Incidental Mutation 'IGL02165:Eftud2'
ID 282684
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eftud2
Ensembl Gene ENSMUSG00000020929
Gene Name elongation factor Tu GTP binding domain containing 2
Synonyms 116kDa, Snrp116, U5-116kD
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02165
Quality Score
Status
Chromosome 11
Chromosomal Location 102729299-102771811 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 102742573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021306] [ENSMUST00000107060] [ENSMUST00000173679]
AlphaFold O08810
Predicted Effect probably benign
Transcript: ENSMUST00000021306
SMART Domains Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929

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
SMART Domains Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929

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: ENSMUST00000131678
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141273
Predicted Effect probably benign
Transcript: ENSMUST00000173679
SMART Domains Protein: ENSMUSP00000134327
Gene: ENSMUSG00000020929

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
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T A 19: 31,904,586 (GRCm39) M199K possibly damaging Het
Abo C A 2: 26,733,441 (GRCm39) V255L probably damaging Het
Alas1 A T 9: 106,115,982 (GRCm39) M344K probably damaging Het
Ap1m1 A G 8: 73,003,653 (GRCm39) I118V probably benign Het
Ap5m1 A T 14: 49,316,185 (GRCm39) I252F possibly damaging Het
Arhgef2 G A 3: 88,553,527 (GRCm39) R886H probably damaging Het
Atp13a4 T C 16: 29,252,828 (GRCm39) E706G probably damaging Het
Baz2a C A 10: 127,955,218 (GRCm39) A775E probably benign Het
C3 A T 17: 57,532,092 (GRCm39) F210I probably benign Het
Casq1 A G 1: 172,040,948 (GRCm39) L280P probably damaging Het
Cebpz A G 17: 79,229,598 (GRCm39) F919L probably damaging Het
Commd1b A T 11: 22,932,072 (GRCm39) probably benign Het
Dclre1c T A 2: 3,451,418 (GRCm39) probably benign Het
Dsc3 T G 18: 20,116,709 (GRCm39) M276L probably benign Het
Dync2i2 T C 2: 29,922,172 (GRCm39) T430A probably benign Het
Elfn2 T A 15: 78,557,618 (GRCm39) T310S probably benign Het
Ep300 A G 15: 81,525,592 (GRCm39) K1472R probably benign Het
Fbxl2 T C 9: 113,847,099 (GRCm39) D8G probably benign Het
Galnt5 T A 2: 57,888,877 (GRCm39) M159K probably benign Het
Hars2 T A 18: 36,916,447 (GRCm39) M1K probably null Het
Hk1 T C 10: 62,117,667 (GRCm39) T619A probably damaging Het
Ifi44 C T 3: 151,455,067 (GRCm39) V53M probably damaging Het
Ippk T A 13: 49,600,011 (GRCm39) V339D possibly damaging Het
Kcnma1 G T 14: 23,387,035 (GRCm39) N875K possibly damaging Het
Kdm5a T A 6: 120,392,251 (GRCm39) V991E probably damaging Het
Larp6 A G 9: 60,620,595 (GRCm39) E36G probably benign Het
Lonp2 A T 8: 87,435,654 (GRCm39) D210V probably damaging Het
Lrrc4c G A 2: 97,459,378 (GRCm39) M1I probably null Het
Mmp2 A G 8: 93,559,847 (GRCm39) K270R probably null Het
Nexmif C T X: 103,128,360 (GRCm39) V1186I probably benign Het
Or11g2 A G 14: 50,856,468 (GRCm39) Y263C probably damaging Het
Or1x2 A T 11: 50,918,470 (GRCm39) I214F probably benign Het
Pld2 T C 11: 70,446,503 (GRCm39) L763P probably damaging Het
Pold1 A T 7: 44,187,484 (GRCm39) F644L probably damaging Het
Prrc2b T C 2: 32,104,652 (GRCm39) S1377P probably damaging Het
Rps18-ps6 T G 13: 97,896,648 (GRCm39) K150T probably benign Het
Rttn A G 18: 89,061,165 (GRCm39) D1111G probably benign Het
Slc27a5 A G 7: 12,728,875 (GRCm39) V130A probably damaging Het
Slfn8 T C 11: 82,908,022 (GRCm39) R174G probably benign Het
Slitrk6 G A 14: 110,989,249 (GRCm39) P153S probably benign Het
Sorcs3 T C 19: 48,642,511 (GRCm39) I388T probably benign Het
Star A T 8: 26,302,843 (GRCm39) T262S possibly damaging Het
Strn A T 17: 78,995,049 (GRCm39) W2R probably damaging Het
Tnmd T C X: 132,763,701 (GRCm39) S172P probably damaging Het
Togaram2 A G 17: 72,004,861 (GRCm39) K305R probably benign Het
Trhde C A 10: 114,428,066 (GRCm39) W410L probably damaging Het
Trim5 C T 7: 103,928,566 (GRCm39) R125Q probably damaging Het
Unc45b C T 11: 82,831,007 (GRCm39) probably benign Het
Vmn1r80 T A 7: 11,927,379 (GRCm39) M163K probably benign Het
Wnk4 C A 11: 101,166,117 (GRCm39) probably benign Het
Zfp277 T A 12: 40,365,802 (GRCm39) I430F possibly damaging Het
Zfp566 A T 7: 29,777,255 (GRCm39) C309S probably damaging Het
Zfp740 T G 15: 102,121,109 (GRCm39) F141V possibly damaging Het
Zfp87 T A 13: 67,665,989 (GRCm39) I158F probably damaging Het
Zswim3 C A 2: 164,663,035 (GRCm39) A505D possibly damaging 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
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
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
Posted On 2015-04-16