Mutagenetix > Incidental Mutation

Incidental Mutation 'R0542:Olfm1'

49957

Institutional Source

Beutler Lab

Gene Symbol

Olfm1

Ensembl Gene

ENSMUSG00000026833

Gene Name

olfactomedin 1

Synonyms

Noelin 1, Pancortin 1-4, Noelin 2

MMRRC Submission

038734-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0542 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28083105-28120748 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28104640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 159 (D159G)

Ref Sequence

ENSEMBL: ENSMUSP00000028177 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028177
AA Change: D159G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028177
Gene: ENSMUSG00000026833
AA Change: D159G

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: D131G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000097815
Gene: ENSMUSG00000026833
AA Change: D131G

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 benign
Transcript: ENSMUST00000102879

SMART Domains

Protein: ENSMUSP00000099943
Gene: ENSMUSG00000026833

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: D116G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000109553
Gene: ENSMUSG00000026833
AA Change: D116G

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

0.0752

Coding Region Coverage

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

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	C	A	12: 70,210,269 (GRCm39)	N71K	possibly damaging	Het
Adgrl2	A	G	3: 148,564,854 (GRCm39)	I242T	probably damaging	Het
Adgrv1	A	G	13: 81,721,437 (GRCm39)	S714P	probably damaging	Het
Agap3	G	A	5: 24,705,184 (GRCm39)	R704Q	possibly damaging	Het
Ankrd11	T	C	8: 123,622,509 (GRCm39)	R448G	probably damaging	Het
Anks1b	T	C	10: 89,909,829 (GRCm39)		probably benign	Het
Caml	A	T	13: 55,770,974 (GRCm39)	Q24L	possibly damaging	Het
Cdc14b	G	A	13: 64,391,497 (GRCm39)	T124I	probably benign	Het
Clca3a2	A	G	3: 144,781,571 (GRCm39)		probably benign	Het
Col12a1	A	G	9: 79,512,610 (GRCm39)		probably null	Het
Crispld1	T	C	1: 17,816,992 (GRCm39)	V183A	possibly damaging	Het
Cstdc1	A	G	2: 148,624,092 (GRCm39)	N22S	probably benign	Het
Dhx40	C	T	11: 86,695,082 (GRCm39)		probably null	Het
Dmxl1	T	A	18: 50,026,761 (GRCm39)	D1956E	probably benign	Het
Dsc2	A	G	18: 20,184,283 (GRCm39)	V35A	probably damaging	Het
Dync2i2	A	G	2: 29,921,837 (GRCm39)	V508A	probably damaging	Het
Elovl2	A	G	13: 41,345,452 (GRCm39)		probably benign	Het
Gapvd1	T	C	2: 34,615,048 (GRCm39)		probably benign	Het
Gnaq	T	A	19: 16,196,982 (GRCm39)	I56N	probably damaging	Het
Gpr139	T	C	7: 118,744,306 (GRCm39)	D93G	probably benign	Het
Hars1	C	T	18: 36,904,234 (GRCm39)	R215H	probably benign	Het
Helz2	C	A	2: 180,873,882 (GRCm39)	W2204L	probably damaging	Het
Ift70b	A	G	2: 75,767,055 (GRCm39)	V566A	probably damaging	Het
Itgb6	A	T	2: 60,435,480 (GRCm39)	C757S	possibly damaging	Het
Kpnb1	G	A	11: 97,078,398 (GRCm39)	T5I	probably benign	Het
Krt82	T	C	15: 101,454,035 (GRCm39)		probably benign	Het
Lgals9	T	A	11: 78,860,546 (GRCm39)	K175N	possibly damaging	Het
Lrp2	A	G	2: 69,258,998 (GRCm39)	I4564T	probably benign	Het
Mblac1	A	G	5: 138,192,798 (GRCm39)	T47A	possibly damaging	Het
Med12l	G	A	3: 58,949,822 (GRCm39)	D182N	probably damaging	Het
Megf9	A	G	4: 70,353,585 (GRCm39)	I407T	probably benign	Het
Mtmr6	A	T	14: 60,529,578 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,624,907 (GRCm39)	T2173A	probably benign	Het
Mzt1	A	T	14: 99,277,938 (GRCm39)		probably benign	Het
Narf	T	C	11: 121,143,690 (GRCm39)	L444P	probably damaging	Het
Nsd1	A	T	13: 55,408,271 (GRCm39)	Q1305L	possibly damaging	Het
Ntsr1	A	G	2: 180,184,374 (GRCm39)	Y359C	probably damaging	Het
Or2l13b	A	T	16: 19,348,732 (GRCm39)	*313R	probably null	Het
Pcdh1	C	T	18: 38,322,975 (GRCm39)	V953I	probably damaging	Het
Pcdhb11	A	T	18: 37,556,887 (GRCm39)	D739V	probably damaging	Het
Pdgfd	A	G	9: 6,359,769 (GRCm39)	N280S	probably damaging	Het
Per2	A	T	1: 91,366,054 (GRCm39)		probably null	Het
Pfkp	G	T	13: 6,672,028 (GRCm39)	C122*	probably null	Het
Plxna4	G	A	6: 32,169,232 (GRCm39)	R1322W	probably damaging	Het
Ppox	A	G	1: 171,106,818 (GRCm39)	L202P	probably damaging	Het
Ppp1r3e	G	A	14: 55,114,588 (GRCm39)	P58L	probably benign	Het
Prr23a2	A	C	9: 98,739,086 (GRCm39)	N148T	probably benign	Het
Psd	T	C	19: 46,302,649 (GRCm39)	T842A	probably damaging	Het
Ranbp2	C	T	10: 58,314,236 (GRCm39)	A1652V	probably benign	Het
Rragd	G	A	4: 33,007,103 (GRCm39)	V144M	probably damaging	Het
Sema6a	T	G	18: 47,381,643 (GRCm39)	D968A	probably damaging	Het
Slc30a5	A	T	13: 100,945,793 (GRCm39)		probably null	Het
Snx17	G	T	5: 31,353,895 (GRCm39)		probably null	Het
Styxl2	A	T	1: 165,928,853 (GRCm39)	M253K	possibly damaging	Het
Syt14	G	T	1: 192,613,111 (GRCm39)	T563K	probably damaging	Het
Tada3	T	C	6: 113,352,175 (GRCm39)	K85E	probably damaging	Het
Tspear	T	C	10: 77,716,921 (GRCm39)	V532A	probably benign	Het
Ttn	A	T	2: 76,723,453 (GRCm39)	C6426S	possibly damaging	Het
Unc79	T	C	12: 103,060,437 (GRCm39)		probably benign	Het
Usp19	A	G	9: 108,371,584 (GRCm39)		probably null	Het
Vav3	G	A	3: 109,434,746 (GRCm39)	D426N	probably damaging	Het
Vezt	T	C	10: 93,842,958 (GRCm39)		probably null	Het
Vldlr	G	T	19: 27,213,655 (GRCm39)	R114L	probably benign	Het
Wwc2	C	T	8: 48,321,414 (GRCm39)	V567I	unknown	Het
Zfp423	T	C	8: 88,507,237 (GRCm39)	T911A	probably damaging	Het
Zfp719	A	G	7: 43,238,677 (GRCm39)		probably null	Het
Zkscan16	A	T	4: 58,956,597 (GRCm39)	H293L	possibly damaging	Het
Zkscan6	A	C	11: 65,719,525 (GRCm39)	N515T	possibly damaging	Het
Znfx1	A	G	2: 166,897,575 (GRCm39)	S450P	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
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
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'- ACTCACTGGGACCCGATAACTGAC -3'
(R):5'- ACTGTGGCTTCAGCATTGCTCC -3'

Sequencing Primer
(F):5'- CCCGATAACTGACGGATTGC -3'
(R):5'- ACGGAGCCTTTCTTCAAGATTG -3'

Posted On

2013-06-12