Mutagenetix > Incidental Mutation

Incidental Mutation 'R7329:Ovol3'

569114

Institutional Source

Beutler Lab

Gene Symbol

Ovol3

Ensembl Gene

ENSMUSG00000100512

Gene Name

ovo like zinc finger 3

Synonyms

movo3, LOC381867

MMRRC Submission

045422-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R7329 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29932864-29935150 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29934677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 43 (R43S)

Ref Sequence

ENSEMBL: ENSMUSP00000140811 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006254] [ENSMUST00000019882] [ENSMUST00000108190] [ENSMUST00000108192] [ENSMUST00000108193] [ENSMUST00000134570] [ENSMUST00000145027] [ENSMUST00000189482] [ENSMUST00000149654]

AlphaFold

D3YYM0

Predicted Effect

probably benign
Transcript: ENSMUST00000006254

SMART Domains

Protein: ENSMUSP00000006254
Gene: ENSMUSG00000006095

Domain	Start	End	E-Value	Type
Pfam:Ubiquitin_2	10	94	9.6e-30	PFAM
low complexity region	135	152	N/A	INTRINSIC
CAP_GLY	161	230	4.76e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000019882

SMART Domains

Protein: ENSMUSP00000019882
Gene: ENSMUSG00000019738

Domain	Start	End	E-Value	Type
RPOL9	15	68	1.22e-24	SMART
ZnF_C2C2	84	125	2.18e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108190

SMART Domains

Protein: ENSMUSP00000103825
Gene: ENSMUSG00000037020

Domain	Start	End	E-Value	Type
low complexity region	27	53	N/A	INTRINSIC
WD40	101	142	4.24e-3	SMART
WD40	145	186	1.03e-1	SMART
WD40	189	226	7.4e0	SMART
WD40	284	322	3.55e1	SMART
WD40	353	388	1.85e0	SMART
WD40	395	442	2.98e-1	SMART
WD40	482	521	2.77e-1	SMART
WD40	524	566	2.3e0	SMART
WD40	570	610	4.18e-2	SMART
WD40	615	657	1.54e0	SMART
WD40	660	702	8.49e-3	SMART
WD40	705	744	3.61e-6	SMART
low complexity region	763	768	N/A	INTRINSIC
low complexity region	797	811	N/A	INTRINSIC
low complexity region	980	987	N/A	INTRINSIC
low complexity region	1215	1226	N/A	INTRINSIC
low complexity region	1302	1313	N/A	INTRINSIC
low complexity region	1477	1497	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108192

SMART Domains

Protein: ENSMUSP00000103827
Gene: ENSMUSG00000019738

Domain	Start	End	E-Value	Type
RPOL9	1	46	5.45e-13	SMART
ZnF_C2C2	62	103	2.18e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108193

SMART Domains

Protein: ENSMUSP00000103828
Gene: ENSMUSG00000019738

Domain	Start	End	E-Value	Type
Pfam:RNA_POL_M_15KD	14	41	1.8e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134570

SMART Domains

Protein: ENSMUSP00000116139
Gene: ENSMUSG00000037020

Domain	Start	End	E-Value	Type
WD40	36	75	2.77e-1	SMART
WD40	78	120	2.3e0	SMART
WD40	124	164	4.18e-2	SMART
WD40	169	211	1.54e0	SMART
WD40	214	256	8.49e-3	SMART
WD40	259	298	3.61e-6	SMART
low complexity region	317	322	N/A	INTRINSIC
low complexity region	351	365	N/A	INTRINSIC
low complexity region	512	519	N/A	INTRINSIC
low complexity region	744	755	N/A	INTRINSIC
low complexity region	831	842	N/A	INTRINSIC
low complexity region	1006	1026	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145027

SMART Domains

Protein: ENSMUSP00000116772
Gene: ENSMUSG00000037020

Domain	Start	End	E-Value	Type
low complexity region	27	53	N/A	INTRINSIC
WD40	101	142	4.24e-3	SMART
WD40	145	186	1.03e-1	SMART
WD40	189	226	7.4e0	SMART
WD40	284	322	3.55e1	SMART
WD40	353	388	1.85e0	SMART
WD40	395	442	2.98e-1	SMART
WD40	482	521	2.77e-1	SMART
WD40	524	566	2.3e0	SMART
WD40	570	610	4.18e-2	SMART
WD40	615	657	1.54e0	SMART
WD40	660	702	8.49e-3	SMART
WD40	705	744	3.61e-6	SMART
low complexity region	763	768	N/A	INTRINSIC
low complexity region	797	811	N/A	INTRINSIC
low complexity region	980	987	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189482
AA Change: R43S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000140811
Gene: ENSMUSG00000100512
AA Change: R43S

Domain	Start	End	E-Value	Type
ZnF_C2H2	69	91	3.2e-4	SMART
ZnF_C2H2	97	119	1.4e-6	SMART
ZnF_C2H2	125	148	3.2e-5	SMART
ZnF_C2H2	164	186	5.3e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149654

SMART Domains

Protein: ENSMUSP00000116741
Gene: ENSMUSG00000019738

Domain	Start	End	E-Value	Type
RPOL9	1	46	5.45e-13	SMART
Blast:ZnF_C2C2	62	83	2e-8	BLAST

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (78/78)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actb	T	C	5: 142,890,146 (GRCm39)	N252S	probably benign	Het
Adgrb1	C	A	15: 74,411,094 (GRCm39)	T330K	probably damaging	Het
Ahnak	A	G	19: 8,979,156 (GRCm39)	T147A	probably damaging	Het
Ankfy1	T	C	11: 72,603,034 (GRCm39)	V21A	probably damaging	Het
Arrdc4	T	A	7: 68,390,775 (GRCm39)	N322Y	probably damaging	Het
Bfsp2	C	A	9: 103,327,121 (GRCm39)	E205D	probably benign	Het
C2cd4b	T	A	9: 67,667,419 (GRCm39)	S138R	possibly damaging	Het
Camkk1	C	G	11: 72,917,873 (GRCm39)	N147K	probably damaging	Het
Ckap2l	T	A	2: 129,127,284 (GRCm39)	Q298L	possibly damaging	Het
Clstn2	G	T	9: 97,343,422 (GRCm39)	A675D	probably benign	Het
Cntnap2	G	A	6: 47,248,205 (GRCm39)	V1204M	possibly damaging	Het
Col4a1	C	T	8: 11,276,494 (GRCm39)		probably null	Het
Ctrc	T	C	4: 141,571,022 (GRCm39)	T73A	probably benign	Het
Cubn	A	G	2: 13,473,582 (GRCm39)	F454L	probably damaging	Het
Cuedc1	A	T	11: 88,060,692 (GRCm39)	S12C	unknown	Het
Cyb561a3	G	T	19: 10,565,268 (GRCm39)	G211C	probably damaging	Het
D5Ertd579e	A	T	5: 36,773,739 (GRCm39)	S219T	probably benign	Het
Dennd4c	T	A	4: 86,759,318 (GRCm39)	Y1783N	probably damaging	Het
Dennd4c	C	T	4: 86,698,111 (GRCm39)	P200S	possibly damaging	Het
Dnah6	G	A	6: 73,121,705 (GRCm39)	Q1426*	probably null	Het
Dync2h1	T	G	9: 7,011,247 (GRCm39)	T3649P	probably benign	Het
E2f8	T	C	7: 48,521,858 (GRCm39)	S415G	probably damaging	Het
Fbxo22	A	G	9: 55,122,261 (GRCm39)	I147V	probably benign	Het
Gclc	A	G	9: 77,683,473 (GRCm39)	Y110C	probably damaging	Het
Gstm5	A	G	3: 107,803,647 (GRCm39)	T27A	possibly damaging	Het
Heatr4	A	G	12: 84,024,856 (GRCm39)	S322P	probably benign	Het
Htt	T	A	5: 34,987,099 (GRCm39)	I1106N	probably benign	Het
Hunk	T	C	16: 90,183,570 (GRCm39)	V76A	probably benign	Het
Igkv12-98	C	T	6: 68,548,087 (GRCm39)	T72I	possibly damaging	Het
Igkv9-123	A	T	6: 67,931,629 (GRCm39)	W16R	possibly damaging	Het
Ipo7	T	C	7: 109,648,224 (GRCm39)	L674S	possibly damaging	Het
Kcnh6	T	C	11: 105,908,203 (GRCm39)	F273S	probably benign	Het
Lamb3	C	A	1: 193,002,848 (GRCm39)	Q98K	possibly damaging	Het
Lingo4	A	T	3: 94,310,162 (GRCm39)	T367S	probably benign	Het
Lypd6b	A	T	2: 49,832,512 (GRCm39)	I26F	probably benign	Het
Maneal	T	C	4: 124,750,512 (GRCm39)	T415A	probably benign	Het
Mapk1ip1l	A	G	14: 47,547,920 (GRCm39)	T23A	unknown	Het
Mrps17	T	A	5: 129,793,705 (GRCm39)		probably benign	Het
Mup13	T	G	4: 61,183,688 (GRCm39)	D45A	probably damaging	Het
Mycbpap	T	A	11: 94,400,073 (GRCm39)	D408V	probably damaging	Het
Myh10	A	G	11: 68,701,017 (GRCm39)	H1742R	probably benign	Het
Mylk4	A	G	13: 32,900,766 (GRCm39)	Y255H	probably damaging	Het
Nbeal1	A	G	1: 60,256,355 (GRCm39)	Q200R	probably benign	Het
Nkain2	TTTACTCGTT	TTT	10: 32,765,892 (GRCm39)		probably null	Het
Olfm4	T	C	14: 80,249,369 (GRCm39)	V162A	possibly damaging	Het
Or1j15	A	G	2: 36,458,708 (GRCm39)	T33A	probably benign	Het
Or51a8	T	C	7: 102,550,039 (GRCm39)	L155P	probably damaging	Het
Or5w8	T	C	2: 87,687,585 (GRCm39)	V22A	probably benign	Het
Or8c11	C	A	9: 38,289,456 (GRCm39)	T87K	probably benign	Het
Pcbp1	A	G	6: 86,502,098 (GRCm39)	V267A	probably benign	Het
Phf20	T	A	2: 156,146,552 (GRCm39)	V903E	probably damaging	Het
Pi4k2b	T	G	5: 52,914,211 (GRCm39)	S316A	probably benign	Het
Pira1	G	A	7: 3,742,875 (GRCm39)		probably benign	Het
Pkhd1	A	T	1: 20,617,743 (GRCm39)	H947Q	probably damaging	Het
Ppip5k2	A	C	1: 97,678,478 (GRCm39)		probably null	Het
Prkca	T	A	11: 107,905,103 (GRCm39)	T212S	possibly damaging	Het
Psg16	A	T	7: 16,824,611 (GRCm39)	I41F	possibly damaging	Het
Rae1	T	A	2: 172,851,238 (GRCm39)	F204I	probably benign	Het
Rasef	T	A	4: 73,662,374 (GRCm39)	N192I	probably damaging	Het
Rfc1	T	A	5: 65,420,478 (GRCm39)	R1122S	unknown	Het
Rfx2	A	T	17: 57,110,681 (GRCm39)	S102T	probably benign	Het
Sez6l	A	G	5: 112,588,773 (GRCm39)	Y647H	probably damaging	Het
Siglecf	A	G	7: 43,001,395 (GRCm39)	Y121C	probably damaging	Het
Slc27a5	T	C	7: 12,725,089 (GRCm39)	T453A	possibly damaging	Het
Slc44a2	G	A	9: 21,254,048 (GRCm39)	R171Q	probably damaging	Het
Slc4a9	A	C	18: 36,673,874 (GRCm39)	E889A	possibly damaging	Het
Snx31	C	A	15: 36,555,621 (GRCm39)	R13L	probably benign	Het
Spag6l	A	T	16: 16,584,883 (GRCm39)	Y422N	probably benign	Het
Spmip5	T	C	19: 58,777,654 (GRCm39)	E52G	probably damaging	Het
Sulf2	T	C	2: 165,959,008 (GRCm39)	T67A	probably damaging	Het
Syne2	G	A	12: 76,013,758 (GRCm39)	R2983Q	probably benign	Het
Tmtc3	A	G	10: 100,283,281 (GRCm39)	I758T	probably benign	Het
Top2a	T	A	11: 98,895,072 (GRCm39)	I843L	possibly damaging	Het
Tph1	T	C	7: 46,306,285 (GRCm39)		probably null	Het
Trdmt1	A	G	2: 13,520,933 (GRCm39)	L323P	probably damaging	Het
Ush2a	A	T	1: 188,285,395 (GRCm39)	E1977V	probably damaging	Het
Utp4	A	G	8: 107,640,095 (GRCm39)	E468G	probably benign	Het
Uts2r	A	G	11: 121,051,558 (GRCm39)	T141A	possibly damaging	Het
Vmn1r230	A	G	17: 21,066,952 (GRCm39)	Y47C	probably damaging	Het

Other mutations in Ovol3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4425:Ovol3	UTSW	7	29,934,789 (GRCm39)	critical splice donor site	probably null
R5235:Ovol3	UTSW	7	29,932,899 (GRCm39)	missense	possibly damaging	0.95
R5331:Ovol3	UTSW	7	29,932,904 (GRCm39)	missense	possibly damaging	0.57
R6050:Ovol3	UTSW	7	29,933,819 (GRCm39)	missense	probably benign
R6454:Ovol3	UTSW	7	29,934,800 (GRCm39)	missense	probably damaging	1.00
R7438:Ovol3	UTSW	7	29,934,646 (GRCm39)	critical splice donor site	probably null
R7566:Ovol3	UTSW	7	29,933,791 (GRCm39)	missense	probably damaging	1.00
R8087:Ovol3	UTSW	7	29,933,797 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGAGACTGGGTTGAGCTG -3'
(R):5'- ATGCCCAGGGTCTTTCTTG -3'

Sequencing Primer
(F):5'- AGCTGGGTCCTGGGAAG -3'
(R):5'- CTTGTGAGGAGTCGGCGTCC -3'

Posted On

2019-09-13