Incidental Mutation 'R0137:Eftud2'
ID 22056
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 038422-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0137 (G1)
Quality Score 183
Status Validated (trace)
Chromosome 11
Chromosomal Location 102729299-102771811 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102759443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 153 (H153Q)
Ref Sequence ENSEMBL: ENSMUSP00000102675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021306] [ENSMUST00000107060] [ENSMUST00000138483] [ENSMUST00000173679]
AlphaFold O08810
Predicted Effect possibly damaging
Transcript: ENSMUST00000021306
AA Change: H154Q

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929
AA Change: H154Q

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: H153Q

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929
AA Change: H153Q

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 noncoding transcript
Transcript: ENSMUST00000123833
Predicted Effect probably benign
Transcript: ENSMUST00000138483
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147368
Predicted Effect possibly damaging
Transcript: ENSMUST00000173679
AA Change: H144Q

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134327
Gene: ENSMUSG00000020929
AA Change: H144Q

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173974
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 91.8%
Validation Efficiency 95% (94/99)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik A T 8: 120,878,115 (GRCm39) H190L possibly damaging Het
Adap1 A G 5: 139,278,976 (GRCm39) probably benign Het
Adgra3 C T 5: 50,121,182 (GRCm39) probably benign Het
Adgre5 A T 8: 84,451,527 (GRCm39) V527E probably damaging Het
Anapc5 A T 5: 122,938,695 (GRCm39) Y360N probably damaging Het
Angptl6 C A 9: 20,789,683 (GRCm39) A70S probably benign Het
Ankdd1a C A 9: 65,417,610 (GRCm39) K137N probably null Het
Ccdc170 T C 10: 4,496,950 (GRCm39) probably benign Het
Ccdc51 A G 9: 108,920,698 (GRCm39) E195G probably damaging Het
Cdc37 A T 9: 21,053,426 (GRCm39) C204S possibly damaging Het
Cfap36 T C 11: 29,172,431 (GRCm39) probably benign Het
Col6a2 C A 10: 76,432,259 (GRCm39) G965C probably damaging Het
Csn1s2a G A 5: 87,926,826 (GRCm39) S53N possibly damaging Het
Dab2ip T C 2: 35,582,388 (GRCm39) probably null Het
Dhx58 A G 11: 100,587,823 (GRCm39) V578A probably damaging Het
Diaph1 G T 18: 38,024,902 (GRCm39) Q520K unknown Het
Eefsec C A 6: 88,274,631 (GRCm39) K444N probably benign Het
Eif5b T G 1: 38,058,324 (GRCm39) S209A probably benign Het
Exosc2 T A 2: 31,562,497 (GRCm39) Y46N probably damaging Het
F2 C T 2: 91,456,075 (GRCm39) G562D probably damaging Het
Fgf23 G A 6: 127,057,128 (GRCm39) G148D probably damaging Het
Fmnl3 G C 15: 99,220,619 (GRCm39) probably benign Het
Fstl5 G A 3: 76,614,786 (GRCm39) G179R probably damaging Het
Garre1 A T 7: 33,938,644 (GRCm39) W246R probably damaging Het
Gart T A 16: 91,422,282 (GRCm39) Q745L probably benign Het
Gmeb1 T A 4: 131,959,419 (GRCm39) M212L probably benign Het
Gpaa1 T C 15: 76,218,981 (GRCm39) Y548H probably damaging Het
Gpatch1 T C 7: 34,986,667 (GRCm39) E763G probably damaging Het
Grm8 T A 6: 27,762,389 (GRCm39) I279F probably damaging Het
Hcls1 T A 16: 36,771,536 (GRCm39) H147Q probably damaging Het
Hpcal1 A C 12: 17,836,389 (GRCm39) D73A probably damaging Het
Il22ra1 T C 4: 135,478,317 (GRCm39) S463P probably benign Het
Itgbl1 G A 14: 124,078,098 (GRCm39) probably null Het
Izumo3 G T 4: 92,035,437 (GRCm39) probably benign Het
Kcna5 A T 6: 126,510,346 (GRCm39) L594Q probably damaging Het
Kif13a A T 13: 46,918,079 (GRCm39) D409E probably benign Het
Kif9 A T 9: 110,314,106 (GRCm39) I39F probably damaging Het
Klri2 C T 6: 129,709,171 (GRCm39) R227H possibly damaging Het
Lamc3 G A 2: 31,798,628 (GRCm39) G445S probably damaging Het
Lctl A G 9: 64,024,980 (GRCm39) probably benign Het
Lrp4 T C 2: 91,325,327 (GRCm39) L1384P probably damaging Het
Mcm9 G A 10: 53,439,526 (GRCm39) S549L possibly damaging Het
Ms4a15 G A 19: 10,956,697 (GRCm39) probably benign Het
Mtor T C 4: 148,555,081 (GRCm39) V901A possibly damaging Het
Nckap1l A T 15: 103,390,391 (GRCm39) I721F probably benign Het
Nemp2 T C 1: 52,684,588 (GRCm39) V298A probably benign Het
Npc1l1 T A 11: 6,178,148 (GRCm39) K421* probably null Het
Npr1 C T 3: 90,363,244 (GRCm39) V879M probably damaging Het
Odad4 A G 11: 100,454,394 (GRCm39) E393G probably damaging Het
Or2ad1 A G 13: 21,326,336 (GRCm39) V297A possibly damaging Het
Or51q1c A G 7: 103,652,709 (GRCm39) T82A probably benign Het
Osgin1 A T 8: 120,169,219 (GRCm39) I39F possibly damaging Het
Phip G C 9: 82,809,244 (GRCm39) probably null Het
Pkdrej G T 15: 85,705,768 (GRCm39) P56Q possibly damaging Het
Plcxd2 A G 16: 45,800,889 (GRCm39) Y112H probably damaging Het
Plekha1 C T 7: 130,499,176 (GRCm39) T155M probably damaging Het
Prkdc T C 16: 15,558,196 (GRCm39) probably null Het
Prss1 A G 6: 41,439,495 (GRCm39) H76R probably damaging Het
Psg23 T C 7: 18,348,558 (GRCm39) D83G probably benign Het
Ptprd T A 4: 76,055,140 (GRCm39) Q196L probably benign Het
Ranbp3l A T 15: 9,063,067 (GRCm39) H292L probably damaging Het
Ranbp6 T C 19: 29,787,097 (GRCm39) E1085G probably benign Het
Rccd1 A G 7: 79,970,326 (GRCm39) V97A possibly damaging Het
Rchy1 T C 5: 92,105,458 (GRCm39) S48G probably benign Het
Rnmt G A 18: 68,446,771 (GRCm39) M265I probably benign Het
Robo3 A T 9: 37,336,640 (GRCm39) M376K probably benign Het
Rrp12 T C 19: 41,862,289 (GRCm39) D898G probably benign Het
Scg3 A T 9: 75,570,462 (GRCm39) probably benign Het
Sec31b A T 19: 44,522,821 (GRCm39) M57K probably damaging Het
Slc17a6 A C 7: 51,315,892 (GRCm39) I387L probably benign Het
Speer4a1 T A 5: 26,240,982 (GRCm39) Q170L possibly damaging Het
Srsf9 A G 5: 115,470,260 (GRCm39) D146G possibly damaging Het
Ss18 A G 18: 14,788,200 (GRCm39) M90T probably damaging Het
Syna A T 5: 134,588,314 (GRCm39) F212I possibly damaging Het
Tex54 A G 19: 8,718,221 (GRCm39) probably benign Het
Thsd1 A G 8: 22,733,055 (GRCm39) H34R probably damaging Het
Tmem143 T C 7: 45,547,086 (GRCm39) I84T probably benign Het
Trim50 T C 5: 135,395,487 (GRCm39) V281A probably damaging Het
Trp53i11 C A 2: 93,029,696 (GRCm39) probably benign Het
Ttll4 C T 1: 74,718,851 (GRCm39) T234I possibly damaging Het
Ttyh1 A T 7: 4,127,719 (GRCm39) I136F possibly damaging Het
Ube2f T C 1: 91,189,976 (GRCm39) probably benign Het
Vcl T A 14: 21,037,083 (GRCm39) L227* probably null Het
Vmn1r222 A C 13: 23,416,974 (GRCm39) C80G probably damaging Het
Vps13b G T 15: 35,926,365 (GRCm39) A3889S probably benign Het
Vps8 T C 16: 21,323,136 (GRCm39) probably benign Het
Zbtb44 A G 9: 30,978,006 (GRCm39) Y422C probably damaging Het
Zfp180 A G 7: 23,805,158 (GRCm39) S526G possibly damaging Het
Zfp518a A C 19: 40,904,310 (GRCm39) E1413A probably damaging Het
Zfp629 T A 7: 127,210,858 (GRCm39) Y317F probably damaging Het
Zfp804b T C 5: 6,820,534 (GRCm39) E843G 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
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
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'- TATTGCACTGAGAGTTGCCGCC -3'
(R):5'- CATCCACTTACATGCCTGAGCCTTG -3'

Sequencing Primer
(F):5'- ACAGTTGGCCTTGTTCACAG -3'
(R):5'- AACCTTTTATTTCCTGAGGGAGGAC -3'
Posted On 2013-04-12