Incidental Mutation 'R7604:Eftud2'
ID 588187
Institutional Source Beutler Lab
Gene Symbol Eftud2
Ensembl Gene ENSMUSG00000020929
Gene Name elongation factor Tu GTP binding domain containing 2
Synonyms 116kDa, Snrp116, U5-116kD
MMRRC Submission 045644-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7604 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 102729299-102771811 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102738838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 517 (D517G)
Ref Sequence ENSEMBL: ENSMUSP00000102675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021306] [ENSMUST00000107060] [ENSMUST00000173679]
AlphaFold O08810
Predicted Effect probably damaging
Transcript: ENSMUST00000021306
AA Change: D518G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929
AA Change: D518G

DomainStartEndE-ValueType
Pfam:EFTUD2 3 110 1.1e-42 PFAM
Pfam:GTP_EFTU 127 440 9.6e-47 PFAM
Pfam:GTP_EFTU_D2 489 566 3.8e-15 PFAM
Pfam:EFG_II 584 656 9.9e-11 PFAM
EFG_IV 703 824 1.1e-16 SMART
EFG_C 826 915 1.14e-14 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107060
AA Change: D517G

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929
AA Change: D517G

DomainStartEndE-ValueType
low complexity region 16 26 N/A INTRINSIC
low complexity region 32 50 N/A INTRINSIC
Pfam:GTP_EFTU 126 439 9.6e-44 PFAM
Pfam:Miro 130 260 2.5e-6 PFAM
Pfam:GTP_EFTU_D2 488 565 7.9e-13 PFAM
Pfam:EFG_II 583 655 8.2e-10 PFAM
EFG_IV 702 823 1.1e-16 SMART
EFG_C 825 914 1.14e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172611
SMART Domains Protein: ENSMUSP00000134316
Gene: ENSMUSG00000020929

DomainStartEndE-ValueType
low complexity region 85 98 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000173679
AA Change: D508G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134327
Gene: ENSMUSG00000020929
AA Change: D508G

DomainStartEndE-ValueType
low complexity region 16 26 N/A INTRINSIC
low complexity region 29 51 N/A INTRINSIC
Pfam:GTP_EFTU 127 430 2.2e-36 PFAM
Pfam:GTP_EFTU_D2 479 556 7.8e-13 PFAM
Pfam:EFG_II 574 646 8.1e-10 PFAM
EFG_IV 693 814 1.1e-16 SMART
EFG_C 816 905 1.14e-14 SMART
Meta Mutation Damage Score 0.5181 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (73/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik A T 3: 146,356,415 (GRCm39) Y164* probably null Het
Abce1 G A 8: 80,426,003 (GRCm39) T258M probably benign Het
Actl7b G C 4: 56,740,693 (GRCm39) P222A probably benign Het
Adam2 T C 14: 66,293,990 (GRCm39) N279S probably benign Het
Adamts13 A G 2: 26,895,218 (GRCm39) D1103G probably benign Het
Aff1 G A 5: 103,995,675 (GRCm39) S1089N probably benign Het
Ahcyl2 T C 6: 29,768,555 (GRCm39) S7P unknown Het
Anks1b A G 10: 90,096,708 (GRCm39) probably null Het
Azin1 A C 15: 38,491,878 (GRCm39) D359E probably damaging Het
Bahd1 A G 2: 118,746,791 (GRCm39) T137A probably benign Het
Bltp1 A G 3: 37,003,992 (GRCm39) probably null Het
C1qbp A G 11: 70,869,598 (GRCm39) S162P probably damaging Het
C1rb A G 6: 124,557,443 (GRCm39) M527V not run Het
Ccdc88c A T 12: 100,896,806 (GRCm39) D1381E probably damaging Het
Ccdc90b A G 7: 92,227,738 (GRCm39) Y234C probably damaging Het
Cfap91 C A 16: 38,118,598 (GRCm39) E734* probably null Het
Cyp11b2 A T 15: 74,725,599 (GRCm39) probably null Het
Dchs1 A G 7: 105,415,189 (GRCm39) V665A probably damaging Het
Dhx8 T C 11: 101,655,623 (GRCm39) S1119P probably damaging Het
Dnah6 T C 6: 73,069,151 (GRCm39) D2512G probably damaging Het
Dnah8 T C 17: 31,032,069 (GRCm39) Y4130H probably damaging Het
E4f1 G T 17: 24,674,207 (GRCm39) A19D unknown Het
Epha6 T A 16: 60,026,135 (GRCm39) I436F possibly damaging Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Ezh1 A G 11: 101,107,855 (GRCm39) M74T probably benign Het
Galnt14 T A 17: 73,811,916 (GRCm39) K435M possibly damaging Het
Garin2 C A 12: 78,761,788 (GRCm39) Q151K probably damaging Het
Gde1 A T 7: 118,304,759 (GRCm39) Y39N possibly damaging Het
Gldn G A 9: 54,245,877 (GRCm39) R476Q probably benign Het
Gm32742 G T 9: 51,068,062 (GRCm39) R307S probably benign Het
Gnao1 T G 8: 94,670,972 (GRCm39) N150K Het
Gpr135 A T 12: 72,116,641 (GRCm39) D375E possibly damaging Het
Gria4 A G 9: 4,464,315 (GRCm39) M549T probably damaging Het
Grik3 C A 4: 125,517,428 (GRCm39) D90E probably damaging Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Hspd1 T C 1: 55,119,496 (GRCm39) E327G probably benign Het
Kif6 T C 17: 49,978,129 (GRCm39) I107T probably damaging Het
Kmt2e C T 5: 23,706,763 (GRCm39) T1442M not run Het
Lama3 C T 18: 12,633,550 (GRCm39) H1561Y possibly damaging Het
Lpcat3 A G 6: 124,679,493 (GRCm39) N331S probably benign Het
Lrrc63 C A 14: 75,322,409 (GRCm39) W565L possibly damaging Het
Malrd1 A G 2: 15,930,003 (GRCm39) N1503S unknown Het
Mcm7 C T 5: 138,167,986 (GRCm39) V38I probably benign Het
Mphosph9 C T 5: 124,454,180 (GRCm39) V106I probably benign Het
Mroh8 G T 2: 157,111,484 (GRCm39) L157I possibly damaging Het
Mta2 T A 19: 8,923,200 (GRCm39) S91T probably damaging Het
Muc5ac A T 7: 141,363,446 (GRCm39) Q2252H unknown Het
Ndufs7 G T 10: 80,089,531 (GRCm39) V59L probably benign Het
Nrxn2 T C 19: 6,581,991 (GRCm39) L1642P probably damaging Het
Or8k21 G A 2: 86,145,244 (GRCm39) P129S probably damaging Het
Pbxip1 A T 3: 89,352,902 (GRCm39) I183L probably benign Het
Peak1 A T 9: 56,148,491 (GRCm39) L1085* probably null Het
Phf20l1 A G 15: 66,475,933 (GRCm39) T189A probably benign Het
Poteg T A 8: 27,948,683 (GRCm39) probably null Het
Proc G A 18: 32,267,831 (GRCm39) probably null Het
Prr36 G A 8: 4,264,836 (GRCm39) R277C unknown Het
Ptpn3 T C 4: 57,240,845 (GRCm39) N257D probably damaging Het
Rnf5 C A 17: 34,820,638 (GRCm39) V150L probably benign Het
Sbf2 T A 7: 109,977,274 (GRCm39) Q666L possibly damaging Het
Sdk2 C T 11: 113,720,795 (GRCm39) R1378H possibly damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Sipa1l2 A T 8: 126,146,011 (GRCm39) V1681E probably benign Het
Slc15a5 A T 6: 138,056,784 (GRCm39) L44Q probably damaging Het
Slc29a1 C A 17: 45,903,250 (GRCm39) probably null Het
Slc5a8 G T 10: 88,740,822 (GRCm39) V246F possibly damaging Het
Spint2 T C 7: 28,957,944 (GRCm39) E154G probably damaging Het
Sycp1 A T 3: 102,820,749 (GRCm39) S413T probably damaging Het
Tpsg1 G T 17: 25,592,184 (GRCm39) G86V probably damaging Het
Trio A T 15: 27,736,531 (GRCm39) probably null Het
Unc13b A G 4: 43,170,102 (GRCm39) Y310C unknown Het
Unc13b A G 4: 43,256,776 (GRCm39) T1155A possibly damaging Het
Vmn2r79 A G 7: 86,652,592 (GRCm39) probably null Het
Xpo7 T A 14: 70,909,110 (GRCm39) S803C probably damaging Het
Zfp747l1 T C 7: 126,985,707 (GRCm39) T95A unknown Het
Other mutations in Eftud2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01448:Eftud2 APN 11 102,756,389 (GRCm39) splice site probably benign
IGL01765:Eftud2 APN 11 102,730,082 (GRCm39) missense probably damaging 0.99
IGL01868:Eftud2 APN 11 102,759,953 (GRCm39) missense probably benign 0.08
IGL02161:Eftud2 APN 11 102,745,702 (GRCm39) splice site probably benign
IGL02165:Eftud2 APN 11 102,742,573 (GRCm39) splice site probably benign
IGL02218:Eftud2 APN 11 102,761,039 (GRCm39) missense possibly damaging 0.46
IGL02386:Eftud2 APN 11 102,742,580 (GRCm39) splice site probably null
IGL02664:Eftud2 APN 11 102,732,538 (GRCm39) missense probably damaging 1.00
IGL02677:Eftud2 APN 11 102,737,440 (GRCm39) missense probably damaging 1.00
IGL02792:Eftud2 APN 11 102,761,082 (GRCm39) splice site probably benign
IGL02870:Eftud2 APN 11 102,753,452 (GRCm39) missense probably damaging 0.97
IGL03131:Eftud2 APN 11 102,761,009 (GRCm39) missense probably damaging 1.00
R0137:Eftud2 UTSW 11 102,759,443 (GRCm39) missense possibly damaging 0.94
R0244:Eftud2 UTSW 11 102,755,551 (GRCm39) missense probably damaging 0.97
R0358:Eftud2 UTSW 11 102,755,627 (GRCm39) splice site probably benign
R0463:Eftud2 UTSW 11 102,755,597 (GRCm39) missense probably damaging 1.00
R0511:Eftud2 UTSW 11 102,735,048 (GRCm39) missense probably damaging 1.00
R0525:Eftud2 UTSW 11 102,730,079 (GRCm39) missense probably damaging 1.00
R0586:Eftud2 UTSW 11 102,737,446 (GRCm39) missense probably damaging 1.00
R0751:Eftud2 UTSW 11 102,730,079 (GRCm39) missense probably damaging 1.00
R1034:Eftud2 UTSW 11 102,740,010 (GRCm39) missense probably benign
R1079:Eftud2 UTSW 11 102,730,870 (GRCm39) nonsense probably null
R1208:Eftud2 UTSW 11 102,755,592 (GRCm39) missense probably benign 0.22
R1208:Eftud2 UTSW 11 102,755,592 (GRCm39) missense probably benign 0.22
R1220:Eftud2 UTSW 11 102,742,573 (GRCm39) splice site probably benign
R1438:Eftud2 UTSW 11 102,750,868 (GRCm39) missense probably damaging 1.00
R1520:Eftud2 UTSW 11 102,730,266 (GRCm39) missense probably damaging 1.00
R1569:Eftud2 UTSW 11 102,745,597 (GRCm39) splice site probably benign
R2270:Eftud2 UTSW 11 102,755,607 (GRCm39) missense probably damaging 1.00
R3500:Eftud2 UTSW 11 102,735,006 (GRCm39) missense probably damaging 1.00
R3686:Eftud2 UTSW 11 102,735,027 (GRCm39) missense probably damaging 1.00
R3687:Eftud2 UTSW 11 102,735,027 (GRCm39) missense probably damaging 1.00
R3688:Eftud2 UTSW 11 102,735,027 (GRCm39) missense probably damaging 1.00
R3808:Eftud2 UTSW 11 102,732,289 (GRCm39) splice site probably null
R3892:Eftud2 UTSW 11 102,737,013 (GRCm39) missense probably damaging 0.99
R4003:Eftud2 UTSW 11 102,750,936 (GRCm39) missense possibly damaging 0.51
R4091:Eftud2 UTSW 11 102,730,242 (GRCm39) splice site probably null
R4794:Eftud2 UTSW 11 102,761,003 (GRCm39) missense probably benign 0.14
R4841:Eftud2 UTSW 11 102,745,640 (GRCm39) missense probably damaging 1.00
R4842:Eftud2 UTSW 11 102,745,640 (GRCm39) missense probably damaging 1.00
R5151:Eftud2 UTSW 11 102,758,670 (GRCm39) critical splice donor site probably null
R5208:Eftud2 UTSW 11 102,732,011 (GRCm39) missense probably damaging 1.00
R6199:Eftud2 UTSW 11 102,730,883 (GRCm39) missense probably damaging 1.00
R6357:Eftud2 UTSW 11 102,755,606 (GRCm39) missense probably damaging 1.00
R6720:Eftud2 UTSW 11 102,729,449 (GRCm39) nonsense probably null
R7886:Eftud2 UTSW 11 102,730,934 (GRCm39) missense probably damaging 1.00
R8017:Eftud2 UTSW 11 102,734,174 (GRCm39) critical splice donor site probably null
R8019:Eftud2 UTSW 11 102,734,174 (GRCm39) critical splice donor site probably null
R8139:Eftud2 UTSW 11 102,758,685 (GRCm39) missense probably benign 0.04
R8431:Eftud2 UTSW 11 102,737,062 (GRCm39) missense probably benign 0.08
R8545:Eftud2 UTSW 11 102,731,097 (GRCm39) missense probably damaging 1.00
R8676:Eftud2 UTSW 11 102,759,447 (GRCm39) missense probably damaging 1.00
R9089:Eftud2 UTSW 11 102,759,971 (GRCm39) missense probably benign
R9173:Eftud2 UTSW 11 102,734,242 (GRCm39) missense probably damaging 1.00
R9277:Eftud2 UTSW 11 102,750,855 (GRCm39) missense probably damaging 1.00
R9313:Eftud2 UTSW 11 102,730,262 (GRCm39) missense probably benign 0.03
R9604:Eftud2 UTSW 11 102,737,056 (GRCm39) missense probably benign 0.11
R9664:Eftud2 UTSW 11 102,759,422 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACTGAGCTACCTTTCAGCCC -3'
(R):5'- GGTTAAAGCTGTTTCCTGTCCC -3'

Sequencing Primer
(F):5'- CCTTCAGAACTAGGTGTCAACAGTG -3'
(R):5'- AAAGCTGTTTCCTGTCCCCTCTG -3'
Posted On 2019-10-24