Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00333:Osr1'

4441

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Osr1

Ensembl Gene

ENSMUSG00000048387

Gene Name

odd-skipped related transcription factor 1

Synonyms

Odd1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.788) question?

Stock #

IGL00333

Quality Score

Status

Chromosome

Chromosomal Location

9624442-9631500 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 9629432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 102 (I102L)

Ref Sequence

ENSEMBL: ENSMUSP00000151780 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057021] [ENSMUST00000217975]

AlphaFold

Q9WVG7

Predicted Effect

probably benign
Transcript: ENSMUST00000057021
AA Change: I102L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000055486
Gene: ENSMUSG00000048387
AA Change: I102L

Domain	Start	End	E-Value	Type
low complexity region	134	151	N/A	INTRINSIC
ZnF_C2H2	175	197	1.67e-2	SMART
ZnF_C2H2	203	225	2.4e-3	SMART
ZnF_C2H2	231	253	4.4e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000217975
AA Change: I102L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted mutation fail to form atrial septum and exhibit dilated atria with hypoplastic venous valves and blood backflow from the heart into systemic veins. Complete agenesis of adrenal glands, metanephric kidneys, gonads, and defects in pericardium formation are also observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atosa	T	C	9: 74,933,072 (GRCm39)	I1006T	probably benign	Het
Atp8b3	C	T	10: 80,366,821 (GRCm39)	C259Y	probably damaging	Het
Bag6	T	G	17: 35,363,627 (GRCm39)	D770E	probably damaging	Het
Ccdc8	T	A	7: 16,729,967 (GRCm39)	D485E	unknown	Het
Cyp2c54	A	C	19: 40,060,522 (GRCm39)	V153G	probably damaging	Het
Haus8	A	G	8: 71,708,289 (GRCm39)		probably null	Het
Hgf	A	T	5: 16,816,880 (GRCm39)	T499S	possibly damaging	Het
Ifitm1	T	A	7: 140,549,537 (GRCm39)	*107R	probably null	Het
Kcnq4	G	A	4: 120,555,213 (GRCm39)	Q657*	probably null	Het
Klk1b27	T	A	7: 43,705,567 (GRCm39)		probably null	Het
Lpin2	C	A	17: 71,550,967 (GRCm39)	T709K	probably damaging	Het
Lrig3	T	C	10: 125,849,017 (GRCm39)	L945P	probably benign	Het
Lrrn4	C	T	2: 132,712,737 (GRCm39)	C362Y	probably damaging	Het
Map3k20	T	C	2: 72,202,320 (GRCm39)	S184P	probably damaging	Het
Nr2f1	A	T	13: 78,337,952 (GRCm39)	V231E	probably damaging	Het
Or12d13	A	T	17: 37,647,474 (GRCm39)	Y216*	probably null	Het
Orc1	T	C	4: 108,452,522 (GRCm39)		probably benign	Het
Pcbd1	A	T	10: 60,927,949 (GRCm39)	Q37L	probably benign	Het
Pclo	C	T	5: 14,571,691 (GRCm39)	Q359*	probably null	Het
Rpgrip1	A	T	14: 52,387,895 (GRCm39)		probably null	Het
Sox4	C	A	13: 29,136,956 (GRCm39)	G17W	probably damaging	Het
Speer4a2	A	G	5: 26,291,491 (GRCm39)	M105T	possibly damaging	Het
Sspo	A	G	6: 48,447,387 (GRCm39)	T2184A	probably benign	Het
Synpo2	C	T	3: 122,906,859 (GRCm39)	G819D	probably damaging	Het
Taar8b	A	G	10: 23,967,654 (GRCm39)	V180A	possibly damaging	Het
Tbc1d8	T	C	1: 39,433,210 (GRCm39)	D324G	probably damaging	Het
Tcaf2	A	T	6: 42,606,970 (GRCm39)	L328*	probably null	Het
Tmem253	T	C	14: 52,255,418 (GRCm39)	L76P	probably damaging	Het
Tsc1	G	A	2: 28,551,623 (GRCm39)	V46I	probably damaging	Het
Ttn	A	T	2: 76,779,425 (GRCm39)	F1152I	probably benign	Het
Txnrd2	T	C	16: 18,257,101 (GRCm39)	V139A	probably damaging	Het
Ublcp1	T	C	11: 44,351,597 (GRCm39)	D212G	probably damaging	Het
Utrn	A	T	10: 12,547,574 (GRCm39)	L1622Q	probably damaging	Het
Vmn2r103	A	G	17: 20,013,364 (GRCm39)	T162A	probably damaging	Het

Other mutations in Osr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01508:Osr1	APN	12	9,629,370 (GRCm39)	missense	probably damaging	1.00
IGL02583:Osr1	APN	12	9,629,675 (GRCm39)	missense	probably damaging	1.00
R0077:Osr1	UTSW	12	9,629,691 (GRCm39)	missense	probably damaging	1.00
R0218:Osr1	UTSW	12	9,629,639 (GRCm39)	missense	probably benign	0.09
R1223:Osr1	UTSW	12	9,629,699 (GRCm39)	missense	probably damaging	1.00
R1568:Osr1	UTSW	12	9,629,798 (GRCm39)	splice site	probably null
R1924:Osr1	UTSW	12	9,629,268 (GRCm39)	missense	probably damaging	1.00
R1939:Osr1	UTSW	12	9,629,687 (GRCm39)	missense	probably damaging	1.00
R5580:Osr1	UTSW	12	9,629,325 (GRCm39)	missense	probably damaging	0.99
R7713:Osr1	UTSW	12	9,629,253 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20