Incidental Mutation 'IGL02032:Gm4778'
ID184385
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm4778
Ensembl Gene ENSMUSG00000089696
Gene Namepredicted gene 4778
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.902) question?
Stock #IGL02032
Quality Score
Status
Chromosome3
Chromosomal Location94264036-94266784 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 94266333 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 212 (V212A)
Ref Sequence ENSEMBL: ENSMUSP00000123868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098878] [ENSMUST00000159517]
Predicted Effect probably damaging
Transcript: ENSMUST00000098878
AA Change: V216A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096477
Gene: ENSMUSG00000089696
AA Change: V216A

DomainStartEndE-ValueType
MATH 25 134 6.01e-8 SMART
BTB 192 291 7.66e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000159517
AA Change: V212A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123868
Gene: ENSMUSG00000089696
AA Change: V212A

DomainStartEndE-ValueType
MATH 21 130 6.01e-8 SMART
BTB 188 287 7.66e-26 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 T A 5: 62,670,997 I944F probably damaging Het
Arhgef1 A G 7: 24,923,371 K614R probably benign Het
Cep170b T C 12: 112,737,333 probably null Het
Cps1 A T 1: 67,230,315 Y1491F probably benign Het
Dennd2d T C 3: 106,491,227 I176T probably damaging Het
Dnah1 T C 14: 31,274,369 Y2670C probably benign Het
Dock8 A T 19: 25,130,405 H833L probably damaging Het
Ell G A 8: 70,586,001 A463T probably benign Het
Emsy G T 7: 98,590,780 D1089E possibly damaging Het
Erc1 T G 6: 119,630,609 K677N probably damaging Het
Exd1 T G 2: 119,533,467 Q140P probably damaging Het
Fam114a1 T A 5: 65,015,371 V284E probably benign Het
Fbxo36 A G 1: 84,896,666 probably benign Het
Fig4 A T 10: 41,303,006 V16E probably benign Het
Gm4788 G A 1: 139,774,546 P67S probably damaging Het
H2-M1 A T 17: 36,671,876 Y31N probably damaging Het
Lrp5 A G 19: 3,615,886 probably benign Het
Nol8 A G 13: 49,672,772 T1023A probably benign Het
Olfr362 A T 2: 37,104,761 S296R probably damaging Het
Pygm A T 19: 6,388,087 T141S probably benign Het
Soat1 A G 1: 156,440,575 I254T probably benign Het
Stat5a A T 11: 100,861,828 D79V probably damaging Het
Ttn G T 2: 76,944,088 T2158N probably damaging Het
Usp29 A G 7: 6,962,018 K287E probably benign Het
Vav1 A T 17: 57,297,090 E164V possibly damaging Het
Vmn2r3 T A 3: 64,275,055 T408S possibly damaging Het
Vmn2r61 A T 7: 42,300,042 I629F probably damaging Het
Other mutations in Gm4778
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01767:Gm4778 APN 3 94266484 missense probably benign 0.00
IGL02694:Gm4778 APN 3 94266152 missense probably benign
IGL03171:Gm4778 APN 3 94266455 missense probably benign 0.00
R0195:Gm4778 UTSW 3 94265922 missense possibly damaging 0.79
R0739:Gm4778 UTSW 3 94265795 missense probably benign 0.17
R1064:Gm4778 UTSW 3 94265795 missense probably benign 0.17
R1149:Gm4778 UTSW 3 94265795 missense probably benign 0.17
R1149:Gm4778 UTSW 3 94265795 missense probably benign 0.17
R1150:Gm4778 UTSW 3 94265795 missense probably benign 0.17
R1152:Gm4778 UTSW 3 94265795 missense probably benign 0.17
R1284:Gm4778 UTSW 3 94265795 missense probably benign 0.17
R1286:Gm4778 UTSW 3 94265795 missense probably benign 0.17
R1287:Gm4778 UTSW 3 94265795 missense probably benign 0.17
R1349:Gm4778 UTSW 3 94266128 missense possibly damaging 0.94
R1358:Gm4778 UTSW 3 94265795 missense probably benign 0.17
R1372:Gm4778 UTSW 3 94266128 missense possibly damaging 0.94
R1383:Gm4778 UTSW 3 94265795 missense probably benign 0.17
R1399:Gm4778 UTSW 3 94265795 missense probably benign 0.17
R1756:Gm4778 UTSW 3 94266218 missense probably benign
R1996:Gm4778 UTSW 3 94265711 missense probably benign 0.00
R2679:Gm4778 UTSW 3 94265910 missense probably damaging 1.00
R2878:Gm4778 UTSW 3 94266480 missense possibly damaging 0.69
R5108:Gm4778 UTSW 3 94265835 missense probably damaging 1.00
R5706:Gm4778 UTSW 3 94266652 missense possibly damaging 0.91
R6251:Gm4778 UTSW 3 94265901 missense probably damaging 1.00
R6928:Gm4778 UTSW 3 94266548 missense probably benign 0.31
R7091:Gm4778 UTSW 3 94266638 missense probably damaging 1.00
R7264:Gm4778 UTSW 3 94265738 missense possibly damaging 0.86
R7503:Gm4778 UTSW 3 94266473 missense probably benign 0.29
R7595:Gm4778 UTSW 3 94266678 missense probably benign 0.00
Posted On2014-05-07