Incidental Mutation 'IGL00981:Eif3a'
ID 29552
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif3a
Ensembl Gene ENSMUSG00000024991
Gene Name eukaryotic translation initiation factor 3, subunit A
Synonyms Eif3, Csma, Eif3s10, A830012B05Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # IGL00981
Quality Score
Status
Chromosome 19
Chromosomal Location 60749555-60779096 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 60755049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1044 (D1044E)
Ref Sequence ENSEMBL: ENSMUSP00000025955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025955]
AlphaFold P23116
Predicted Effect unknown
Transcript: ENSMUST00000025955
AA Change: D1044E
SMART Domains Protein: ENSMUSP00000025955
Gene: ENSMUSG00000024991
AA Change: D1044E

DomainStartEndE-ValueType
coiled coil region 82 120 N/A INTRINSIC
PINT 426 506 5.69e-18 SMART
SCOP:d1f5aa2 563 711 5e-3 SMART
coiled coil region 772 880 N/A INTRINSIC
low complexity region 919 947 N/A INTRINSIC
low complexity region 951 976 N/A INTRINSIC
internal_repeat_2 978 991 1.01e-8 PROSPERO
low complexity region 993 1007 N/A INTRINSIC
low complexity region 1013 1027 N/A INTRINSIC
low complexity region 1033 1057 N/A INTRINSIC
low complexity region 1064 1089 N/A INTRINSIC
internal_repeat_1 1090 1111 6.2e-12 PROSPERO
internal_repeat_2 1099 1112 1.01e-8 PROSPERO
internal_repeat_1 1110 1131 6.2e-12 PROSPERO
low complexity region 1146 1173 N/A INTRINSIC
low complexity region 1176 1206 N/A INTRINSIC
low complexity region 1221 1260 N/A INTRINSIC
low complexity region 1265 1297 N/A INTRINSIC
low complexity region 1301 1314 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(36) : Targeted, other(2) Gene trapped(34)

Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik G A 18: 70,586,404 (GRCm39) Q478* probably null Het
Armh4 A T 14: 50,010,447 (GRCm39) L420Q probably damaging Het
Atp7b T C 8: 22,517,543 (GRCm39) probably null Het
Bcan T A 3: 87,905,139 (GRCm39) I2F possibly damaging Het
Boc A G 16: 44,312,164 (GRCm39) S633P probably damaging Het
C2cd6 A G 1: 59,117,104 (GRCm39) S130P probably damaging Het
Cacna1a T C 8: 85,275,182 (GRCm39) F490L probably damaging Het
Carm1 T A 9: 21,498,490 (GRCm39) D469E possibly damaging Het
Cdyl A T 13: 36,000,096 (GRCm39) S126C probably damaging Het
Ceacam5 A T 7: 17,479,458 (GRCm39) I192F probably benign Het
Cyp2b19 C T 7: 26,462,886 (GRCm39) T256I possibly damaging Het
Dlgap5 C T 14: 47,635,925 (GRCm39) E515K probably damaging Het
Eif3i T A 4: 129,488,862 (GRCm39) Y125F probably benign Het
Gnai1 T G 5: 18,472,045 (GRCm39) N346T probably benign Het
Kcnd1 C T X: 7,702,672 (GRCm39) T629I probably benign Het
Mcc A T 18: 44,582,416 (GRCm39) N578K probably damaging Het
Ncoa6 C T 2: 155,248,099 (GRCm39) R1735Q probably damaging Het
Nlrp4d A T 7: 10,116,021 (GRCm39) noncoding transcript Het
Nsun5 A T 5: 135,404,249 (GRCm39) Q352L possibly damaging Het
Or14j6 G A 17: 38,215,072 (GRCm39) V212M probably benign Het
Or2d2b C A 7: 106,705,268 (GRCm39) E267* probably null Het
Or2d2b T A 7: 106,705,269 (GRCm39) K266N probably benign Het
Or8g18 A G 9: 39,148,901 (GRCm39) V276A probably benign Het
Pkdrej C T 15: 85,703,857 (GRCm39) G693D probably damaging Het
Rpl10a-ps2 A T 13: 8,990,566 (GRCm39) probably benign Het
Spink1 C T 18: 43,870,159 (GRCm39) probably null Het
Sqle T C 15: 59,198,468 (GRCm39) V464A probably damaging Het
Trav6-4 A T 14: 53,692,153 (GRCm39) T84S probably damaging Het
Trim33 T A 3: 103,259,311 (GRCm39) probably benign Het
Txlng T C X: 161,567,368 (GRCm39) M319V probably benign Het
Wee1 A T 7: 109,738,876 (GRCm39) E582D probably damaging Het
Other mutations in Eif3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:Eif3a APN 19 60,758,328 (GRCm39) missense unknown
IGL01650:Eif3a APN 19 60,762,434 (GRCm39) missense probably damaging 1.00
IGL01926:Eif3a APN 19 60,758,399 (GRCm39) missense unknown
IGL02100:Eif3a APN 19 60,755,442 (GRCm39) splice site probably benign
IGL02316:Eif3a APN 19 60,760,076 (GRCm39) splice site probably benign
IGL02444:Eif3a APN 19 60,762,045 (GRCm39) missense possibly damaging 0.89
IGL02552:Eif3a APN 19 60,751,664 (GRCm39) unclassified probably benign
IGL02797:Eif3a APN 19 60,761,164 (GRCm39) missense probably damaging 1.00
IGL03108:Eif3a APN 19 60,770,747 (GRCm39) missense possibly damaging 0.85
FR4304:Eif3a UTSW 19 60,763,728 (GRCm39) critical splice donor site probably benign
FR4548:Eif3a UTSW 19 60,763,729 (GRCm39) critical splice donor site probably benign
FR4737:Eif3a UTSW 19 60,763,727 (GRCm39) critical splice donor site probably benign
FR4976:Eif3a UTSW 19 60,763,729 (GRCm39) critical splice donor site probably benign
G5538:Eif3a UTSW 19 60,770,340 (GRCm39) missense probably damaging 0.97
R0054:Eif3a UTSW 19 60,755,264 (GRCm39) missense unknown
R0054:Eif3a UTSW 19 60,755,264 (GRCm39) missense unknown
R1483:Eif3a UTSW 19 60,757,164 (GRCm39) missense unknown
R1636:Eif3a UTSW 19 60,770,343 (GRCm39) missense possibly damaging 0.93
R1748:Eif3a UTSW 19 60,755,236 (GRCm39) missense unknown
R1857:Eif3a UTSW 19 60,770,635 (GRCm39) missense probably damaging 1.00
R1858:Eif3a UTSW 19 60,770,635 (GRCm39) missense probably damaging 1.00
R1993:Eif3a UTSW 19 60,769,954 (GRCm39) missense probably benign 0.19
R2034:Eif3a UTSW 19 60,750,568 (GRCm39) unclassified probably benign
R2099:Eif3a UTSW 19 60,752,551 (GRCm39) unclassified probably benign
R2140:Eif3a UTSW 19 60,763,832 (GRCm39) splice site probably benign
R2434:Eif3a UTSW 19 60,752,488 (GRCm39) unclassified probably benign
R2940:Eif3a UTSW 19 60,762,115 (GRCm39) missense probably benign 0.22
R4630:Eif3a UTSW 19 60,766,424 (GRCm39) missense probably benign 0.41
R4630:Eif3a UTSW 19 60,758,366 (GRCm39) missense unknown
R4926:Eif3a UTSW 19 60,751,656 (GRCm39) unclassified probably benign
R5366:Eif3a UTSW 19 60,767,971 (GRCm39) missense probably benign 0.12
R6003:Eif3a UTSW 19 60,755,319 (GRCm39) missense unknown
R6082:Eif3a UTSW 19 60,760,568 (GRCm39) missense possibly damaging 0.82
R6256:Eif3a UTSW 19 60,759,464 (GRCm39) missense possibly damaging 0.72
R7056:Eif3a UTSW 19 60,751,500 (GRCm39) splice site probably null
R7365:Eif3a UTSW 19 60,755,082 (GRCm39) missense unknown
R7922:Eif3a UTSW 19 60,764,280 (GRCm39) missense probably damaging 1.00
R8076:Eif3a UTSW 19 60,762,363 (GRCm39) missense probably damaging 0.97
R8169:Eif3a UTSW 19 60,750,628 (GRCm39) missense unknown
R8246:Eif3a UTSW 19 60,767,806 (GRCm39) missense probably damaging 1.00
R8474:Eif3a UTSW 19 60,767,929 (GRCm39) missense possibly damaging 0.63
R8546:Eif3a UTSW 19 60,755,208 (GRCm39) missense unknown
R8964:Eif3a UTSW 19 60,751,630 (GRCm39) missense unknown
R9071:Eif3a UTSW 19 60,751,634 (GRCm39) missense unknown
R9290:Eif3a UTSW 19 60,765,221 (GRCm39) missense probably damaging 1.00
R9484:Eif3a UTSW 19 60,755,006 (GRCm39) missense unknown
R9780:Eif3a UTSW 19 60,766,398 (GRCm39) missense probably damaging 1.00
X0028:Eif3a UTSW 19 60,770,340 (GRCm39) missense probably damaging 0.97
X0066:Eif3a UTSW 19 60,750,731 (GRCm39) unclassified probably benign
Posted On 2013-04-17