Incidental Mutation 'R4168:Gm12789'
ID 320648
Institutional Source Beutler Lab
Gene Symbol Gm12789
Ensembl Gene ENSMUSG00000078625
Gene Name predicted gene 12789
Synonyms
MMRRC Submission 041009-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R4168 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 101844037-101847428 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101847159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 148 (Y148C)
Ref Sequence ENSEMBL: ENSMUSP00000102528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106914] [ENSMUST00000106915]
AlphaFold B1AUV7
Predicted Effect possibly damaging
Transcript: ENSMUST00000106914
AA Change: Y148C

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000106915
AA Change: Y148C

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151553
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 98% (39/40)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C3 A T 17: 57,525,608 (GRCm39) F883I probably benign Het
Cbr4 T A 8: 61,944,555 (GRCm39) probably benign Het
Cd200r3 T A 16: 44,774,552 (GRCm39) D188E probably benign Het
Chpf2 T C 5: 24,796,788 (GRCm39) V578A possibly damaging Het
Clasrp A G 7: 19,315,079 (GRCm39) probably benign Het
Cmip A T 8: 118,183,656 (GRCm39) N743I probably damaging Het
Ctif A C 18: 75,770,286 (GRCm39) L33R probably damaging Het
Dmap1 T A 4: 117,538,507 (GRCm39) H54L possibly damaging Het
Elk3 A G 10: 93,101,197 (GRCm39) probably null Het
Fcgbpl1 T C 7: 27,836,534 (GRCm39) L151P probably benign Het
Flt4 G A 11: 49,521,400 (GRCm39) R440H probably benign Het
Gabrb2 A T 11: 42,312,155 (GRCm39) probably benign Het
Haspin A G 11: 73,026,848 (GRCm39) L747P probably damaging Het
Intu C T 3: 40,627,053 (GRCm39) P278L probably benign Het
Kif27 A G 13: 58,493,562 (GRCm39) I127T probably benign Het
Mogat1 T C 1: 78,488,672 (GRCm39) V25A possibly damaging Het
Nop14 A G 5: 34,814,088 (GRCm39) S157P probably damaging Het
Or5al6 A G 2: 85,976,523 (GRCm39) I185T probably benign Het
Or5d39 T C 2: 87,980,189 (GRCm39) H58R probably damaging Het
Or5k3 A T 16: 58,969,363 (GRCm39) Y50F probably benign Het
Oxct2b T C 4: 123,011,478 (GRCm39) L466P probably damaging Het
Padi6 A G 4: 140,469,245 (GRCm39) C32R probably damaging Het
Pla2r1 A T 2: 60,327,958 (GRCm39) Y501* probably null Het
Rb1cc1 G A 1: 6,300,248 (GRCm39) V8I probably damaging Het
Rexo5 A G 7: 119,426,621 (GRCm39) probably benign Het
Slco1a7 T C 6: 141,684,673 (GRCm39) I261V probably benign Het
Tmem119 T C 5: 113,933,048 (GRCm39) E251G probably benign Het
Vmn2r112 T A 17: 22,822,069 (GRCm39) M249K probably benign Het
Zc2hc1a A G 3: 7,583,451 (GRCm39) T41A probably benign Het
Zfp128 A G 7: 12,624,289 (GRCm39) D219G probably benign Het
Znrf2 T C 6: 54,840,945 (GRCm39) V173A possibly damaging Het
Other mutations in Gm12789
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0267:Gm12789 UTSW 4 101,845,319 (GRCm39) missense probably benign 0.03
R1282:Gm12789 UTSW 4 101,845,487 (GRCm39) missense probably damaging 1.00
R1551:Gm12789 UTSW 4 101,846,131 (GRCm39) missense probably benign 0.08
R2039:Gm12789 UTSW 4 101,846,183 (GRCm39) splice site probably benign
R4090:Gm12789 UTSW 4 101,845,526 (GRCm39) missense possibly damaging 0.78
R4585:Gm12789 UTSW 4 101,847,159 (GRCm39) missense possibly damaging 0.50
R4817:Gm12789 UTSW 4 101,846,079 (GRCm39) missense probably damaging 0.99
R4866:Gm12789 UTSW 4 101,846,182 (GRCm39) splice site probably benign
R4900:Gm12789 UTSW 4 101,846,182 (GRCm39) splice site probably benign
R5429:Gm12789 UTSW 4 101,847,158 (GRCm39) missense possibly damaging 0.50
R9723:Gm12789 UTSW 4 101,846,083 (GRCm39) missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- GCATGACCTTGACAGAGTCAC -3'
(R):5'- AAAATGGTTGGCTTGCCCTC -3'

Sequencing Primer
(F):5'- CTGACCTCAGTTCTTGGTTTACC -3'
(R):5'- CTCTCTCTGAGCTCACAATTGAAGAG -3'
Posted On 2015-06-12