Mutagenetix > Incidental Mutation

Incidental Mutation 'R0411:Olfm1'

36635

Institutional Source

Beutler Lab

Gene Symbol

Olfm1

Ensembl Gene

ENSMUSG00000026833

Gene Name

olfactomedin 1

Synonyms

Noelin 1, Pancortin 1-4, Noelin 2

MMRRC Submission

038613-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0411 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28083105-28120748 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 28098223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 95 (R95K)

Ref Sequence

ENSEMBL: ENSMUSP00000099943 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028177] [ENSMUST00000100244] [ENSMUST00000102879] [ENSMUST00000113920]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028177
AA Change: R95K

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028177
Gene: ENSMUSG00000026833
AA Change: R95K

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 benign
Transcript: ENSMUST00000100244
AA Change: R67K

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097815
Gene: ENSMUSG00000026833
AA Change: R67K

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

possibly damaging
Transcript: ENSMUST00000102879
AA Change: R95K

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099943
Gene: ENSMUSG00000026833
AA Change: R95K

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Noelin-1	53	153	4.3e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113920
AA Change: R52K

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109553
Gene: ENSMUSG00000026833
AA Change: R52K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152415

Meta Mutation Damage Score

0.1137

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (66/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 64,053,834 (GRCm39)		probably benign	Het
6030469F06Rik	A	T	12: 31,234,730 (GRCm39)		noncoding transcript	Het
Acad11	T	C	9: 103,993,495 (GRCm39)	F541L	probably damaging	Het
Acin1	G	T	14: 54,884,231 (GRCm39)	R92S	probably damaging	Het
Appl1	A	G	14: 26,662,213 (GRCm39)	S490P	probably benign	Het
Aqp9	C	A	9: 71,037,726 (GRCm39)	V184L	probably benign	Het
Arih1	A	T	9: 59,393,266 (GRCm39)	I122N	possibly damaging	Het
Bmi1	T	C	2: 18,687,983 (GRCm39)		probably benign	Het
Bmpr1a	G	A	14: 34,137,834 (GRCm39)	T391I	possibly damaging	Het
Cacna1s	A	G	1: 136,041,041 (GRCm39)	K1256E	probably damaging	Het
Cacng3	C	T	7: 122,367,795 (GRCm39)	P225L	probably damaging	Het
Cd101	A	T	3: 100,925,843 (GRCm39)		probably null	Het
Cd55	A	G	1: 130,390,294 (GRCm39)		probably benign	Het
Cenpe	T	C	3: 134,928,016 (GRCm39)	I258T	probably damaging	Het
Cfap251	C	T	5: 123,428,117 (GRCm39)	T538M	probably damaging	Het
Cma2	A	G	14: 56,211,135 (GRCm39)		probably benign	Het
Ddost	T	A	4: 138,036,964 (GRCm39)	S176T	probably benign	Het
Ddx19b	A	T	8: 111,750,596 (GRCm39)		probably null	Het
Dmxl2	A	G	9: 54,286,223 (GRCm39)	I2681T	probably damaging	Het
Ern1	C	T	11: 106,289,412 (GRCm39)	E964K	probably benign	Het
Exoc1l	G	T	5: 76,648,334 (GRCm39)	V47L	possibly damaging	Het
Galntl5	C	T	5: 25,425,172 (GRCm39)	R430C	probably benign	Het
Gga3	A	G	11: 115,478,259 (GRCm39)	L511P	probably damaging	Het
Gria2	C	T	3: 80,618,165 (GRCm39)		probably benign	Het
Hmbs	A	T	9: 44,252,949 (GRCm39)	L28*	probably null	Het
Iffo2	A	G	4: 139,330,532 (GRCm39)	E220G	probably damaging	Het
Ifi30	A	G	8: 71,217,562 (GRCm39)		probably benign	Het
Irf2	T	A	8: 47,299,096 (GRCm39)	C297S	probably benign	Het
Izumo4	T	C	10: 80,538,918 (GRCm39)	Y94H	probably damaging	Het
Klhdc9	A	G	1: 171,187,353 (GRCm39)	V215A	probably benign	Het
Kmt2a	T	C	9: 44,731,261 (GRCm39)		probably benign	Het
Kmt2c	A	T	5: 25,580,955 (GRCm39)	C513S	probably damaging	Het
Lyg1	A	T	1: 37,988,977 (GRCm39)	M81K	possibly damaging	Het
Maip1	T	G	1: 57,454,852 (GRCm39)	W279G	probably damaging	Het
Myo7a	T	C	7: 97,721,144 (GRCm39)	T1263A	probably benign	Het
Naa15	T	A	3: 51,373,060 (GRCm39)	I701N	possibly damaging	Het
Ncoa3	A	G	2: 165,910,463 (GRCm39)	N1292S	probably benign	Het
Necab2	T	A	8: 120,180,979 (GRCm39)		probably benign	Het
Nfatc1	T	A	18: 80,741,257 (GRCm39)	I234F	possibly damaging	Het
Or10ag56	A	G	2: 87,139,402 (GRCm39)	T90A	probably benign	Het
Or10ak8	A	T	4: 118,773,823 (GRCm39)	N280K	possibly damaging	Het
Otoa	T	C	7: 120,755,750 (GRCm39)		probably null	Het
Padi4	GCTGCGTACCTCCAC	GC	4: 140,475,760 (GRCm39)		probably benign	Het
Pard6g	A	G	18: 80,160,337 (GRCm39)	D150G	probably damaging	Het
Pax5	A	G	4: 44,609,783 (GRCm39)	L215S	probably damaging	Het
Pja2	A	T	17: 64,594,516 (GRCm39)		probably benign	Het
Plk4	T	A	3: 40,765,654 (GRCm39)		probably benign	Het
Polr1a	A	T	6: 71,955,405 (GRCm39)	H1687L	possibly damaging	Het
Ptcd2	G	A	13: 99,479,899 (GRCm39)	L41F	probably damaging	Het
Ropn1	T	A	16: 34,490,334 (GRCm39)	S62T	probably benign	Het
Setd1a	T	C	7: 127,395,223 (GRCm39)		probably benign	Het
Setdb1	T	C	3: 95,234,997 (GRCm39)	D902G	probably damaging	Het
Sik3	T	A	9: 46,120,068 (GRCm39)	L719Q	probably damaging	Het
Slc36a1	G	T	11: 55,123,333 (GRCm39)	V433F	probably benign	Het
Slc6a3	T	C	13: 73,705,169 (GRCm39)	V220A	possibly damaging	Het
Slc6a5	A	T	7: 49,561,539 (GRCm39)	R24W	probably damaging	Het
Smox	G	T	2: 131,362,564 (GRCm39)	R281L	probably benign	Het
Sulf2	G	T	2: 165,935,436 (GRCm39)	H226N	probably damaging	Het
Syne2	C	T	12: 76,106,358 (GRCm39)		probably null	Het
Tenm3	C	T	8: 48,740,826 (GRCm39)	S1210N	possibly damaging	Het
Tns1	A	T	1: 73,964,920 (GRCm39)	V1237E	probably damaging	Het
Trf	C	T	9: 103,094,700 (GRCm39)	V92M	probably damaging	Het
Ttn	A	G	2: 76,539,717 (GRCm39)	V34423A	possibly damaging	Het
Vmn2r118	A	G	17: 55,918,021 (GRCm39)		probably benign	Het
Vmn2r19	A	G	6: 123,286,703 (GRCm39)	Y112C	probably damaging	Het
Zfp326	G	T	5: 106,026,641 (GRCm39)	A15S	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- GAGGTCAAAACTCTGAGCACCCAG -3'
(R):5'- GAAGCAGGTGTACTCATCTCCCAAC -3'

Sequencing Primer
(F):5'- ACCCAGGGTTGAACATGC -3'
(R):5'- TCATCTCCCAACCAGGGC -3'

Posted On

2013-05-09