Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01508:Osr1'

89116

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: 0.774) question?

Stock #

IGL01508

Quality Score

Status

Chromosome

Chromosomal Location

9624442-9631500 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9629370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 81 (D81G)

Ref Sequence

ENSEMBL: ENSMUSP00000055486 (fasta)

Gene Model

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

AlphaFold

Q9WVG7

Predicted Effect

probably damaging
Transcript: ENSMUST00000057021
AA Change: D81G

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

SMART Domains

Protein: ENSMUSP00000055486
Gene: ENSMUSG00000048387
AA Change: D81G

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 damaging
Transcript: ENSMUST00000217975
AA Change: D81G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,636,326 (GRCm39)	R732*	probably null	Het
Adarb2	C	A	13: 8,802,606 (GRCm39)		probably null	Het
Alb	C	T	5: 90,618,697 (GRCm39)	A430V	probably benign	Het
Cdhr3	A	T	12: 33,103,427 (GRCm39)	F397I	possibly damaging	Het
Cmya5	A	G	13: 93,230,535 (GRCm39)	S1518P	probably benign	Het
Col6a4	T	A	9: 105,890,804 (GRCm39)	Y1830F	possibly damaging	Het
Col6a6	A	G	9: 105,604,365 (GRCm39)		probably benign	Het
Dnah7a	T	C	1: 53,666,231 (GRCm39)	S599G	probably benign	Het
Dnai4	G	A	4: 102,929,884 (GRCm39)	P369L	possibly damaging	Het
Fbxo3	A	T	2: 103,864,021 (GRCm39)	H92L	probably benign	Het
Ffar2	T	C	7: 30,518,601 (GRCm39)	D313G	probably benign	Het
Fnta	T	C	8: 26,497,294 (GRCm39)	E185G	probably damaging	Het
Gdap2	C	T	3: 100,078,243 (GRCm39)	T69I	possibly damaging	Het
Gimap7	A	T	6: 48,701,230 (GRCm39)	N272I	probably damaging	Het
Gin1	T	C	1: 97,705,162 (GRCm39)	V84A	probably benign	Het
Itga8	A	G	2: 12,237,613 (GRCm39)	L369P	possibly damaging	Het
Itgax	C	T	7: 127,743,990 (GRCm39)	T891I	probably damaging	Het
Lama1	T	A	17: 68,116,356 (GRCm39)		probably benign	Het
Lkaaear1	T	C	2: 181,338,830 (GRCm39)	T169A	probably benign	Het
Nckap5	A	G	1: 125,953,309 (GRCm39)	V1017A	probably damaging	Het
Nemf	A	C	12: 69,391,760 (GRCm39)		probably benign	Het
Pate4	A	T	9: 35,519,602 (GRCm39)	C29*	probably null	Het
Prkce	C	T	17: 86,937,513 (GRCm39)	R649C	probably damaging	Het
Ptpn5	A	G	7: 46,741,303 (GRCm39)	V14A	probably benign	Het
Rnf166	C	A	8: 123,197,081 (GRCm39)	C57F	probably damaging	Het
Tenm3	A	G	8: 48,729,680 (GRCm39)	I1426T	probably benign	Het
Trpm6	C	T	19: 18,773,894 (GRCm39)	Q424*	probably null	Het
Ttc27	T	A	17: 75,142,352 (GRCm39)	S606T	probably damaging	Het
Tyrp1	T	C	4: 80,759,002 (GRCm39)	S292P	possibly damaging	Het
Wdr70	A	G	15: 8,108,747 (GRCm39)	V133A	probably benign	Het
Ylpm1	T	C	12: 85,062,229 (GRCm39)	F252S	possibly damaging	Het

Other mutations in Osr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Osr1	APN	12	9,629,432 (GRCm39)	missense	probably benign	0.00
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

2013-12-03