Mutagenetix > Incidental Mutation

Incidental Mutation 'R7043:Zfp365'

547167

Institutional Source

Beutler Lab

Gene Symbol

Zfp365

Ensembl Gene

ENSMUSG00000037855

Gene Name

zinc finger protein 365

Synonyms

Su48, DBZ

MMRRC Submission

045142-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7043 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67721935-67748492 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67745656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 41 (S41P)

Ref Sequence

ENSEMBL: ENSMUSP00000067197 (fasta)

Gene Model

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

AlphaFold

Q8BG89

Predicted Effect

probably damaging
Transcript: ENSMUST00000064656
AA Change: S41P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000067197
Gene: ENSMUSG00000037855
AA Change: S41P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,484,474 (GRCm39)	L1596P	probably damaging	Het
Actr3b	A	G	5: 26,054,936 (GRCm39)	M329V	probably benign	Het
Avpr1a	C	T	10: 122,285,586 (GRCm39)	R293C	probably damaging	Het
Bdp1	A	T	13: 100,215,215 (GRCm39)	C390S	probably benign	Het
C2cd2l	A	T	9: 44,227,848 (GRCm39)	M131K	probably damaging	Het
Ccna2	T	C	3: 36,624,302 (GRCm39)		probably benign	Het
Cd53	T	C	3: 106,670,577 (GRCm39)	D152G	probably damaging	Het
Cdpf1	A	T	15: 85,692,485 (GRCm39)	V66E	probably null	Het
Chd9	G	T	8: 91,760,843 (GRCm39)		probably benign	Het
Crybg2	A	G	4: 133,818,447 (GRCm39)	D1710G	probably benign	Het
Dst	A	G	1: 34,296,992 (GRCm39)	T5794A	probably damaging	Het
Eif2s1	G	T	12: 78,923,882 (GRCm39)	R113L	probably damaging	Het
Eif5	A	G	12: 111,511,030 (GRCm39)	D423G	probably benign	Het
Eri1	A	C	8: 35,945,792 (GRCm39)	D164E	probably damaging	Het
F7	A	T	8: 13,083,997 (GRCm39)	R227S	probably benign	Het
Gm14496	T	G	2: 181,642,120 (GRCm39)	I597S	possibly damaging	Het
Gpr85	T	A	6: 13,835,876 (GRCm39)	N343Y	probably damaging	Het
H2-T23	A	T	17: 36,342,803 (GRCm39)	S112T	probably damaging	Het
Itga9	C	T	9: 118,598,184 (GRCm39)	P573S	probably damaging	Het
Kcnb2	A	T	1: 15,383,150 (GRCm39)	M159L	probably benign	Het
Kmt5b	T	A	19: 3,865,220 (GRCm39)	S738R	possibly damaging	Het
Lrp1b	T	C	2: 40,812,426 (GRCm39)	N2393S	possibly damaging	Het
Mme	T	A	3: 63,252,638 (GRCm39)	Y427*	probably null	Het
Naip1	A	G	13: 100,563,422 (GRCm39)	V581A	probably damaging	Het
Ndel1	A	G	11: 68,713,450 (GRCm39)	L329P	possibly damaging	Het
Nthl1	T	G	17: 24,857,644 (GRCm39)	V281G	probably benign	Het
Or52ab2	C	A	7: 102,970,292 (GRCm39)		probably benign	Het
Per2	G	T	1: 91,347,130 (GRCm39)	H1197Q	probably benign	Het
Phf8-ps	T	C	17: 33,284,306 (GRCm39)	D832G	possibly damaging	Het
Plec	G	A	15: 76,093,328 (GRCm39)		probably benign	Het
Prpf6	A	T	2: 181,291,297 (GRCm39)	H704L	probably benign	Het
Recql5	C	T	11: 115,821,502 (GRCm39)		probably null	Het
Rimbp3	G	A	16: 17,028,972 (GRCm39)	V799M	probably damaging	Het
Sema3f	C	T	9: 107,568,599 (GRCm39)	A169T	possibly damaging	Het
Serpinb9f	T	C	13: 33,509,970 (GRCm39)	I54T	possibly damaging	Het
Skint5	A	T	4: 113,574,304 (GRCm39)	L749Q	unknown	Het
Slc35g3	T	C	11: 69,652,476 (GRCm39)	D12G	probably benign	Het
Sptbn1	A	G	11: 30,053,323 (GRCm39)	V2252A	probably benign	Het
Stab2	T	C	10: 86,706,110 (GRCm39)	N1750S	probably damaging	Het
Supt5	C	A	7: 28,019,435 (GRCm39)	R543L	probably benign	Het
Syne1	T	C	10: 5,022,193 (GRCm39)	E7806G	possibly damaging	Het
Syt12	T	A	19: 4,501,049 (GRCm39)	M334L	probably benign	Het
Tk1	A	G	11: 117,706,779 (GRCm39)	*234R	probably null	Het
Trp73	T	G	4: 154,151,464 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,727,477 (GRCm39)		probably benign	Het
Vmn2r11	T	C	5: 109,200,098 (GRCm39)	I452V	probably benign	Het
Wwox	G	T	8: 115,406,578 (GRCm39)	V190L	probably damaging	Het
Wwp2	A	G	8: 108,184,532 (GRCm39)	H80R	probably benign	Het
Zc3h3	A	G	15: 75,681,485 (GRCm39)	I532T	probably damaging	Het
Zfp280d	A	G	9: 72,226,539 (GRCm39)	K328E	probably damaging	Het

Other mutations in Zfp365

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01301:Zfp365	APN	10	67,745,184 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CTCAAAGGGTTTCGTGTCCTTG -3'
(R):5'- TGACAGACCTGTAAACTGGGG -3'

Sequencing Primer
(F):5'- GCTGTACAAGTTAACATAGCTCGAC -3'
(R):5'- ACAGACCTGTAAACTGGGGTCTTC -3'

Posted On

2019-05-13