Incidental Mutation 'R9780:Eif3a'
ID 734015
Institutional Source Beutler Lab
Gene Symbol Eif3a
Ensembl Gene ENSMUSG00000024991
Gene Name eukaryotic translation initiation factor 3, subunit A
Synonyms Eif3, Csma, Eif3s10, A830012B05Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R9780 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 60749555-60779096 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 60766398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 310 (L310H)
Ref Sequence ENSEMBL: ENSMUSP00000025955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025955]
AlphaFold P23116
Predicted Effect probably damaging
Transcript: ENSMUST00000025955
AA Change: L310H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025955
Gene: ENSMUSG00000024991
AA Change: L310H

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
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,911,447 (GRCm39) T1344A probably benign Het
Actrt3 T A 3: 30,652,876 (GRCm39) I73F probably damaging Het
Ankrd24 T C 10: 81,482,196 (GRCm39) S915P possibly damaging Het
Ano1 A T 7: 144,209,358 (GRCm39) F281I probably damaging Het
Arhgap42 A G 9: 9,059,102 (GRCm39) V148A probably benign Het
Arnt2 A G 7: 83,954,426 (GRCm39) I256T probably benign Het
Bloc1s3 G A 7: 19,241,408 (GRCm39) S40L possibly damaging Het
Cep68 G A 11: 20,192,142 (GRCm39) P19L probably benign Het
Chst9 T A 18: 15,586,221 (GRCm39) Q114L probably benign Het
Cpa2 T A 6: 30,545,536 (GRCm39) F106I probably benign Het
Cplane1 A G 15: 8,258,123 (GRCm39) E2123G probably benign Het
Crocc T C 4: 140,756,556 (GRCm39) D1187G probably benign Het
Dhx8 A T 11: 101,632,403 (GRCm39) D454V possibly damaging Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Ergic3 C A 2: 155,853,164 (GRCm39) Y202* probably null Het
Fam117a A T 11: 95,268,309 (GRCm39) I237L possibly damaging Het
Fcsk T C 8: 111,613,743 (GRCm39) M773V probably benign Het
Gcnt4 T A 13: 97,083,948 (GRCm39) S415T probably benign Het
Hacl1 C A 14: 31,362,519 (GRCm39) V43L possibly damaging Het
Hbb-bh2 A G 7: 103,489,624 (GRCm39) L4P probably damaging Het
Hmbs A G 9: 44,247,985 (GRCm39) L357P probably damaging Het
Hpcal1 A G 12: 17,836,494 (GRCm39) Y108C probably damaging Het
Hspa14 A T 2: 3,490,741 (GRCm39) M482K probably damaging Het
Ifi27l2b G T 12: 103,417,461 (GRCm39) P242Q unknown Het
Insyn1 A G 9: 58,406,881 (GRCm39) N264D probably damaging Het
Itpr1 T C 6: 108,487,795 (GRCm39) V2407A probably benign Het
Lcp1 T C 14: 75,440,178 (GRCm39) F154S probably damaging Het
Lmod2 T C 6: 24,604,233 (GRCm39) S403P probably damaging Het
Lrrc63 G A 14: 75,360,500 (GRCm39) A334V probably damaging Het
Lrriq1 T A 10: 103,025,824 (GRCm39) T933S probably damaging Het
Mga A G 2: 119,747,253 (GRCm39) Y468C probably benign Het
Msh4 T C 3: 153,582,342 (GRCm39) Y510C probably damaging Het
Myh11 T C 16: 14,064,613 (GRCm39) K235R Het
Nek2 A T 1: 191,554,738 (GRCm39) D150V probably damaging Het
Nfkbil1 C A 17: 35,439,898 (GRCm39) R205L possibly damaging Het
Nox3 A G 17: 3,736,260 (GRCm39) F122S possibly damaging Het
Nrxn1 A G 17: 90,931,042 (GRCm39) V718A possibly damaging Het
Oplah A G 15: 76,181,940 (GRCm39) I1061T probably damaging Het
Or13e8 G A 4: 43,697,193 (GRCm39) probably benign Het
Or2y16 G A 11: 49,335,014 (GRCm39) C112Y possibly damaging Het
Or51b17 A G 7: 103,542,631 (GRCm39) S104P probably damaging Het
Or9m1 A G 2: 87,733,426 (GRCm39) L198P probably damaging Het
Pcf11 A T 7: 92,313,313 (GRCm39) D123E possibly damaging Het
Pcna C T 2: 132,094,794 (GRCm39) E55K probably benign Het
Pip5k1c T C 10: 81,141,030 (GRCm39) V46A probably benign Het
Plce1 T G 19: 38,609,134 (GRCm39) L481R possibly damaging Het
Psma7 A T 2: 179,678,339 (GRCm39) Y228N unknown Het
Rcbtb1 T A 14: 59,465,796 (GRCm39) Y380N probably benign Het
Rin2 A T 2: 145,718,551 (GRCm39) E677V probably damaging Het
Scgb2b11 A G 7: 31,909,861 (GRCm39) L75P probably damaging Het
Scn4a A G 11: 106,226,235 (GRCm39) V775A probably damaging Het
Setx A G 2: 29,016,999 (GRCm39) D34G possibly damaging Het
Slc38a9 A T 13: 112,862,591 (GRCm39) D430V probably damaging Het
Snapc4 A T 2: 26,267,019 (GRCm39) N77K possibly damaging Het
Stk32a T G 18: 43,375,049 (GRCm39) F20V probably benign Het
Taf1b G A 12: 24,564,818 (GRCm39) G145D probably damaging Het
Tomt G C 7: 101,549,536 (GRCm39) Q251E probably benign Het
Tsc1 G A 2: 28,565,761 (GRCm39) E471K probably damaging Het
Ttll9 G A 2: 152,836,023 (GRCm39) A256T possibly damaging Het
Ttn A T 2: 76,774,289 (GRCm39) C2252S probably benign Het
Ttn A T 2: 76,785,035 (GRCm39) D797E unknown Het
Usf3 T A 16: 44,039,181 (GRCm39) N1220K possibly damaging Het
Usp22 A T 11: 61,050,069 (GRCm39) H355Q probably benign Het
Virma T A 4: 11,513,442 (GRCm39) V432E possibly damaging Het
Vtn A C 11: 78,393,003 (GRCm39) D456A probably damaging Het
Zbbx A G 3: 74,945,359 (GRCm39) S688P probably damaging Het
Zfhx2 C A 14: 55,312,494 (GRCm39) D67Y probably benign Het
Zfp87 T C 13: 67,665,241 (GRCm39) H407R probably damaging Het
Other mutations in Eif3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:Eif3a APN 19 60,758,328 (GRCm39) missense unknown
IGL00981:Eif3a APN 19 60,755,049 (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
X0028:Eif3a UTSW 19 60,770,340 (GRCm39) missense probably damaging 0.97
X0066:Eif3a UTSW 19 60,750,731 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GATGGCCCAATTCTCCAAGG -3'
(R):5'- AAAGCTGTGGAAGATATTCATGGAC -3'

Sequencing Primer
(F):5'- TAGAGACAACTAGAGTCTTCCTGGC -3'
(R):5'- GGACTATTTTCCTTGTCTAAGAAACC -3'
Posted On 2022-11-14