Mutagenetix > Incidental Mutation

Incidental Mutation 'R5649:Olfm3'

441309

Institutional Source

Beutler Lab

Gene Symbol

Olfm3

Ensembl Gene

ENSMUSG00000027965

Gene Name

olfactomedin 3

Synonyms

optimedin, B230206G02Rik

MMRRC Submission

043170-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R5649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114904078-115125722 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115096924 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 76 (R76G)

Ref Sequence

ENSEMBL: ENSMUSP00000121097 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051309] [ENSMUST00000081752] [ENSMUST00000149158]

AlphaFold

P63056

Predicted Effect

probably damaging
Transcript: ENSMUST00000051309
AA Change: R109G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000060985
Gene: ENSMUSG00000027965
AA Change: R109G

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Noelin-1	46	145	3.9e-52	PFAM
Blast:OLF	162	207	3e-8	BLAST
OLF	220	470	4.33e-114	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000081752
AA Change: R89G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000080448
Gene: ENSMUSG00000027965
AA Change: R89G

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Noelin-1	25	125	7.6e-54	PFAM
Blast:OLF	142	187	3e-8	BLAST
OLF	200	450	4.33e-114	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000149158
AA Change: R76G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121097
Gene: ENSMUSG00000027965
AA Change: R76G

Domain	Start	End	E-Value	Type
Pfam:Noelin-1	12	112	2.5e-51	PFAM
Blast:OLF	129	174	1e-8	BLAST
Blast:OLF	187	210	1e-7	BLAST

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	T	C	11: 51,685,972	E33G	probably benign	Het
Abca12	T	C	1: 71,291,342	T1385A	probably damaging	Het
Apc2	T	A	10: 80,314,138	D1646E	probably damaging	Het
Aspm	G	A	1: 139,479,669	R2098H	probably benign	Het
Atl3	C	A	19: 7,532,227	T435N	possibly damaging	Het
Cdh22	G	T	2: 165,116,280	T589K	probably damaging	Het
Cnot3	T	C	7: 3,658,083	L561S	probably benign	Het
Col5a1	A	G	2: 27,951,456	D363G	unknown	Het
Cyp24a1	T	C	2: 170,496,309	D105G	possibly damaging	Het
Dennd4a	C	A	9: 64,851,209		probably null	Het
Dnah8	A	G	17: 30,800,587	K3878R	probably benign	Het
Dock4	T	C	12: 40,844,540	S1900P	probably benign	Het
Fancg	A	G	4: 43,008,736	L167P	probably damaging	Het
Ighd2-8	A	G	12: 113,450,867	S1P	possibly damaging	Het
Kif28	A	G	1: 179,697,771		probably null	Het
Mrpl55	T	A	11: 59,204,571	C20*	probably null	Het
Myo5a	A	G	9: 75,171,719	K920E	possibly damaging	Het
Naa35	G	A	13: 59,622,866		probably benign	Het
Olfr304	T	C	7: 86,386,313	M116V	probably damaging	Het
Olfr705	T	C	7: 106,714,166	R172G	possibly damaging	Het
Pcdha12	A	T	18: 37,022,415	D729V	probably benign	Het
Phf11c	T	C	14: 59,385,532		probably null	Het
Phf20	T	A	2: 156,251,768		probably null	Het
Plbd1	T	A	6: 136,616,989	Y376F	probably benign	Het
Poglut1	A	G	16: 38,531,811	V257A	probably damaging	Het
Reln	A	G	5: 21,901,625	I3249T	probably benign	Het
Rgsl1	G	A	1: 153,825,893	P272S	possibly damaging	Het
Slc15a2	A	T	16: 36,772,110	Y197*	probably null	Het
Slc45a2	C	T	15: 11,012,607	T232I	probably benign	Het
Ssc5d	T	A	7: 4,926,518		probably null	Het
Thbs2	T	C	17: 14,689,953	Y128C	probably damaging	Het
Them4	A	T	3: 94,331,544	L219F	possibly damaging	Het
Tmem30b	G	T	12: 73,546,166	N58K	probably benign	Het
Ttc29	G	A	8: 78,246,313	E131K	possibly damaging	Het
Vmn1r29	C	G	6: 58,307,691	S132C	probably benign	Het
Vmn1r53	G	A	6: 90,223,760	A194V	probably benign	Het
Wdr86	A	T	5: 24,718,087	H202Q	probably benign	Het
Xirp2	A	G	2: 67,516,895	D3160G	probably benign	Het
Xkr5	T	C	8: 18,933,966	D520G	probably benign	Het
Zfp607b	T	G	7: 27,703,981	C621G	probably damaging	Het

Other mutations in Olfm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01656:Olfm3	APN	3	115122633	missense	probably damaging	1.00
IGL01686:Olfm3	APN	3	115122848	missense	probably benign	0.00
IGL01732:Olfm3	APN	3	115097000	missense	possibly damaging	0.82
IGL02539:Olfm3	APN	3	115101930	missense	possibly damaging	0.93
IGL02580:Olfm3	APN	3	115122508	missense	probably damaging	1.00
IGL02999:Olfm3	APN	3	115122748	missense	probably damaging	1.00
IGL03142:Olfm3	APN	3	115097030	missense	probably damaging	0.97
IGL03239:Olfm3	APN	3	115122594	missense	probably damaging	0.99
R0361:Olfm3	UTSW	3	115120973	missense	probably damaging	1.00
R0373:Olfm3	UTSW	3	115122805	missense	probably damaging	0.99
R0505:Olfm3	UTSW	3	115122681	missense	possibly damaging	0.46
R0689:Olfm3	UTSW	3	115122545	missense	probably benign	0.28
R0973:Olfm3	UTSW	3	115101986	missense	probably benign	0.00
R0973:Olfm3	UTSW	3	115101986	missense	probably benign	0.00
R0974:Olfm3	UTSW	3	115101986	missense	probably benign	0.00
R1253:Olfm3	UTSW	3	115122769	missense	probably damaging	0.98
R1293:Olfm3	UTSW	3	115101930	missense	possibly damaging	0.93
R1952:Olfm3	UTSW	3	115101940	missense	probably null	1.00
R2255:Olfm3	UTSW	3	115122193	splice site	probably null
R2334:Olfm3	UTSW	3	115101959	nonsense	probably null
R2510:Olfm3	UTSW	3	115122310	missense	probably damaging	1.00
R4222:Olfm3	UTSW	3	115090171	nonsense	probably null
R4716:Olfm3	UTSW	3	115081106	missense	probably benign	0.00
R4912:Olfm3	UTSW	3	115101940	missense	probably damaging	1.00
R5084:Olfm3	UTSW	3	114904553	critical splice donor site	probably null
R5681:Olfm3	UTSW	3	115122275	missense	probably benign	0.28
R5861:Olfm3	UTSW	3	115122403	missense	probably damaging	1.00
R5924:Olfm3	UTSW	3	115122538	missense	probably benign	0.44
R5929:Olfm3	UTSW	3	115101880	missense	probably damaging	0.97
R5958:Olfm3	UTSW	3	115122306	missense	probably damaging	0.99
R6166:Olfm3	UTSW	3	115122425	missense	probably damaging	1.00
R6299:Olfm3	UTSW	3	115120983	missense	probably damaging	1.00
R6804:Olfm3	UTSW	3	115122679	missense	probably benign	0.10
R7032:Olfm3	UTSW	3	115090156	missense	probably damaging	1.00
R7565:Olfm3	UTSW	3	115122744	missense	probably damaging	0.98
R7600:Olfm3	UTSW	3	115096940	missense	possibly damaging	0.65
R7976:Olfm3	UTSW	3	115081145	missense	probably benign	0.00
R8070:Olfm3	UTSW	3	115101955	missense	probably damaging	0.96
R8334:Olfm3	UTSW	3	115122557	missense	probably damaging	0.96
R8527:Olfm3	UTSW	3	115122547	missense	probably benign	0.10
R8542:Olfm3	UTSW	3	115122547	missense	probably benign	0.10
R8835:Olfm3	UTSW	3	115122412	missense	probably damaging	1.00
R9063:Olfm3	UTSW	3	115120933	missense	probably benign	0.36
R9594:Olfm3	UTSW	3	115090136	missense	probably damaging	1.00
Z1088:Olfm3	UTSW	3	114904668	start gained	probably benign
Z1177:Olfm3	UTSW	3	115081101	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGGTATTATCACCTTTTGAAGCC -3'
(R):5'- ATTTCCAACTTAGTGACTTGCTACC -3'

Sequencing Primer
(F):5'- GGAATCTTGTTGAAAATGAGACAAC -3'
(R):5'- GTGACTTGCTACCTGTATACAATGC -3'

Posted On

2016-11-08