Mutagenetix > Incidental Mutation

Incidental Mutation 'R6454:Ovol3'

519475

Institutional Source

Beutler Lab

Gene Symbol

Ovol3

Ensembl Gene

ENSMUSG00000100512

Gene Name

ovo like zinc finger 3

Synonyms

movo3, LOC381867

MMRRC Submission

044590-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R6454 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29932864-29935150 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29934800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 29 (Y29H)

Ref Sequence

ENSEMBL: ENSMUSP00000140811 (fasta)

Gene Model

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

noncoding transcript
Transcript: ENSMUST00000138118

Predicted Effect

probably damaging
Transcript: ENSMUST00000189482
AA Change: Y29H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140811
Gene: ENSMUSG00000100512
AA Change: Y29H

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: 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

noncoding transcript
Transcript: ENSMUST00000138886

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152543

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145559

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150841

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.1%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	G	T	8: 44,079,845 (GRCm39)	N126K	probably damaging	Het
Arid2	C	T	15: 96,270,294 (GRCm39)	T1469I	probably benign	Het
Atp12a	A	G	14: 56,608,290 (GRCm39)	T93A	probably benign	Het
Atp8a2	A	T	14: 60,245,948 (GRCm39)		probably null	Het
Casz1	A	T	4: 149,035,952 (GRCm39)	I1405F	probably damaging	Het
Chrnb3	T	C	8: 27,883,403 (GRCm39)	S100P	probably damaging	Het
Creld2	T	A	15: 88,707,274 (GRCm39)	C197*	probably null	Het
Csmd1	A	T	8: 15,971,150 (GRCm39)	F3055Y	probably damaging	Het
Dnah11	T	A	12: 117,880,590 (GRCm39)	E3843D	probably benign	Het
Dnah14	T	C	1: 181,611,270 (GRCm39)	S3799P	probably damaging	Het
Dpp9	A	T	17: 56,513,808 (GRCm39)	L102Q	probably damaging	Het
Eipr1	T	G	12: 28,914,761 (GRCm39)	I305S	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Faf1	G	T	4: 109,699,531 (GRCm39)	A359S	probably benign	Het
Fam13b	A	G	18: 34,590,715 (GRCm39)		probably null	Het
Gm14496	A	T	2: 181,638,015 (GRCm39)	N363I	probably damaging	Het
Grm8	T	G	6: 27,363,775 (GRCm39)	H580P	possibly damaging	Het
Itih5	T	C	2: 10,245,479 (GRCm39)	F523L	probably benign	Het
Klhl1	A	T	14: 96,517,527 (GRCm39)	M383K	possibly damaging	Het
Lgi4	A	T	7: 30,759,557 (GRCm39)	T38S	probably benign	Het
Myh13	T	A	11: 67,241,191 (GRCm39)	M856K	probably benign	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Nlrp9c	G	A	7: 26,085,199 (GRCm39)	R127C	possibly damaging	Het
Notch2	T	C	3: 98,044,722 (GRCm39)	I1548T	possibly damaging	Het
Nphs2	T	A	1: 156,146,337 (GRCm39)	H179Q	probably damaging	Het
Nup153	T	C	13: 46,863,136 (GRCm39)		probably null	Het
Nup50l	T	G	6: 96,142,609 (GRCm39)	H145P	possibly damaging	Het
Odf2l	C	A	3: 144,859,181 (GRCm39)	Q517K	possibly damaging	Het
Omd	A	T	13: 49,743,345 (GRCm39)	I132F	probably damaging	Het
Or10d1b	A	G	9: 39,613,130 (GRCm39)	*312Q	probably null	Het
Or4a81	T	C	2: 89,619,522 (GRCm39)	Y58C	probably damaging	Het
Or5b12	T	A	19: 12,897,395 (GRCm39)	N93Y	probably benign	Het
Or9g19	A	G	2: 85,600,717 (GRCm39)	K191E	probably benign	Het
Otog	A	G	7: 45,955,241 (GRCm39)	N544D	probably damaging	Het
Papolb	T	C	5: 142,515,353 (GRCm39)	K97E	possibly damaging	Het
Pcdhb19	G	T	18: 37,632,322 (GRCm39)	V706L	probably benign	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Plekhm1	G	A	11: 103,268,208 (GRCm39)	R588C	probably damaging	Het
Pnpla6	G	T	8: 3,587,986 (GRCm39)	V1062L	probably damaging	Het
Ppp1r9a	T	A	6: 4,905,827 (GRCm39)	F127L	probably damaging	Het
Rigi	T	A	4: 40,220,456 (GRCm39)	I476F	probably damaging	Het
Rnf5	A	C	17: 34,821,283 (GRCm39)	C47W	probably damaging	Het
Sbno1	A	T	5: 124,538,910 (GRCm39)	M517K	probably damaging	Het
Slc44a5	C	T	3: 153,948,796 (GRCm39)	T188M	probably benign	Het
Smco1	A	G	16: 32,092,041 (GRCm39)	T40A	possibly damaging	Het
Speer4f2	A	T	5: 17,579,431 (GRCm39)	I77F	probably damaging	Het
Spem2	A	G	11: 69,708,254 (GRCm39)	L237P	probably damaging	Het
Spg7	A	G	8: 123,806,162 (GRCm39)	K291E	possibly damaging	Het
Tent5b	A	G	4: 133,207,720 (GRCm39)	D37G	probably damaging	Het
Tiam2	A	T	17: 3,488,938 (GRCm39)	T749S	probably benign	Het
Tln1	T	C	4: 43,533,866 (GRCm39)	K2291E	probably damaging	Het
Tm6sf1	A	G	7: 81,525,801 (GRCm39)	M294V	probably damaging	Het
Tmem35b	T	C	4: 127,022,811 (GRCm39)	*138R	probably null	Het
Tpst1	A	G	5: 130,130,892 (GRCm39)	K121E	possibly damaging	Het
Tsc22d2	T	A	3: 58,323,261 (GRCm39)	V51D	possibly damaging	Het
Tshr	C	A	12: 91,505,323 (GRCm39)	Q754K	probably benign	Het
Ttc38	T	A	15: 85,723,023 (GRCm39)	M157K	probably damaging	Het
Ube2g2	T	G	10: 77,470,580 (GRCm39)		probably benign	Het
Ugt2b37	T	G	5: 87,388,836 (GRCm39)	D459A	probably damaging	Het
Usp35	A	T	7: 96,960,851 (GRCm39)	Y858*	probably null	Het
Usp35	A	T	7: 96,960,767 (GRCm39)	N886K	probably damaging	Het
Wdr33	T	C	18: 31,963,028 (GRCm39)	V125A	possibly damaging	Het
Xpnpep1	G	A	19: 52,986,310 (GRCm39)	T506I	possibly 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
R7329:Ovol3	UTSW	7	29,934,677 (GRCm39)	missense	probably benign	0.01
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'- TCCTGTGCACGAGTGGAAAG -3'
(R):5'- AGAATGAGGCTTCCAGGAGTC -3'

Sequencing Primer
(F):5'- GGAAAGCCATCCCATCTTAGTTG -3'
(R):5'- GGAGTCTCCTGATTTCACCTAG -3'

Posted On

2018-05-24