Incidental Mutation 'IGL01508:Osr1'
ID 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
Is this an essential gene? Possibly essential (E-score: 0.746) question?
Stock # IGL01508
Quality Score
Status
Chromosome 12
Chromosomal Location 9570116-9581500 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9579370 bp (GRCm38)
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,659,367 R732* probably null Het
Adarb2 C A 13: 8,752,570 probably null Het
Alb C T 5: 90,470,838 A430V probably benign Het
Cdhr3 A T 12: 33,053,428 F397I possibly damaging Het
Cmya5 A G 13: 93,094,027 S1518P probably benign Het
Col6a4 T A 9: 106,013,605 Y1830F possibly damaging Het
Col6a6 A G 9: 105,727,166 probably benign Het
Dnah7a T C 1: 53,627,072 S599G probably benign Het
Fbxo3 A T 2: 104,033,676 H92L probably benign Het
Ffar2 T C 7: 30,819,176 D313G probably benign Het
Fnta T C 8: 26,007,266 E185G probably damaging Het
Gdap2 C T 3: 100,170,927 T69I possibly damaging Het
Gimap7 A T 6: 48,724,296 N272I probably damaging Het
Gin1 T C 1: 97,777,437 V84A probably benign Het
Itga8 A G 2: 12,232,802 L369P possibly damaging Het
Itgax C T 7: 128,144,818 T891I probably damaging Het
Lama1 T A 17: 67,809,361 probably benign Het
Lkaaear1 T C 2: 181,697,037 T169A probably benign Het
Nckap5 A G 1: 126,025,572 V1017A probably damaging Het
Nemf A C 12: 69,344,986 probably benign Het
Pate4 A T 9: 35,608,306 C29* probably null Het
Prkce C T 17: 86,630,085 R649C probably damaging Het
Ptpn5 A G 7: 47,091,555 V14A probably benign Het
Rnf166 C A 8: 122,470,342 C57F probably damaging Het
Tenm3 A G 8: 48,276,645 I1426T probably benign Het
Trpm6 C T 19: 18,796,530 Q424* probably null Het
Ttc27 T A 17: 74,835,357 S606T probably damaging Het
Tyrp1 T C 4: 80,840,765 S292P possibly damaging Het
Wdr70 A G 15: 8,079,263 V133A probably benign Het
Wdr78 G A 4: 103,072,687 P369L possibly damaging Het
Ylpm1 T C 12: 85,015,455 F252S possibly damaging Het
Other mutations in Osr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Osr1 APN 12 9579432 missense probably benign 0.00
IGL02583:Osr1 APN 12 9579675 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 2013-12-03