Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02583:Osr1'

299421

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

Is this an essential gene?

Possibly essential (E-score: 0.746) question?

Stock #

IGL02583

Quality Score

Status

Chromosome

Chromosomal Location

9570116-9581500 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 9579675 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 183 (H183Y)

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: H183Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055486
Gene: ENSMUSG00000048387
AA Change: H183Y

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	C	T	5: 26,479,719		noncoding transcript	Het
A430005L14Rik	T	A	4: 153,960,935	D140E	possibly damaging	Het
Bod1l	C	T	5: 41,816,207		probably null	Het
Brms1	T	A	19: 5,046,178	V61D	probably damaging	Het
Card11	A	T	5: 140,878,126	N952K	probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Col15a1	T	C	4: 47,279,866	V697A	probably benign	Het
Col7a1	A	T	9: 108,962,229	I1118F	unknown	Het
Cyfip2	T	C	11: 46,249,758	E746G	possibly damaging	Het
Dach1	A	G	14: 97,828,394		probably benign	Het
Dock11	G	T	X: 36,006,717	G1023W	possibly damaging	Het
Fbxo10	T	C	4: 45,044,754	D453G	probably damaging	Het
Fhad1	T	C	4: 142,011,644		probably benign	Het
Gm17415	A	G	1: 93,422,079		probably benign	Het
Gm4781	A	T	10: 100,396,645		noncoding transcript	Het
Gpatch2	A	C	1: 187,233,317		probably null	Het
Gpatch2	G	T	1: 187,233,318		probably null	Het
Greb1	A	G	12: 16,706,295		probably benign	Het
Greb1l	A	G	18: 10,542,362	Y1319C	probably damaging	Het
Ice1	C	T	13: 70,605,735	R744H	possibly damaging	Het
Kcnq2	T	A	2: 181,081,502	S694C	probably benign	Het
Krt35	C	A	11: 100,092,534	V448L	possibly damaging	Het
Lexm	A	T	4: 106,611,405		probably benign	Het
Lmo7	A	G	14: 101,933,924		probably benign	Het
Megf8	T	C	7: 25,355,793	S1984P	probably benign	Het
Nlrp1a	T	C	11: 71,123,401	Q341R	probably benign	Het
Olfr575	T	C	7: 102,954,711	T297A	possibly damaging	Het
Olfr59	T	A	11: 74,289,504	L286Q	probably damaging	Het
Paf1	T	C	7: 28,396,171	V202A	probably damaging	Het
Pde10a	A	G	17: 8,981,630	K1071E	probably benign	Het
Pwp2	T	C	10: 78,181,083	R268G	probably benign	Het
Rwdd1	T	A	10: 34,001,673	K178*	probably null	Het
Scn10a	A	T	9: 119,691,440		probably benign	Het
Sema3g	A	G	14: 31,221,519		probably null	Het
Slc22a6	C	A	19: 8,623,616	A391E	possibly damaging	Het
Slc41a3	G	A	6: 90,644,171	G372S	probably damaging	Het
Sqor	G	T	2: 122,799,770	K3N	probably damaging	Het
Srl	T	C	16: 4,492,380	Q495R	possibly damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Stxbp3	G	T	3: 108,800,871	D371E	probably damaging	Het
Tnfrsf19	C	A	14: 61,024,210	V47F	probably damaging	Het
Usp11	A	T	X: 20,718,045	E622V	probably benign	Het
Vmn1r52	T	A	6: 90,179,144	Y143*	probably null	Het
Zfp280d	A	G	9: 72,322,445		probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zmat1	T	C	X: 134,973,272	T457A	probably damaging	Het

Other mutations in Osr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Osr1	APN	12	9579432	missense	probably benign	0.00
IGL01508:Osr1	APN	12	9579370	missense	probably damaging	1.00
R0077:Osr1	UTSW	12	9579691	missense	probably damaging	1.00
R0218:Osr1	UTSW	12	9579639	missense	probably benign	0.09
R1223:Osr1	UTSW	12	9579699	missense	probably damaging	1.00
R1568:Osr1	UTSW	12	9579798	splice site	probably null
R1924:Osr1	UTSW	12	9579268	missense	probably damaging	1.00
R1939:Osr1	UTSW	12	9579687	missense	probably damaging	1.00
R5580:Osr1	UTSW	12	9579325	missense	probably damaging	0.99
R7713:Osr1	UTSW	12	9579253	missense	probably damaging	1.00

Posted On

2015-04-16