Mutagenetix > Incidental Mutation

Incidental Mutation 'R0077:Osr1'

19501

Institutional Source

Beutler Lab

Gene Symbol

Osr1

Ensembl Gene

ENSMUSG00000048387

Gene Name

odd-skipped related transcription factor 1

Synonyms

Odd1

MMRRC Submission

038364-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.774) question?

Stock #

R0077 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9624442-9631500 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9629691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 188 (Y188F)

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: Y188F

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

SMART Domains

Protein: ENSMUSP00000055486
Gene: ENSMUSG00000048387
AA Change: Y188F

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

Meta Mutation Damage Score

0.3758

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.4%
20x: 90.5%

Validation Efficiency

83% (159/192)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	C	5: 81,919,532 (GRCm39)		probably benign	Het
Adgrl4	A	G	3: 151,223,418 (GRCm39)	I624V	probably damaging	Het
AI661453	A	G	17: 47,780,287 (GRCm39)		probably benign	Het
Alg12	C	T	15: 88,700,181 (GRCm39)	E60K	probably damaging	Het
Angel2	A	T	1: 190,665,284 (GRCm39)	N72Y	possibly damaging	Het
Ank1	C	A	8: 23,630,183 (GRCm39)	P81Q	probably damaging	Het
Atp6v1c2	A	T	12: 17,371,613 (GRCm39)	D61E	probably damaging	Het
Bpi	T	A	2: 158,103,254 (GRCm39)	M83K	probably damaging	Het
Capn7	A	G	14: 31,090,072 (GRCm39)	I642V	probably benign	Het
Ccdc134	T	C	15: 82,015,938 (GRCm39)		probably benign	Het
Ccr3	C	T	9: 123,829,061 (GRCm39)	T132I	probably damaging	Het
Cfap65	C	A	1: 74,971,077 (GRCm39)	W80C	probably damaging	Het
Chaf1a	T	A	17: 56,354,384 (GRCm39)	I218K	unknown	Het
Ddx23	A	G	15: 98,554,481 (GRCm39)		probably null	Het
Dmkn	A	G	7: 30,464,719 (GRCm39)	S231G	probably benign	Het
Ep300	T	C	15: 81,525,514 (GRCm39)	I1446T	unknown	Het
Fmnl1	T	C	11: 103,080,795 (GRCm39)	F318S	probably damaging	Het
Grik5	A	T	7: 24,722,805 (GRCm39)	V497E	probably damaging	Het
Gtf2ird2	T	C	5: 134,242,925 (GRCm39)	Y380H	probably damaging	Het
Hecw2	C	T	1: 53,907,990 (GRCm39)		probably benign	Het
Hspb7	A	G	4: 141,151,358 (GRCm39)	I167V	probably damaging	Het
Kcnh2	T	A	5: 24,527,700 (GRCm39)	N884I	probably benign	Het
Krba1	T	C	6: 48,382,159 (GRCm39)		probably benign	Het
Krt18	G	T	15: 101,939,409 (GRCm39)	R294L	probably benign	Het
Lctl	T	A	9: 64,029,389 (GRCm39)	M1K	probably null	Het
Lingo2	G	A	4: 35,708,375 (GRCm39)	S535F	possibly damaging	Het
Lrba	A	C	3: 86,449,995 (GRCm39)	N2105H	probably damaging	Het
Lrrc10	A	G	10: 116,881,419 (GRCm39)	D31G	probably damaging	Het
Lrrtm1	T	A	6: 77,220,855 (GRCm39)	V104E	probably damaging	Het
Mgat3	C	T	15: 80,096,778 (GRCm39)	T535I	probably benign	Het
Nav3	T	C	10: 109,552,503 (GRCm39)	I1780V	possibly damaging	Het
Nlrc4	A	G	17: 74,753,826 (GRCm39)	W186R	probably damaging	Het
Nr2c1	T	A	10: 94,024,117 (GRCm39)	F441I	probably benign	Het
Obscn	A	G	11: 58,942,347 (GRCm39)		probably benign	Het
Or1p1	T	C	11: 74,179,501 (GRCm39)	F10L	probably benign	Het
Or2a56	T	C	6: 42,932,707 (GRCm39)	S92P	probably benign	Het
Or56b34	T	C	7: 104,937,726 (GRCm39)	V142A	probably damaging	Het
Or5au1	T	C	14: 52,273,442 (GRCm39)	N42S	possibly damaging	Het
Pak2	A	T	16: 31,852,661 (GRCm39)	N293K	possibly damaging	Het
Pappa	A	T	4: 65,226,049 (GRCm39)	T1301S	probably damaging	Het
Pde4dip	G	A	3: 97,660,442 (GRCm39)	Q679*	probably null	Het
Pik3r5	T	A	11: 68,377,448 (GRCm39)		probably null	Het
Plbd2	C	T	5: 120,624,104 (GRCm39)		probably null	Het
Ppp1r3a	G	T	6: 14,754,516 (GRCm39)	P244T	possibly damaging	Het
Pum1	C	A	4: 130,499,985 (GRCm39)	R960S	probably benign	Het
Ralgapb	T	C	2: 158,315,169 (GRCm39)	Y845H	probably damaging	Het
Rbms1	A	T	2: 60,589,179 (GRCm39)	M287K	possibly damaging	Het
Rdh1	A	T	10: 127,595,906 (GRCm39)	I34F	probably damaging	Het
Rgl3	T	A	9: 21,885,398 (GRCm39)	Q644L	probably benign	Het
Rpap2	T	C	5: 107,768,340 (GRCm39)	S393P	probably damaging	Het
Rsad2	T	C	12: 26,506,376 (GRCm39)	S15G	probably damaging	Het
Rspo1	G	A	4: 124,885,190 (GRCm39)	R22Q	probably benign	Het
S100a11	A	C	3: 93,431,509 (GRCm39)		probably null	Het
Septin4	T	C	11: 87,472,022 (GRCm39)	S11P	probably benign	Het
Serpina1c	T	C	12: 103,862,350 (GRCm39)	S322G	probably benign	Het
Setdb1	A	T	3: 95,248,762 (GRCm39)	C385S	probably damaging	Het
Shank2	A	T	7: 143,746,204 (GRCm39)	I193F	possibly damaging	Het
Slc4a11	G	T	2: 130,528,221 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Tbcd	C	A	11: 121,485,100 (GRCm39)	Q761K	probably benign	Het
Tmed6	C	T	8: 107,792,198 (GRCm39)	V16M	probably damaging	Het
Tmem229a	T	C	6: 24,955,701 (GRCm39)	T18A	probably benign	Het
Tsc1	T	A	2: 28,568,955 (GRCm39)		probably benign	Het
Ube2m	T	C	7: 12,769,657 (GRCm39)	N49D	probably damaging	Het
Ubqlnl	T	C	7: 103,799,254 (GRCm39)	D81G	probably damaging	Het
Vmn2r56	A	G	7: 12,449,332 (GRCm39)	V302A	probably benign	Het
Vmn2r73	T	A	7: 85,525,075 (GRCm39)	R24S	probably benign	Het
Wfs1	C	A	5: 37,130,538 (GRCm39)	S236I	probably damaging	Het
Xpot	A	T	10: 121,441,544 (GRCm39)	N560K	probably benign	Het
Yipf3	A	G	17: 46,562,503 (GRCm39)	T303A	probably benign	Het
Zfp790	T	C	7: 29,524,300 (GRCm39)	W19R	probably damaging	Het
Zfp846	T	C	9: 20,505,303 (GRCm39)	C388R	probably benign	Het
Zpr1	T	A	9: 46,184,634 (GRCm39)	I47N	probably 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
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
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

Predicted Primers

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

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

Posted On

2013-04-11