Mutagenetix > Incidental Mutation

Incidental Mutation 'R4951:Zfp365'

444538

Institutional Source

Beutler Lab

Gene Symbol

Zfp365

Ensembl Gene

ENSMUSG00000037855

Gene Name

zinc finger protein 365

Synonyms

Su48, DBZ

MMRRC Submission

042548-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4951 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

67721935-67748492 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

C to T at 67725821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000067197 (fasta)

Gene Model

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

AlphaFold

Q8BG89

Predicted Effect

probably null
Transcript: ENSMUST00000064656

SMART Domains

Protein: ENSMUSP00000067197
Gene: ENSMUSG00000037855

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: ENSMUST00000127869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132870

Meta Mutation Damage Score

0.9484

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.1%

Validation Efficiency

98% (94/96)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	G	A	11: 7,088,336 (GRCm39)	E452K	possibly damaging	Het
Adcy10	T	C	1: 165,391,532 (GRCm39)	L1263P	probably damaging	Het
Adgrg1	G	A	8: 95,731,874 (GRCm39)	V179M	probably damaging	Het
Agap1	T	A	1: 89,537,225 (GRCm39)	V77E	probably damaging	Het
Ahnak	A	T	19: 8,995,199 (GRCm39)	K5494N	probably damaging	Het
Arhgap19	A	G	19: 41,762,545 (GRCm39)	M437T	probably benign	Het
C2cd4c	C	A	10: 79,448,839 (GRCm39)	A103S	possibly damaging	Het
Clip1	A	T	5: 123,768,408 (GRCm39)	D776E	probably benign	Het
Cntn3	C	T	6: 102,145,986 (GRCm39)	V952M	possibly damaging	Het
Col6a6	A	G	9: 105,644,397 (GRCm39)		probably null	Het
Crtac1	C	T	19: 42,402,570 (GRCm39)	A13T	probably benign	Het
Ddx50	C	T	10: 62,469,899 (GRCm39)	A363T	probably damaging	Het
Dock9	A	G	14: 121,890,547 (GRCm39)	V241A	probably benign	Het
Dysf	T	C	6: 84,091,102 (GRCm39)		probably null	Het
Enpp3	A	T	10: 24,674,175 (GRCm39)	M375K	probably damaging	Het
Fam13c	G	A	10: 70,387,621 (GRCm39)		probably null	Het
Ftcd	C	T	10: 76,420,517 (GRCm39)	A417V	probably benign	Het
Gak	A	G	5: 108,730,584 (GRCm39)	S941P	probably benign	Het
Ganc	A	G	2: 120,286,528 (GRCm39)	T786A	probably benign	Het
Gfi1	A	C	5: 107,868,009 (GRCm39)	S420A	probably damaging	Het
Ghsr	A	T	3: 27,426,510 (GRCm39)	T189S	possibly damaging	Het
Glb1l	C	T	1: 75,185,019 (GRCm39)	G122D	probably damaging	Het
Gm10065	C	T	13: 21,663,421 (GRCm39)	S64N	unknown	Het
Gm5087	C	A	14: 13,158,749 (GRCm38)		noncoding transcript	Het
Gm973	G	A	1: 59,580,633 (GRCm39)		probably null	Het
Gm9930	A	T	10: 9,410,449 (GRCm39)		noncoding transcript	Het
H6pd	A	T	4: 150,066,044 (GRCm39)	Y781N	probably damaging	Het
Ide	G	A	19: 37,262,631 (GRCm39)	L695F	unknown	Het
Il17re	T	A	6: 113,445,868 (GRCm39)	V393E	probably damaging	Het
Lipo3	A	G	19: 33,759,621 (GRCm39)	V205A	probably benign	Het
Lipo5	C	T	19: 33,446,251 (GRCm39)	E49K	probably damaging	Het
Lonp1	A	T	17: 56,927,335 (GRCm39)	M306K	possibly damaging	Het
Lrig1	A	G	6: 94,640,959 (GRCm39)	L82P	probably damaging	Het
Lrp2	A	T	2: 69,366,332 (GRCm39)	C256S	probably damaging	Het
Map1b	A	T	13: 99,568,935 (GRCm39)	I1262K	unknown	Het
Mctp1	C	T	13: 76,975,894 (GRCm39)	P756S	probably damaging	Het
Mdn1	T	A	4: 32,707,459 (GRCm39)	W1583R	probably damaging	Het
Mis12	T	A	11: 70,916,473 (GRCm39)	Y169N	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Msh5	G	A	17: 35,257,396 (GRCm39)	Q333*	probably null	Het
Necap2	A	T	4: 140,799,834 (GRCm39)		probably null	Het
Nfatc2	T	C	2: 168,412,992 (GRCm39)	D211G	probably damaging	Het
Nlrx1	A	G	9: 44,164,726 (GRCm39)	V906A	possibly damaging	Het
Or2ak7	G	A	11: 58,575,589 (GRCm39)	V297I	probably damaging	Het
Or4a2	T	A	2: 89,248,116 (GRCm39)	I214F	probably benign	Het
Or4l1	A	T	14: 50,166,515 (GRCm39)	L162*	probably null	Het
Or5b125-ps1	A	T	19: 13,056,620 (GRCm39)		noncoding transcript	Het
Or8g24	A	G	9: 38,989,555 (GRCm39)	F162S	probably benign	Het
Pate5	A	G	9: 35,750,732 (GRCm39)	V30A	probably damaging	Het
Pkhd1l1	T	A	15: 44,397,287 (GRCm39)	N2057K	possibly damaging	Het
Ppip5k2	T	C	1: 97,639,474 (GRCm39)	K1078R	possibly damaging	Het
Prdm11	A	G	2: 92,810,954 (GRCm39)	I215T	probably damaging	Het
Ptpn13	C	T	5: 103,735,912 (GRCm39)	P2137L	probably benign	Het
Rif1	T	A	2: 51,974,998 (GRCm39)		probably null	Het
Rnf17	T	C	14: 56,759,848 (GRCm39)	V1551A	probably benign	Het
Ror2	C	T	13: 53,271,183 (GRCm39)	V391I	probably benign	Het
Rps6ka2	A	T	17: 7,560,188 (GRCm39)	D542V	probably damaging	Het
Sema4g	A	G	19: 44,985,010 (GRCm39)		probably null	Het
Serpinb6d	T	G	13: 33,850,366 (GRCm39)	S64R	probably benign	Het
Serpine1	C	T	5: 137,098,205 (GRCm39)	R156K	probably benign	Het
Setdb2	A	G	14: 59,639,752 (GRCm39)	I713T	possibly damaging	Het
Slamf7	A	G	1: 171,466,693 (GRCm39)	F171L	probably benign	Het
Slc15a5	A	G	6: 138,050,064 (GRCm39)	L117S	probably damaging	Het
Slc8a3	T	A	12: 81,361,473 (GRCm39)	T449S	probably benign	Het
Slc8a3	T	A	12: 81,362,760 (GRCm39)	T20S	probably damaging	Het
Smc2	G	A	4: 52,462,926 (GRCm39)	V639M	possibly damaging	Het
Sra1	A	T	18: 36,809,494 (GRCm39)	C223*	probably null	Het
Srgap1	A	T	10: 121,621,457 (GRCm39)	M1012K	probably benign	Het
Stk-ps2	A	T	1: 46,068,602 (GRCm39)		noncoding transcript	Het
Taar6	A	T	10: 23,861,106 (GRCm39)	S147T	probably benign	Het
Taf15	G	A	11: 83,375,637 (GRCm39)	G34D	possibly damaging	Het
Tarbp1	T	C	8: 127,174,184 (GRCm39)	E874G	possibly damaging	Het
Tob2	T	C	15: 81,735,924 (GRCm39)	Y15C	probably damaging	Het
Trim12a	A	G	7: 103,953,565 (GRCm39)	V182A	possibly damaging	Het
Trim67	A	G	8: 125,521,406 (GRCm39)	E256G	probably benign	Het
Trrap	T	A	5: 144,742,530 (GRCm39)	S1382T	possibly damaging	Het
Ttc39d	T	A	17: 80,523,462 (GRCm39)	S40R	probably benign	Het
Ttn	A	T	2: 76,779,406 (GRCm39)	V1158E	probably benign	Het
Vmn1r19	C	T	6: 57,381,927 (GRCm39)	T160I	probably benign	Het
Vmn2r100	T	C	17: 19,752,300 (GRCm39)	I781T	probably benign	Het
Vmn2r85	T	C	10: 130,261,113 (GRCm39)	E408G	probably damaging	Het
Vwde	T	C	6: 13,187,138 (GRCm39)	D783G	probably damaging	Het
Wdr27	A	T	17: 15,096,395 (GRCm39)	D796E	probably damaging	Het
Zfp9	T	G	6: 118,441,408 (GRCm39)	H418P	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
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

Predicted Primers

PCR Primer
(F):5'- TAAAAGTGGCACCGGCATGC -3'
(R):5'- GAATATGCCCAGTGTCTTTCTCTG -3'

Sequencing Primer
(F):5'- CGGCATGCAGGTAAATGCTCAC -3'
(R):5'- AGTGTCTTTCTCTGGCTGC -3'

Posted On

2016-11-14