Mutagenetix > Incidental Mutation

Incidental Mutation 'R6872:Zfp592'

536210

Institutional Source

Beutler Lab

Gene Symbol

Zfp592

Ensembl Gene

ENSMUSG00000005621

Gene Name

zinc finger protein 592

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R6872 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80993681-81045164 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81023828 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 180 (V180A)

Ref Sequence

ENSEMBL: ENSMUSP00000102976 (fasta)

Gene Model

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

AlphaFold

Q8BHZ4

Predicted Effect

probably benign
Transcript: ENSMUST00000107353
AA Change: V180A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000102976
Gene: ENSMUSG00000005621
AA Change: V180A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,623,180	V336I	probably benign	Het
Abcg3	T	C	5: 104,935,994	T637A	probably benign	Het
Ap3d1	G	A	10: 80,714,322	R692*	probably null	Het
Aqp2	C	T	15: 99,584,004	H260Y	probably benign	Het
Btbd2	C	A	10: 80,644,332	R383L	probably damaging	Het
Ccdc24	T	C	4: 117,869,926	T196A	probably benign	Het
Cdc20b	G	A	13: 113,083,975	G463S	probably damaging	Het
Ceacam5	A	T	7: 17,752,287	R570*	probably null	Het
Col12a1	A	T	9: 79,677,234	N1357K	probably damaging	Het
Cpa5	A	T	6: 30,614,054	Q65L	probably benign	Het
Ddo	A	C	10: 40,637,418	M119L	possibly damaging	Het
Dnah8	G	T	17: 30,762,679	L3058F	probably damaging	Het
Dnajb8	A	G	6: 88,223,040	N186S	probably damaging	Het
Dock4	T	C	12: 40,812,326		probably null	Het
Ear6	A	G	14: 51,854,428	Y144C	probably damaging	Het
Eng	T	A	2: 32,673,275	I281N	probably damaging	Het
Fgf2	A	G	3: 37,404,711	K85E	probably damaging	Het
Fubp1	A	T	3: 152,226,146	Q37L	probably benign	Het
Gabra2	G	T	5: 71,094,539	P22T	probably damaging	Het
Gm10401	T	C	5: 115,098,186		probably benign	Het
Gm436	A	T	4: 144,670,646	L172*	probably null	Het
Gm6657	T	A	12: 78,197,367	D31E	probably damaging	Het
Gsdmc	T	C	15: 63,778,707	D275G	possibly damaging	Het
Iglv3	A	G	16: 19,241,284	I98T	probably damaging	Het
Lmod1	G	T	1: 135,365,141	R578L	probably damaging	Het
Mindy2	A	G	9: 70,616,762		probably null	Het
Neb	G	T	2: 52,293,645	Q1004K	probably damaging	Het
Nkx2-9	T	G	12: 56,611,889	N180T	probably benign	Het
Nlrp2	C	T	7: 5,308,710	R922H	probably benign	Het
Nol4l	T	C	2: 153,483,817	E116G	probably damaging	Het
Olfr201	A	G	16: 59,269,598	L23P	probably benign	Het
Olfr366	A	T	2: 37,219,977	M163L	possibly damaging	Het
Pcdhb20	A	C	18: 37,506,165	E581D	probably benign	Het
Pidd1	G	T	7: 141,439,418	T750K	probably benign	Het
Rab44	A	G	17: 29,139,810	E324G	probably benign	Het
Ramp3	T	C	11: 6,674,768	C21R	possibly damaging	Het
Rpap1	A	C	2: 119,775,369	M345R	probably damaging	Het
Serpina3k	A	C	12: 104,344,260	K350Q	probably benign	Het
St13	C	T	15: 81,366,346		probably null	Het
Stard9	A	T	2: 120,714,068	K4497*	probably null	Het
Tbx19	A	T	1: 165,147,633		probably null	Het
Tgoln1	A	G	6: 72,615,555	V314A	possibly damaging	Het
Them4	A	T	3: 94,324,371	I172F	probably damaging	Het
Tmc7	T	A	7: 118,547,623	Y477F	probably benign	Het
Tmem132a	A	G	19: 10,863,305	L421P	probably damaging	Het
Trim69	A	G	2: 122,167,910	E121G	probably damaging	Het
Vmn2r11	T	G	5: 109,047,110	R783S	possibly damaging	Het
Vmn2r62	T	A	7: 42,788,988	L141F	probably benign	Het
Zbtb7a	A	G	10: 81,148,071	N449S	possibly damaging	Het
Zfhx3	C	T	8: 108,800,641	R1057W	probably damaging	Het
Zfp180	G	T	7: 24,105,881	C575F	probably damaging	Het
Zfp462	G	A	4: 55,012,326	A1431T	probably benign	Het
Zfp605	C	T	5: 110,127,445	P143L	probably benign	Het
Zfp646	T	C	7: 127,883,333	S1561P	probably benign	Het
Zfp706	T	C	15: 37,001,946	T46A	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
R0326:Zfp592	UTSW	7	81024889	missense	possibly damaging	0.83
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
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'- GCTAGGAGTTTCACAAGCAAG -3'
(R):5'- GGGCTCTCCAATACTGTTGC -3'

Sequencing Primer
(F):5'- AAGCTAGAGCCTTCCAAGTCGG -3'
(R):5'- CTCCAATACTGTTGCTAGGGTGAC -3'

Posted On

2018-10-18