Mutagenetix > Incidental Mutation

Incidental Mutation 'R7128:Olfml3'

552444

Institutional Source

Beutler Lab

Gene Symbol

Olfml3

Ensembl Gene

ENSMUSG00000027848

Gene Name

olfactomedin-like 3

Synonyms

HNOEL-iso, mONT3, ONT3, 2810002E22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7128 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103642710-103645317 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103644484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 62 (M62V)

Ref Sequence

ENSEMBL: ENSMUSP00000029440 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029440] [ENSMUST00000106852] [ENSMUST00000118317] [ENSMUST00000169286]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029440
AA Change: M62V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029440
Gene: ENSMUSG00000027848
AA Change: M62V

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	31	42	N/A	INTRINSIC
Blast:OLF	65	133	8e-34	BLAST
OLF	137	401	9.22e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106852

Predicted Effect

probably benign
Transcript: ENSMUST00000118317

SMART Domains

Protein: ENSMUSP00000113998
Gene: ENSMUSG00000008730

Domain	Start	End	E-Value	Type
low complexity region	3	21	N/A	INTRINSIC
low complexity region	87	99	N/A	INTRINSIC
low complexity region	151	170	N/A	INTRINSIC
S_TKc	190	518	3.39e-76	SMART
low complexity region	586	603	N/A	INTRINSIC
low complexity region	679	695	N/A	INTRINSIC
low complexity region	941	959	N/A	INTRINSIC
low complexity region	1047	1063	N/A	INTRINSIC
low complexity region	1095	1111	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169286

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the olfactomedin-like gene family which also includes genes encoding noelin, tiarin, myocilin, amassin, optimedin, photomedin, and latrophilin. The encoded protein is a secreted extracellular matrix glycoprotein with a C-terminal olfactomedin domain that facilitates protein-protein interactions, cell adhesion, and intercellular interactions. It serves as both a scaffold protein that recruits bone morphogenetic protein 1 to its substrate chordin, and as a vascular tissue remodeler with pro-angiogenic properties. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a disruption in this gene appear normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,347,985 (GRCm39)	D25G	probably benign	Het
Ak9	T	C	10: 41,300,713 (GRCm39)	V1641A	unknown	Het
Akirin2	T	C	4: 34,562,435 (GRCm39)	I118T	probably benign	Het
Aldh1l1	G	T	6: 90,540,361 (GRCm39)	Q215H	probably benign	Het
Arhgef26	T	C	3: 62,326,971 (GRCm39)	F495L	possibly damaging	Het
Atg4a-ps	T	A	3: 103,553,063 (GRCm39)	R93*	probably null	Het
Brd10	T	C	19: 29,693,881 (GRCm39)	T1871A	possibly damaging	Het
Catsper3	A	G	13: 55,946,662 (GRCm39)	I120V	probably benign	Het
Cavin2	A	G	1: 51,328,579 (GRCm39)	Q12R	possibly damaging	Het
Cenpf	A	T	1: 189,417,188 (GRCm39)	F39Y	probably damaging	Het
Chfr	T	C	5: 110,291,502 (GRCm39)	Y107H	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Defb4	T	A	8: 19,251,220 (GRCm39)	I29K	possibly damaging	Het
Dnah7c	A	G	1: 46,566,645 (GRCm39)	T619A	probably benign	Het
Duxf1	T	C	10: 58,059,479 (GRCm39)	Q425R	unknown	Het
Emc3	A	G	6: 113,494,881 (GRCm39)	L179P	probably damaging	Het
Eno3	G	C	11: 70,549,430 (GRCm39)	V84L	possibly damaging	Het
Fam110a	C	T	2: 151,812,642 (GRCm39)	V43M	probably damaging	Het
Fbxo30	T	A	10: 11,165,860 (GRCm39)	L194*	probably null	Het
Galnt14	T	C	17: 73,852,096 (GRCm39)	T108A	probably benign	Het
Glipr2	T	C	4: 43,968,601 (GRCm39)	I51T	probably benign	Het
Gm1527	C	T	3: 28,969,460 (GRCm39)	S270F	possibly damaging	Het
Gm3336	A	G	8: 71,171,203 (GRCm39)	M1V	probably null	Het
Gm4744	T	C	6: 40,927,310 (GRCm39)	D15G		Het
Gm4924	G	A	10: 82,214,533 (GRCm39)	C777Y	unknown	Het
Gm5901	G	A	7: 105,027,408 (GRCm39)	G306S	probably damaging	Het
Gon4l	T	A	3: 88,802,999 (GRCm39)	N1203K	possibly damaging	Het
Gpr161	A	T	1: 165,138,026 (GRCm39)	Y204F	possibly damaging	Het
Igsf10	T	C	3: 59,236,326 (GRCm39)	E1285G	probably benign	Het
Irx6	T	C	8: 93,403,994 (GRCm39)	L187P	probably damaging	Het
Itgb1bp1	A	G	12: 21,322,089 (GRCm39)	Y117H	probably benign	Het
Itln1	C	A	1: 171,358,143 (GRCm39)	D202Y	possibly damaging	Het
Kctd9	T	C	14: 67,975,972 (GRCm39)	S242P	probably benign	Het
Lrrk2	A	G	15: 91,686,088 (GRCm39)	H2143R	probably benign	Het
Lynx1	G	A	15: 74,623,398 (GRCm39)	R50*	probably null	Het
Lypd11	C	T	7: 24,425,424 (GRCm39)		probably null	Het
Map10	A	G	8: 126,398,592 (GRCm39)	I662V	probably benign	Het
Mlxipl	T	C	5: 135,162,705 (GRCm39)	L691P	probably damaging	Het
Muc16	A	G	9: 18,554,300 (GRCm39)	S3998P	unknown	Het
Nalcn	A	T	14: 123,831,914 (GRCm39)	V120E	probably damaging	Het
Nfat5	T	C	8: 108,085,323 (GRCm39)	S539P	probably benign	Het
Orm3	T	C	4: 63,276,062 (GRCm39)	V158A	probably benign	Het
Pakap	T	C	4: 57,855,816 (GRCm39)	S382P	probably benign	Het
Pced1b	A	T	15: 97,282,479 (GRCm39)	K173*	probably null	Het
Pdzd7	T	C	19: 45,016,388 (GRCm39)	D911G	probably damaging	Het
Pkn3	A	G	2: 29,973,327 (GRCm39)	D383G	probably damaging	Het
Pm20d1	A	G	1: 131,725,292 (GRCm39)	E46G	probably benign	Het
Pyroxd2	A	T	19: 42,719,842 (GRCm39)	S455T	probably benign	Het
Rmnd5b	T	A	11: 51,515,364 (GRCm39)	I301F	possibly damaging	Het
Rnf225	A	G	7: 12,661,911 (GRCm39)	N30S	probably benign	Het
Shisal2a	G	T	4: 108,225,100 (GRCm39)	T154K	probably benign	Het
Slfn3	T	A	11: 83,105,721 (GRCm39)	C573S	probably benign	Het
Smc6	A	G	12: 11,351,632 (GRCm39)	E887G	probably damaging	Het
Sp140	A	T	1: 85,547,846 (GRCm39)	D191V	possibly damaging	Het
Srf	C	T	17: 46,866,372 (GRCm39)	S128N	possibly damaging	Het
Sult6b1	T	C	17: 79,202,070 (GRCm39)	D144G	probably damaging	Het
Syne1	G	A	10: 5,193,180 (GRCm39)	A3956V	probably damaging	Het
Syt10	A	T	15: 89,698,314 (GRCm39)	D343E	probably damaging	Het
Tgtp2	G	A	11: 48,950,135 (GRCm39)	R146C	possibly damaging	Het
Tmcc3	A	T	10: 94,266,496 (GRCm39)		probably benign	Het
Tnfrsf1a	A	T	6: 125,338,499 (GRCm39)	T337S	probably benign	Het
Tns1	A	T	1: 74,034,463 (GRCm39)	I144N		Het
Trim11	A	G	11: 58,869,103 (GRCm39)	E13G	probably damaging	Het
Trpm6	A	T	19: 18,789,137 (GRCm39)	H569L	possibly damaging	Het
Ttbk2	T	A	2: 120,576,569 (GRCm39)	I803L	probably benign	Het
Vmn1r21	G	T	6: 57,820,936 (GRCm39)	N169K	probably damaging	Het
Vmn2r60	C	T	7: 41,844,536 (GRCm39)	T633I	probably damaging	Het
Wt1	T	C	2: 104,957,670 (GRCm39)	Y177H	probably benign	Het

Other mutations in Olfml3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Olfml3	APN	3	103,644,298 (GRCm39)	splice site	probably null
IGL02130:Olfml3	APN	3	103,644,283 (GRCm39)	missense	probably benign	0.20
R0133:Olfml3	UTSW	3	103,644,342 (GRCm39)	splice site	probably null
R0427:Olfml3	UTSW	3	103,644,330 (GRCm39)	missense	probably benign	0.27
R2130:Olfml3	UTSW	3	103,643,185 (GRCm39)	missense	probably benign	0.05
R2131:Olfml3	UTSW	3	103,643,185 (GRCm39)	missense	probably benign	0.05
R2133:Olfml3	UTSW	3	103,643,185 (GRCm39)	missense	probably benign	0.05
R4688:Olfml3	UTSW	3	103,639,497 (GRCm39)	utr 3 prime	probably benign
R5211:Olfml3	UTSW	3	103,644,515 (GRCm39)	missense	probably benign
R5227:Olfml3	UTSW	3	103,643,737 (GRCm39)	missense	possibly damaging	0.86
R6223:Olfml3	UTSW	3	103,643,776 (GRCm39)	missense	probably damaging	1.00
R6493:Olfml3	UTSW	3	103,643,523 (GRCm39)	missense	possibly damaging	0.61
R7191:Olfml3	UTSW	3	103,643,176 (GRCm39)	missense	probably damaging	0.99
R7224:Olfml3	UTSW	3	103,643,176 (GRCm39)	missense	probably damaging	0.99
R7298:Olfml3	UTSW	3	103,643,176 (GRCm39)	missense	probably damaging	0.99
R7299:Olfml3	UTSW	3	103,643,176 (GRCm39)	missense	probably damaging	0.99
R7300:Olfml3	UTSW	3	103,643,176 (GRCm39)	missense	probably damaging	0.99
R7355:Olfml3	UTSW	3	103,643,395 (GRCm39)	missense	probably damaging	1.00
R9452:Olfml3	UTSW	3	103,643,575 (GRCm39)	missense	probably benign	0.00
R9568:Olfml3	UTSW	3	103,644,282 (GRCm39)	missense	possibly damaging	0.89
X0058:Olfml3	UTSW	3	103,639,432 (GRCm39)	utr 3 prime	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGAGATCACTTACCCGTCACC -3'
(R):5'- TGACTAGTCTCCTCTGCTGTGG -3'

Sequencing Primer
(F):5'- TGAGATCACTTACCCGTCACCATATC -3'
(R):5'- TGGGAGCATGGCTGAGC -3'

Posted On

2019-05-15