Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02974:Olfm1'

406265

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfm1

Ensembl Gene

ENSMUSG00000026833

Gene Name

olfactomedin 1

Synonyms

Noelin 1, Pancortin 1-4, Noelin 2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02974

Quality Score

Status

Chromosome

Chromosomal Location

28083105-28120748 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 28119701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 445 (N445K)

Ref Sequence

ENSEMBL: ENSMUSP00000097815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028177] [ENSMUST00000100244] [ENSMUST00000113920]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028177
AA Change: N473K

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028177
Gene: ENSMUSG00000026833
AA Change: N473K

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Noelin-1	54	153	1.5e-50	PFAM
Blast:OLF	170	215	1e-5	BLAST
OLF	228	478	5.43e-170	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000100244
AA Change: N445K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097815
Gene: ENSMUSG00000026833
AA Change: N445K

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Noelin-1	25	125	2.6e-53	PFAM
Blast:OLF	142	187	1e-5	BLAST
OLF	200	450	5.43e-170	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113920
AA Change: N430K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109553
Gene: ENSMUSG00000026833
AA Change: N430K

Domain	Start	End	E-Value	Type
Pfam:Noelin-1	10	110	7.4e-53	PFAM
Blast:OLF	127	172	1e-5	BLAST
OLF	185	435	5.43e-170	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product shares extensive sequence similarity with the rat neuronal olfactomedin-related ER localized protein. While the exact function of the encoded protein is not known, its abundant expression in brain suggests that it may have an essential role in nerve tissue. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display decreased cerebral infarction size and reduced fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	C	T	5: 48,545,479 (GRCm39)	T242M	probably damaging	Het
Abcg3	A	T	5: 105,116,129 (GRCm39)	I235N	probably damaging	Het
Agbl3	T	C	6: 34,776,757 (GRCm39)	L416S	probably damaging	Het
Alcam	T	C	16: 52,116,079 (GRCm39)	D165G	probably benign	Het
Aldh18a1	T	A	19: 40,557,528 (GRCm39)	I341F	probably damaging	Het
Amn	T	C	12: 111,237,575 (GRCm39)	V7A	probably benign	Het
Apc	C	T	18: 34,401,436 (GRCm39)		probably benign	Het
Arg2	T	C	12: 79,197,566 (GRCm39)	Y195H	probably damaging	Het
Bdp1	A	T	13: 100,191,800 (GRCm39)	M22K	probably benign	Het
Cacna1s	T	G	1: 136,020,355 (GRCm39)	N797K	possibly damaging	Het
Chd8	T	A	14: 52,439,158 (GRCm39)		probably null	Het
Clstn2	G	A	9: 97,414,760 (GRCm39)	T378M	probably damaging	Het
Elf2	A	G	3: 51,165,110 (GRCm39)	V298A	probably damaging	Het
Fbn1	C	T	2: 125,188,250 (GRCm39)	D1530N	probably null	Het
Fcrl2	A	T	3: 87,164,704 (GRCm39)	I274N	possibly damaging	Het
Fmo3	C	T	1: 162,810,619 (GRCm39)	E24K	probably damaging	Het
Fndc3b	A	T	3: 27,542,425 (GRCm39)	N408K	probably damaging	Het
Foxn2	A	T	17: 88,770,543 (GRCm39)	N130I	probably damaging	Het
Fscb	T	A	12: 64,518,299 (GRCm39)	I1056F	unknown	Het
Gimap5	A	C	6: 48,730,311 (GRCm39)	T294P	possibly damaging	Het
Gm20489	T	C	X: 100,307,320 (GRCm39)	Q11R	probably damaging	Het
Gpr3	T	C	4: 132,938,220 (GRCm39)	T151A	possibly damaging	Het
Gzmc	T	A	14: 56,471,451 (GRCm39)	H30L	probably damaging	Het
Ints6l	C	A	X: 55,552,296 (GRCm39)	S845Y	probably benign	Het
Iqcf3	A	T	9: 106,430,844 (GRCm39)	C101*	probably null	Het
Krt82	G	A	15: 101,459,020 (GRCm39)	Q7*	probably null	Het
L3mbtl1	A	T	2: 162,812,103 (GRCm39)	H716L	possibly damaging	Het
Lefty1	C	A	1: 180,762,842 (GRCm39)	H56Q	probably benign	Het
Lrp1	T	C	10: 127,390,885 (GRCm39)	Y3004C	probably damaging	Het
Lrp10	C	A	14: 54,705,341 (GRCm39)	S177*	probably null	Het
Naa15	A	G	3: 51,368,628 (GRCm39)	K576R	possibly damaging	Het
Naip2	A	G	13: 100,298,186 (GRCm39)	S617P	probably damaging	Het
Or4ac1-ps1	C	T	2: 88,370,579 (GRCm39)		silent	Het
Or5b24	T	G	19: 12,912,399 (GRCm39)	V99G	probably benign	Het
Ostm1	T	A	10: 42,559,158 (GRCm39)	N139K	probably damaging	Het
Ovol1	A	G	19: 5,601,177 (GRCm39)	Y205H	probably damaging	Het
Pappa	C	T	4: 65,123,172 (GRCm39)	L836F	probably damaging	Het
Pcdhb15	C	A	18: 37,608,067 (GRCm39)	T433N	probably damaging	Het
Ppfia2	A	G	10: 106,636,637 (GRCm39)	K229E	probably benign	Het
Ppm1b	T	A	17: 85,301,252 (GRCm39)	V44E	possibly damaging	Het
Rapgef1	T	C	2: 29,600,228 (GRCm39)	F611L	possibly damaging	Het
Rev3l	T	A	10: 39,738,743 (GRCm39)	Y2832*	probably null	Het
Robo1	T	A	16: 72,803,750 (GRCm39)	Y1099N	probably benign	Het
Sf3b1	T	C	1: 55,046,866 (GRCm39)	H226R	probably benign	Het
Slc26a4	C	T	12: 31,579,553 (GRCm39)	V570I	probably damaging	Het
Slc27a1	C	A	8: 72,036,847 (GRCm39)	A361D	probably damaging	Het
Srp68	T	C	11: 116,137,051 (GRCm39)	N549D	probably benign	Het
Terb1	G	T	8: 105,221,600 (GRCm39)	S202*	probably null	Het
Tmc1	T	A	19: 20,878,208 (GRCm39)	M96L	probably benign	Het
Tmprss11d	A	G	5: 86,454,235 (GRCm39)	V190A	probably damaging	Het
Ttll6	G	A	11: 96,047,528 (GRCm39)	C709Y	probably benign	Het
Uba1	A	G	X: 20,544,959 (GRCm39)	H712R	probably benign	Het
Unc80	A	C	1: 66,564,817 (GRCm39)	T835P	possibly damaging	Het
Vmn2r14	G	A	5: 109,369,292 (GRCm39)	P94S	possibly damaging	Het
Yes1	C	T	5: 32,818,112 (GRCm39)	A383V	probably damaging	Het

Other mutations in Olfm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Olfm1	APN	2	28,104,715 (GRCm39)	missense	probably damaging	1.00
IGL01326:Olfm1	APN	2	28,119,564 (GRCm39)	missense	probably damaging	1.00
IGL01358:Olfm1	APN	2	28,119,507 (GRCm39)	missense	probably damaging	1.00
IGL02076:Olfm1	APN	2	28,112,637 (GRCm39)	missense	probably damaging	0.99
IGL02337:Olfm1	APN	2	28,119,697 (GRCm39)	missense	probably damaging	1.00
IGL02693:Olfm1	APN	2	28,102,662 (GRCm39)	missense	probably damaging	1.00
IGL02825:Olfm1	APN	2	28,119,090 (GRCm39)	missense	probably damaging	1.00
R0266:Olfm1	UTSW	2	28,119,619 (GRCm39)	missense	probably damaging	1.00
R0348:Olfm1	UTSW	2	28,102,554 (GRCm39)	missense	probably benign	0.26
R0411:Olfm1	UTSW	2	28,098,223 (GRCm39)	missense	possibly damaging	0.51
R0542:Olfm1	UTSW	2	28,104,640 (GRCm39)	missense	possibly damaging	0.85
R1252:Olfm1	UTSW	2	28,119,447 (GRCm39)	missense	probably benign	0.01
R1649:Olfm1	UTSW	2	28,119,279 (GRCm39)	missense	possibly damaging	0.71
R1696:Olfm1	UTSW	2	28,098,128 (GRCm39)	nonsense	probably null
R1931:Olfm1	UTSW	2	28,112,674 (GRCm39)	splice site	probably null
R1986:Olfm1	UTSW	2	28,104,718 (GRCm39)	missense	probably benign	0.13
R3749:Olfm1	UTSW	2	28,098,100 (GRCm39)	missense	probably damaging	0.96
R3913:Olfm1	UTSW	2	28,098,186 (GRCm39)	missense	possibly damaging	0.88
R4927:Olfm1	UTSW	2	28,104,798 (GRCm39)	missense	probably benign	0.18
R4940:Olfm1	UTSW	2	28,112,602 (GRCm39)	missense	possibly damaging	0.51
R7033:Olfm1	UTSW	2	28,119,348 (GRCm39)	missense	probably damaging	1.00
R7059:Olfm1	UTSW	2	28,112,628 (GRCm39)	missense	probably damaging	1.00
R8046:Olfm1	UTSW	2	28,119,135 (GRCm39)	missense	possibly damaging	0.71
X0018:Olfm1	UTSW	2	28,119,381 (GRCm39)	missense	possibly damaging	0.51

Posted On

2016-08-02