Incidental Mutation 'IGL02583:Osr1'
ID 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 12
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

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 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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