Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01301:Zfp365'

73228

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp365

Ensembl Gene

ENSMUSG00000037855

Gene Name

zinc finger protein 365

Synonyms

Su48, DBZ

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01301

Quality Score

Status

Chromosome

Chromosomal Location

67886103-67912662 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67909354 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 198 (V198A)

Ref Sequence

ENSEMBL: ENSMUSP00000067197 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064656]

Predicted Effect

probably damaging
Transcript: ENSMUST00000064656
AA Change: V198A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000067197
Gene: ENSMUSG00000037855
AA Change: V198A

Domain	Start	End	E-Value	Type
ZnF_C2H2	26	51	4.05e-1	SMART
coiled coil region	170	298	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138543

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes several isoforms which have different expression patterns and functions. Mutation in this gene is associated with uric acid nephrolithiasis (UAN). Alternatively spliced variants, encoding distinct proteins, have been identified. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal cortical basket cells in the somatosensory cortices, delayed myelination in the corpus callosum during the early postnatal period, and an increase in immature oligodendrocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	T	17: 14,943,919		probably null	Het
Acacb	A	T	5: 114,246,498	I2238L	probably benign	Het
Aldh1l2	T	C	10: 83,522,846	Y95C	probably damaging	Het
Asxl2	A	G	12: 3,501,425	T1056A	probably damaging	Het
B4galnt1	A	G	10: 127,169,779	T250A	possibly damaging	Het
Cela3b	A	T	4: 137,423,843		probably null	Het
Chst3	T	C	10: 60,185,832	T398A	probably damaging	Het
Cngb3	A	G	4: 19,425,625	T478A	probably damaging	Het
Cyp4a10	T	C	4: 115,518,455	L45P	probably damaging	Het
Defb21	A	G	2: 152,574,751	E49G	possibly damaging	Het
Dnajc1	T	C	2: 18,308,834	T159A	probably damaging	Het
Dnmbp	A	G	19: 43,902,354	S325P	probably benign	Het
Fam91a1	T	C	15: 58,442,871	F534L	probably damaging	Het
Fermt2	T	C	14: 45,464,863	E488G	probably damaging	Het
Filip1	T	C	9: 79,819,180	D719G	possibly damaging	Het
Gad1-ps	A	G	10: 99,445,151		noncoding transcript	Het
Glra3	C	A	8: 55,940,962	A36E	probably benign	Het
Gm9884	T	A	1: 25,830,648		probably benign	Het
Hectd2	T	C	19: 36,569,370		probably benign	Het
Hnrnpm	C	T	17: 33,669,168		probably null	Het
Lrrk2	T	A	15: 91,767,339	Y1733N	probably damaging	Het
Mindy1	T	C	3: 95,288,390	L148P	probably damaging	Het
Mkrn2	C	A	6: 115,611,789	Y164*	probably null	Het
Msra	T	C	14: 64,210,435	Y135C	probably damaging	Het
Ndst3	C	T	3: 123,548,916	A749T	probably damaging	Het
Ngdn	G	T	14: 55,017,114	A41S	probably benign	Het
Nlrp12	A	T	7: 3,240,092	S597T	probably damaging	Het
Olfr1451	A	T	19: 12,999,417	I144F	probably damaging	Het
Pabpc6	A	G	17: 9,667,970	S551P	probably benign	Het
Plekhg5	C	T	4: 152,112,553	A752V	probably benign	Het
Prpf4b	T	C	13: 34,884,291	S368P	probably benign	Het
Pus7	A	G	5: 23,746,424		probably null	Het
Rad23b	T	C	4: 55,366,774		probably benign	Het
Rgs13	T	C	1: 144,171,414		probably benign	Het
Sfpq	T	C	4: 127,026,760		probably benign	Het
Slc9a9	T	A	9: 95,055,459	S455T	probably benign	Het
Slco1a1	A	G	6: 141,932,530		probably benign	Het
Tmem26	A	T	10: 68,778,606	N284Y	probably damaging	Het
Tmem87a	T	C	2: 120,380,769	I232V	probably benign	Het
Trpm2	A	G	10: 77,923,984	L1106P	probably damaging	Het
Vmn1r18	T	C	6: 57,389,667		probably benign	Het
Zfp213	G	T	17: 23,561,417	A43D	probably benign	Het
Zfp395	T	A	14: 65,394,751		probably null	Het
Zfp618	G	A	4: 63,132,826	V615M	probably damaging	Het

Other mutations in Zfp365

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03257:Zfp365	APN	10	67889038	missense	possibly damaging	0.76
ANU18:Zfp365	UTSW	10	67909354	missense	probably damaging	1.00
R0482:Zfp365	UTSW	10	67897606	missense	probably damaging	1.00
R1800:Zfp365	UTSW	10	67888942	missense	probably damaging	0.98
R1986:Zfp365	UTSW	10	67909856	missense	probably damaging	1.00
R4279:Zfp365	UTSW	10	67897601	missense	probably benign	0.44
R4475:Zfp365	UTSW	10	67888920	missense	possibly damaging	0.87
R4951:Zfp365	UTSW	10	67889991	critical splice acceptor site	probably null
R5599:Zfp365	UTSW	10	67909367	missense	probably damaging	1.00
R5682:Zfp365	UTSW	10	67909807	missense	probably damaging	1.00
R5697:Zfp365	UTSW	10	67909640	missense	probably benign	0.01
R5837:Zfp365	UTSW	10	67889040	missense	probably damaging	1.00
R5982:Zfp365	UTSW	10	67897607	missense	probably damaging	1.00
R6974:Zfp365	UTSW	10	67909764	missense	probably damaging	1.00
R7043:Zfp365	UTSW	10	67909826	missense	probably damaging	1.00
R7861:Zfp365	UTSW	10	67909919	missense	probably damaging	0.98
Z1176:Zfp365	UTSW	10	67909260	missense	possibly damaging	0.67

Posted On

2013-10-07