Incidental Mutation 'IGL00509:Gm15217'
ID 332529
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm15217
Ensembl Gene ENSMUSG00000079261
Gene Name predicted gene 15217
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # IGL00509
Quality Score
Status
Chromosome 14
Chromosomal Location 46616981-46621065 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 46620768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000098242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074077] [ENSMUST00000100676] [ENSMUST00000111826] [ENSMUST00000141358]
AlphaFold A2CG07
Predicted Effect probably benign
Transcript: ENSMUST00000074077
SMART Domains Protein: ENSMUSP00000073720
Gene: ENSMUSG00000021835

DomainStartEndE-ValueType
Pfam:TGFb_propeptide 13 276 1.7e-77 PFAM
TGFB 308 408 4.53e-67 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100676
SMART Domains Protein: ENSMUSP00000098242
Gene: ENSMUSG00000021835

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:TGFb_propeptide 39 276 3.7e-55 PFAM
TGFB 308 408 4.53e-67 SMART
Predicted Effect unknown
Transcript: ENSMUST00000111826
AA Change: S146P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135408
Predicted Effect unknown
Transcript: ENSMUST00000141358
AA Change: S63P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147092
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226759
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228667
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,391,102 (GRCm39) probably null Het
Abr A G 11: 76,313,915 (GRCm39) L514P probably damaging Het
Ahnak T A 19: 8,987,315 (GRCm39) D2866E possibly damaging Het
Bfsp1 T A 2: 143,673,812 (GRCm39) T293S probably damaging Het
Ccr1 C T 9: 123,764,090 (GRCm39) V147I probably benign Het
Cd84 T C 1: 171,679,704 (GRCm39) probably null Het
Cep192 T C 18: 67,991,939 (GRCm39) V1939A possibly damaging Het
Chrnb4 A T 9: 54,943,878 (GRCm39) L80Q probably damaging Het
Ckmt2 A T 13: 92,011,382 (GRCm39) L76H probably damaging Het
Cntnap2 C T 6: 45,992,197 (GRCm39) P375S possibly damaging Het
Cped1 A T 6: 22,215,522 (GRCm39) L685F probably damaging Het
Dab2ip T C 2: 35,610,025 (GRCm39) S682P probably damaging Het
Dclk1 A T 3: 55,154,707 (GRCm39) T46S probably damaging Het
Eif2d T A 1: 131,094,089 (GRCm39) C427S probably benign Het
Fat4 T A 3: 38,943,188 (GRCm39) Y694N probably damaging Het
Gpr35 T C 1: 92,910,594 (GRCm39) I102T probably damaging Het
Grk4 T A 5: 34,873,634 (GRCm39) N233K probably damaging Het
Hdac3 T C 18: 38,087,938 (GRCm39) D10G possibly damaging Het
Hexb G A 13: 97,318,437 (GRCm39) T308M probably damaging Het
Inpp5j C A 11: 3,451,595 (GRCm39) D436Y possibly damaging Het
Kif18a A G 2: 109,148,333 (GRCm39) E609G possibly damaging Het
Kif24 T C 4: 41,413,826 (GRCm39) probably null Het
Lrp4 G A 2: 91,316,519 (GRCm39) probably benign Het
Mat2b T C 11: 40,575,554 (GRCm39) K161E possibly damaging Het
Nek2 T G 1: 191,559,490 (GRCm39) probably benign Het
Numa1 A G 7: 101,662,493 (GRCm39) T1965A possibly damaging Het
Oca2 G A 7: 55,930,594 (GRCm39) G137D probably damaging Het
Pdcl2 T A 5: 76,472,959 (GRCm39) D3V probably damaging Het
Ranbp17 T C 11: 33,443,402 (GRCm39) N91S probably benign Het
Siglech A T 7: 55,418,635 (GRCm39) D146V possibly damaging Het
Slc4a3 C T 1: 75,531,727 (GRCm39) T898M probably damaging Het
Sp3 A G 2: 72,768,406 (GRCm39) probably benign Het
Tln1 C T 4: 43,542,719 (GRCm39) V1396I probably benign Het
Ugt2a3 T A 5: 87,473,514 (GRCm39) M468L probably damaging Het
Other mutations in Gm15217
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0149:Gm15217 UTSW 14 46,617,841 (GRCm39) intron probably benign
R0256:Gm15217 UTSW 14 46,617,853 (GRCm39) intron probably benign
R0361:Gm15217 UTSW 14 46,617,841 (GRCm39) intron probably benign
R0441:Gm15217 UTSW 14 46,620,676 (GRCm39) critical splice donor site probably null
R1736:Gm15217 UTSW 14 46,620,663 (GRCm39) intron probably benign
R8055:Gm15217 UTSW 14 46,616,911 (GRCm39) start gained probably benign
Posted On 2015-08-05