Incidental Mutation 'IGL01717:Gm4978'
ID 104972
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm4978
Ensembl Gene ENSMUSG00000062874
Gene Name predicted gene 4978
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock # IGL01717
Quality Score
Status
Chromosome 9
Chromosomal Location 69450232-69451035 bp(-) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 69450873 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034756] [ENSMUST00000123470] [ENSMUST00000134907]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034756
SMART Domains Protein: ENSMUSP00000034756
Gene: ENSMUSG00000032231

DomainStartEndE-ValueType
ANX 50 102 5.79e-20 SMART
ANX 122 174 1.5e-27 SMART
ANX 207 259 8.2e-11 SMART
ANX 282 334 1.6e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000071565
SMART Domains Protein: ENSMUSP00000071496
Gene: ENSMUSG00000062874

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
Pfam:Ribosomal_L7Ae 123 217 9.7e-26 PFAM
low complexity region 252 263 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123470
SMART Domains Protein: ENSMUSP00000122175
Gene: ENSMUSG00000032231

DomainStartEndE-ValueType
ANX 50 102 5.79e-20 SMART
ANX 122 174 1.5e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134907
SMART Domains Protein: ENSMUSP00000117979
Gene: ENSMUSG00000032231

DomainStartEndE-ValueType
ANX 50 102 5.79e-20 SMART
ANX 122 174 1.5e-27 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,034,736 S4112G probably benign Het
Aif1 A T 17: 35,171,555 M73K probably damaging Het
Alk T C 17: 72,603,382 I110V probably benign Het
Aoah T C 13: 20,999,977 S404P probably damaging Het
Bhlhe41 A G 6: 145,863,037 S350P possibly damaging Het
Capn12 A G 7: 28,889,105 D540G probably benign Het
Chd6 A G 2: 160,965,259 Y2012H possibly damaging Het
Col1a1 A G 11: 94,950,777 T1284A unknown Het
Col24a1 T C 3: 145,524,263 probably benign Het
Col4a5 T A X: 141,639,238 V1070D unknown Het
Col6a5 T C 9: 105,940,273 T280A unknown Het
Dicer1 A T 12: 104,702,787 L1212* probably null Het
Gigyf1 T A 5: 137,525,691 V1041E probably damaging Het
Gnai1 A G 5: 18,291,461 probably null Het
Golgb1 C T 16: 36,915,502 R1704* probably null Het
Incenp A G 19: 9,893,265 probably benign Het
Lrrc39 A T 3: 116,579,497 probably benign Het
Man2a2 T C 7: 80,367,365 K319E probably damaging Het
Neb T C 2: 52,189,867 D83G probably damaging Het
Osbpl6 T C 2: 76,588,594 I732T probably damaging Het
Pacs1 T A 19: 5,167,972 K130N probably damaging Het
Pappa2 A G 1: 158,857,132 probably null Het
Pole2 T C 12: 69,213,849 M186V probably damaging Het
Rwdd4a T C 8: 47,544,105 probably benign Het
Sel1l3 A G 5: 53,200,168 Y161H probably damaging Het
Sf3a2 C T 10: 80,804,692 Q446* probably null Het
Slc26a3 T C 12: 31,463,477 I466T probably benign Het
Slc29a4 A T 5: 142,718,746 I348F probably damaging Het
Tbl1xr1 A G 3: 22,193,171 probably benign Het
Tlr5 A T 1: 182,975,398 I756F probably damaging Het
Ttn T A 2: 76,730,402 L29218F probably damaging Het
Ttn A T 2: 76,730,404 L29218I probably damaging Het
Other mutations in Gm4978
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02549:Gm4978 APN 9 69450359 unclassified probably benign
IGL02661:Gm4978 APN 9 69450898 unclassified probably benign
R4940:Gm4978 UTSW 9 69450872 unclassified probably benign
Y5404:Gm4978 UTSW 9 69450702 unclassified probably benign
Y5407:Gm4978 UTSW 9 69450702 unclassified probably benign
Posted On 2014-01-21