Mutagenetix > Incidental Mutation

Incidental Mutation 'R8710:Zfp592'

669501

Institutional Source

Beutler Lab

Gene Symbol

Zfp592

Ensembl Gene

ENSMUSG00000005621

Gene Name

zinc finger protein 592

Synonyms

A730014M16Rik

MMRRC Submission

068564-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R8710 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80643432-80694912 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80673321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 95 (F95S)

Ref Sequence

ENSEMBL: ENSMUSP00000102976 (fasta)

Gene Model

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

AlphaFold

Q8BHZ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000107353
AA Change: F95S

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

SMART Domains

Protein: ENSMUSP00000102976
Gene: ENSMUSG00000005621
AA Change: F95S

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (68/69)

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
Abcb4	A	G	5: 9,005,495 (GRCm39)	N1126S	probably damaging	Het
Ablim2	C	T	5: 36,030,518 (GRCm39)	A581V	possibly damaging	Het
Agpat5	T	A	8: 18,928,105 (GRCm39)	D223E	possibly damaging	Het
Anks3	A	C	16: 4,775,976 (GRCm39)	Y75*	probably null	Het
Ano5	T	G	7: 51,243,419 (GRCm39)	D847E	probably damaging	Het
Asb6	G	T	2: 30,717,072 (GRCm39)	T51K	probably benign	Het
Bahcc1	A	G	11: 120,174,953 (GRCm39)	E1702G	probably damaging	Het
Bend7	A	G	2: 4,767,925 (GRCm39)	M294V	probably benign	Het
Cadm1	T	A	9: 47,759,466 (GRCm39)	D392E	probably damaging	Het
Camkmt	T	C	17: 85,421,277 (GRCm39)		probably benign	Het
Cd300a	A	G	11: 114,785,501 (GRCm39)	T149A	probably benign	Het
Cd69	A	T	6: 129,246,573 (GRCm39)	W153R	possibly damaging	Het
Cdc25c	T	A	18: 34,882,666 (GRCm39)		probably benign	Het
Clnk	A	C	5: 38,931,940 (GRCm39)	C40W	possibly damaging	Het
Cthrc1	T	A	15: 38,947,821 (GRCm39)	L180Q	probably damaging	Het
Cyld	A	G	8: 89,436,523 (GRCm39)	N271S	probably damaging	Het
Dnah14	T	C	1: 181,517,876 (GRCm39)	I2070T	probably benign	Het
Dnah17	A	C	11: 117,932,973 (GRCm39)	L3595R	probably damaging	Het
Edrf1	A	G	7: 133,245,495 (GRCm39)	Y211C	probably damaging	Het
Efcab6	A	G	15: 83,902,849 (GRCm39)	I167T	probably benign	Het
Elavl3	A	T	9: 21,937,849 (GRCm39)	Y148N	probably damaging	Het
Ermardl2	A	T	17: 15,209,194 (GRCm39)	N342I	probably damaging	Het
Fam83c	A	G	2: 155,671,642 (GRCm39)	S598P	probably benign	Het
Gm38119	ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA	ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA	3: 92,645,197 (GRCm39)		probably benign	Het
Helb	A	G	10: 119,941,872 (GRCm39)	L272P	probably damaging	Het
Iars2	A	C	1: 185,027,783 (GRCm39)	V715G	probably benign	Het
Iqgap2	T	G	13: 95,796,756 (GRCm39)	N1133H	probably benign	Het
Kifc5b	T	A	17: 27,139,880 (GRCm39)	M43K	probably damaging	Het
Krtap7-1	T	A	16: 89,305,008 (GRCm39)	Y48F	possibly damaging	Het
Lag3	G	A	6: 124,885,408 (GRCm39)	T324I	probably damaging	Het
Mapkapk2	C	A	1: 130,986,448 (GRCm39)	A97S	possibly damaging	Het
Mettl4	A	G	17: 95,041,072 (GRCm39)	S361P	probably damaging	Het
Myh4	A	G	11: 67,143,158 (GRCm39)	T1029A	probably benign	Het
Nsl1	C	A	1: 190,795,420 (GRCm39)	A62D	probably benign	Het
Oas1e	T	A	5: 120,930,027 (GRCm39)	K164*	probably null	Het
Obsl1	A	G	1: 75,469,326 (GRCm39)	F1205S	probably benign	Het
Or14j2	G	T	17: 37,885,540 (GRCm39)	A258E	probably benign	Het
Or1e1b-ps1	G	A	11: 73,845,694 (GRCm39)	M59I	possibly damaging	Het
Or8c15	C	T	9: 38,121,066 (GRCm39)	A237V	possibly damaging	Het
Or8g18	T	A	9: 39,149,306 (GRCm39)	Y138F	probably benign	Het
Pald1	A	G	10: 61,183,232 (GRCm39)	F334S	probably benign	Het
Pikfyve	A	G	1: 65,255,155 (GRCm39)	E325G	possibly damaging	Het
Plekha8	A	G	6: 54,599,245 (GRCm39)	T215A	probably benign	Het
Ptprq	T	C	10: 107,411,919 (GRCm39)	R1816G	possibly damaging	Het
Ralgps1	G	A	2: 33,035,433 (GRCm39)	L472F	probably damaging	Het
Rasal1	A	T	5: 120,801,002 (GRCm39)	T221S	probably benign	Het
Rfx6	A	G	10: 51,601,501 (GRCm39)	T607A	probably damaging	Het
Rnf214	T	A	9: 45,778,748 (GRCm39)		probably benign	Het
Rtca	A	T	3: 116,291,303 (GRCm39)	Y226N	probably benign	Het
Sash1	T	A	10: 8,656,285 (GRCm39)	N236Y	possibly damaging	Het
Skint11	A	G	4: 114,051,951 (GRCm39)	I100V	probably benign	Het
Skint5	A	T	4: 113,483,787 (GRCm39)	S948R	unknown	Het
Slc25a13	A	T	6: 6,114,238 (GRCm39)	Y279N	probably benign	Het
Slc5a2	T	C	7: 127,864,966 (GRCm39)	L33P	probably damaging	Het
Slco1a5	A	T	6: 142,198,828 (GRCm39)	V279E	probably benign	Het
Ssh3	G	T	19: 4,313,833 (GRCm39)	H475Q	probably benign	Het
Tapt1	A	G	5: 44,351,743 (GRCm39)	S107P	probably benign	Het
Tjp2	T	C	19: 24,072,796 (GRCm39)	E1166G	probably damaging	Het
Tll1	A	G	8: 64,577,940 (GRCm39)	L89P	possibly damaging	Het
Tmc4	G	T	7: 3,678,463 (GRCm39)	T123N	probably benign	Het
Tmem139	A	G	6: 42,241,021 (GRCm39)	D202G	probably damaging	Het
Trim35	T	C	14: 66,545,367 (GRCm39)	S313P	probably damaging	Het
Ttc23l	A	G	15: 10,540,021 (GRCm39)	I154T	probably damaging	Het
Ttc9c	T	C	19: 8,795,860 (GRCm39)	T60A	probably benign	Het
Wdfy3	G	T	5: 102,030,349 (GRCm39)	N2386K	probably damaging	Het
Wdpcp	C	A	11: 21,610,924 (GRCm39)	Q49K	probably benign	Het
Xrn1	A	T	9: 95,884,285 (GRCm39)	Y867F		Het
Zfp423	C	T	8: 88,507,549 (GRCm39)	E932K	possibly damaging	Het
Zfp644	T	G	5: 106,782,997 (GRCm39)	N1095H	probably damaging	Het
Zfp983	A	T	17: 21,880,234 (GRCm39)	N54I	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
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'- AGTCTTGATGCAAAGGAGGC -3'
(R):5'- TATCTTTGACAGGATCCTCAGGC -3'

Sequencing Primer
(F):5'- ATCCAGGCTCCCAGTGAG -3'
(R):5'- ACAGGATCCTCAGGCTCTGG -3'

Posted On

2021-04-30