Incidental Mutation 'R7675:Gm5519'
ID 592436
Institutional Source Beutler Lab
Gene Symbol Gm5519
Ensembl Gene ENSMUSG00000037603
Gene Name predicted pseudogene 5519
Synonyms
MMRRC Submission 045706-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.291) question?
Stock # R7675 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 33800308-33802468 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 33802428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Alanine at position 157 (G157A)
Ref Sequence ENSEMBL: ENSMUSP00000047171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042061]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000042061
AA Change: G157A

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000047171
Gene: ENSMUSG00000037603
AA Change: G157A

DomainStartEndE-ValueType
Pfam:NUDIX 11 142 3.4e-17 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 97% (28/29)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010109A12Rik T C 5: 93,361,233 (GRCm39) S96P unknown Het
Acaca A G 11: 84,206,742 (GRCm39) E1534G probably benign Het
Adam7 A T 14: 68,737,302 (GRCm39) D773E probably benign Het
Cacna1s T A 1: 136,038,612 (GRCm39) I1398N probably damaging Het
Calu C T 6: 29,356,516 (GRCm39) T14I probably benign Het
Casp8 A G 1: 58,863,106 (GRCm39) D2G possibly damaging Het
Cldn1 T C 16: 26,190,261 (GRCm39) N39S probably benign Het
Clspn T C 4: 126,460,113 (GRCm39) S447P probably benign Het
Eef2k A G 7: 120,457,727 (GRCm39) T29A probably benign Het
Gucy2c A G 6: 136,693,030 (GRCm39) V723A possibly damaging Het
Ighv1-69 A T 12: 115,587,209 (GRCm39) W3R probably damaging Het
Inava G T 1: 136,143,741 (GRCm39) A565E probably benign Het
Krtap16-1 A G 11: 99,876,259 (GRCm39) C382R possibly damaging Het
Lrrc8a G A 2: 30,145,680 (GRCm39) D165N probably damaging Het
Mideas G T 12: 84,220,574 (GRCm39) P127T probably damaging Het
Naaladl2 T A 3: 24,605,816 (GRCm39) M148L probably benign Het
Nphp3 A T 9: 103,893,287 (GRCm39) E424D probably benign Het
Prpf40a T C 2: 53,035,648 (GRCm39) K714R possibly damaging Het
Ptpn23 A T 9: 110,216,094 (GRCm39) L1254* probably null Het
Sap30l A G 11: 57,700,867 (GRCm39) K174E probably damaging Het
Serpinb9d C T 13: 33,386,759 (GRCm39) Q276* probably null Het
Sp140l2 C T 1: 85,224,736 (GRCm39) M266I probably benign Het
Spata31f3 TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG 4: 42,871,823 (GRCm39) probably benign Het
Tex14 A G 11: 87,400,504 (GRCm39) D432G probably damaging Het
Tmsb10b A T 7: 24,561,784 (GRCm39) T28S probably benign Het
Unc119 G A 11: 78,234,423 (GRCm39) G11R probably damaging Het
Usp36 A G 11: 118,154,522 (GRCm39) V965A probably benign Het
Vmn2r4 A T 3: 64,322,657 (GRCm39) Y21N probably benign Het
Zbtb38 G T 9: 96,567,594 (GRCm39) D1163E probably benign Het
Zfp62 A G 11: 49,106,847 (GRCm39) I313V possibly damaging Het
Zfp980 C T 4: 145,428,164 (GRCm39) Q298* probably null Het
Other mutations in Gm5519
AlleleSourceChrCoordTypePredicted EffectPPH Score
Graham UTSW 19 33,802,471 (GRCm39) makesense probably null
R1171:Gm5519 UTSW 19 33,800,372 (GRCm39) missense possibly damaging 0.79
R1317:Gm5519 UTSW 19 33,802,391 (GRCm39) missense possibly damaging 0.77
R1751:Gm5519 UTSW 19 33,802,391 (GRCm39) missense possibly damaging 0.77
R2873:Gm5519 UTSW 19 33,802,410 (GRCm39) missense possibly damaging 0.88
R5117:Gm5519 UTSW 19 33,802,471 (GRCm39) makesense probably null
R5256:Gm5519 UTSW 19 33,800,576 (GRCm39) missense probably damaging 1.00
R6355:Gm5519 UTSW 19 33,802,471 (GRCm39) makesense probably null
R7673:Gm5519 UTSW 19 33,802,428 (GRCm39) missense probably benign 0.08
R7674:Gm5519 UTSW 19 33,802,428 (GRCm39) missense probably benign 0.08
R8078:Gm5519 UTSW 19 33,800,357 (GRCm39) missense possibly damaging 0.51
Predicted Primers PCR Primer
(F):5'- AAATGCCTTGCTTTCTGCCG -3'
(R):5'- AGATAATGAACTGCAAGCTCCTTAC -3'

Sequencing Primer
(F):5'- GCCGTCTCTGCGTACTGATTG -3'
(R):5'- TATTCTATGCCACCAGGACAATTCAG -3'
Posted On 2019-11-12