Mutagenetix > Incidental Mutations

Incidental Mutation 'R4335:Omd'

323749

Institutional Source

Beutler Lab

Gene Symbol

Omd

Ensembl Gene

ENSMUSG00000048368

Gene Name

osteomodulin

Synonyms

osteoadherin, OSAD, SLRR2C

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R4335 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49582462-49592822 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 49590236 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 254 (D254A)

Ref Sequence

ENSEMBL: ENSMUSP00000152066 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021818] [ENSMUST00000065494] [ENSMUST00000221170]

Predicted Effect

probably benign
Transcript: ENSMUST00000021818

SMART Domains

Protein: ENSMUSP00000021818
Gene: ENSMUSG00000021391

Domain	Start	End	E-Value	Type
coiled coil region	1	34	N/A	INTRINSIC
Pfam:CENP-P	102	278	3.9e-89	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000065494
AA Change: D254A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000065706
Gene: ENSMUSG00000048368
AA Change: D254A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LRRNT	61	95	3.14e-11	SMART
LRR	115	139	2.15e2	SMART
LRR	140	160	2.2e1	SMART
LRR	162	184	4.21e1	SMART
LRR	185	210	1.01e2	SMART
LRR	211	234	6.96e0	SMART
LRR	235	255	8.49e1	SMART
LRR	256	279	1.76e-1	SMART
LRR	300	322	7.8e1	SMART
Blast:LRR	330	353	6e-8	BLAST
low complexity region	385	391	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000221170
AA Change: D254A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221751

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in impaired cued contextual conditioning behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,544,370	L710P	probably damaging	Het
Abca9	G	A	11: 110,152,017	T402M	probably damaging	Het
Apbb1ip	G	A	2: 22,871,562		probably null	Het
Armh1	A	T	4: 117,214,463	I308N	probably damaging	Het
Ceacam5	G	A	7: 17,752,129	R517Q	probably benign	Het
Clic4	C	T	4: 135,218,605	S167N	probably benign	Het
Ehbp1l1	A	T	19: 5,708,769	L1644Q	probably damaging	Het
Erh	A	G	12: 80,642,841	L3P	probably benign	Het
Fam71d	T	C	12: 78,712,232	S109P	possibly damaging	Het
Fbxw7	T	C	3: 84,972,495	C375R	probably damaging	Het
Fhdc1	C	A	3: 84,444,826	V1031F	probably benign	Het
Fsd2	A	T	7: 81,542,065	S521R	probably damaging	Het
Hace1	A	G	10: 45,709,961	Y865C	probably damaging	Het
Iqcf1	G	A	9: 106,501,873	R62H	possibly damaging	Het
Kcnv1	G	A	15: 45,114,444	T66M	probably damaging	Het
Leng8	T	C	7: 4,147,038	Y781H	probably damaging	Het
Med8	G	T	4: 118,409,370		probably null	Het
Myo19	G	A	11: 84,908,288	A816T	probably benign	Het
Nat8f2	A	G	6: 85,868,251	L43P	probably damaging	Het
Psd2	G	T	18: 36,007,530	A622S	probably damaging	Het
Rnf207	G	A	4: 152,315,605		probably benign	Het
Rsbn1l	T	C	5: 20,908,193	I444V	probably null	Het
Rxfp1	A	G	3: 79,686,798		probably null	Het
Selenot	C	A	3: 58,585,301	R70S	possibly damaging	Het
Sox6	A	G	7: 115,512,724	S557P	probably benign	Het
Sp9	G	A	2: 73,274,289	V396M	probably damaging	Het
Ston1	T	C	17: 88,635,697	F177S	probably damaging	Het
Syne2	A	G	12: 76,028,092	E4602G	probably damaging	Het
Tbc1d19	A	G	5: 53,872,277	T327A	possibly damaging	Het
Tsga13	T	C	6: 30,900,045	D179G	probably damaging	Het
Wdr27	T	A	17: 14,920,756		probably null	Het

Other mutations in Omd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01976:Omd	APN	13	49589643	nonsense	probably null
IGL01982:Omd	APN	13	49589497	missense	possibly damaging	0.88
IGL02678:Omd	APN	13	49592281	missense	probably benign	0.37
IGL03069:Omd	APN	13	49592394	utr 3 prime	probably benign
R1036:Omd	UTSW	13	49589971	missense	probably damaging	1.00
R3954:Omd	UTSW	13	49589737	missense	probably benign	0.00
R4030:Omd	UTSW	13	49589649	missense	probably benign	0.08
R5095:Omd	UTSW	13	49589698	missense	possibly damaging	0.95
R5137:Omd	UTSW	13	49590076	missense	probably benign	0.05
R5400:Omd	UTSW	13	49592227	missense	probably benign	0.37
R5596:Omd	UTSW	13	49592338	missense	probably benign	0.16
R5930:Omd	UTSW	13	49589636	missense	possibly damaging	0.63
R6132:Omd	UTSW	13	49590367	missense	probably damaging	0.97
R6294:Omd	UTSW	13	49589991	missense	probably damaging	1.00
R6454:Omd	UTSW	13	49589869	missense	probably damaging	0.99
R6680:Omd	UTSW	13	49589528	missense	possibly damaging	0.74
R6704:Omd	UTSW	13	49589873	missense	probably damaging	1.00
R6932:Omd	UTSW	13	49590234	missense	probably damaging	1.00
R7427:Omd	UTSW	13	49592269	missense	possibly damaging	0.68
R7884:Omd	UTSW	13	49590154	missense	probably damaging	1.00
R7971:Omd	UTSW	13	49590254	missense	probably benign	0.00
R8129:Omd	UTSW	13	49592089	missense	probably damaging	0.99
R8399:Omd	UTSW	13	49589869	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- TGACTATGCTTGACCTCTGC -3'
(R):5'- CCATTCTTTCATCAGACATGTTGG -3'

Sequencing Primer
(F):5'- GACTATGCTTGACCTCTGCTATAATC -3'
(R):5'- GTGTCCAACGTTGAGTTCTA -3'

Posted On

2015-06-24