Incidental Mutation 'R5147:Gm19684'
ID 395177
Institutional Source Beutler Lab
Gene Symbol Gm19684
Ensembl Gene ENSMUSG00000092277
Gene Name predicted gene, 19684
Synonyms
MMRRC Submission 042731-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R5147 (G1)
Quality Score 99
Status Not validated
Chromosome 17
Chromosomal Location 36432570-36440584 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 36439411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 190 (V190M)
Ref Sequence ENSEMBL: ENSMUSP00000133734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046131] [ENSMUST00000172968] [ENSMUST00000173128] [ENSMUST00000173322]
AlphaFold G3UZ45
Predicted Effect probably damaging
Transcript: ENSMUST00000046131
AA Change: V190M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040558
Gene: ENSMUSG00000092243
AA Change: V190M

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:MHC_I 26 204 2.3e-81 PFAM
IGc1 220 285 8.12e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000172968
AA Change: V190M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133748
Gene: ENSMUSG00000092243
AA Change: V190M

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:MHC_I 26 204 1.5e-80 PFAM
IGc1 220 285 8.12e-13 SMART
Predicted Effect unknown
Transcript: ENSMUST00000173128
AA Change: R96C
SMART Domains Protein: ENSMUSP00000134339
Gene: ENSMUSG00000092277
AA Change: R96C

DomainStartEndE-ValueType
low complexity region 103 115 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000173322
AA Change: V190M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133734
Gene: ENSMUSG00000092243
AA Change: V190M

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:MHC_I 26 204 2.3e-81 PFAM
IGc1 220 285 8.12e-13 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,851,149 (GRCm39) Y2121H probably benign Het
Adgrf2 A G 17: 43,021,574 (GRCm39) Y417H probably damaging Het
Ap5z1 A C 5: 142,452,265 (GRCm39) D66A probably benign Het
Cachd1 T A 4: 100,821,688 (GRCm39) Y422N probably damaging Het
Cfap54 C T 10: 92,773,700 (GRCm39) G114D probably benign Het
Cgref1 C T 5: 31,091,049 (GRCm39) G255E probably benign Het
Cyp2a22 A C 7: 26,635,750 (GRCm39) L271R probably damaging Het
Dcp2 G T 18: 44,550,662 (GRCm39) E379* probably null Het
Fhl3 T A 4: 124,601,724 (GRCm39) D277E probably benign Het
Hpse T C 5: 100,867,375 (GRCm39) D29G probably benign Het
Il31 T C 5: 123,620,121 (GRCm39) probably benign Het
Ilk T C 7: 105,391,774 (GRCm39) C422R possibly damaging Het
Itga1 T G 13: 115,121,678 (GRCm39) D777A possibly damaging Het
Kank3 A G 17: 34,041,176 (GRCm39) D556G probably damaging Het
Lrit3 A G 3: 129,597,574 (GRCm39) S36P possibly damaging Het
Magi1 C T 6: 93,724,248 (GRCm39) E256K probably damaging Het
Mroh9 C G 1: 162,888,329 (GRCm39) G249R probably damaging Het
Mymk C T 2: 26,952,299 (GRCm39) M148I probably benign Het
Nlrp12 T A 7: 3,290,003 (GRCm39) I170F possibly damaging Het
Odad3 T C 9: 21,906,158 (GRCm39) E260G probably benign Het
Or5al7 A T 2: 85,992,378 (GRCm39) I305K possibly damaging Het
Or5an11 T A 19: 12,246,268 (GRCm39) S225T probably damaging Het
Pkd1l1 G A 11: 8,799,003 (GRCm39) T1803I possibly damaging Het
Ppp2r2b C T 18: 42,778,942 (GRCm39) V398I probably benign Het
Ppp2r5e T A 12: 75,516,544 (GRCm39) R214S probably damaging Het
Prss16 T C 13: 22,190,264 (GRCm39) D298G possibly damaging Het
Qprt G A 7: 126,707,622 (GRCm39) R189W probably damaging Het
Rara C T 11: 98,841,550 (GRCm39) S36F probably benign Het
Rasal2 A G 1: 157,003,264 (GRCm39) V465A probably damaging Het
Slc22a1 C T 17: 12,869,838 (GRCm39) G508R probably damaging Het
Slco2a1 C A 9: 102,927,468 (GRCm39) F120L probably damaging Het
Tex15 T A 8: 34,062,340 (GRCm39) L864* probably null Het
Tssk4 A G 14: 55,888,430 (GRCm39) I100V possibly damaging Het
Vgll4 A G 6: 114,867,576 (GRCm39) probably null Het
Vmn1r65 T G 7: 6,011,818 (GRCm39) I139L probably benign Het
Vps13b C T 15: 35,456,824 (GRCm39) P757S probably benign Het
Ythdc2 G A 18: 44,977,359 (GRCm39) G385E probably damaging Het
Other mutations in Gm19684
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0140:Gm19684 UTSW 17 36,438,319 (GRCm39) unclassified probably benign
R0306:Gm19684 UTSW 17 36,438,300 (GRCm39) unclassified probably benign
R0862:Gm19684 UTSW 17 36,432,792 (GRCm39) unclassified probably benign
R2329:Gm19684 UTSW 17 36,439,345 (GRCm39) intron probably benign
R4991:Gm19684 UTSW 17 36,438,364 (GRCm39) unclassified probably benign
R6340:Gm19684 UTSW 17 36,438,402 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TCTGAACTATCCTGAGAGAAGGG -3'
(R):5'- TTCCTACACGGGCACTATCAAC -3'

Sequencing Primer
(F):5'- CCTCTGGATACTGGGTCAAGAAAAC -3'
(R):5'- GGGCACTATCAACATGCCTATGATG -3'
Posted On 2016-06-21