Mutagenetix > Incidental Mutation

Incidental Mutation 'R6312:Zfp592'

509816

Institutional Source

Beutler Lab

Gene Symbol

Zfp592

Ensembl Gene

ENSMUSG00000005621

Gene Name

zinc finger protein 592

Synonyms

MMRRC Submission

044415-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.937) question?

Stock #

R6312 (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 A at 81023436 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 49 (D49E)

Ref Sequence

ENSEMBL: ENSMUSP00000102976 (fasta)

Gene Model

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

AlphaFold

Q8BHZ4

Predicted Effect

probably benign
Transcript: ENSMUST00000107353
AA Change: D49E

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102976
Gene: ENSMUSG00000005621
AA Change: D49E

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	G	12: 72,889,767	S472P	possibly damaging	Het
9430007A20Rik	A	T	4: 144,528,502	H164L	probably benign	Het
Abraxas2	G	A	7: 132,874,965	A145T	probably damaging	Het
AC153874.1	T	A	10: 77,847,127		probably benign	Het
Acadvl	T	A	11: 70,011,767	M375L	probably damaging	Het
Ankdd1a	C	T	9: 65,508,061	A227T	possibly damaging	Het
Arl4d	T	C	11: 101,667,253	*202R	probably null	Het
B3gat2	G	T	1: 23,815,467	E83*	probably null	Het
BC017158	T	C	7: 128,273,543	K411R	probably benign	Het
Bmper	C	A	9: 23,406,791	Q569K	possibly damaging	Het
C2cd4d	C	A	3: 94,364,435	P336H	probably damaging	Het
Cct2	A	T	10: 117,056,055	S363T	probably benign	Het
Cers5	A	G	15: 99,747,115	V119A	probably benign	Het
Cfhr2	C	T	1: 139,831,079	V78I	possibly damaging	Het
Crocc2	A	T	1: 93,215,710	K1345*	probably null	Het
Cyp4f39	T	C	17: 32,483,294	M255T	probably benign	Het
Dpp6	A	T	5: 27,725,671	I834F	possibly damaging	Het
Dpy19l4	T	A	4: 11,289,671	K205*	probably null	Het
Epg5	T	A	18: 77,979,211	D1056E	possibly damaging	Het
Fam20a	A	C	11: 109,674,630	C452G	probably damaging	Het
Gnai2	A	T	9: 107,635,117	V34E	probably damaging	Het
Gng3	A	G	19: 8,838,633	V7A	probably benign	Het
Hdc	A	G	2: 126,607,406	V77A	possibly damaging	Het
Hint1	G	A	11: 54,869,990	C85Y	probably benign	Het
Kif17	C	T	4: 138,288,193	S551L	probably benign	Het
Lgr5	A	G	10: 115,452,924	L581P	probably damaging	Het
Lig4	G	T	8: 9,971,739	N680K	probably benign	Het
Lipi	T	A	16: 75,573,915	Y138F	probably damaging	Het
Lrp2	C	T	2: 69,436,681	G4294E	probably damaging	Het
Lrrc7	A	G	3: 158,160,609	M1165T	probably benign	Het
Mtpap	T	C	18: 4,396,175	I489T	possibly damaging	Het
Nlrp1b	T	A	11: 71,228,397	N24I	probably benign	Het
Nlrp4a	A	G	7: 26,449,396	T143A	probably benign	Het
Nudt2	A	G	4: 41,480,386	T90A	probably benign	Het
Olfr1055	A	T	2: 86,347,581	F62I	probably damaging	Het
Olfr352	A	T	2: 36,870,465	I300L	probably benign	Het
Olfr659	T	A	7: 104,671,589	Y296N	probably damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Olfr883	TTGCTGT	TTGCTGTCTGCTGT	9: 38,026,541		probably null	Het
Olfr883	GTTT	GTTTGCTGTTTT	9: 38,026,546		probably null	Het
Olfr883	TTT	TTTGCTGATT	9: 38,026,547		probably null	Het
Olfr883	T	TGCTGTTC	9: 38,026,549		probably null	Het
Osmr	A	G	15: 6,823,638	V592A	probably damaging	Het
Rbp2	G	T	9: 98,490,647	S13I	probably benign	Het
Rsf1	A	AGGGCGACGG	7: 97,579,904		probably null	Het
Slc6a7	A	G	18: 61,002,385	S381P	probably benign	Het
Slitrk6	A	G	14: 110,750,247	L676P	probably benign	Het
Sspo	T	C	6: 48,457,366		probably null	Het
Tectb	CT	C	19: 55,192,662		probably null	Homo
Tma16	T	C	8: 66,481,466	E79G	probably damaging	Het
Trim14	G	T	4: 46,507,257	H320N	probably damaging	Het
Trim63	A	G	4: 134,325,697	D323G	probably damaging	Het
Vash2	C	A	1: 190,958,683	R309L	probably benign	Het
Vmn1r62	G	A	7: 5,676,084	V255M	possibly damaging	Het
Vmn2r53	T	A	7: 12,598,639		probably null	Het
Zfp382	G	A	7: 30,134,538	R538H	probably damaging	Het
Zfp60	T	C	7: 27,748,776	C290R	probably damaging	Het
Zfp69	G	A	4: 120,949,517		probably benign	Het
Zfp790	G	T	7: 29,828,222	G111W	probably damaging	Het
Zfp948	T	C	17: 21,587,167	I207T	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
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'- AGTACTTGTCAGCATCCAGC -3'
(R):5'- GCTCTAGCTTGCTTGTGAAAC -3'

Sequencing Primer
(F):5'- CCATGGGGGATATGAAAACTCC -3'
(R):5'- GTAGAATCAAACTTCCCACAGTGGTG -3'

Posted On

2018-04-02