Mutagenetix > Incidental Mutation

Incidental Mutation 'R2270:Olfm4'

242420

Institutional Source

Beutler Lab

Gene Symbol

Olfm4

Ensembl Gene

ENSMUSG00000022026

Gene Name

olfactomedin 4

Synonyms

GC1, OlfD, pPD4, LOC380924, LOC239192, GW112

MMRRC Submission

040270-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R2270 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80237742-80260581 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 80249315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 144 (T144K)

Ref Sequence

ENSEMBL: ENSMUSP00000086112 (fasta)

Gene Model

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

AlphaFold

Q3UZZ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000088735
AA Change: T144K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000086112
Gene: ENSMUSG00000022026
AA Change: T144K

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

possibly damaging
Transcript: ENSMUST00000228749
AA Change: T144K

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.6%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	G	A	19: 57,065,863 (GRCm39)	R54W	possibly damaging	Het
Adam22	T	C	5: 8,171,108 (GRCm39)	E614G	probably damaging	Het
Ap4e1	T	C	2: 126,889,083 (GRCm39)		probably null	Het
Arid3c	T	A	4: 41,724,744 (GRCm39)	I364F	probably damaging	Het
Atp11b	A	G	3: 35,864,283 (GRCm39)		probably null	Het
Bmal2	T	C	6: 146,723,612 (GRCm39)	F314S	probably damaging	Het
Carnmt1	T	C	19: 18,680,734 (GRCm39)	L336P	probably damaging	Het
Cdh22	A	T	2: 164,985,767 (GRCm39)		probably null	Het
Cdk5rap2	A	C	4: 70,184,915 (GRCm39)	S1178R	probably benign	Het
Chat	T	C	14: 32,176,538 (GRCm39)	R79G	probably damaging	Het
Chek1	A	G	9: 36,630,982 (GRCm39)	L144P	probably damaging	Het
Cracr2a	T	A	6: 127,584,261 (GRCm39)	F107I	probably damaging	Het
Crip2	A	C	12: 113,108,486 (GRCm39)	K62N	probably damaging	Het
Ddc	T	C	11: 11,785,764 (GRCm39)	N308D	probably damaging	Het
Dnm3	A	T	1: 162,305,358 (GRCm39)	L12Q	probably damaging	Het
Eftud2	T	C	11: 102,755,607 (GRCm39)	N200S	probably damaging	Het
Fgfbp1	T	A	5: 44,136,672 (GRCm39)	M207L	probably benign	Het
Fry	A	G	5: 150,324,389 (GRCm39)	I1151V	probably null	Het
Garem2	T	G	5: 30,321,972 (GRCm39)	L777R	probably damaging	Het
Garin5b	T	A	7: 4,761,186 (GRCm39)	T509S	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gpr143	T	A	X: 151,573,566 (GRCm39)	V181E	probably damaging	Het
Gtf2f1	T	C	17: 57,310,462 (GRCm39)	I498V	probably null	Het
Ipo4	A	G	14: 55,871,557 (GRCm39)	L168P	probably damaging	Het
Ism1	T	A	2: 139,599,293 (GRCm39)	I415N	probably damaging	Het
Lipa	T	A	19: 34,488,290 (GRCm39)	R119*	probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mre11a	A	G	9: 14,726,470 (GRCm39)	E411G	probably benign	Het
Mybpc1	C	A	10: 88,387,269 (GRCm39)	V106F	probably benign	Het
Myo5b	G	T	18: 74,866,996 (GRCm39)	L1382F	probably damaging	Het
N4bp3	A	T	11: 51,535,132 (GRCm39)	N352K	probably benign	Het
Ncbp2	T	C	16: 31,775,769 (GRCm39)	Y138H	probably damaging	Het
Ncor2	A	G	5: 125,115,019 (GRCm39)	V515A	probably benign	Het
Ndufv1	C	A	19: 4,058,347 (GRCm39)	R359L	probably benign	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Or11g25	G	T	14: 50,723,494 (GRCm39)	C193F	probably damaging	Het
Or8b12i	T	A	9: 20,082,705 (GRCm39)	H54L	possibly damaging	Het
Pes1	C	A	11: 3,919,524 (GRCm39)	L66I	probably damaging	Het
Phf12	G	T	11: 77,875,001 (GRCm39)	A76S	possibly damaging	Het
Plb1	G	T	5: 32,450,586 (GRCm39)	D376Y	probably damaging	Het
Prkdc	A	G	16: 15,472,681 (GRCm39)		probably null	Het
Prkg1	A	G	19: 30,556,031 (GRCm39)	V610A	probably benign	Het
Prrc2a	T	C	17: 35,368,512 (GRCm39)	T2104A	possibly damaging	Het
Rab3gap2	T	A	1: 185,015,739 (GRCm39)		probably null	Het
Ranbp2	T	C	10: 58,291,749 (GRCm39)	V252A	probably benign	Het
Rcn3	A	G	7: 44,738,075 (GRCm39)	S98P	probably damaging	Het
Rere	T	C	4: 150,561,837 (GRCm39)	S248P	unknown	Het
Rnaseh2a	T	C	8: 85,692,048 (GRCm39)	E75G	probably benign	Het
Slc15a1	A	T	14: 121,717,406 (GRCm39)	M292K	probably damaging	Het
Slc1a2	T	G	2: 102,566,339 (GRCm39)	L14R	probably damaging	Het
Slfn2	C	T	11: 82,960,761 (GRCm39)	R247C	probably damaging	Het
Ttn	T	C	2: 76,778,708 (GRCm39)	I1218M	probably damaging	Het
Usp7	T	C	16: 8,516,333 (GRCm39)	S649G	probably benign	Het
Yme1l1	T	C	2: 23,065,232 (GRCm39)	I247T	possibly damaging	Het
Zc3h13	T	C	14: 75,569,587 (GRCm39)	M1478T	probably benign	Het
Zfp444	T	C	7: 6,192,554 (GRCm39)	C191R	probably damaging	Het
Zfp729b	A	T	13: 67,740,352 (GRCm39)	C648S	probably damaging	Het
Znhit2	A	G	19: 6,111,261 (GRCm39)	E2G	probably damaging	Het
Zpbp	A	T	11: 11,368,272 (GRCm39)	M133K	probably benign	Het

Other mutations in Olfm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00532:Olfm4	APN	14	80,258,583 (GRCm39)	missense	probably benign	0.12
IGL01108:Olfm4	APN	14	80,259,339 (GRCm39)	missense	probably benign	0.15
IGL01599:Olfm4	APN	14	80,258,750 (GRCm39)	missense	probably damaging	1.00
IGL01872:Olfm4	APN	14	80,259,368 (GRCm39)	makesense	probably null
IGL01928:Olfm4	APN	14	80,249,392 (GRCm39)	missense	possibly damaging	0.71
IGL02333:Olfm4	APN	14	80,259,210 (GRCm39)	missense	probably damaging	1.00
IGL02336:Olfm4	APN	14	80,243,761 (GRCm39)	missense	probably damaging	1.00
IGL02811:Olfm4	APN	14	80,259,113 (GRCm39)	missense	probably damaging	1.00
PIT4651001:Olfm4	UTSW	14	80,258,925 (GRCm39)	missense	probably benign	0.00
R1428:Olfm4	UTSW	14	80,258,843 (GRCm39)	missense	probably damaging	1.00
R1649:Olfm4	UTSW	14	80,249,422 (GRCm39)	missense	probably damaging	0.98
R2139:Olfm4	UTSW	14	80,251,755 (GRCm39)	missense	probably benign	0.00
R2401:Olfm4	UTSW	14	80,259,192 (GRCm39)	missense	probably damaging	1.00
R4527:Olfm4	UTSW	14	80,258,664 (GRCm39)	missense	probably benign	0.13
R4649:Olfm4	UTSW	14	80,258,747 (GRCm39)	missense	probably benign	0.00
R5232:Olfm4	UTSW	14	80,259,122 (GRCm39)	missense	probably damaging	1.00
R5512:Olfm4	UTSW	14	80,258,787 (GRCm39)	missense	probably benign	0.32
R6198:Olfm4	UTSW	14	80,237,813 (GRCm39)	missense	probably benign	0.18
R6642:Olfm4	UTSW	14	80,259,107 (GRCm39)	missense	probably damaging	1.00
R6828:Olfm4	UTSW	14	80,258,973 (GRCm39)	missense	probably damaging	1.00
R6916:Olfm4	UTSW	14	80,251,638 (GRCm39)	missense	probably damaging	0.97
R6960:Olfm4	UTSW	14	80,258,754 (GRCm39)	missense	probably damaging	0.97
R7329:Olfm4	UTSW	14	80,249,369 (GRCm39)	missense	possibly damaging	0.79
R7971:Olfm4	UTSW	14	80,259,240 (GRCm39)	missense	probably damaging	0.98
R8872:Olfm4	UTSW	14	80,258,943 (GRCm39)	missense	probably damaging	1.00
R9008:Olfm4	UTSW	14	80,255,607 (GRCm39)	missense	unknown
R9398:Olfm4	UTSW	14	80,249,249 (GRCm39)	missense	probably benign	0.12
R9599:Olfm4	UTSW	14	80,243,747 (GRCm39)	missense	probably damaging	1.00
R9600:Olfm4	UTSW	14	80,243,747 (GRCm39)	missense	probably damaging	1.00
R9784:Olfm4	UTSW	14	80,249,348 (GRCm39)	missense	probably damaging	0.99
Z1176:Olfm4	UTSW	14	80,258,659 (GRCm39)	missense	probably benign	0.39
Z1177:Olfm4	UTSW	14	80,237,892 (GRCm39)	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- CTTCACATCTTTCGTAGTAGAGGAAG -3'
(R):5'- ATAGCCCATCCAGGTCAAGG -3'

Sequencing Primer
(F):5'- GAGGAAGTCTACCTGATATCACTCTG -3'
(R):5'- GTCCTGGAAAACTCTCTGTAGGC -3'

Posted On

2014-10-16