Incidental Mutation 'R2924:Gm5478'
ID 255680
Institutional Source Beutler Lab
Gene Symbol Gm5478
Ensembl Gene ENSMUSG00000095241
Gene Name predicted pseudogene 5478
Synonyms
MMRRC Submission 040509-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R2924 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 101551455-101555815 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 101552229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100184] [ENSMUST00000229963]
AlphaFold A0A2R8VHP3
Predicted Effect probably null
Transcript: ENSMUST00000100184
SMART Domains Protein: ENSMUSP00000097759
Gene: ENSMUSG00000095241

DomainStartEndE-ValueType
Pfam:Filament 1 114 1.1e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196489
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229579
Predicted Effect probably null
Transcript: ENSMUST00000229963
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230401
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9 A G 3: 97,117,069 (GRCm39) S542P probably benign Het
Cass4 A G 2: 172,268,592 (GRCm39) R225G possibly damaging Het
Ddx50 A T 10: 62,463,373 (GRCm39) V440E probably damaging Het
Dmrtc2 G A 7: 24,571,941 (GRCm39) C12Y probably damaging Het
Dock6 A T 9: 21,720,926 (GRCm39) I1693N probably damaging Het
Fuom T C 7: 139,679,862 (GRCm39) T110A probably benign Het
Gli2 C T 1: 118,764,089 (GRCm39) R1354H probably benign Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Il2rb T C 15: 78,376,049 (GRCm39) M1V probably null Het
Ints6l A G X: 55,550,196 (GRCm39) E483G probably benign Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Man2b2 A G 5: 36,981,446 (GRCm39) F224L probably benign Het
Mrgpra1 G A 7: 46,984,618 (GRCm39) probably null Het
Mtbp G A 15: 55,483,210 (GRCm39) R429Q probably benign Het
Ncapg2 C A 12: 116,402,349 (GRCm39) T727K probably benign Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Nup214 A G 2: 31,888,015 (GRCm39) K15E probably damaging Het
Or1e34 A G 11: 73,778,337 (GRCm39) I287T probably damaging Het
Oxr1 T C 15: 41,689,353 (GRCm39) Y526H probably benign Het
Plec A G 15: 76,062,452 (GRCm39) F2563S probably damaging Het
Prex2 A G 1: 11,168,711 (GRCm39) T236A probably damaging Het
Rbbp5 G C 1: 132,420,401 (GRCm39) probably null Het
Slc24a2 A G 4: 86,929,961 (GRCm39) S512P probably benign Het
Srd5a1 A G 13: 69,734,834 (GRCm39) S191P probably damaging Het
Syt3 T A 7: 44,045,222 (GRCm39) V518E probably damaging Het
Tmem132e T C 11: 82,335,149 (GRCm39) S652P probably damaging Het
Uba6 A T 5: 86,307,130 (GRCm39) V102D probably damaging Het
Unc13a A G 8: 72,097,596 (GRCm39) V1158A possibly damaging Het
Upk3a A G 15: 84,902,350 (GRCm39) Y59C probably benign Het
Zc3hav1 T C 6: 38,331,045 (GRCm39) Y38C probably damaging Het
Zfp119a C A 17: 56,175,343 (GRCm39) D51Y possibly damaging Het
Other mutations in Gm5478
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03137:Gm5478 APN 15 101,552,817 (GRCm39) missense probably benign 0.00
R0325:Gm5478 UTSW 15 101,552,761 (GRCm39) missense probably damaging 1.00
R0607:Gm5478 UTSW 15 101,553,059 (GRCm39) missense probably damaging 1.00
R1476:Gm5478 UTSW 15 101,553,080 (GRCm39) missense probably damaging 1.00
R1962:Gm5478 UTSW 15 101,552,830 (GRCm39) missense probably damaging 1.00
R3236:Gm5478 UTSW 15 101,552,738 (GRCm39) missense probably damaging 1.00
R4133:Gm5478 UTSW 15 101,553,080 (GRCm39) missense probably damaging 1.00
R5267:Gm5478 UTSW 15 101,552,837 (GRCm39) missense probably damaging 1.00
R5480:Gm5478 UTSW 15 101,552,100 (GRCm39) missense probably damaging 1.00
R5524:Gm5478 UTSW 15 101,553,102 (GRCm39) missense probably benign 0.31
R6959:Gm5478 UTSW 15 101,553,883 (GRCm39) missense probably damaging 0.99
R7035:Gm5478 UTSW 15 101,553,632 (GRCm39) missense possibly damaging 0.84
R8458:Gm5478 UTSW 15 101,553,862 (GRCm39) missense probably benign 0.00
R8461:Gm5478 UTSW 15 101,554,652 (GRCm39) missense probably damaging 1.00
R8725:Gm5478 UTSW 15 101,553,871 (GRCm39) missense probably damaging 1.00
R8727:Gm5478 UTSW 15 101,553,871 (GRCm39) missense probably damaging 1.00
R9448:Gm5478 UTSW 15 101,553,662 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCATGGACACTGGCATAGG -3'
(R):5'- CCATGGTTACTTCAAGAAACTCC -3'

Sequencing Primer
(F):5'- GCATAGGAATGGCTGCTGC -3'
(R):5'- AAGAAACTCCTTCCTGTGCTGGAG -3'
Posted On 2014-12-29