Mutagenetix > Incidental Mutation

Incidental Mutation 'R7351:Zfp592'

570573

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 #

R7351 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80993681-81045164 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81041691 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1206 (V1206A)

Ref Sequence

ENSEMBL: ENSMUSP00000102976 (fasta)

Gene Model

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

AlphaFold

Q8BHZ4

Predicted Effect

probably benign
Transcript: ENSMUST00000107353
AA Change: V1206A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102976
Gene: ENSMUSG00000005621
AA Change: V1206A

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

Meta Mutation Damage Score

0.0642

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (56/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	A	3: 124,412,510	G343V	probably damaging	Het
1700006E09Rik	A	G	11: 101,991,505	E163G	probably benign	Het
1700007K13Rik	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,466,110		probably benign	Het
Adamts6	G	A	13: 104,390,112	S516N	possibly damaging	Het
Ahi1	A	G	10: 20,965,933	D301G	probably damaging	Het
Arhgef37	T	A	18: 61,498,215	L566F	possibly damaging	Het
AU040320	A	G	4: 126,816,444	N328D	probably damaging	Het
Bicc1	G	T	10: 70,947,900	T469K	probably benign	Het
Brk1	T	C	6: 113,615,781	S42P	probably benign	Het
Ccdc180	A	G	4: 45,903,887	E351G	possibly damaging	Het
Cenpo	A	T	12: 4,216,581	F176I	probably damaging	Het
Clec12b	A	G	6: 129,379,911		probably null	Het
Ddx42	A	G	11: 106,247,682	N769S	probably benign	Het
Drc7	A	G	8: 95,058,507	D165G	probably benign	Het
Dync2h1	A	T	9: 7,167,145	I486N	probably damaging	Het
Gmip	A	G	8: 69,817,384	D679G	probably benign	Het
Gml2	T	C	15: 74,821,376	V76A	possibly damaging	Het
Gpr26	T	C	7: 131,974,365	C253R	probably damaging	Het
H2-Q4	A	G	17: 35,382,878	T239A	possibly damaging	Het
Hmcn1	T	A	1: 150,667,889	Y2845F	probably damaging	Het
Ift172	A	G	5: 31,275,896	Y550H	probably damaging	Het
Irgm2	G	A	11: 58,219,605	V41M	possibly damaging	Het
Lrp2	C	T	2: 69,448,142	G3956R	probably damaging	Het
Matn2	G	A	15: 34,345,336	R163H	probably damaging	Het
Mxd1	A	G	6: 86,651,466	S151P	probably damaging	Het
Olfr1022	G	T	2: 85,864,071		probably benign	Het
Olfr1246	C	T	2: 89,590,513	G201S	probably benign	Het
Olfr1330	T	C	4: 118,893,836	V251A	probably benign	Het
Olfr147	C	T	9: 38,403,443	L190F	probably damaging	Het
Plcg2	A	G	8: 117,590,310	E642G	possibly damaging	Het
Pramel6	T	A	2: 87,510,328	F335I	probably benign	Het
Psd	G	T	19: 46,322,430	S393R	probably benign	Het
Pwwp2a	A	G	11: 43,682,280	D63G	probably benign	Het
Rbm28	T	C	6: 29,158,880	T139A	probably benign	Het
Ripk2	T	G	4: 16,155,048	E157A	probably damaging	Het
Rnf145	G	A	11: 44,548,796	V140I	possibly damaging	Het
Rnf38	T	C	4: 44,149,102	N114D	probably benign	Het
Samd9l	G	A	6: 3,374,157	R1035C	probably benign	Het
Sec14l3	A	G	11: 4,074,785	T245A	probably benign	Het
Serpina10	A	T	12: 103,628,935	F8L	probably benign	Het
Slc16a8	T	A	15: 79,253,641	D56V	probably damaging	Het
Spag9	A	T	11: 94,092,976	E726D	probably benign	Het
Spg11	A	G	2: 122,069,931	F1547L	possibly damaging	Het
Sspo	T	C	6: 48,464,921	I1955T	possibly damaging	Het
Stx18	T	A	5: 38,039,411	V27E	probably benign	Het
Taf1c	A	G	8: 119,599,000	S708P	probably damaging	Het
Tas2r126	T	C	6: 42,435,306	F258L	probably benign	Het
Tdpoz2	C	T	3: 93,652,593	W24*	probably null	Het
Tmc8	T	C	11: 117,783,828	L123P	probably damaging	Het
Trmo	A	T	4: 46,387,716	Y35N	possibly damaging	Het
Ttn	C	T	2: 76,767,686	V19628I	possibly damaging	Het
Ttn	G	A	2: 76,939,930	A2685V	unknown	Het
Usp15	A	T	10: 123,132,999	M349K	probably damaging	Het
Vmn2r89	A	G	14: 51,456,282	N363S	probably benign	Het
Vwa3a	T	A	7: 120,776,336	I423N	probably damaging	Het
Zfp866	A	T	8: 69,765,897	Y358N	probably 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
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
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'- AAAGTGCACCTTCGCCACAG -3'
(R):5'- CACCTGAGGAGATAGTGCATG -3'

Sequencing Primer
(F):5'- GCCACAGACTCGGAACTTGAG -3'
(R):5'- AGGAGATAGTGCATGGCTGTTC -3'

Posted On

2019-09-13