Incidental Mutation 'IGL03346:Gm8909'
ID 417444
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm8909
Ensembl Gene ENSMUSG00000073402
Gene Name predicted gene 8909
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL03346
Quality Score
Status
Chromosome 17
Chromosomal Location 36164443-36168537 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 36168109 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 83 (D83Y)
Ref Sequence ENSEMBL: ENSMUSP00000094947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040467] [ENSMUST00000097335] [ENSMUST00000173353]
AlphaFold G3UXE9
Predicted Effect probably damaging
Transcript: ENSMUST00000040467
AA Change: D55Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036092
Gene: ENSMUSG00000073402
AA Change: D55Y

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 26 204 5.9e-96 PFAM
IGc1 223 294 8.23e-23 SMART
transmembrane domain 310 332 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000090537
SMART Domains Protein: ENSMUSP00000088025
Gene: ENSMUSG00000038311

DomainStartEndE-ValueType
SCOP:d2sqca2 105 173 2e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000097335
AA Change: D83Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094947
Gene: ENSMUSG00000073402
AA Change: D83Y

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 54 232 7.3e-96 PFAM
IGc1 251 322 8.23e-23 SMART
transmembrane domain 338 360 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000173353
AA Change: D83Y

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133663
Gene: ENSMUSG00000073402
AA Change: D83Y

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 54 232 3.9e-93 PFAM
IGc1 251 322 8.23e-23 SMART
transmembrane domain 338 360 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173625
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173648
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174693
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 C T 16: 29,314,604 V410M probably benign Het
Cdkn2aip G T 8: 47,713,618 D51E probably benign Het
Chd6 A G 2: 160,960,362 V2184A probably benign Het
Clcn1 C T 6: 42,311,219 T797I probably benign Het
Cldn23 G A 8: 35,825,440 probably benign Het
Cntnap4 A G 8: 112,773,576 D500G probably benign Het
Cog5 A T 12: 31,894,038 I641F possibly damaging Het
Cr2 A T 1: 195,169,759 V94E probably damaging Het
Creg2 T G 1: 39,650,747 D65A probably damaging Het
Dennd4a A G 9: 64,888,526 R711G possibly damaging Het
Efr3b A G 12: 3,984,648 V58A probably damaging Het
Fbxo3 A G 2: 104,050,294 T250A probably damaging Het
Fzr1 T C 10: 81,369,184 T300A probably benign Het
Gabrg1 A T 5: 70,778,131 Y227N possibly damaging Het
Gins3 A G 8: 95,643,275 I197V probably benign Het
Gm17079 T C 14: 51,692,963 T142A possibly damaging Het
Gna15 T C 10: 81,503,045 Y320C probably damaging Het
Hibch G A 1: 52,920,380 probably benign Het
Kif5b G A 18: 6,222,767 R355W probably damaging Het
Klf1 T C 8: 84,902,932 S129P probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Nat8f5 A G 6: 85,817,658 S107P probably damaging Het
Olfr331 A G 11: 58,501,755 L267P possibly damaging Het
Olfr938 C A 9: 39,077,961 Q261H probably benign Het
Olfr938 T A 9: 39,077,962 Q261L probably damaging Het
Pcdhb18 G A 18: 37,489,621 M1I probably null Het
Plcb3 A G 19: 6,955,052 F1080L probably benign Het
Polr2g T C 19: 8,798,305 H14R probably damaging Het
Rp1l1 A G 14: 64,029,440 D825G probably benign Het
Scn3a G A 2: 65,536,672 A2V probably damaging Het
Slc25a54 T C 3: 109,085,730 probably benign Het
Smad9 C A 3: 54,789,215 Q234K probably benign Het
Tie1 T C 4: 118,472,828 Y1066C probably damaging Het
Traf1 T C 2: 34,948,472 E118G probably benign Het
Ttc21b T C 2: 66,237,848 D278G possibly damaging Het
Uaca C A 9: 60,854,318 T204K probably damaging Het
Utrn A T 10: 12,525,352 Y154N probably benign Het
Virma A G 4: 11,518,984 T694A probably benign Het
Vmn2r50 T C 7: 10,046,002 D500G probably damaging Het
Vmn2r59 T A 7: 42,043,829 H449L probably benign Het
Other mutations in Gm8909
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Gm8909 APN 17 36165354 critical splice donor site probably null
IGL00534:Gm8909 APN 17 36168129 missense probably damaging 1.00
IGL02312:Gm8909 APN 17 36165407 missense probably benign 0.01
H8441:Gm8909 UTSW 17 36167982 missense possibly damaging 0.84
R0005:Gm8909 UTSW 17 36162192 unclassified probably benign
R0078:Gm8909 UTSW 17 36165461 missense possibly damaging 0.95
R0211:Gm8909 UTSW 17 36168007 missense probably damaging 1.00
R0211:Gm8909 UTSW 17 36168007 missense probably damaging 1.00
R0233:Gm8909 UTSW 17 36167469 missense probably benign 0.42
R0233:Gm8909 UTSW 17 36167469 missense probably benign 0.42
R0553:Gm8909 UTSW 17 36168057 missense probably damaging 1.00
R0670:Gm8909 UTSW 17 36168098 missense possibly damaging 0.74
R1718:Gm8909 UTSW 17 36161784 unclassified probably benign
R1937:Gm8909 UTSW 17 36168007 missense probably damaging 1.00
R2571:Gm8909 UTSW 17 36167661 missense possibly damaging 0.66
R4393:Gm8909 UTSW 17 36161969 unclassified probably benign
R4396:Gm8909 UTSW 17 36161969 unclassified probably benign
R4409:Gm8909 UTSW 17 36165850 missense possibly damaging 0.53
R4505:Gm8909 UTSW 17 36161480 unclassified probably benign
R4506:Gm8909 UTSW 17 36161480 unclassified probably benign
R4507:Gm8909 UTSW 17 36161480 unclassified probably benign
R4579:Gm8909 UTSW 17 36161757 unclassified probably benign
R4684:Gm8909 UTSW 17 36165858 missense possibly damaging 0.90
R4740:Gm8909 UTSW 17 36167556 missense probably damaging 1.00
R5087:Gm8909 UTSW 17 36165416 nonsense probably null
R5103:Gm8909 UTSW 17 36161685 unclassified probably benign
R5275:Gm8909 UTSW 17 36161675 splice site probably null
R5425:Gm8909 UTSW 17 36168485 missense probably damaging 1.00
R6155:Gm8909 UTSW 17 36167507 missense possibly damaging 0.93
R6727:Gm8909 UTSW 17 36165730 missense probably damaging 1.00
R6852:Gm8909 UTSW 17 36168073 missense possibly damaging 0.52
R7985:Gm8909 UTSW 17 36167553 missense probably damaging 1.00
R8316:Gm8909 UTSW 17 36168262 missense unknown
R8872:Gm8909 UTSW 17 36165401 missense probably benign 0.00
R9046:Gm8909 UTSW 17 36165143 critical splice donor site probably null
R9296:Gm8909 UTSW 17 36168277 missense unknown
Z1177:Gm8909 UTSW 17 36165712 missense probably damaging 1.00
Posted On 2016-08-02