794:Zfp592	UTSW	7	81025033	missense	probably benign	0.00
R5946:Zfp592	UTSW	7	81037897	missense	possibly damaging	0.95
R6312:Zfp592	UTSW	7	81023436	missense	probably benign	0.05
R6657:Zfp592	UTSW	7	81025486	missense	possibly damaging	0.49
R6814:Zfp592	UTSW	7	81023828	missense	probably benign	0.02
R6872:Zfp592	UTSW	7	81023828	missense	probably benign	0.02
R7056:Zfp592	UTSW	7	81023319	missense	probably damaging	1.00
R7295:Zfp592	UTSW	7	81024322	missense	probably damaging	1.00
R7351:Zfp592	UTSW	7	81041691	missense	probably benign	0.00
R7475:Zfp592	UTSW	7	81023452	missense	probably damaging	0.99
R7509:Zfp592	UTSW	7	81038340	missense	probably damaging	0.99
R7552:Zfp592	UTSW	7	81023642	missense	probably benign	0.01
R7737:Zfp592	UTSW	7	81025193	missense	probably damaging	1.00
R7752:Zfp592	UTSW	7	81024721	missense	probably benign	0.13
R7901:Zfp592	UTSW	7	81024721	missense	probably benign	0.13
R8100:Zfp592	UTSW	7	81024192	missense	probably benign	0.05
R8440:Zfp592	UTSW	7	81041523	missense	possibly damaging	0.89
R8710:Zfp592	UTSW	7	81023573	missense	probably damaging	1.00
R8766:Zfp592	UTSW	7	81024605	missense	probably benign	0.00
R9083:Zfp592	UTSW	7	81024896	missense	possibly damaging	0.95
R9141:Zfp592	UTSW	7	81024457	missense	probably damaging	1.00
R9194:Zfp592	UTSW	7	81024601	missense	probably benign
R9197:Zfp592	UTSW	7	81024319	missense	possibly damaging	0.73
R9246:Zfp592	UTSW	7	81041781	missense	probably benign	0.03
R9321:Zfp592	UTSW	7	81041478	missense	possibly damaging	0.65
R9426:Zfp592	UTSW	7	81024457	missense	probably damaging	1.00
R9785:Zfp592	UTSW	7	81023497	missense	probably damaging	1.00
X0022:Zfp592	UTSW	7	81038187	nonsense	probably null
X0028:Zfp592	UTSW	7	81024014	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCACTTTTCTGAGGCAGGCATAC -3'
(R):5'- GCTCAGGCTCTTCTCTAAGGCAAAC -3'

Sequencing Primer
(F):5'- GGATCTGCCCTGAACTCACAG -3'
(R):5'- CGTCTCCGCACTCCAGG -3'

Posted On

2013-04-16