Mutagenetix > Incidental Mutation

Incidental Mutation 'R3701:Zfp592'

258516

Institutional Source

Beutler Lab

Gene Symbol

Zfp592

Ensembl Gene

ENSMUSG00000005621

Gene Name

zinc finger protein 592

Synonyms

A730014M16Rik

MMRRC Submission

040694-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R3701 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80643432-80694912 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 80687159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 821 (R821*)

Ref Sequence

ENSEMBL: ENSMUSP00000102976 (fasta)

Gene Model

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

AlphaFold

Q8BHZ4

Predicted Effect

probably null
Transcript: ENSMUST00000107353
AA Change: R821*

SMART Domains

Protein: ENSMUSP00000102976
Gene: ENSMUSG00000005621
AA Change: R821*

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: ENSMUST00000125137

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149508

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

97% (37/38)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	A	C	15: 74,416,864 (GRCm39)	K757T	probably damaging	Het
Akr1c19	C	T	13: 4,293,032 (GRCm39)	R263C	probably damaging	Het
Asxl1	A	G	2: 153,241,264 (GRCm39)	T605A	probably benign	Het
Cacna1i	A	T	15: 80,265,272 (GRCm39)		probably benign	Het
Clip4	A	G	17: 72,106,003 (GRCm39)	D62G	probably damaging	Het
Cstf1	A	G	2: 172,222,312 (GRCm39)	T357A	probably benign	Het
Cul5	T	C	9: 53,540,516 (GRCm39)	K499E	probably damaging	Het
Cyld	T	A	8: 89,456,179 (GRCm39)	S407T	probably benign	Het
Dnph1	G	A	17: 46,809,637 (GRCm39)	G101S	possibly damaging	Het
Entrep1	T	C	19: 23,956,831 (GRCm39)	E354G	probably benign	Het
Esp38	A	T	17: 40,266,112 (GRCm39)	R74*	probably null	Het
Fdxr	A	T	11: 115,160,527 (GRCm39)	L336Q	probably damaging	Het
Hivep1	T	C	13: 42,311,203 (GRCm39)	S1148P	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Itgb1bp2	T	C	X: 100,495,293 (GRCm39)		probably benign	Het
Kcnj5	T	C	9: 32,229,124 (GRCm39)	T25A	possibly damaging	Het
Lyn	A	G	4: 3,742,455 (GRCm39)	H28R	probably benign	Het
Nbeal1	C	T	1: 60,290,572 (GRCm39)		probably benign	Het
Nmur2	A	G	11: 55,931,603 (GRCm39)	L36P	probably damaging	Het
Or14j3	G	A	17: 37,900,717 (GRCm39)	Q176*	probably null	Het
Or6c5c	A	T	10: 129,298,821 (GRCm39)	Y92F	probably damaging	Het
Or9i14	T	G	19: 13,792,712 (GRCm39)	I81L	probably benign	Het
Pdgfra	T	A	5: 75,340,881 (GRCm39)	Y613*	probably null	Het
Phka2	T	C	X: 159,316,045 (GRCm39)	V230A	possibly damaging	Het
Pkd2l1	A	G	19: 44,145,666 (GRCm39)	S186P	probably damaging	Het
Skic3	T	C	13: 76,261,798 (GRCm39)	I171T	probably benign	Het
Snx14	T	C	9: 88,302,296 (GRCm39)		probably benign	Het
Tex15	T	C	8: 34,064,194 (GRCm39)	V1208A	probably benign	Het
Tmf1	A	G	6: 97,149,292 (GRCm39)	F485S	possibly damaging	Het
Tnfsf4	G	A	1: 161,244,778 (GRCm39)	V156I	possibly damaging	Het
Trdn	C	A	10: 33,210,980 (GRCm39)	Q391K	probably damaging	Het
Ttc34	T	C	4: 154,949,939 (GRCm39)	F964S	probably damaging	Het
Vmn2r104	A	G	17: 20,249,818 (GRCm39)	S818P	probably damaging	Het
Zbed5	G	A	5: 129,932,000 (GRCm39)	D650N	possibly damaging	Het
Zfp446	G	A	7: 12,712,079 (GRCm39)		probably benign	Het
Zfp647	G	A	15: 76,795,110 (GRCm39)	R517W	probably damaging	Het
Zfp983	G	C	17: 21,880,455 (GRCm39)	E128Q	probably damaging	Het

Other mutations in Zfp592

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01331:Zfp592	APN	7	80,691,296 (GRCm39)	nonsense	probably null
IGL01984:Zfp592	APN	7	80,688,392 (GRCm39)	missense	probably benign	0.00
IGL02079:Zfp592	APN	7	80,688,978 (GRCm39)	missense	probably benign	0.20
IGL02096:Zfp592	APN	7	80,674,796 (GRCm39)	missense	probably damaging	1.00
IGL02125:Zfp592	APN	7	80,687,932 (GRCm39)	missense	probably benign	0.00
IGL02374:Zfp592	APN	7	80,674,731 (GRCm39)	missense	probably damaging	1.00
IGL02419:Zfp592	APN	7	80,687,993 (GRCm39)	missense	probably damaging	1.00
IGL02466:Zfp592	APN	7	80,673,746 (GRCm39)	missense	probably damaging	1.00
IGL02485:Zfp592	APN	7	80,687,718 (GRCm39)	splice site	probably benign
IGL02500:Zfp592	APN	7	80,691,474 (GRCm39)	missense	probably benign
IGL02876:Zfp592	APN	7	80,687,875 (GRCm39)	missense	probably benign	0.01
IGL02940:Zfp592	APN	7	80,674,575 (GRCm39)	missense	probably damaging	1.00
R0326:Zfp592	UTSW	7	80,674,637 (GRCm39)	missense	possibly damaging	0.83
R0634:Zfp592	UTSW	7	80,687,819 (GRCm39)	missense	probably damaging	1.00
R0684:Zfp592	UTSW	7	80,687,623 (GRCm39)	missense	probably benign	0.00
R0750:Zfp592	UTSW	7	80,674,493 (GRCm39)	missense	probably benign
R1346:Zfp592	UTSW	7	80,687,812 (GRCm39)	missense	possibly damaging	0.54
R1457:Zfp592	UTSW	7	80,674,227 (GRCm39)	missense	probably damaging	0.99
R1650:Zfp592	UTSW	7	80,687,848 (GRCm39)	missense	probably benign	0.04
R1804:Zfp592	UTSW	7	80,673,443 (GRCm39)	missense	probably damaging	1.00
R1918:Zfp592	UTSW	7	80,687,168 (GRCm39)	nonsense	probably null
R2114:Zfp592	UTSW	7	80,674,544 (GRCm39)	missense	probably damaging	1.00
R2144:Zfp592	UTSW	7	80,687,950 (GRCm39)	missense	probably benign	0.01
R2164:Zfp592	UTSW	7	80,691,186 (GRCm39)	missense	possibly damaging	0.87
R2246:Zfp592	UTSW	7	80,691,361 (GRCm39)	missense	possibly damaging	0.91
R3809:Zfp592	UTSW	7	80,674,280 (GRCm39)	missense	probably benign	0.00
R4574:Zfp592	UTSW	7	80,673,534 (GRCm39)	missense	possibly damaging	0.87
R4866:Zfp592	UTSW	7	80,691,607 (GRCm39)	missense	probably damaging	1.00
R5023:Zfp592	UTSW	7	80,674,095 (GRCm39)	missense	probably damaging	1.00
R5121:Zfp592	UTSW	7	80,673,309 (GRCm39)	missense	probably damaging	1.00
R5174:Zfp592	UTSW	7	80,688,073 (GRCm39)	missense	probably damaging	1.00
R5794:Zfp592	UTSW	7	80,674,781 (GRCm39)	missense	probably benign	0.00
R5946:Zfp592	UTSW	7	80,687,645 (GRCm39)	missense	possibly damaging	0.95
R6312:Zfp592	UTSW	7	80,673,184 (GRCm39)	missense	probably benign	0.05
R6657:Zfp592	UTSW	7	80,675,234 (GRCm39)	missense	possibly damaging	0.49
R6814:Zfp592	UTSW	7	80,673,576 (GRCm39)	missense	probably benign	0.02
R6872:Zfp592	UTSW	7	80,673,576 (GRCm39)	missense	probably benign	0.02
R7056:Zfp592	UTSW	7	80,673,067 (GRCm39)	missense	probably damaging	1.00
R7295:Zfp592	UTSW	7	80,674,070 (GRCm39)	missense	probably damaging	1.00
R7351:Zfp592	UTSW	7	80,691,439 (GRCm39)	missense	probably benign	0.00
R7475:Zfp592	UTSW	7	80,673,200 (GRCm39)	missense	probably damaging	0.99
R7509:Zfp592	UTSW	7	80,688,088 (GRCm39)	missense	probably damaging	0.99
R7552:Zfp592	UTSW	7	80,673,390 (GRCm39)	missense	probably benign	0.01
R7737:Zfp592	UTSW	7	80,674,941 (GRCm39)	missense	probably damaging	1.00
R7752:Zfp592	UTSW	7	80,674,469 (GRCm39)	missense	probably benign	0.13
R7901:Zfp592	UTSW	7	80,674,469 (GRCm39)	missense	probably benign	0.13
R8100:Zfp592	UTSW	7	80,673,940 (GRCm39)	missense	probably benign	0.05
R8440:Zfp592	UTSW	7	80,691,271 (GRCm39)	missense	possibly damaging	0.89
R8710:Zfp592	UTSW	7	80,673,321 (GRCm39)	missense	probably damaging	1.00
R8766:Zfp592	UTSW	7	80,674,353 (GRCm39)	missense	probably benign	0.00
R9083:Zfp592	UTSW	7	80,674,644 (GRCm39)	missense	possibly damaging	0.95
R9141:Zfp592	UTSW	7	80,674,205 (GRCm39)	missense	probably damaging	1.00
R9194:Zfp592	UTSW	7	80,674,349 (GRCm39)	missense	probably benign
R9197:Zfp592	UTSW	7	80,674,067 (GRCm39)	missense	possibly damaging	0.73
R9246:Zfp592	UTSW	7	80,691,529 (GRCm39)	missense	probably benign	0.03
R9321:Zfp592	UTSW	7	80,691,226 (GRCm39)	missense	possibly damaging	0.65
R9426:Zfp592	UTSW	7	80,674,205 (GRCm39)	missense	probably damaging	1.00
R9785:Zfp592	UTSW	7	80,673,245 (GRCm39)	missense	probably damaging	1.00
X0022:Zfp592	UTSW	7	80,687,935 (GRCm39)	nonsense	probably null
X0028:Zfp592	UTSW	7	80,673,762 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAACCTATAGGCTGGAATG -3'
(R):5'- ATGTCCTCAGGAGACTCCAC -3'

Sequencing Primer
(F):5'- CAACCTATAGGCTGGAATGAGGGAG -3'
(R):5'- TTGTACCACCCTTACAGCATCCAG -3'

Posted On

2015-01-23