Mutagenetix > Incidental Mutations

Incidental Mutation 'R7835:Olfm5'

605918

Institutional Source

Beutler Lab

Gene Symbol

Olfm5

Ensembl Gene

ENSMUSG00000044265

Gene Name

olfactomedin 5

Synonyms

E030002O03Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R7835 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104153013-104164831 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 104154445 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 195 (Y195*)

Ref Sequence

ENSEMBL: ENSMUSP00000117893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051137] [ENSMUST00000059121] [ENSMUST00000154555]

AlphaFold

Q8BU90

Predicted Effect

probably null
Transcript: ENSMUST00000051137
AA Change: Y270*

SMART Domains

Protein: ENSMUSP00000052174
Gene: ENSMUSG00000044265
AA Change: Y270*

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
coiled coil region	47	85	N/A	INTRINSIC
coiled coil region	157	198	N/A	INTRINSIC
OLF	211	468	3.13e-70	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000059121

SMART Domains

Protein: ENSMUSP00000056365
Gene: ENSMUSG00000051437

Domain	Start	End	E-Value	Type
UBQ	31	101	5.13e-16	SMART
Blast:STI1	199	237	8e-11	BLAST
low complexity region	339	350	N/A	INTRINSIC
low complexity region	402	419	N/A	INTRINSIC
PDB:2DNA\|A	561	610	3e-26	PDB
Blast:UBA	568	604	1e-10	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000154555
AA Change: Y195*

SMART Domains

Protein: ENSMUSP00000117893
Gene: ENSMUSG00000044265
AA Change: Y195*

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
coiled coil region	47	123	N/A	INTRINSIC
OLF	136	304	3.65e-10	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	A	7: 79,099,875	S1465T	probably benign	Het
Accsl	T	A	2: 93,865,984	K90*	probably null	Het
Adamts3	A	T	5: 89,700,440	D674E	possibly damaging	Het
Adap2	T	A	11: 80,160,231	V129D	probably benign	Het
Ank3	A	G	10: 69,987,727	D742G		Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
C330021F23Rik	A	G	8: 3,580,452		probably benign	Het
Cachd1	G	T	4: 100,974,153		probably null	Het
Ccne1	G	T	7: 38,102,845	Q133K	probably benign	Het
Cers3	C	T	7: 66,773,639	H111Y	possibly damaging	Het
Chst5	A	T	8: 111,890,602	L129M	probably damaging	Het
Depdc7	A	G	2: 104,728,185	S164P	probably benign	Het
Dnah10	G	A	5: 124,777,234	A1966T	probably damaging	Het
Fam208a	G	T	14: 27,476,643	G1311C	probably damaging	Het
Fcgbp	T	G	7: 28,117,207	S2365A	possibly damaging	Het
Ihh	A	G	1: 74,946,366	V320A	probably damaging	Het
Kdm5d	T	C	Y: 900,558	V201A	possibly damaging	Het
Kif13b	T	A	14: 64,767,452	H1117Q	probably benign	Het
Lcn8	C	A	2: 25,655,296		probably null	Het
Lrp4	T	C	2: 91,495,042	V1404A	possibly damaging	Het
Lrrc61	A	T	6: 48,568,572	T110S	probably benign	Het
Mrpl19	G	A	6: 81,962,126	R232C	probably damaging	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Mzt1	T	C	14: 99,046,003	T21A	probably benign	Het
Naip6	G	T	13: 100,316,004	A183E	probably benign	Het
Neb	T	C	2: 52,150,577	D6624G	probably benign	Het
Nup85	A	G	11: 115,570,071	D183G	probably benign	Het
Olfr828	T	A	9: 18,815,809	M162L	probably benign	Het
Piezo2	A	T	18: 63,082,945	F1216I	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Polr1a	T	C	6: 71,915,142	V135A	probably benign	Het
Ppcdc	A	G	9: 57,420,276	S83P	probably benign	Het
Prss21	A	T	17: 23,869,451	Q130L	possibly damaging	Het
Rdx	T	A	9: 52,065,788	N112K	probably damaging	Het
Rgs22	A	G	15: 36,081,911		probably null	Het
Rps26	C	T	10: 128,626,126	V40I	probably benign	Het
Runx2	A	T	17: 44,608,236	M405K	probably damaging	Het
Serinc2	A	C	4: 130,275,487	C4G	unknown	Het
Sh3rf2	C	A	18: 42,111,170	R266S	probably benign	Het
Slc38a10	A	G	11: 120,116,996	I386T	possibly damaging	Het
Stab2	G	A	10: 86,872,619	P1694L	probably benign	Het
Taf4	G	A	2: 179,932,029	T682M	probably damaging	Het
Tmem102	A	G	11: 69,804,345	V267A	probably damaging	Het
Trim65	A	G	11: 116,130,929	L26P	probably damaging	Het
Vmn1r160	T	A	7: 22,871,954	M244K	possibly damaging	Het
Vmn1r57	A	T	7: 5,221,139	H221L	probably benign	Het
Wdr89	C	A	12: 75,632,899	V194F	probably damaging	Het
Wee1	C	A	7: 110,130,878	Y396*	probably null	Het
Zfp451	A	T	1: 33,772,979	V885D	probably damaging	Het
Zfp981	A	T	4: 146,537,876	Q419H	probably benign	Het
Znfx1	A	G	2: 167,039,827	Y1081H	probably damaging	Het

Other mutations in Olfm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01843:Olfm5	APN	7	104160744	missense	possibly damaging	0.77
IGL02097:Olfm5	APN	7	104154231	missense	probably benign	0.20
IGL02322:Olfm5	APN	7	104154401	missense	probably damaging	1.00
IGL02324:Olfm5	APN	7	104154095	splice site	probably null
IGL02702:Olfm5	APN	7	104154357	missense	probably damaging	1.00
R0128:Olfm5	UTSW	7	104160926	missense	probably benign
R0400:Olfm5	UTSW	7	104154179	missense	probably damaging	1.00
R0600:Olfm5	UTSW	7	104153869	nonsense	probably null
R0610:Olfm5	UTSW	7	104154445	nonsense	probably null
R0699:Olfm5	UTSW	7	104154119	missense	probably damaging	1.00
R1960:Olfm5	UTSW	7	104160412	missense	possibly damaging	0.85
R1978:Olfm5	UTSW	7	104164741	missense	unknown
R2391:Olfm5	UTSW	7	104160834	missense	probably benign	0.00
R3774:Olfm5	UTSW	7	104161849	missense	possibly damaging	0.67
R4632:Olfm5	UTSW	7	104160893	missense	probably benign	0.00
R4770:Olfm5	UTSW	7	104160478	missense	probably benign	0.04
R4838:Olfm5	UTSW	7	104154365	missense	probably damaging	1.00
R5274:Olfm5	UTSW	7	104159983	missense	probably damaging	1.00
R5455:Olfm5	UTSW	7	104154462	missense	probably damaging	0.99
R5930:Olfm5	UTSW	7	104154155	missense	probably damaging	1.00
R6416:Olfm5	UTSW	7	104154053	missense	probably damaging	1.00
R7126:Olfm5	UTSW	7	104159980	missense	probably damaging	1.00
R7535:Olfm5	UTSW	7	104154237	missense	possibly damaging	0.92
R7682:Olfm5	UTSW	7	104161772	missense	probably null	0.49
R8308:Olfm5	UTSW	7	104154399	missense	probably damaging	1.00
R8531:Olfm5	UTSW	7	104153822	missense	probably benign	0.00
R9035:Olfm5	UTSW	7	104153892	missense	probably damaging	1.00
R9072:Olfm5	UTSW	7	104153777	missense	probably benign
R9185:Olfm5	UTSW	7	104160888	nonsense	probably null
X0011:Olfm5	UTSW	7	104153946	missense	possibly damaging	0.91
Z1088:Olfm5	UTSW	7	104154150	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTGTTGTAGGTGGCACCAG -3'
(R):5'- ATGCCATATGAGACTTCCCAC -3'

Sequencing Primer
(F):5'- CCAGGCAATGGGCGTCG -3'
(R):5'- ATGTACACATCTTTAGGGCTGACCG -3'

Posted On

2019-12-20