Incidental Mutation 'IGL01868:Eftud2'
ID178616
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eftud2
Ensembl Gene ENSMUSG00000020929
Gene Nameelongation factor Tu GTP binding domain containing 2
Synonyms116kDa, Snrp116, U5-116kD
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.948) question?
Stock #IGL01868
Quality Score
Status
Chromosome11
Chromosomal Location102838473-102880985 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 102869127 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 132 (V132I)
Ref Sequence ENSEMBL: ENSMUSP00000134327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021306] [ENSMUST00000107060] [ENSMUST00000138483] [ENSMUST00000173679]
Predicted Effect probably benign
Transcript: ENSMUST00000021306
AA Change: V132I

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929
AA Change: V132I

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 benign
Transcript: ENSMUST00000107060
AA Change: V131I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929
AA Change: V131I

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 probably benign
Transcript: ENSMUST00000173679
AA Change: V132I

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000134327
Gene: ENSMUSG00000020929
AA Change: V132I

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: ENSMUST00000173974
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181125
Coding Region Coverage
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G A 18: 67,414,148 T569M possibly damaging Het
Aldh1l1 A T 6: 90,583,230 K620* probably null Het
Amdhd2 G T 17: 24,157,530 T346K probably damaging Het
Arhgap44 T C 11: 65,012,078 D521G probably damaging Het
Ccdc146 C A 5: 21,333,054 A91S probably damaging Het
Ccdc187 C A 2: 26,280,948 R506L probably benign Het
Cd37 T C 7: 45,236,179 Q128R probably benign Het
Cdh22 T A 2: 165,157,358 M185L probably damaging Het
Cib2 A T 9: 54,548,475 N68K probably damaging Het
Ddx46 C T 13: 55,639,870 R96* probably null Het
Dnajc13 A T 9: 104,162,745 H2050Q possibly damaging Het
Duox1 A G 2: 122,338,407 H1172R probably benign Het
Fcrl5 G A 3: 87,443,707 D87N possibly damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm14548 G A 7: 3,897,175 Q143* probably null Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Kat6a T C 8: 22,926,455 F660L probably damaging Het
Lipo2 T C 19: 33,730,838 M259V probably benign Het
Lrrcc1 T A 3: 14,554,357 L90* probably null Het
Lsm1 G A 8: 25,793,793 probably null Het
Luzp1 T C 4: 136,542,737 I757T probably damaging Het
Micall1 A G 15: 79,115,060 I76V probably benign Het
Mmp21 A T 7: 133,675,914 D394E probably damaging Het
Mtfr1l T C 4: 134,530,707 D68G probably null Het
Necab2 A G 8: 119,462,576 S162G probably benign Het
Olfr1186 T C 2: 88,525,715 V44A possibly damaging Het
Olfr429 C T 1: 174,089,370 T110I possibly damaging Het
Olfr64 G A 7: 103,893,376 R120* probably null Het
Olfr96 A T 17: 37,225,152 Q9L probably benign Het
Pde7b A T 10: 20,407,165 C376* probably null Het
Plcb2 A G 2: 118,709,590 L1074P probably damaging Het
Plcb2 G T 2: 118,711,387 T914N probably benign Het
Prph C A 15: 99,056,343 D207E probably damaging Het
Prrxl1 C A 14: 32,608,377 F150L probably damaging Het
Rbp4 C A 19: 38,124,520 R37L probably damaging Het
Ryr3 T C 2: 112,803,158 probably benign Het
Sardh T G 2: 27,227,147 Q496P probably benign Het
Serpina1f T A 12: 103,693,445 N193Y probably benign Het
Slc10a7 G A 8: 78,697,336 probably null Het
Spg7 T C 8: 123,090,236 probably null Het
Sphkap T C 1: 83,280,399 probably null Het
Tas2r121 T A 6: 132,700,272 I246L probably benign Het
Tbc1d9b T C 11: 50,161,633 F889S probably damaging Het
Tcp10a T C 17: 7,329,864 M140T possibly damaging Het
Tctn2 G A 5: 124,616,528 noncoding transcript Het
Tfap2b G T 1: 19,214,282 R138L probably damaging Het
Tnrc18 T C 5: 142,771,812 T985A unknown Het
Treml1 G A 17: 48,366,007 V211I probably benign Het
Ubr4 C T 4: 139,412,678 Q1191* probably null Het
Vim G A 2: 13,578,438 R217H possibly damaging Het
Vmn2r77 A G 7: 86,803,016 D468G probably benign Het
Vmn2r98 G T 17: 19,066,286 V349F probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vwa7 A T 17: 35,021,259 E401V probably null Het
Zfp119b C A 17: 55,939,866 V75L possibly damaging Het
Zfp287 C T 11: 62,715,257 E275K probably benign Het
Other mutations in Eftud2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01448:Eftud2 APN 11 102865563 splice site probably benign
IGL01765:Eftud2 APN 11 102839256 missense probably damaging 0.99
IGL02161:Eftud2 APN 11 102854876 splice site probably benign
IGL02165:Eftud2 APN 11 102851747 splice site probably benign
IGL02218:Eftud2 APN 11 102870213 missense possibly damaging 0.46
IGL02386:Eftud2 APN 11 102851754 splice site probably null
IGL02664:Eftud2 APN 11 102841712 missense probably damaging 1.00
IGL02677:Eftud2 APN 11 102846614 missense probably damaging 1.00
IGL02792:Eftud2 APN 11 102870256 splice site probably benign
IGL02870:Eftud2 APN 11 102862626 missense probably damaging 0.97
IGL03131:Eftud2 APN 11 102870183 missense probably damaging 1.00
R0137:Eftud2 UTSW 11 102868617 missense possibly damaging 0.94
R0244:Eftud2 UTSW 11 102864725 missense probably damaging 0.97
R0358:Eftud2 UTSW 11 102864801 splice site probably benign
R0463:Eftud2 UTSW 11 102864771 missense probably damaging 1.00
R0511:Eftud2 UTSW 11 102844222 missense probably damaging 1.00
R0525:Eftud2 UTSW 11 102839253 missense probably damaging 1.00
R0586:Eftud2 UTSW 11 102846620 missense probably damaging 1.00
R0751:Eftud2 UTSW 11 102839253 missense probably damaging 1.00
R1034:Eftud2 UTSW 11 102849184 missense probably benign
R1079:Eftud2 UTSW 11 102840044 nonsense probably null
R1208:Eftud2 UTSW 11 102864766 missense probably benign 0.22
R1208:Eftud2 UTSW 11 102864766 missense probably benign 0.22
R1220:Eftud2 UTSW 11 102851747 splice site probably benign
R1438:Eftud2 UTSW 11 102860042 missense probably damaging 1.00
R1520:Eftud2 UTSW 11 102839440 missense probably damaging 1.00
R1569:Eftud2 UTSW 11 102854771 splice site probably benign
R2270:Eftud2 UTSW 11 102864781 missense probably damaging 1.00
R3500:Eftud2 UTSW 11 102844180 missense probably damaging 1.00
R3686:Eftud2 UTSW 11 102844201 missense probably damaging 1.00
R3687:Eftud2 UTSW 11 102844201 missense probably damaging 1.00
R3688:Eftud2 UTSW 11 102844201 missense probably damaging 1.00
R3808:Eftud2 UTSW 11 102841463 intron probably null
R3892:Eftud2 UTSW 11 102846187 missense probably damaging 0.99
R4003:Eftud2 UTSW 11 102860110 missense possibly damaging 0.51
R4091:Eftud2 UTSW 11 102839416 splice site probably null
R4794:Eftud2 UTSW 11 102870177 missense probably benign 0.14
R4841:Eftud2 UTSW 11 102854814 missense probably damaging 1.00
R4842:Eftud2 UTSW 11 102854814 missense probably damaging 1.00
R5151:Eftud2 UTSW 11 102867844 critical splice donor site probably null
R5208:Eftud2 UTSW 11 102841185 missense probably damaging 1.00
R6199:Eftud2 UTSW 11 102840057 missense probably damaging 1.00
R6357:Eftud2 UTSW 11 102864780 missense probably damaging 1.00
R6720:Eftud2 UTSW 11 102838623 nonsense probably null
Posted On2014-05-07