Incidental Mutation 'R8964:Eif3a'
ID 682656
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 068798-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R8964 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 60749555-60779096 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 60751630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1228 (D1228E)
Ref Sequence ENSEMBL: ENSMUSP00000025955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025955] [ENSMUST00000088237]
AlphaFold P23116
Predicted Effect unknown
Transcript: ENSMUST00000025955
AA Change: D1228E
SMART Domains Protein: ENSMUSP00000025955
Gene: ENSMUSG00000024991
AA Change: D1228E

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
Predicted Effect probably benign
Transcript: ENSMUST00000088237
SMART Domains Protein: ENSMUSP00000096874
Gene: ENSMUSG00000072437

DomainStartEndE-ValueType
low complexity region 3 24 N/A INTRINSIC
low complexity region 65 110 N/A INTRINSIC
low complexity region 141 152 N/A INTRINSIC
Pfam:zf-nanos 189 242 1e-28 PFAM
low complexity region 245 255 N/A INTRINSIC
Meta Mutation Damage Score 0.0663 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 100% (80/80)
Allele List at MGI

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

Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik C T 7: 130,740,716 (GRCm39) V167M probably benign Het
Abca6 G A 11: 110,139,363 (GRCm39) P37L probably benign Het
Abca9 A T 11: 110,038,075 (GRCm39) Y490* probably null Het
Abcb11 A G 2: 69,117,061 (GRCm39) V529A possibly damaging Het
Acox2 G T 14: 8,243,768 (GRCm38) Y529* probably null Het
Acte1 A G 7: 143,423,030 (GRCm39) T39A probably benign Het
Adck2 G T 6: 39,551,083 (GRCm39) probably benign Het
Agxt T A 1: 93,072,869 (GRCm39) C409S possibly damaging Het
Ahsa1 T A 12: 87,318,131 (GRCm39) I164N probably damaging Het
Arhgef1 A G 7: 24,622,462 (GRCm39) E647G probably damaging Het
Axin1 T G 17: 26,361,718 (GRCm39) F21V probably damaging Het
B3galnt1 A G 3: 69,482,589 (GRCm39) I224T probably damaging Het
Bche T C 3: 73,608,406 (GRCm39) K340R probably benign Het
Bpifb5 T A 2: 154,072,198 (GRCm39) W302R possibly damaging Het
Cd72 G A 4: 43,450,218 (GRCm39) T230I probably damaging Het
Cdc42ep4 T A 11: 113,620,278 (GRCm39) M38L probably damaging Het
Cdcp1 G A 9: 123,012,561 (GRCm39) Q329* probably null Het
Clps C A 17: 28,777,730 (GRCm39) probably benign Het
Cluap1 A G 16: 3,729,334 (GRCm39) probably benign Het
CN725425 C T 15: 91,119,972 (GRCm39) S31L possibly damaging Het
Cnbp T C 6: 87,821,086 (GRCm39) N158D probably benign Het
Crebbp A G 16: 3,909,753 (GRCm39) F1545S probably damaging Het
Cyp39a1 A T 17: 44,002,558 (GRCm39) T258S probably benign Het
Dclk2 T C 3: 86,743,698 (GRCm39) D257G probably damaging Het
Dock7 A T 4: 98,949,476 (GRCm39) D455E Het
Ehbp1 G A 11: 22,101,154 (GRCm39) Q259* probably null Het
Has2 A T 15: 56,531,061 (GRCm39) D551E probably damaging Het
Herc1 T A 9: 66,352,872 (GRCm39) N2119K probably damaging Het
Hsdl1 C T 8: 120,292,899 (GRCm39) A179T probably benign Het
Htt T A 5: 35,062,720 (GRCm39) M2818K probably benign Het
Il18bp A G 7: 101,665,591 (GRCm39) S80P possibly damaging Het
Ints10 A G 8: 69,264,631 (GRCm39) M455V probably benign Het
Ipcef1 T C 10: 6,869,789 (GRCm39) T255A possibly damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lrba T A 3: 86,258,552 (GRCm39) D1346E probably benign Het
Mdm1 T A 10: 118,002,585 (GRCm39) D635E probably damaging Het
Met C T 6: 17,527,144 (GRCm39) P532S probably damaging Het
Nlrc5 T A 8: 95,232,116 (GRCm39) M1314K possibly damaging Het
Notch1 A T 2: 26,371,062 (GRCm39) S341R possibly damaging Het
Nr3c2 T G 8: 77,881,941 (GRCm39) L670V probably damaging Het
Nuak1 C T 10: 84,210,734 (GRCm39) M451I probably benign Het
Nubp1 G A 16: 10,238,894 (GRCm39) V170I probably benign Het
Or5v1 G A 17: 37,809,664 (GRCm39) G41S probably damaging Het
Or9g8 T A 2: 85,606,964 (GRCm39) I12N probably damaging Het
Pamr1 T C 2: 102,464,811 (GRCm39) V320A possibly damaging Het
Pcdhb11 T A 18: 37,556,660 (GRCm39) N663K probably benign Het
Pcnx1 G A 12: 82,039,812 (GRCm39) G1400D Het
Pdxk A T 10: 78,283,771 (GRCm39) V141E probably benign Het
Pex5 A T 6: 124,375,740 (GRCm39) N520K probably benign Het
Pklr T C 3: 89,050,036 (GRCm39) V337A probably benign Het
Polb T C 8: 23,143,341 (GRCm39) D17G probably damaging Het
Ppp1r9b T C 11: 94,882,705 (GRCm39) L111P probably damaging Het
Prl3d1 A G 13: 27,283,926 (GRCm39) E165G possibly damaging Het
Prpf40a A G 2: 53,035,906 (GRCm39) F657S probably damaging Het
Ptgs2 C T 1: 149,980,798 (GRCm39) R455C probably damaging Het
Pzp T A 6: 128,464,462 (GRCm39) D1355V probably benign Het
Rasl12 T A 9: 65,314,913 (GRCm39) V72D probably damaging Het
Rfx2 C A 17: 57,093,696 (GRCm39) R266L probably damaging Het
Rnaseh2a T C 8: 85,686,434 (GRCm39) D204G probably benign Het
S1pr3 A C 13: 51,573,248 (GRCm39) K143T probably damaging Het
Sdr39u1 C A 14: 56,135,170 (GRCm39) A258S possibly damaging Het
Sntb2 T A 8: 107,707,808 (GRCm39) S191T possibly damaging Het
Sod3 T A 5: 52,525,696 (GRCm39) F132I probably damaging Het
Sorcs2 C T 5: 36,386,511 (GRCm39) V176I possibly damaging Het
Syne1 T C 10: 5,060,872 (GRCm39) I7256V Het
Tbc1d22b A G 17: 29,819,202 (GRCm39) E459G probably damaging Het
Tbkbp1 A G 11: 97,037,169 (GRCm39) S278P probably damaging Het
Thoc5 A T 11: 4,860,647 (GRCm39) E245D possibly damaging Het
Tmc7 G A 7: 118,160,228 (GRCm39) P203L probably benign Het
Tns2 T C 15: 102,011,553 (GRCm39) L11P possibly damaging Het
Trip11 A G 12: 101,811,315 (GRCm39) probably null Het
Ttn T G 2: 76,551,309 (GRCm39) Y31361S probably damaging Het
Vars2 T C 17: 35,970,699 (GRCm39) E678G possibly damaging Het
Vav1 C A 17: 57,606,122 (GRCm39) H249N probably benign Het
Vmn2r9 T A 5: 108,996,031 (GRCm39) I206L probably benign Het
Vps4a T C 8: 107,771,686 (GRCm39) S410P probably damaging Het
Wdr82 T C 9: 106,053,861 (GRCm39) Y71H possibly damaging Het
Zfand1 A G 3: 10,413,631 (GRCm39) Y19H probably benign Het
Zfp365 A T 10: 67,745,088 (GRCm39) I230N probably damaging Het
Zfp763 T C 17: 33,240,710 (GRCm39) T40A probably benign Het
Zfp788 A T 7: 41,297,003 (GRCm39) D51V 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
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
Predicted Primers PCR Primer
(F):5'- CTTGAGAAGAGCTTACATCACAACC -3'
(R):5'- AGCTACAGTGAGGTCTGTTTGC -3'

Sequencing Primer
(F):5'- CCTGACAAGTACACTAAATTTACTCG -3'
(R):5'- ATCCTGGAACGCATCTGTAG -3'
Posted On 2021-10-11