Mutagenetix > Incidental Mutation

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01301

Quality Score

Status

Chromosome

Chromosomal Location

67721935-67748492 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67745184 bp (GRCm39)

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]

AlphaFold

Q8BG89

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: 15,164,181 (GRCm39)		probably null	Het
Acacb	A	T	5: 114,384,559 (GRCm39)	I2238L	probably benign	Het
Aldh1l2	T	C	10: 83,358,710 (GRCm39)	Y95C	probably damaging	Het
Asxl2	A	G	12: 3,551,425 (GRCm39)	T1056A	probably damaging	Het
B4galnt1	A	G	10: 127,005,648 (GRCm39)	T250A	possibly damaging	Het
Cela3b	A	T	4: 137,151,154 (GRCm39)		probably null	Het
Chst3	T	C	10: 60,021,654 (GRCm39)	T398A	probably damaging	Het
Cngb3	A	G	4: 19,425,625 (GRCm39)	T478A	probably damaging	Het
Cyp4a10	T	C	4: 115,375,652 (GRCm39)	L45P	probably damaging	Het
Defb21	A	G	2: 152,416,671 (GRCm39)	E49G	possibly damaging	Het
Dnajc1	T	C	2: 18,313,645 (GRCm39)	T159A	probably damaging	Het
Dnmbp	A	G	19: 43,890,793 (GRCm39)	S325P	probably benign	Het
Fam91a1	T	C	15: 58,314,720 (GRCm39)	F534L	probably damaging	Het
Fermt2	T	C	14: 45,702,320 (GRCm39)	E488G	probably damaging	Het
Filip1	T	C	9: 79,726,462 (GRCm39)	D719G	possibly damaging	Het
Gad1-ps	A	G	10: 99,281,013 (GRCm39)		noncoding transcript	Het
Glra3	C	A	8: 56,393,997 (GRCm39)	A36E	probably benign	Het
Gm9884	T	A	1: 25,869,729 (GRCm39)		probably benign	Het
Hectd2	T	C	19: 36,546,770 (GRCm39)		probably benign	Het
Hnrnpm	C	T	17: 33,888,142 (GRCm39)		probably null	Het
Lrrk2	T	A	15: 91,651,542 (GRCm39)	Y1733N	probably damaging	Het
Mindy1	T	C	3: 95,195,701 (GRCm39)	L148P	probably damaging	Het
Mkrn2	C	A	6: 115,588,750 (GRCm39)	Y164*	probably null	Het
Msra	T	C	14: 64,447,884 (GRCm39)	Y135C	probably damaging	Het
Ndst3	C	T	3: 123,342,565 (GRCm39)	A749T	probably damaging	Het
Ngdn	G	T	14: 55,254,571 (GRCm39)	A41S	probably benign	Het
Nlrp12	A	T	7: 3,288,722 (GRCm39)	S597T	probably damaging	Het
Or5b99	A	T	19: 12,976,781 (GRCm39)	I144F	probably damaging	Het
Pabpc6	A	G	17: 9,886,899 (GRCm39)	S551P	probably benign	Het
Plekhg5	C	T	4: 152,197,010 (GRCm39)	A752V	probably benign	Het
Prpf4b	T	C	13: 35,068,274 (GRCm39)	S368P	probably benign	Het
Pus7	A	G	5: 23,951,422 (GRCm39)		probably null	Het
Rad23b	T	C	4: 55,366,774 (GRCm39)		probably benign	Het
Rgs13	T	C	1: 144,047,152 (GRCm39)		probably benign	Het
Sfpq	T	C	4: 126,920,553 (GRCm39)		probably benign	Het
Slc9a9	T	A	9: 94,937,512 (GRCm39)	S455T	probably benign	Het
Slco1a1	A	G	6: 141,878,256 (GRCm39)		probably benign	Het
Tmem26	A	T	10: 68,614,436 (GRCm39)	N284Y	probably damaging	Het
Tmem87a	T	C	2: 120,211,250 (GRCm39)	I232V	probably benign	Het
Trpm2	A	G	10: 77,759,818 (GRCm39)	L1106P	probably damaging	Het
Vmn1r18	T	C	6: 57,366,652 (GRCm39)		probably benign	Het
Zfp213	G	T	17: 23,780,391 (GRCm39)	A43D	probably benign	Het
Zfp395	T	A	14: 65,632,200 (GRCm39)		probably null	Het
Zfp618	G	A	4: 63,051,063 (GRCm39)	V615M	probably damaging	Het

Other mutations in Zfp365

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03257:Zfp365	APN	10	67,724,868 (GRCm39)	missense	possibly damaging	0.76
ANU18:Zfp365	UTSW	10	67,745,184 (GRCm39)	missense	probably damaging	1.00
R0482:Zfp365	UTSW	10	67,733,436 (GRCm39)	missense	probably damaging	1.00
R1800:Zfp365	UTSW	10	67,724,772 (GRCm39)	missense	probably damaging	0.98
R1986:Zfp365	UTSW	10	67,745,686 (GRCm39)	missense	probably damaging	1.00
R4279:Zfp365	UTSW	10	67,733,431 (GRCm39)	missense	probably benign	0.44
R4475:Zfp365	UTSW	10	67,724,750 (GRCm39)	missense	possibly damaging	0.87
R4951:Zfp365	UTSW	10	67,725,821 (GRCm39)	critical splice acceptor site	probably null
R5599:Zfp365	UTSW	10	67,745,197 (GRCm39)	missense	probably damaging	1.00
R5682:Zfp365	UTSW	10	67,745,637 (GRCm39)	missense	probably damaging	1.00
R5697:Zfp365	UTSW	10	67,745,470 (GRCm39)	missense	probably benign	0.01
R5837:Zfp365	UTSW	10	67,724,870 (GRCm39)	missense	probably damaging	1.00
R5982:Zfp365	UTSW	10	67,733,437 (GRCm39)	missense	probably damaging	1.00
R6974:Zfp365	UTSW	10	67,745,594 (GRCm39)	missense	probably damaging	1.00
R7043:Zfp365	UTSW	10	67,745,656 (GRCm39)	missense	probably damaging	1.00
R7861:Zfp365	UTSW	10	67,745,749 (GRCm39)	missense	probably damaging	0.98
R8700:Zfp365	UTSW	10	67,745,535 (GRCm39)	missense	possibly damaging	0.78
R8964:Zfp365	UTSW	10	67,745,088 (GRCm39)	missense	probably damaging	1.00
Z1176:Zfp365	UTSW	10	67,745,090 (GRCm39)	missense	possibly damaging	0.67

Posted On

2013-10-07