Mutagenetix > Incidental Mutation

Incidental Mutation 'R1804:Zfp592'

203382

Institutional Source

Beutler Lab

Gene Symbol

Zfp592

Ensembl Gene

ENSMUSG00000005621

Gene Name

zinc finger protein 592

Synonyms

MMRRC Submission

039834-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R1804 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80993681-81045164 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 81023695 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 136 (P136T)

Ref Sequence

ENSEMBL: ENSMUSP00000102976 (fasta)

Gene Model

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

AlphaFold

Q8BHZ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000107353
AA Change: P136T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102976
Gene: ENSMUSG00000005621
AA Change: P136T

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

Meta Mutation Damage Score

0.0757

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.5%
20x: 89.8%

Validation Efficiency

96% (77/80)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	A	G	1: 184,033,203	Y220H	probably benign	Het
2610507B11Rik	A	G	11: 78,273,469	H1165R	probably damaging	Het
4930579C12Rik	T	C	9: 89,152,060		noncoding transcript	Het
Abcc8	T	C	7: 46,120,479	S871G	probably benign	Het
Acly	T	C	11: 100,515,905	Y288C	probably damaging	Het
Adgrb1	T	A	15: 74,529,540	D128E	probably damaging	Het
AF529169	T	A	9: 89,603,099	M82L	possibly damaging	Het
Alms1	C	T	6: 85,621,275	Q1497*	probably null	Het
Cacna1c	G	A	6: 118,687,046	T688M	probably damaging	Het
Ccdc7a	A	T	8: 128,988,766	L279*	probably null	Het
Cep135	A	G	5: 76,636,932	E958G	probably benign	Het
Clec4n	G	T	6: 123,230,022	V2L	possibly damaging	Het
Col28a1	C	T	6: 8,164,612		probably null	Het
Dcaf5	A	G	12: 80,339,829	S508P	probably benign	Het
Dlgap2	C	A	8: 14,727,809	N351K	possibly damaging	Het
Dnah8	T	A	17: 30,708,407	Y1346N	probably benign	Het
Dqx1	T	C	6: 83,060,322	V322A	probably damaging	Het
Ebf3	A	C	7: 137,200,521	L412V	possibly damaging	Het
Epha5	T	C	5: 84,331,815	N110S	probably benign	Het
Fcgbp	T	C	7: 28,086,139	C334R	probably benign	Het
Glp1r	T	A	17: 30,930,713		probably null	Het
Gm4952	G	T	19: 12,618,420	R58L	probably damaging	Het
Gm7579	G	A	7: 142,211,938	C27Y	unknown	Het
Golm1	T	A	13: 59,642,389		probably null	Het
Gucy2g	T	A	19: 55,210,309	I801F	probably benign	Het
H2-D1	T	C	17: 35,263,552	Y83H	probably damaging	Het
Homez	A	T	14: 54,857,141	I19N	probably damaging	Het
Hoxa5	T	C	6: 52,202,648	K249R	probably damaging	Het
Hsd17b4	A	T	18: 50,177,984	N550Y	probably damaging	Het
Ipo4	A	T	14: 55,629,456	N668K	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Klb	A	G	5: 65,379,853	D842G	probably damaging	Het
Mmp21	G	T	7: 133,678,882	P120T	probably benign	Het
Mroh7	T	A	4: 106,694,392	I918F	possibly damaging	Het
Muc5b	A	G	7: 141,863,780	T3488A	possibly damaging	Het
Npc1	C	T	18: 12,223,088	C42Y	probably damaging	Het
Ogdh	A	G	11: 6,338,565	Y214C	probably damaging	Het
Olfr1042	G	T	2: 86,160,073	T99N	probably benign	Het
Olfr1277	T	C	2: 111,269,930	M146V	probably benign	Het
Olfr450	G	A	6: 42,818,221	C250Y	possibly damaging	Het
Olfr726	A	T	14: 50,083,902	W260R	probably damaging	Het
Olfr930	A	G	9: 38,930,650	T160A	possibly damaging	Het
Phtf1	A	G	3: 103,987,567		probably benign	Het
Plb1	A	G	5: 32,353,697	N1302S	possibly damaging	Het
Prex2	A	G	1: 11,132,342	K492E	probably damaging	Het
Prkaa1	A	G	15: 5,178,778	D509G	probably benign	Het
Rims2	C	T	15: 39,437,043	Q57*	probably null	Het
Rnf40	T	C	7: 127,595,948	V411A	possibly damaging	Het
Rraga	A	G	4: 86,576,444	I176V	probably damaging	Het
Rrm2	T	C	12: 24,708,612	I51T	probably benign	Het
Serpina3a	T	A	12: 104,118,416		probably benign	Het
Skint7	T	C	4: 111,982,012	W168R	probably damaging	Het
Slc27a4	A	G	2: 29,811,267	M357V	probably benign	Het
Slc4a3	A	G	1: 75,551,717	H452R	probably damaging	Het
Smc1b	A	T	15: 85,127,790	I127K	possibly damaging	Het
Snap91	T	A	9: 86,783,417	M383L	probably benign	Het
Taf6l	A	T	19: 8,773,634	L52Q	probably damaging	Het
Tas1r3	G	A	4: 155,860,470	R765C	probably damaging	Het
Tas2r124	A	G	6: 132,755,525	I266V	probably benign	Het
Tesk2	T	C	4: 116,800,621		probably benign	Het
Tmem131l	T	G	3: 83,910,479	Q1237P	possibly damaging	Het
Tmem67	A	G	4: 12,045,789		probably null	Het
Tnfaip8	T	A	18: 50,090,661	C179S	probably damaging	Het
Ush2a	G	A	1: 188,633,729		probably null	Het
Vps13b	A	T	15: 35,917,137	E3709V	probably damaging	Het
Wdr7	A	T	18: 63,865,440	S1153C	probably damaging	Het
Zc2hc1b	A	C	10: 13,171,268		probably benign	Het
Zfp438	A	G	18: 5,213,689	I423T	probably damaging	Het
Zfp783	T	A	6: 47,945,885		noncoding transcript	Het
Zfp804b	A	T	5: 6,771,756	S400T	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
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'- CAGCCGTGAGTGTCATTGTC -3'
(R):5'- TGATCAAACATGTGTAGTTCCGGG -3'

Sequencing Primer
(F):5'- CGTGAGTGTCATTGTCAAGAACACC -3'
(R):5'- GACTGGGAATTTTGACAGAGCTTCC -3'

Posted On

2014-06-23