Mutagenetix > Incidental Mutation

Incidental Mutation 'R9246:Zfp592'

701294

Institutional Source

Beutler Lab

Gene Symbol

Zfp592

Ensembl Gene

ENSMUSG00000005621

Gene Name

zinc finger protein 592

Synonyms

A730014M16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R9246 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80643432-80694912 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80691529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1236 (D1236V)

Ref Sequence

ENSEMBL: ENSMUSP00000102976 (fasta)

Gene Model

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

AlphaFold

Q8BHZ4

Predicted Effect

probably benign
Transcript: ENSMUST00000107353
AA Change: D1236V

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000102976
Gene: ENSMUSG00000005621
AA Change: D1236V

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: 98.9%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,279,961 (GRCm39)	T314I	probably benign	Het
Abca7	G	A	10: 79,838,535 (GRCm39)	S603N	probably damaging	Het
Abcc2	T	C	19: 43,786,882 (GRCm39)	F168L	probably benign	Het
Abcc8	T	C	7: 45,774,289 (GRCm39)	T764A	probably benign	Het
Acot4	A	C	12: 84,090,097 (GRCm39)	I265L	probably benign	Het
Adrb2	C	A	18: 62,312,226 (GRCm39)	A200S	probably damaging	Het
Atp2c2	G	T	8: 120,456,989 (GRCm39)	R197L	probably damaging	Het
Bmpr1a	T	C	14: 34,156,664 (GRCm39)	T121A	probably benign	Het
Brwd1	A	T	16: 95,804,016 (GRCm39)	S2051R	probably benign	Het
Card10	T	C	15: 78,673,036 (GRCm39)	E547G	possibly damaging	Het
Cbln1	A	T	8: 88,197,048 (GRCm39)	I139N	probably damaging	Het
Ccdc86	CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA	CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA	19: 10,926,162 (GRCm39)		probably benign	Het
Cdh16	C	T	8: 105,344,602 (GRCm39)	D510N	probably benign	Het
Cdh2	G	A	18: 16,781,654 (GRCm39)	Q146*	probably null	Het
Cdhr1	T	G	14: 36,801,654 (GRCm39)	K763T	possibly damaging	Het
Cfl1	G	C	19: 5,543,634 (GRCm39)	G204R	probably damaging	Het
Clcn6	A	T	4: 148,113,866 (GRCm39)	V64E	probably benign	Het
Col4a4	G	A	1: 82,430,956 (GRCm39)	P1649S	unknown	Het
Ctnna1	T	A	18: 35,356,562 (GRCm39)	N410K	probably benign	Het
Dhx34	A	G	7: 15,937,162 (GRCm39)	F845S	probably damaging	Het
Dnah7c	T	G	1: 46,571,934 (GRCm39)	N802K	possibly damaging	Het
Dnmt3a	T	C	12: 3,949,204 (GRCm39)	S492P	probably damaging	Het
Fhit	C	A	14: 10,421,494 (GRCm38)		probably null	Het
Fzd2	A	T	11: 102,496,749 (GRCm39)	I398F	possibly damaging	Het
Gm9195	A	G	14: 72,710,314 (GRCm39)	S457P	probably benign	Het
Gnao1	A	G	8: 94,676,967 (GRCm39)	K211E		Het
Gzme	T	C	14: 56,356,198 (GRCm39)	D100G	probably benign	Het
Hook3	T	C	8: 26,562,319 (GRCm39)	T249A	probably benign	Het
Hoxd4	G	A	2: 74,558,747 (GRCm39)	C190Y	possibly damaging	Het
Hr	T	A	14: 70,808,915 (GRCm39)	V1097E	probably damaging	Het
Iqca1l	T	G	5: 24,753,969 (GRCm39)	E430A	probably benign	Het
Kdm3b	A	T	18: 34,941,480 (GRCm39)	K524*	probably null	Het
Kif18a	A	G	2: 109,163,819 (GRCm39)	T723A	probably benign	Het
Kif1a	A	G	1: 93,005,501 (GRCm39)	V91A	probably damaging	Het
Krtap19-2	AAAGCCTCCAAAGCCTCCATAGCCAGAGCCATATCCGAAGCCTCCA	AAAGCCTCCA	16: 88,670,859 (GRCm39)		probably benign	Het
Lama3	G	A	18: 12,710,959 (GRCm39)	V1559M	probably damaging	Het
Maco1	A	G	4: 134,565,242 (GRCm39)	V47A	possibly damaging	Het
Msto1	A	T	3: 88,819,411 (GRCm39)	I160N	probably damaging	Het
Muc5ac	C	A	7: 141,364,215 (GRCm39)	Q2509K	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Or1ad8	T	A	11: 50,897,891 (GRCm39)	F31I	probably damaging	Het
Or2ag2b	C	T	7: 106,417,938 (GRCm39)	T216I	probably benign	Het
Or52ad1	C	T	7: 102,995,908 (GRCm39)	V76I	probably damaging	Het
Or7e170	T	C	9: 19,795,686 (GRCm39)		probably benign	Het
Or8k21	A	T	2: 86,145,222 (GRCm39)	M136K	probably damaging	Het
Pik3c3	C	A	18: 30,466,364 (GRCm39)	A805D	probably damaging	Het
Pnn	A	G	12: 59,116,929 (GRCm39)	Q167R	probably damaging	Het
Pogk	G	T	1: 166,226,380 (GRCm39)	H590Q	probably damaging	Het
Prkcd	A	G	14: 30,327,432 (GRCm39)	L251P	probably damaging	Het
Prrc1	T	A	18: 57,496,208 (GRCm39)	V53E	probably benign	Het
Ripor1	T	C	8: 106,345,522 (GRCm39)	F856S	unknown	Het
Rnf31	G	A	14: 55,833,698 (GRCm39)	A569T	probably benign	Het
Robo1	T	A	16: 72,769,178 (GRCm39)	D532E	probably benign	Het
Sh2d6	T	A	6: 72,497,594 (GRCm39)	K3*	probably null	Het
Slc22a27	T	C	19: 7,874,209 (GRCm39)	T289A	probably benign	Het
Speg	T	C	1: 75,361,498 (GRCm39)	S171P	probably damaging	Het
Stag1	T	A	9: 100,770,329 (GRCm39)	F622I	probably benign	Het
Stxbp1	T	C	2: 32,679,586 (GRCm39)	D589G	possibly damaging	Het
Syne1	T	C	10: 5,255,706 (GRCm39)	I2391M	probably benign	Het
Sytl2	A	G	7: 90,007,384 (GRCm39)	M49V	probably benign	Het
Tmem185b	T	C	1: 119,454,368 (GRCm39)	V43A	probably damaging	Het
Trappc8	A	T	18: 20,993,590 (GRCm39)	M499K	possibly damaging	Het
Vmn1r172	T	A	7: 23,359,593 (GRCm39)	S159R	possibly damaging	Het
Vmn1r62	A	G	7: 5,678,628 (GRCm39)	Y103C	probably damaging	Het
Vmn1r65	C	T	7: 6,011,769 (GRCm39)	C155Y	possibly damaging	Het
Vmn2r112	G	A	17: 22,824,088 (GRCm39)	V448I	probably benign	Het
Zfp827	T	C	8: 79,803,132 (GRCm39)	V568A	possibly damaging	Het
Zscan4-ps3	A	T	7: 11,346,320 (GRCm39)	I147F	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
R3701:Zfp592	UTSW	7	80,687,159 (GRCm39)	nonsense	probably null
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
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'- AACCGCCACCTGTTCATAGTC -3'
(R):5'- CAGAATAGACACTGCTCCAGAG -3'

Sequencing Primer
(F):5'- CCTGTTCATAGTCCACAAAGTGAGAG -3'
(R):5'- TCCAGAGCACAGTGGCCAC -3'

Posted On

2022-03-25