Mutagenetix > Incidental Mutation

Incidental Mutation 'R4933:Zfp296'

380716

Institutional Source

Beutler Lab

Gene Symbol

Zfp296

Ensembl Gene

ENSMUSG00000011267

Gene Name

zinc finger protein 296

Synonyms

2210018A16Rik

MMRRC Submission

042533-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.443) question?

Stock #

R4933 (G1)

Quality Score

204

Status

Validated

Chromosome

Chromosomal Location

19577287-19580656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 19579712 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 164 (C164F)

Ref Sequence

ENSEMBL: ENSMUSP00000104093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086041] [ENSMUST00000108453] [ENSMUST00000207524] [ENSMUST00000207663] [ENSMUST00000207907] [ENSMUST00000208068] [ENSMUST00000208826]

AlphaFold

E9Q6W4

Predicted Effect

probably benign
Transcript: ENSMUST00000086041

SMART Domains

Protein: ENSMUSP00000083205
Gene: ENSMUSG00000061028

Domain	Start	End	E-Value	Type
low complexity region	19	35	N/A	INTRINSIC
DRY_EERY	39	171	1.28e-64	SMART
low complexity region	172	212	N/A	INTRINSIC
low complexity region	241	260	N/A	INTRINSIC
low complexity region	263	283	N/A	INTRINSIC
low complexity region	302	324	N/A	INTRINSIC
low complexity region	339	368	N/A	INTRINSIC
low complexity region	372	446	N/A	INTRINSIC
low complexity region	453	476	N/A	INTRINSIC
low complexity region	480	532	N/A	INTRINSIC
coiled coil region	574	630	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108453
AA Change: C164F

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104093
Gene: ENSMUSG00000011267
AA Change: C164F

Domain	Start	End	E-Value	Type
ZnF_C2H2	138	161	5.07e0	SMART
ZnF_C2H2	212	234	2.05e-2	SMART
ZnF_C2H2	240	262	1.1e-2	SMART
low complexity region	281	295	N/A	INTRINSIC
low complexity region	317	329	N/A	INTRINSIC
ZnF_C2H2	360	382	1.95e-3	SMART
ZnF_C2H2	388	410	3.39e-3	SMART
ZnF_C2H2	418	441	1.14e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207447

Predicted Effect

probably benign
Transcript: ENSMUST00000207524

Predicted Effect

probably benign
Transcript: ENSMUST00000207663

Predicted Effect

probably benign
Transcript: ENSMUST00000207907

Predicted Effect

probably benign
Transcript: ENSMUST00000208068

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208314

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208716

Predicted Effect

probably benign
Transcript: ENSMUST00000208826

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

97% (73/75)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,626,802 (GRCm38)	E643G	probably damaging	Het
4430402I18Rik	G	T	19: 28,941,775 (GRCm38)	H195N	possibly damaging	Het
Abca2	T	C	2: 25,444,827 (GRCm38)	V1937A	probably benign	Het
Acot10	A	T	15: 20,666,330 (GRCm38)	N108K	possibly damaging	Het
Agtpbp1	A	T	13: 59,500,572 (GRCm38)	M478K	probably benign	Het
Akirin1	G	A	4: 123,736,858 (GRCm38)	S191F	probably damaging	Het
Aurkb	T	C	11: 69,048,144 (GRCm38)		probably benign	Het
Cabyr	T	C	18: 12,744,492 (GRCm38)		probably benign	Het
Ccp110	A	G	7: 118,725,319 (GRCm38)	E688G	probably damaging	Het
Champ1	T	A	8: 13,879,137 (GRCm38)	S432T	probably benign	Het
Crybg1	T	A	10: 43,999,213 (GRCm38)	N633I	probably damaging	Het
Dagla	A	T	19: 10,269,715 (GRCm38)		probably null	Het
Dkkl1	A	T	7: 45,211,525 (GRCm38)	L10Q	probably null	Het
Dnah8	G	A	17: 30,748,568 (GRCm38)	D2585N	probably benign	Het
E430018J23Rik	A	G	7: 127,393,349 (GRCm38)	Y30H	probably damaging	Het
Fndc7	G	T	3: 108,876,670 (GRCm38)	Q208K	probably benign	Het
Gins4	A	T	8: 23,234,780 (GRCm38)	C53S	probably damaging	Het
Gja8	T	A	3: 96,919,035 (GRCm38)		probably benign	Het
Golph3l	T	A	3: 95,617,423 (GRCm38)	N328K	probably benign	Het
Haus6	A	C	4: 86,585,287 (GRCm38)		probably benign	Het
Hdac5	A	G	11: 102,200,563 (GRCm38)		probably benign	Het
Ide	A	G	19: 37,277,756 (GRCm38)	Y883H	unknown	Het
Igf2r	A	G	17: 12,691,877 (GRCm38)		probably null	Het
Kdm3b	T	C	18: 34,810,393 (GRCm38)	Y723H	probably damaging	Het
Kif21b	G	A	1: 136,151,325 (GRCm38)		probably null	Het
Lancl1	A	T	1: 67,021,034 (GRCm38)	N77K	probably benign	Het
Lyst	G	A	13: 13,759,378 (GRCm38)	V3554I	probably benign	Het
Lyst	T	A	13: 13,637,764 (GRCm38)	N920K	probably damaging	Het
Map1a	G	A	2: 121,305,905 (GRCm38)	A2163T	probably damaging	Het
Mapk7	G	T	11: 61,493,908 (GRCm38)		probably benign	Het
Myo10	C	A	15: 25,781,118 (GRCm38)	Q154K	probably damaging	Het
Olfr13	C	T	6: 43,174,321 (GRCm38)	L112F	probably benign	Het
Olfr132	A	G	17: 38,130,550 (GRCm38)	I214T	probably damaging	Het
Pcdhgb2	G	A	18: 37,692,214 (GRCm38)	V753M	probably benign	Het
Pnn	T	A	12: 59,070,227 (GRCm38)	L195Q	probably damaging	Het
Pot1a	A	G	6: 25,771,541 (GRCm38)	V227A	possibly damaging	Het
Ppp1r21	T	A	17: 88,547,621 (GRCm38)	D109E	probably benign	Het
Prr15l	G	A	11: 96,934,762 (GRCm38)	G73S	probably damaging	Het
Rnf148	A	G	6: 23,654,340 (GRCm38)	F219S	probably benign	Het
Rnpep	C	A	1: 135,267,026 (GRCm38)		probably benign	Het
Ryr1	T	C	7: 29,104,298 (GRCm38)	T643A	probably damaging	Het
Ryr2	A	T	13: 11,945,945 (GRCm38)	C36S	probably damaging	Het
Shc3	G	T	13: 51,442,769 (GRCm38)	T406N	probably benign	Het
Slit3	G	T	11: 35,688,593 (GRCm38)	G1199V	probably damaging	Het
Sptbn5	G	A	2: 120,050,120 (GRCm38)		noncoding transcript	Het
St8sia6	T	C	2: 13,665,442 (GRCm38)	N236D	probably damaging	Het
Stpg1	A	T	4: 135,506,416 (GRCm38)	Q3L	probably benign	Het
Sult3a1	T	A	10: 33,866,554 (GRCm38)	I59N	probably damaging	Het
Svs1	T	C	6: 48,987,492 (GRCm38)	S145P	probably damaging	Het
Vmn1r208	T	G	13: 22,772,788 (GRCm38)	I180L	probably benign	Het
Vmn2r51	A	T	7: 10,098,320 (GRCm38)	N446K	probably damaging	Het
Vmn2r63	A	T	7: 42,903,978 (GRCm38)	I618N	probably damaging	Het
Wrn	T	C	8: 33,322,343 (GRCm38)	N182S	probably benign	Het
Zmynd8	A	G	2: 165,834,951 (GRCm38)	V249A	possibly damaging	Het
Zswim2	A	G	2: 83,925,227 (GRCm38)	L110P	probably damaging	Het

Other mutations in Zfp296

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00590:Zfp296	APN	7	19,577,835 (GRCm38)	missense	possibly damaging	0.85
IGL01098:Zfp296	APN	7	19,577,920 (GRCm38)	missense	possibly damaging	0.72
R0359:Zfp296	UTSW	7	19,579,939 (GRCm38)	missense	possibly damaging	0.68
R0510:Zfp296	UTSW	7	19,577,906 (GRCm38)	missense	probably benign	0.01
R0707:Zfp296	UTSW	7	19,579,736 (GRCm38)	missense	probably benign	0.00
R4931:Zfp296	UTSW	7	19,579,712 (GRCm38)	missense	possibly damaging	0.73
R4932:Zfp296	UTSW	7	19,579,712 (GRCm38)	missense	possibly damaging	0.73
R5190:Zfp296	UTSW	7	19,577,407 (GRCm38)	missense	probably benign	0.33
R5974:Zfp296	UTSW	7	19,577,937 (GRCm38)	missense	probably benign	0.00
R9694:Zfp296	UTSW	7	19,580,302 (GRCm38)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- GTTTACACTTCAGGAGGTTCCC -3'
(R):5'- AACGCATGTGGACCTTGAG -3'

Sequencing Primer
(F):5'- AGGGCAGCATCTGTCATG -3'
(R):5'- GCTGAAAGAGCTGAGGGTC -3'

Posted On

2016-04-15