Mutagenetix > Incidental Mutation

Incidental Mutation 'R8766:Zfp592'

667885

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 #

R8766 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80993681-81045164 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81024605 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 439 (H439L)

Ref Sequence

ENSEMBL: ENSMUSP00000102976 (fasta)

Gene Model

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

AlphaFold

Q8BHZ4

Predicted Effect

probably benign
Transcript: ENSMUST00000107353
AA Change: H439L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102976
Gene: ENSMUSG00000005621
AA Change: H439L

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: 99.7%
20x: 99.2%

Validation Efficiency

100% (49/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	A	14: 49,774,040	N70I	probably damaging	Het
Actr10	T	G	12: 70,954,656		probably null	Het
Amz1	A	G	5: 140,748,166	N166D	probably benign	Het
Asah2	A	G	19: 32,057,880	F15S	possibly damaging	Het
Axin2	A	G	11: 108,923,831	M182V	probably damaging	Het
Cacna1s	T	C	1: 136,075,143	L326P	probably damaging	Het
Ccdc130	C	T	8: 84,261,794	R68H	probably damaging	Het
Ccdc169	T	C	3: 55,150,824		probably null	Het
Cct8	A	T	16: 87,488,868	V234D	probably damaging	Het
Cdh19	T	C	1: 110,890,114	R633G	probably benign	Het
Clca1	A	T	3: 145,009,178		probably benign	Het
Crat	G	A	2: 30,407,063	P293S	probably benign	Het
Crybg3	G	A	16: 59,555,333	R139C	probably benign	Het
Ctbs	A	G	3: 146,459,833	N301S	possibly damaging	Het
Cyp4x1	T	C	4: 115,110,065	H438R	probably damaging	Het
Dglucy	C	A	12: 100,871,447	H616Q	probably benign	Het
Dync1i1	T	A	6: 5,767,142	L74Q	possibly damaging	Het
Epn1	T	C	7: 5,092,861	S167P	possibly damaging	Het
Fbxw28	T	C	9: 109,326,681	E341G	probably benign	Het
Gk2	T	A	5: 97,456,251	M243L	probably benign	Het
Grhl3	T	A	4: 135,573,413	E4D	probably benign	Het
Hsd17b13	T	C	5: 103,977,143	K58R	probably benign	Het
Ighd5-7	G	A	12: 113,464,528	Q9*	probably null	Het
Izumo1	G	A	7: 45,627,072	S353N	probably benign	Het
Klhl31	T	C	9: 77,650,163	S54P	possibly damaging	Het
Lonp2	T	C	8: 86,636,570	M272T	probably benign	Het
Ltbp1	T	A	17: 75,296,255	C682*	probably null	Het
Magi2	A	G	5: 20,195,125	K52E	probably benign	Het
Nab2	C	T	10: 127,666,548		probably benign	Het
Ncapg2	T	A	12: 116,426,736	V435D	probably damaging	Het
Nid2	A	G	14: 19,752,272	D87G	probably benign	Het
Olfr461	T	C	6: 40,544,551	M143V	probably benign	Het
Olfr518	A	G	7: 108,881,246	M120T	probably benign	Het
Pamr1	T	C	2: 102,550,193	M1T	probably null	Het
Pard3b	T	C	1: 62,159,478	C242R	probably benign	Het
Pcif1	T	A	2: 164,885,426	V106E	probably benign	Het
Pitx2	T	A	3: 129,218,574	F218I	probably damaging	Het
Ppip5k1	G	T	2: 121,336,438	Y877*	probably null	Het
Prkch	A	G	12: 73,702,538	N354S	probably benign	Het
Psen2	T	A	1: 180,245,636	D40V	probably benign	Het
Rfx7	T	A	9: 72,616,739	S404T	possibly damaging	Het
Ryr2	T	A	13: 11,668,969	T3070S	probably damaging	Het
Slc24a4	A	G	12: 102,230,452	D263G	probably benign	Het
Tox	T	C	4: 6,823,047	E90G	probably damaging	Het
Unc13b	C	T	4: 43,174,722	S1850L	unknown	Het
Vmn1r5	T	A	6: 56,986,115	D258E	possibly damaging	Het
Vmn2r84	C	T	10: 130,386,372	V660M	probably damaging	Het
Zfp775	A	T	6: 48,620,179	H329L	probably damaging	Het
Zswim5	T	C	4: 116,958,807	L364P	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
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
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'- CAAAACAATTAAGACATCATCGGGG -3'
(R):5'- TTCAAGTTGGCCAAGTGCAC -3'

Sequencing Primer
(F):5'- TTAAGACATCATCGGGGGAAATC -3'
(R):5'- TGGCCAAGTGCACAGCTTTG -3'

Posted On

2021-03-08