Mutagenetix > Incidental Mutation

Incidental Mutation 'R1428:Olfm4'

161409

Institutional Source

Beutler Lab

Gene Symbol

Olfm4

Ensembl Gene

ENSMUSG00000022026

Gene Name

olfactomedin 4

Synonyms

GW112, OlfD, pPD4, GC1, LOC239192, LOC380924

MMRRC Submission

039484-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R1428 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79984081-80023139 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80021403 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 331 (Y331N)

Ref Sequence

ENSEMBL: ENSMUSP00000154285 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088735] [ENSMUST00000228749]

AlphaFold

Q3UZZ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000088735
AA Change: Y364N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000086112
Gene: ENSMUSG00000022026
AA Change: Y364N

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	32	43	N/A	INTRINSIC
low complexity region	225	243	N/A	INTRINSIC
OLF	274	532	8.53e-72	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226541

Predicted Effect

probably damaging
Transcript: ENSMUST00000228749
AA Change: Y331N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.9345

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.2%

Validation Efficiency

98% (56/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was originally cloned from human myeloblasts and found to be selectively expressed in inflammed colonic epithelium. This gene encodes a member of the olfactomedin family. The encoded protein is an antiapoptotic factor that promotes tumor growth and is an extracellular matrix glycoprotein that facilitates cell adhesion. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced colonization of the gastric mucosa by Helicobacter pylori but increased inflammatory response to H. pylori infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,952,411	I249M	possibly damaging	Het
2410089E03Rik	T	A	15: 8,219,369	Y1801N	possibly damaging	Het
Abl1	G	T	2: 31,801,810	A1114S	probably damaging	Het
Acbd5	T	C	2: 23,099,721	V452A	probably damaging	Het
Armc12	A	G	17: 28,537,936	D225G	probably damaging	Het
Atad3a	T	A	4: 155,755,682	Q121H	probably damaging	Het
Bptf	T	A	11: 107,073,047	I1711F	probably damaging	Het
C2cd4c	A	T	10: 79,612,230	I361N	probably damaging	Het
Canx	A	G	11: 50,308,394		probably benign	Het
Ccdc127	C	T	13: 74,356,915	T194I	probably benign	Het
Cdc42ep3	T	C	17: 79,335,036	K152E	probably benign	Het
Cdh15	G	C	8: 122,857,495	E112Q	probably damaging	Het
Cnbd2	T	C	2: 156,339,284		probably null	Het
Crybg1	T	C	10: 43,975,078	N1599S	probably benign	Het
Cyc1	T	C	15: 76,344,348	V59A	probably benign	Het
Cyp2j11	T	C	4: 96,294,880	K484E	probably benign	Het
Ddx60	T	C	8: 61,958,159		probably benign	Het
Epg5	T	C	18: 77,962,427	S711P	probably damaging	Het
Espl1	A	T	15: 102,305,685	Q649L	probably benign	Het
Eya1	G	A	1: 14,304,414		probably benign	Het
Fam214a	A	T	9: 75,006,321	T79S	probably benign	Het
Fam71e2	T	A	7: 4,757,688	H675L	possibly damaging	Het
Fat2	T	A	11: 55,296,087	Y1311F	probably damaging	Het
Gins4	T	C	8: 23,227,128	Y208C	probably damaging	Het
Gsk3b	T	C	16: 38,090,575	V17A	probably benign	Het
Gykl1	A	T	18: 52,694,761	K347I	probably benign	Het
Helz	T	A	11: 107,592,840		probably benign	Het
Hivep3	C	T	4: 120,096,575	T696I	possibly damaging	Het
Ifi27l2a	G	T	12: 103,442,834		probably benign	Het
Kif13a	A	G	13: 46,791,511		probably benign	Het
Kpna3	C	T	14: 61,383,220		probably benign	Het
Mmp15	C	G	8: 95,369,562	P327R	probably benign	Het
Mrc1	A	T	2: 14,315,263	T1003S	probably benign	Het
Mtss1	T	C	15: 58,947,390	D393G	probably benign	Het
Olfr1255	G	C	2: 89,816,381	L12F	probably damaging	Het
Olfr517	T	A	7: 108,868,960	N65Y	probably damaging	Het
P2rx3	G	C	2: 85,024,950	T54R	possibly damaging	Het
Pacsin1	C	T	17: 27,705,963	T217I	probably damaging	Het
Phlpp1	A	G	1: 106,380,425		probably null	Het
Pknox1	T	C	17: 31,592,092		probably benign	Het
Plb1	A	G	5: 32,264,912	R70G	possibly damaging	Het
Rab3gap2	G	A	1: 185,247,904	A340T	probably damaging	Het
Rnf103	T	A	6: 71,508,999	W205R	probably damaging	Het
Rps6kc1	G	A	1: 190,798,726	T936M	probably damaging	Het
Spef2	T	C	15: 9,596,707		probably benign	Het
Sstr4	A	G	2: 148,396,359	S297G	probably benign	Het
Timm8a1	C	T	X: 134,538,123	E93K	probably benign	Het
Uck1	A	C	2: 32,258,355	Y150D	probably damaging	Het
Yipf4	A	G	17: 74,498,305		probably benign	Het

Other mutations in Olfm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00532:Olfm4	APN	14	80021143	missense	probably benign	0.12
IGL01108:Olfm4	APN	14	80021899	missense	probably benign	0.15
IGL01599:Olfm4	APN	14	80021310	missense	probably damaging	1.00
IGL01872:Olfm4	APN	14	80021928	makesense	probably null
IGL01928:Olfm4	APN	14	80011952	missense	possibly damaging	0.71
IGL02333:Olfm4	APN	14	80021770	missense	probably damaging	1.00
IGL02336:Olfm4	APN	14	80006321	missense	probably damaging	1.00
IGL02811:Olfm4	APN	14	80021673	missense	probably damaging	1.00
PIT4651001:Olfm4	UTSW	14	80021485	missense	probably benign	0.00
R1649:Olfm4	UTSW	14	80011982	missense	probably damaging	0.98
R2139:Olfm4	UTSW	14	80014315	missense	probably benign	0.00
R2270:Olfm4	UTSW	14	80011875	missense	probably damaging	0.96
R2401:Olfm4	UTSW	14	80021752	missense	probably damaging	1.00
R4527:Olfm4	UTSW	14	80021224	missense	probably benign	0.13
R4649:Olfm4	UTSW	14	80021307	missense	probably benign	0.00
R5232:Olfm4	UTSW	14	80021682	missense	probably damaging	1.00
R5512:Olfm4	UTSW	14	80021347	missense	probably benign	0.32
R6198:Olfm4	UTSW	14	80000373	missense	probably benign	0.18
R6642:Olfm4	UTSW	14	80021667	missense	probably damaging	1.00
R6828:Olfm4	UTSW	14	80021533	missense	probably damaging	1.00
R6916:Olfm4	UTSW	14	80014198	missense	probably damaging	0.97
R6960:Olfm4	UTSW	14	80021314	missense	probably damaging	0.97
R7329:Olfm4	UTSW	14	80011929	missense	possibly damaging	0.79
R7971:Olfm4	UTSW	14	80021800	missense	probably damaging	0.98
R8872:Olfm4	UTSW	14	80021503	missense	probably damaging	1.00
R9008:Olfm4	UTSW	14	80018167	missense	unknown
R9398:Olfm4	UTSW	14	80011809	missense	probably benign	0.12
R9599:Olfm4	UTSW	14	80006307	missense	probably damaging	1.00
R9600:Olfm4	UTSW	14	80006307	missense	probably damaging	1.00
R9784:Olfm4	UTSW	14	80011908	missense	probably damaging	0.99
Z1176:Olfm4	UTSW	14	80021219	missense	probably benign	0.39
Z1177:Olfm4	UTSW	14	80000452	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- ATGGTGGCGTGGTGAACATCAG -3'
(R):5'- TGCTCATCCACAGCAAGGTCAATG -3'

Sequencing Primer
(F):5'- TGTGATTCAGCTCAACTGGC -3'
(R):5'- AGGTCAATGTCTTGCCAATTCAC -3'

Posted On

2014-03-14