Incidental Mutation 'R8676:Eftud2'
ID 661404
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 068531-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8676 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 102729299-102771811 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 102759447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 152 (T152M)
Ref Sequence ENSEMBL: ENSMUSP00000102675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021306] [ENSMUST00000107060] [ENSMUST00000138483] [ENSMUST00000173679]
AlphaFold O08810
Predicted Effect probably damaging
Transcript: ENSMUST00000021306
AA Change: T153M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929
AA Change: T153M

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 probably damaging
Transcript: ENSMUST00000107060
AA Change: T152M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929
AA Change: T152M

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: ENSMUST00000138483
Predicted Effect probably damaging
Transcript: ENSMUST00000173679
AA Change: T143M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134327
Gene: ENSMUSG00000020929
AA Change: T143M

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 93% (54/58)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 G A 4: 144,396,683 (GRCm39) R350C possibly damaging Het
Acsm3 T A 7: 119,374,392 (GRCm39) S281R probably damaging Het
Adipor2 G T 6: 119,340,447 (GRCm39) probably benign Het
Alk T C 17: 72,204,936 (GRCm39) S1079G probably damaging Het
Ankrd27 T C 7: 35,302,009 (GRCm39) probably null Het
Anxa6 C A 11: 54,892,108 (GRCm39) E283* probably null Het
Bnc2 T C 4: 84,194,550 (GRCm39) H858R possibly damaging Het
Btnl6 T C 17: 34,727,043 (GRCm39) S496G probably benign Het
Ccdc88a T C 11: 29,410,860 (GRCm39) S449P probably benign Het
Cdh23 A T 10: 60,246,689 (GRCm39) D916E probably damaging Het
Cfap43 A T 19: 47,736,456 (GRCm39) L1345H possibly damaging Het
Cyld A T 8: 89,456,138 (GRCm39) H396L probably benign Het
Cyp20a1 A G 1: 60,418,579 (GRCm39) T340A possibly damaging Het
Czib A G 4: 107,752,796 (GRCm39) N152D unknown Het
Dera A T 6: 137,807,202 (GRCm39) I217F probably damaging Het
Dnah11 A G 12: 118,154,539 (GRCm39) L247P probably damaging Het
Entrep1 T C 19: 23,965,858 (GRCm39) K214E probably damaging Het
Epb41l2 C T 10: 25,319,674 (GRCm39) T169M probably benign Het
Fam186a T C 15: 99,845,023 (GRCm39) D407G unknown Het
Gli3 T A 13: 15,889,619 (GRCm39) C578S probably damaging Het
Gm6408 A G 5: 146,419,237 (GRCm39) N84S probably benign Het
Heatr5a AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA 12: 51,934,702 (GRCm39) probably benign Het
Herc2 C A 7: 55,838,361 (GRCm39) T3296K probably damaging Het
Hnf4g A T 3: 3,708,133 (GRCm39) probably benign Het
Hyal4 C A 6: 24,755,826 (GRCm39) Q15K probably damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kcna3 A G 3: 106,943,908 (GRCm39) E57G probably damaging Het
Kcnc3 C A 7: 44,241,020 (GRCm39) D237E probably benign Het
Map3k8 A G 18: 4,343,137 (GRCm39) V130A probably benign Het
Mpp7 A G 18: 7,440,430 (GRCm39) probably null Het
Mtres1 A G 10: 43,408,933 (GRCm39) L70S probably benign Het
Myh13 T A 11: 67,233,311 (GRCm39) L610Q probably damaging Het
Or13p5 C A 4: 118,592,235 (GRCm39) P170T probably damaging Het
Or5ap2 T A 2: 85,680,246 (GRCm39) M150K probably benign Het
Or8b52 T C 9: 38,577,064 (GRCm39) I25M probably benign Het
Pcdhb5 A T 18: 37,454,129 (GRCm39) T170S probably benign Het
Polr3b T A 10: 84,516,251 (GRCm39) H626Q probably benign Het
Prkg1 A T 19: 31,742,146 (GRCm39) L26Q probably damaging Het
Prob1 T C 18: 35,787,039 (GRCm39) N405S possibly damaging Het
Proz T G 8: 13,123,630 (GRCm39) S300R probably damaging Het
Psg19 A G 7: 18,527,990 (GRCm39) I251T probably benign Het
Rcbtb1 T C 14: 59,467,401 (GRCm39) I413T possibly damaging Het
Rnf144b T A 13: 47,382,452 (GRCm39) Y103N probably damaging Het
Rspry1 G C 8: 95,358,747 (GRCm39) G194R probably benign Het
Scn2b A G 9: 45,036,917 (GRCm39) I142V probably damaging Het
Spata20 A T 11: 94,372,607 (GRCm39) L588H probably damaging Het
Stk32b T A 5: 37,614,503 (GRCm39) H335L probably benign Het
Taar4 A C 10: 23,836,801 (GRCm39) D137A possibly damaging Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,354,015 (GRCm39) probably benign Het
Tek A T 4: 94,738,074 (GRCm39) H708L probably benign Het
Tmem89 C T 9: 108,744,095 (GRCm39) L132F unknown Het
Ugt2b38 T C 5: 87,559,681 (GRCm39) I404V probably benign Het
Vmn1r16 C T 6: 57,299,814 (GRCm39) M269I probably benign Het
Vmn1r201 A G 13: 22,659,422 (GRCm39) K212R probably damaging Het
Vmn2r11 A C 5: 109,201,626 (GRCm39) F293V probably damaging Het
Zdhhc17 A T 10: 110,798,240 (GRCm39) probably benign Het
Zfp423 C A 8: 88,509,338 (GRCm39) M335I probably benign Het
Zfp74 T C 7: 29,634,079 (GRCm39) Y543C probably damaging Het
Zfp975 A T 7: 42,312,264 (GRCm39) S116R probably benign 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
R7604:Eftud2 UTSW 11 102,738,838 (GRCm39) missense possibly damaging 0.87
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
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'- GGGATCCCAAATGCAGAACG -3'
(R):5'- GTGTTAATCCTTTGCTGTCCCATAG -3'

Sequencing Primer
(F):5'- ATGCAGGTTAACATCCTCCATG -3'
(R):5'- AATCCTTTGCTGTCCCATAGTTCTC -3'
Posted On 2021-03-08