Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01358:Olfm1'

75591

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 #

IGL01358

Quality Score

Status

Chromosome

Chromosomal Location

28083105-28120748 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28119507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 381 (C381R)

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: C409R

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028177
Gene: ENSMUSG00000026833
AA Change: C409R

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: C381R

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

SMART Domains

Protein: ENSMUSP00000097815
Gene: ENSMUSG00000026833
AA Change: C381R

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: C366R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109553
Gene: ENSMUSG00000026833
AA Change: C366R

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	A	G	7: 27,335,579 (GRCm39)	Y316C	probably damaging	Het
Atp6v0a4	T	G	6: 38,051,145 (GRCm39)	D411A	probably damaging	Het
Calr3	A	T	8: 73,181,057 (GRCm39)	Y178*	probably null	Het
Ces1e	A	G	8: 93,940,778 (GRCm39)	L298P	probably damaging	Het
Clk3	T	C	9: 57,661,875 (GRCm39)	T391A	probably damaging	Het
Cr2	A	G	1: 194,842,128 (GRCm39)	I275T	probably damaging	Het
Cul9	G	T	17: 46,849,240 (GRCm39)	P635H	probably damaging	Het
Dhx33	G	A	11: 70,884,687 (GRCm39)	Q40*	probably null	Het
Dscam	A	T	16: 96,411,543 (GRCm39)	S1778T	possibly damaging	Het
Dsg2	T	A	18: 20,734,850 (GRCm39)	Y943N	probably damaging	Het
Eml1	A	T	12: 108,480,727 (GRCm39)	T398S	probably benign	Het
Epha3	G	A	16: 63,416,109 (GRCm39)		probably benign	Het
Hacl1	A	T	14: 31,348,374 (GRCm39)	M200K	probably benign	Het
Ighmbp2	T	A	19: 3,318,817 (GRCm39)	S420C	probably damaging	Het
Kcnt1	T	A	2: 25,806,017 (GRCm39)	I1200N	probably damaging	Het
Kctd21	T	A	7: 96,996,581 (GRCm39)	L18Q	probably damaging	Het
Krt78	A	C	15: 101,854,698 (GRCm39)	S1038A	probably benign	Het
Lrp2	C	A	2: 69,382,814 (GRCm39)		probably benign	Het
Lrrc41	T	A	4: 115,932,784 (GRCm39)	V60D	probably benign	Het
Mafk	T	C	5: 139,786,248 (GRCm39)	S149P	probably damaging	Het
Mest	T	A	6: 30,746,330 (GRCm39)		probably benign	Het
Nlrp1b	G	A	11: 71,072,682 (GRCm39)	T387I	possibly damaging	Het
Notch3	C	T	17: 32,363,721 (GRCm39)	D1140N	probably damaging	Het
Nxph2	A	G	2: 23,290,086 (GRCm39)	N146S	probably damaging	Het
Or56b1b	T	A	7: 108,164,409 (GRCm39)	R198W	probably benign	Het
Or5p81	C	T	7: 108,266,869 (GRCm39)	P82L	possibly damaging	Het
Parp11	C	T	6: 127,448,526 (GRCm39)	Q48*	probably null	Het
Pgc	T	C	17: 48,041,591 (GRCm39)	V175A	probably benign	Het
Pira12	A	G	7: 3,898,686 (GRCm39)	V254A	probably benign	Het
Plxna1	G	T	6: 89,299,732 (GRCm39)	T1679N	probably damaging	Het
Pnpt1	G	T	11: 29,088,425 (GRCm39)	L229F	possibly damaging	Het
Ppp1r12b	A	T	1: 134,819,897 (GRCm39)	L282Q	probably damaging	Het
Rag2	C	A	2: 101,460,365 (GRCm39)	A225D	possibly damaging	Het
Ralgps1	T	C	2: 33,033,061 (GRCm39)	D456G	possibly damaging	Het
Rasgrf2	T	A	13: 92,130,749 (GRCm39)	T170S	probably benign	Het
Rel	C	T	11: 23,711,155 (GRCm39)	S4N	probably benign	Het
Rims3	C	T	4: 120,748,700 (GRCm39)	S307F	possibly damaging	Het
Rnf123	A	G	9: 107,946,381 (GRCm39)	L290P	probably damaging	Het
Rtn4r	G	T	16: 17,969,260 (GRCm39)	M229I	possibly damaging	Het
Rusc2	G	A	4: 43,426,116 (GRCm39)	R1407Q	probably damaging	Het
Sec23ip	A	T	7: 128,354,521 (GRCm39)	Q259L	possibly damaging	Het
Slc24a4	G	A	12: 102,189,894 (GRCm39)	C204Y	probably benign	Het
Slc27a3	T	C	3: 90,293,859 (GRCm39)	T542A	probably damaging	Het
Smarcal1	A	T	1: 72,655,724 (GRCm39)	I668F	possibly damaging	Het
Snap91	C	A	9: 86,688,613 (GRCm39)	V311F	probably damaging	Het
Sp8	T	A	12: 118,812,705 (GRCm39)	S187T	probably damaging	Het
Tcerg1	T	C	18: 42,657,342 (GRCm39)	S275P	unknown	Het
Vwce	T	A	19: 10,641,773 (GRCm39)	V833D	possibly damaging	Het
Zbtb8b	A	G	4: 129,327,052 (GRCm39)	S38P	probably damaging	Het
Zfp598	T	C	17: 24,900,398 (GRCm39)		probably benign	Het
Zkscan4	G	A	13: 21,668,475 (GRCm39)	E309K	possibly 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
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
IGL02974:Olfm1	APN	2	28,119,701 (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

2013-10-07