Mutagenetix > Incidental Mutation

Incidental Mutation 'R4347:Olfml1'

328370

Institutional Source

Beutler Lab

Gene Symbol

Olfml1

Ensembl Gene

ENSMUSG00000051041

Gene Name

olfactomedin-like 1

Synonyms

ONT2, mONT2, MVAL564

MMRRC Submission

041102-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R4347 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107567446-107591094 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 107567833 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 23 (P23L)

Ref Sequence

ENSEMBL: ENSMUSP00000114029 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120990]

AlphaFold

Q8BSH2

Predicted Effect

probably benign
Transcript: ENSMUST00000120990
AA Change: P23L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000114029
Gene: ENSMUSG00000051041
AA Change: P23L

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
coiled coil region	78	105	N/A	INTRINSIC
low complexity region	115	132	N/A	INTRINSIC
Pfam:OLF	145	233	5.5e-19	PFAM

Meta Mutation Damage Score

0.1139

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	C	T	11: 3,890,122	V92M	probably damaging	Het
4930503E14Rik	C	A	14: 44,171,178	R66S	probably damaging	Het
Abca5	A	T	11: 110,299,968	I772N	probably damaging	Het
Acox1	T	C	11: 116,198,661	N15S	probably benign	Het
Arhgap28	C	T	17: 67,873,142	V233I	probably benign	Het
Chil4	T	C	3: 106,202,828	I317V	probably benign	Het
Dvl3	G	A	16: 20,531,299	R645H	possibly damaging	Het
Efl1	A	T	7: 82,697,966	M567L	probably damaging	Het
Gal3st2b	C	T	1: 93,939,808	T59I	probably damaging	Het
Gm7135	T	A	1: 97,348,310		noncoding transcript	Het
Gpihbp1	T	G	15: 75,598,168	*124G	probably null	Het
Igkv10-96	T	A	6: 68,632,180	R44W	probably benign	Het
Igkv13-84	T	A	6: 68,939,776	I19K	probably benign	Het
Kcnab1	A	G	3: 65,297,475		probably benign	Het
Kif1b	C	A	4: 149,247,234	G545C	probably damaging	Het
Mprip	T	C	11: 59,759,453	S1328P	possibly damaging	Het
Nrp1	T	C	8: 128,480,991		probably null	Het
Plekhh2	G	A	17: 84,619,702	A1457T	probably benign	Het
Prr27	A	G	5: 87,842,672	I40V	possibly damaging	Het
Slc25a54	A	G	3: 109,102,739	T185A	possibly damaging	Het
Srek1	C	T	13: 103,748,759	G396D	probably null	Het
Syvn1	C	T	19: 6,049,921		probably benign	Het
Trim3	C	T	7: 105,619,387	G120D	probably damaging	Het
Usp5	T	A	6: 124,821,195	Q409L	probably damaging	Het
Vim	T	G	2: 13,575,518		probably benign	Het

Other mutations in Olfml1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01285:Olfml1	APN	7	107590157	missense	possibly damaging	0.80
IGL02355:Olfml1	APN	7	107567803	missense	probably benign	0.00
IGL02362:Olfml1	APN	7	107567803	missense	probably benign	0.00
IGL03218:Olfml1	APN	7	107571269	missense	possibly damaging	0.87
IGL03291:Olfml1	APN	7	107590229	missense	probably damaging	1.00
R0041:Olfml1	UTSW	7	107590186	missense	possibly damaging	0.81
R0041:Olfml1	UTSW	7	107590186	missense	possibly damaging	0.81
R0081:Olfml1	UTSW	7	107571299	missense	probably benign	0.08
R0524:Olfml1	UTSW	7	107590177	missense	probably damaging	1.00
R1311:Olfml1	UTSW	7	107567896	critical splice donor site	probably null
R1548:Olfml1	UTSW	7	107590375	missense	possibly damaging	0.88
R1564:Olfml1	UTSW	7	107571139	missense	possibly damaging	0.89
R4997:Olfml1	UTSW	7	107571206	missense	probably damaging	1.00
R6788:Olfml1	UTSW	7	107567868	missense	probably damaging	1.00
R7282:Olfml1	UTSW	7	107590323	missense	possibly damaging	0.85
R7703:Olfml1	UTSW	7	107571185	missense	probably damaging	1.00
R7922:Olfml1	UTSW	7	107571149	missense	probably damaging	1.00
R8324:Olfml1	UTSW	7	107590363	missense	probably benign	0.04
R8441:Olfml1	UTSW	7	107567770	missense	probably benign	0.00
R9002:Olfml1	UTSW	7	107590216	missense	probably damaging	1.00
R9261:Olfml1	UTSW	7	107567800	missense	possibly damaging	0.88
R9797:Olfml1	UTSW	7	107567862	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- CTCTGGCTATGCAAAGCGTTG -3'
(R):5'- CTGCTAGGCTATGCACATCTG -3'

Sequencing Primer
(F):5'- GTTTTCCAAGGAATTGCCACAGC -3'
(R):5'- GCTAGGCTATGCACATCTGTAAATG -3'

Posted On

2015-07-07