Incidental Mutation 'IGL01448:Eftud2'
ID 84540
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 # IGL01448
Quality Score
Status
Chromosome 11
Chromosomal Location 102729299-102771811 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 102756389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021306] [ENSMUST00000107060] [ENSMUST00000138483] [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: ENSMUST00000123833
Predicted Effect probably benign
Transcript: ENSMUST00000138483
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147368
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
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik A T 2: 130,247,767 (GRCm39) E75D possibly damaging Het
1700084J12Rik A G 15: 33,405,779 (GRCm39) probably benign Het
2610303G11Rik T A 9: 98,068,762 (GRCm39) noncoding transcript Het
4931414P19Rik T C 14: 54,823,417 (GRCm39) D320G possibly damaging Het
Adamts6 G A 13: 104,433,672 (GRCm39) E34K probably damaging Het
Alms1 T A 6: 85,654,881 (GRCm39) N3142K possibly damaging Het
Anapc7 G A 5: 122,566,276 (GRCm39) A62T probably damaging Het
Atp8b3 G A 10: 80,356,256 (GRCm39) P1152L probably benign Het
Cc2d2a C T 5: 43,841,527 (GRCm39) T181I possibly damaging Het
Celsr2 A G 3: 108,300,555 (GRCm39) L2835P probably damaging Het
Ctns A T 11: 73,079,548 (GRCm39) V99D possibly damaging Het
Dchs1 T C 7: 105,421,134 (GRCm39) R429G probably damaging Het
Ddx11 T C 17: 66,441,132 (GRCm39) V218A probably damaging Het
Erich1 G T 8: 14,128,853 (GRCm39) T29N possibly damaging Het
Exosc8 T C 3: 54,636,686 (GRCm39) E215G probably damaging Het
Fam184a G T 10: 53,575,045 (GRCm39) A188E probably benign Het
Fign A G 2: 63,810,032 (GRCm39) S413P probably damaging Het
Fkbp6 A G 5: 135,378,550 (GRCm39) S33P probably damaging Het
Glb1 A G 9: 114,279,745 (GRCm39) probably benign Het
H2-Q1 T C 17: 35,542,437 (GRCm39) probably benign Het
Helz2 T C 2: 180,875,770 (GRCm39) T1575A probably damaging Het
Il18r1 A G 1: 40,513,890 (GRCm39) E32G probably damaging Het
Ints5 C T 19: 8,872,851 (GRCm39) P270L possibly damaging Het
Itga7 G T 10: 128,785,337 (GRCm39) E847* probably null Het
Kcns3 A C 12: 11,141,644 (GRCm39) S352A possibly damaging Het
Kiz A G 2: 146,705,721 (GRCm39) K94E probably benign Het
Lin7b C T 7: 45,018,624 (GRCm39) V12M probably damaging Het
Myo18b A T 5: 112,959,570 (GRCm39) I1409N probably damaging Het
Myo5b A G 18: 74,777,161 (GRCm39) H407R probably damaging Het
Nelfa T C 5: 34,056,146 (GRCm39) T506A probably damaging Het
Or10p21 A G 10: 128,847,729 (GRCm39) T192A probably damaging Het
Or4d5 A T 9: 40,012,378 (GRCm39) M136K probably damaging Het
Or5p72 T A 7: 108,022,235 (GRCm39) Y152* probably null Het
Or6c69 A G 10: 129,748,114 (GRCm39) I11T possibly damaging Het
Pclo A C 5: 14,726,408 (GRCm39) probably benign Het
Pes1 G A 11: 3,927,979 (GRCm39) E544K possibly damaging Het
Rabgap1l A G 1: 160,568,315 (GRCm39) probably benign Het
Rapgef2 T C 3: 78,976,244 (GRCm39) M1521V probably benign Het
Rapgef2 C T 3: 79,011,269 (GRCm39) probably null Het
Reln A G 5: 22,245,403 (GRCm39) V735A probably benign Het
Slc2a4 A G 11: 69,835,902 (GRCm39) S316P possibly damaging Het
Smarce1 C T 11: 99,101,013 (GRCm39) G373E possibly damaging Het
Spata31d1a T A 13: 59,849,373 (GRCm39) R918S probably benign Het
St3gal4 T C 9: 34,963,627 (GRCm39) K227R probably benign Het
Stra6l T A 4: 45,864,864 (GRCm39) probably null Het
Stxbp5l T C 16: 37,036,341 (GRCm39) I425V probably damaging Het
Tcaf2 T C 6: 42,607,262 (GRCm39) T231A probably benign Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tnks A G 8: 35,307,136 (GRCm39) Y1138H probably damaging Het
Vezt T A 10: 93,832,719 (GRCm39) I231F probably damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Zbed3 A G 13: 95,473,142 (GRCm39) K189E possibly damaging Het
Zfp512b T C 2: 181,229,578 (GRCm39) T625A possibly damaging Het
Zfp827 A T 8: 79,787,362 (GRCm39) Q176L possibly damaging Het
Other mutations in Eftud2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-11-11