Incidental Mutation 'IGL03139:Gid8'
ID 410637
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gid8
Ensembl Gene ENSMUSG00000027573
Gene Name GID complex subunit 8
Synonyms 2310003C23Rik, 4833420G11Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.914) question?
Stock # IGL03139
Quality Score
Status
Chromosome 2
Chromosomal Location 180351910-180360526 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 180356501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 46 (A46E)
Ref Sequence ENSEMBL: ENSMUSP00000077753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029090] [ENSMUST00000078687] [ENSMUST00000103055] [ENSMUST00000103057]
AlphaFold Q9D7M1
Predicted Effect probably damaging
Transcript: ENSMUST00000029090
AA Change: A46E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029090
Gene: ENSMUSG00000027573
AA Change: A46E

DomainStartEndE-ValueType
LisH 25 57 5.89e-9 SMART
CTLH 63 120 6.06e-20 SMART
CRA 116 212 8.11e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000078687
AA Change: A46E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077753
Gene: ENSMUSG00000027573
AA Change: A46E

DomainStartEndE-ValueType
LisH 25 57 5.89e-9 SMART
CTLH 63 120 6.06e-20 SMART
CRA 116 212 8.11e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103055
SMART Domains Protein: ENSMUSP00000099344
Gene: ENSMUSG00000038914

DomainStartEndE-ValueType
low complexity region 134 155 N/A INTRINSIC
PHD 267 317 1.19e-11 SMART
low complexity region 430 446 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103057
SMART Domains Protein: ENSMUSP00000099346
Gene: ENSMUSG00000038914

DomainStartEndE-ValueType
low complexity region 134 155 N/A INTRINSIC
PHD 267 317 1.19e-11 SMART
low complexity region 430 446 N/A INTRINSIC
TFS2M 669 770 1.16e-45 SMART
low complexity region 937 962 N/A INTRINSIC
low complexity region 1023 1037 N/A INTRINSIC
Pfam:SPOC 1052 1158 4.7e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150067
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A T 5: 99,391,067 (GRCm39) F97L probably benign Het
Acad10 T C 5: 121,764,145 (GRCm39) Y928C probably benign Het
Aqp7 A G 4: 41,045,326 (GRCm39) M18T probably benign Het
Atxn7 T C 14: 14,052,994 (GRCm38) V144A probably damaging Het
Baiap2l2 T A 15: 79,155,753 (GRCm39) N107I probably damaging Het
Cd180 A G 13: 102,842,924 (GRCm39) K657E probably damaging Het
Cep192 T C 18: 67,961,547 (GRCm39) probably null Het
Cma2 A G 14: 56,211,256 (GRCm39) I183V probably damaging Het
Col18a1 C A 10: 76,949,177 (GRCm39) A112S possibly damaging Het
Ctu2 A G 8: 123,205,446 (GRCm39) D100G possibly damaging Het
Defb29 T C 2: 152,380,812 (GRCm39) K66E probably damaging Het
Dis3l T A 9: 64,219,232 (GRCm39) D566V probably damaging Het
Dtx1 C A 5: 120,832,955 (GRCm39) R161L probably damaging Het
Efcab6 T A 15: 83,836,422 (GRCm39) L436F probably benign Het
Fip1l1 A G 5: 74,731,776 (GRCm39) I254V possibly damaging Het
Grm8 G T 6: 27,618,649 (GRCm39) Q398K probably damaging Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Iigp1c T C 18: 60,379,221 (GRCm39) V252A probably benign Het
Kcnt1 T C 2: 25,784,480 (GRCm39) probably benign Het
Lrrc8a T C 2: 30,145,683 (GRCm39) S166P probably damaging Het
Map2k6 A T 11: 110,387,299 (GRCm39) probably benign Het
Mmab A G 5: 114,571,405 (GRCm39) L157P probably damaging Het
Mmrn1 A T 6: 60,953,324 (GRCm39) E535V probably damaging Het
Mup4 T C 4: 59,958,482 (GRCm39) probably benign Het
Nup210 A G 6: 90,997,221 (GRCm39) S820P probably benign Het
Or52b4 A G 7: 102,184,517 (GRCm39) K188E possibly damaging Het
Pik3cg T C 12: 32,242,222 (GRCm39) I963V probably damaging Het
Plcg1 T C 2: 160,590,049 (GRCm39) probably null Het
Plscr1 T C 9: 92,148,438 (GRCm39) probably benign Het
Prss36 C T 7: 127,532,783 (GRCm39) G202E probably damaging Het
Psen2 A T 1: 180,068,350 (GRCm39) V101E probably damaging Het
Saxo1 T C 4: 86,405,999 (GRCm39) M67V possibly damaging Het
Sfrp4 G A 13: 19,807,728 (GRCm39) M42I probably damaging Het
Strn3 C A 12: 51,699,633 (GRCm39) probably benign Het
Tgfb1i1 C A 7: 127,848,476 (GRCm39) P197Q possibly damaging Het
Thsd4 A G 9: 59,904,456 (GRCm39) V580A probably benign Het
Tjp1 C A 7: 64,990,182 (GRCm39) probably benign Het
Tprn C T 2: 25,154,066 (GRCm39) A456V probably benign Het
Ttc34 T C 4: 154,945,727 (GRCm39) Y763H probably benign Het
Ttn T C 2: 76,601,507 (GRCm39) T18686A probably benign Het
Uggt2 T A 14: 119,332,722 (GRCm39) T71S probably benign Het
Vmn2r120 T A 17: 57,831,742 (GRCm39) Y349F probably benign Het
Zbtb41 A G 1: 139,351,576 (GRCm39) T230A probably benign Het
Other mutations in Gid8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0098:Gid8 UTSW 2 180,356,528 (GRCm39) missense possibly damaging 0.88
R0098:Gid8 UTSW 2 180,356,528 (GRCm39) missense possibly damaging 0.88
R0485:Gid8 UTSW 2 180,355,004 (GRCm39) nonsense probably null
R1367:Gid8 UTSW 2 180,355,025 (GRCm39) missense probably benign 0.00
R2156:Gid8 UTSW 2 180,358,751 (GRCm39) missense probably benign 0.20
R7002:Gid8 UTSW 2 180,355,096 (GRCm39) missense possibly damaging 0.90
R7358:Gid8 UTSW 2 180,359,779 (GRCm39) missense probably benign 0.03
R8432:Gid8 UTSW 2 180,356,654 (GRCm39) missense probably benign 0.10
R8877:Gid8 UTSW 2 180,358,710 (GRCm39) missense probably damaging 1.00
R9108:Gid8 UTSW 2 180,352,132 (GRCm39) unclassified probably benign
R9155:Gid8 UTSW 2 180,359,756 (GRCm39) nonsense probably null
R9533:Gid8 UTSW 2 180,358,713 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02