Incidental Mutation 'IGL01665:Gm45234'
ID 103288
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm45234
Ensembl Gene ENSMUSG00000107478
Gene Name predicted gene 45234
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL01665
Quality Score
Status
Chromosome 6
Chromosomal Location 124716152-124732984 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 124723571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088357] [ENSMUST00000129411] [ENSMUST00000146872]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000088357
AA Change: V554A
SMART Domains Protein: ENSMUSP00000085695
Gene: ENSMUSG00000004263
AA Change: V554A

DomainStartEndE-ValueType
Pfam:Atrophin-1 1 191 7.9e-30 PFAM
low complexity region 209 218 N/A INTRINSIC
low complexity region 231 253 N/A INTRINSIC
low complexity region 256 297 N/A INTRINSIC
low complexity region 301 317 N/A INTRINSIC
low complexity region 351 372 N/A INTRINSIC
low complexity region 378 396 N/A INTRINSIC
Pfam:Atrophin-1 405 1174 4.6e-209 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000129411
AA Change: V554A
SMART Domains Protein: ENSMUSP00000115407
Gene: ENSMUSG00000107478
AA Change: V554A

DomainStartEndE-ValueType
Pfam:Atrophin-1 1 164 3.8e-33 PFAM
low complexity region 209 218 N/A INTRINSIC
low complexity region 231 253 N/A INTRINSIC
low complexity region 256 297 N/A INTRINSIC
low complexity region 301 317 N/A INTRINSIC
Pfam:Atrophin-1 327 1175 1.7e-192 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133577
Predicted Effect probably benign
Transcript: ENSMUST00000146872
SMART Domains Protein: ENSMUSP00000123560
Gene: ENSMUSG00000004263

DomainStartEndE-ValueType
Pfam:Atrophin-1 1 182 2.6e-36 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 T A 9: 54,530,004 (GRCm39) I231L probably benign Het
Adcyap1 T A 17: 93,507,506 (GRCm39) V22D probably damaging Het
Adgra3 T C 5: 50,164,272 (GRCm39) T236A possibly damaging Het
Adipor2 A T 6: 119,338,887 (GRCm39) L122H probably benign Het
Atp1a4 T C 1: 172,074,291 (GRCm39) I321V probably benign Het
Bhmt2 A T 13: 93,799,661 (GRCm39) Y258* probably null Het
C230029F24Rik T A 1: 49,377,253 (GRCm39) noncoding transcript Het
Ccpg1 T A 9: 72,913,159 (GRCm39) F232I probably damaging Het
Cd83 A T 13: 43,955,153 (GRCm39) T195S probably benign Het
Cdcp3 G T 7: 130,848,386 (GRCm39) G847* probably null Het
Cfap70 G A 14: 20,453,186 (GRCm39) T897M probably damaging Het
Cyp3a11 T A 5: 145,805,475 (GRCm39) M181L probably benign Het
Frem2 C T 3: 53,457,083 (GRCm39) V2090I probably benign Het
Gm7964 T A 7: 83,406,341 (GRCm39) noncoding transcript Het
Igsf9 T A 1: 172,319,738 (GRCm39) C39* probably null Het
Il1rap A T 16: 26,541,463 (GRCm39) D568V probably damaging Het
Ints7 C T 1: 191,345,331 (GRCm39) probably benign Het
Lsamp C T 16: 41,964,375 (GRCm39) R250* probably null Het
Oit3 T A 10: 59,274,731 (GRCm39) D23V probably damaging Het
Pcdh17 T A 14: 84,684,442 (GRCm39) L303Q probably damaging Het
Pcdhb1 T A 18: 37,400,450 (GRCm39) N800K probably benign Het
Plce1 A G 19: 38,513,331 (GRCm39) D210G probably benign Het
Plekhb2 T A 1: 34,908,411 (GRCm39) Y152N probably damaging Het
Rbp3 T C 14: 33,678,088 (GRCm39) S679P probably benign Het
Rps6kc1 T C 1: 190,643,854 (GRCm39) T2A possibly damaging Het
Tmem167 T A 13: 90,246,504 (GRCm39) S9R probably damaging Het
Xpnpep1 A T 19: 52,985,463 (GRCm39) S522T probably benign Het
Other mutations in Gm45234
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Gm45234 APN 6 124,723,394 (GRCm39) missense probably damaging 0.98
IGL01928:Gm45234 APN 6 124,721,967 (GRCm39) unclassified probably benign
IGL02012:Gm45234 APN 6 124,723,011 (GRCm39) unclassified probably benign
IGL02084:Gm45234 APN 6 124,724,658 (GRCm39) unclassified probably benign
Posted On 2014-01-21