Incidental Mutation 'IGL01483:Prr23a1'
ID88685
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prr23a1
Ensembl Gene ENSMUSG00000091080
Gene Nameproline rich 23A, member 1
SynonymsGm6400, Prr23a
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock #IGL01483
Quality Score
Status
Chromosome9
Chromosomal Location98842503-98843385 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 98843316 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 244 (S244A)
Ref Sequence ENSEMBL: ENSMUSP00000127711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170349]
Predicted Effect probably benign
Transcript: ENSMUST00000170349
AA Change: S244A

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000127711
Gene: ENSMUSG00000091080
AA Change: S244A

DomainStartEndE-ValueType
Pfam:DUF2476 2 255 2.6e-96 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008E08Rik G T 16: 90,554,313 noncoding transcript Het
2410089E03Rik T G 15: 8,187,107 I603S probably damaging Het
Abcb4 T C 5: 8,927,871 I483T probably damaging Het
Ank3 A T 10: 69,874,809 H388L probably damaging Het
Arhgap24 T C 5: 102,860,377 Y52H possibly damaging Het
Atf7ip A G 6: 136,587,459 N900S probably damaging Het
Bmp10 A T 6: 87,433,951 D242V probably damaging Het
Ceacam12 A G 7: 18,067,521 R142G probably benign Het
Cilp2 T A 8: 69,882,846 I501F probably damaging Het
Dglucy T C 12: 100,853,217 V426A probably damaging Het
Dyrk1b A G 7: 28,182,676 D94G probably damaging Het
Erbb2 C T 11: 98,434,539 R898C probably damaging Het
Fbxo7 T C 10: 86,044,581 Y298H probably damaging Het
Gcg T C 2: 62,480,483 D25G possibly damaging Het
Gm11639 T C 11: 104,739,347 V968A probably benign Het
Helb A G 10: 120,111,138 V90A probably damaging Het
Krt40 T A 11: 99,542,727 E144D probably damaging Het
Lpo G A 11: 87,821,138 T31I probably benign Het
Mc5r A G 18: 68,339,244 I225V probably damaging Het
Mccc1 A G 3: 35,989,860 F245L probably damaging Het
Mindy4 A G 6: 55,216,685 D121G probably damaging Het
Nap1l4 A T 7: 143,527,316 probably null Het
Noc4l T A 5: 110,648,958 K486M probably damaging Het
Notum T C 11: 120,656,656 D271G probably damaging Het
Pan3 T A 5: 147,529,973 L550Q probably benign Het
Pde4dip A G 3: 97,754,149 S594P probably damaging Het
Pramef8 A T 4: 143,417,477 E131V probably damaging Het
Rarb T C 14: 16,432,273 probably benign Het
Sh3d19 A G 3: 86,114,796 D511G probably benign Het
Slco6c1 T C 1: 97,128,107 N23S probably benign Het
Smarcc1 G T 9: 110,222,060 G983* probably null Het
Tbc1d22a A T 15: 86,391,203 Q442L probably benign Het
Tuba1b A G 15: 98,932,457 Y161H possibly damaging Het
Zdhhc14 G A 17: 5,712,458 M212I probably benign Het
Other mutations in Prr23a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1677:Prr23a1 UTSW 9 98843353 missense probably benign 0.06
R2105:Prr23a1 UTSW 9 98842656 missense probably damaging 0.99
R6854:Prr23a1 UTSW 9 98842935 missense possibly damaging 0.91
R7524:Prr23a1 UTSW 9 98842864 missense probably damaging 1.00
Z1088:Prr23a1 UTSW 9 98843347 missense possibly damaging 0.71
Posted On2013-11-18