Mutagenetix > Incidental Mutation

Incidental Mutation 'R1223:Osr1'

152811

Institutional Source

Beutler Lab

Gene Symbol

Osr1

Ensembl Gene

ENSMUSG00000048387

Gene Name

odd-skipped related transcription factor 1

Synonyms

Odd1

MMRRC Submission

039292-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.788) question?

Stock #

R1223 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9624442-9631500 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 9629699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 191 (L191F)

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: L191F

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

SMART Domains

Protein: ENSMUSP00000055486
Gene: ENSMUSG00000048387
AA Change: L191F

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.3%

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
Adcy9	A	T	16: 4,116,612 (GRCm39)	V873E	probably damaging	Het
Arl10	A	G	13: 54,726,744 (GRCm39)	D174G	probably damaging	Het
Cd180	A	T	13: 102,842,730 (GRCm39)	Y592F	possibly damaging	Het
Ces3a	A	T	8: 105,784,661 (GRCm39)	T548S	probably benign	Het
Chd2	T	C	7: 73,134,265 (GRCm39)	E694G	probably damaging	Het
Commd3	T	C	2: 18,679,779 (GRCm39)	Y163H	probably benign	Het
Cyp8b1	A	G	9: 121,744,070 (GRCm39)	S421P	possibly damaging	Het
Cysltr2	A	T	14: 73,267,539 (GRCm39)	V57E	probably damaging	Het
Ddx47	G	A	6: 134,989,277 (GRCm39)	V34I	possibly damaging	Het
Dgkz	T	C	2: 91,769,660 (GRCm39)		probably benign	Het
Dsg2	G	T	18: 20,706,550 (GRCm39)	C22F	probably benign	Het
Gbp10	A	C	5: 105,366,867 (GRCm39)	V455G	probably damaging	Het
Gm12185	T	A	11: 48,798,103 (GRCm39)	I797F	probably damaging	Het
Katnip	T	A	7: 125,359,595 (GRCm39)	V62E	possibly damaging	Het
Lrrk2	A	G	15: 91,557,838 (GRCm39)	E58G	probably benign	Het
Mrgprb1	A	G	7: 48,097,435 (GRCm39)	V159A	possibly damaging	Het
Mybphl	A	G	3: 108,282,512 (GRCm39)	T182A	possibly damaging	Het
Or52e7	A	T	7: 104,684,773 (GRCm39)	I123F	probably benign	Het
Or9m1	G	A	2: 87,733,163 (GRCm39)	P286S	probably damaging	Het
Pip4k2b	G	A	11: 97,609,720 (GRCm39)	R406C	probably damaging	Het
Plce1	C	T	19: 38,690,457 (GRCm39)	L714F	probably damaging	Het
Plce1	T	C	19: 38,755,670 (GRCm39)	F1886S	probably damaging	Het
Ppp1cc	A	G	5: 122,306,277 (GRCm39)	E32G	probably damaging	Het
Rnh1	A	G	7: 140,743,120 (GRCm39)	L260P	probably damaging	Het
Serpinb3a	T	A	1: 106,975,282 (GRCm39)	N175I	probably damaging	Het
Sptbn5	T	A	2: 119,902,525 (GRCm39)	I68F	probably damaging	Het
Tas1r2	A	T	4: 139,387,515 (GRCm39)	T325S	probably damaging	Het
Tcirg1	T	C	19: 3,948,733 (GRCm39)	N484S	probably benign	Het
Tenm3	A	T	8: 48,693,431 (GRCm39)	M1833K	possibly damaging	Het
Thoc5	A	G	11: 4,871,922 (GRCm39)	E449G	probably benign	Het
Usp34	A	G	11: 23,396,464 (GRCm39)		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- CAAGCCTCGCTTTGATTTCGCTAAC -3'
(R):5'- GGAATGCTTACAGCCACTGGAGAC -3'

Sequencing Primer
(F):5'- TTGGCTGCCACACAAGAG -3'
(R):5'- TACAGCCACTGGAGACTCTTG -3'

Posted On

2014-01-29