Incidental Mutation 'R1569:Eftud2'
ID 177135
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 039608-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1569 (G1)
Quality Score 165
Status Validated
Chromosome 11
Chromosomal Location 102729299-102771811 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 102745597 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 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
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.3%
Validation Efficiency 96% (72/75)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,056,427 (GRCm39) K166* probably null Het
Abca2 T A 2: 25,329,197 (GRCm39) N1012K probably benign Het
Ahnak T C 19: 8,981,458 (GRCm39) V914A possibly damaging Het
Akap1 T A 11: 88,724,006 (GRCm39) M833L probably benign Het
Atp2b1 T A 10: 98,823,188 (GRCm39) H249Q probably benign Het
Atp6v0a4 A G 6: 38,027,560 (GRCm39) V750A probably damaging Het
Car6 T C 4: 150,285,499 (GRCm39) Y23C probably damaging Het
Celsr3 A G 9: 108,706,267 (GRCm39) T917A probably damaging Het
Clmn C A 12: 104,747,340 (GRCm39) D736Y probably damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dennd4c G A 4: 86,704,331 (GRCm39) R282H possibly damaging Het
Dsg1b T A 18: 20,529,537 (GRCm39) N327K probably damaging Het
Esyt1 G T 10: 128,354,863 (GRCm39) S512R possibly damaging Het
Fam124b T C 1: 80,190,852 (GRCm39) Y177C possibly damaging Het
Fbxl5 A T 5: 43,922,803 (GRCm39) I205K probably damaging Het
Fcrl1 A G 3: 87,292,012 (GRCm39) Y57C probably damaging Het
Gabpb1 A T 2: 126,494,171 (GRCm39) D151E probably benign Het
Gcc2 C T 10: 58,105,993 (GRCm39) L310F probably benign Het
Hsd11b1 C G 1: 192,922,635 (GRCm39) E141Q probably damaging Het
Htr1b A G 9: 81,514,340 (GRCm39) V89A probably benign Het
Ibsp A T 5: 104,458,017 (GRCm39) T185S probably damaging Het
Igfn1 T C 1: 135,896,771 (GRCm39) D1265G probably benign Het
Ints9 T C 14: 65,217,571 (GRCm39) Y33H possibly damaging Het
Kif1a A T 1: 92,986,532 (GRCm39) probably benign Het
Lama1 A T 17: 68,087,613 (GRCm39) probably null Het
Lbp A T 2: 158,161,607 (GRCm39) D223V probably damaging Het
Lck C A 4: 129,449,449 (GRCm39) D283Y probably damaging Het
Lcmt2 A G 2: 120,970,309 (GRCm39) F258S probably damaging Het
Lsg1 G T 16: 30,399,823 (GRCm39) probably null Het
Maip1 T C 1: 57,452,554 (GRCm39) probably benign Het
Mark3 T G 12: 111,600,180 (GRCm39) I465S probably benign Het
Marveld2 C T 13: 100,737,506 (GRCm39) V128I probably benign Het
Mcm3ap A G 10: 76,319,022 (GRCm39) H750R possibly damaging Het
Mdn1 A T 4: 32,723,501 (GRCm39) Q2479L probably null Het
Met A T 6: 17,531,503 (GRCm39) K594* probably null Het
Pak2 G T 16: 31,856,113 (GRCm39) S241R probably damaging Het
Plxna4 T C 6: 32,162,410 (GRCm39) I1368V possibly damaging Het
Pparg T C 6: 115,416,960 (GRCm39) I51T probably benign Het
Ppp1r18 A G 17: 36,179,595 (GRCm39) E62G probably damaging Het
Prkag2 T C 5: 25,152,475 (GRCm39) S86G possibly damaging Het
Rabgap1l A T 1: 160,529,960 (GRCm39) I347K probably benign Het
Rdh1 A T 10: 127,598,941 (GRCm39) M141L probably benign Het
Rfx2 A T 17: 57,111,326 (GRCm39) I82N possibly damaging Het
Sh2b2 G A 5: 136,260,589 (GRCm39) A209V possibly damaging Het
Sh3d19 G A 3: 86,033,951 (GRCm39) R768H possibly damaging Het
Sh3rf1 C T 8: 61,837,896 (GRCm39) P814S probably damaging Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Slc15a2 T C 16: 36,576,745 (GRCm39) T430A probably benign Het
Slc17a3 A T 13: 24,039,591 (GRCm39) I250F probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spg11 A G 2: 121,932,187 (GRCm39) S552P probably damaging Het
Srpk2 A G 5: 23,719,024 (GRCm39) I597T probably damaging Het
St6galnac1 T G 11: 116,660,097 (GRCm39) N72T possibly damaging Het
Tecpr2 T A 12: 110,911,321 (GRCm39) probably null Het
Tmem208 T A 8: 106,061,462 (GRCm39) C163S possibly damaging Het
Tpte T C 8: 22,835,047 (GRCm39) V401A probably damaging Het
Trhde A G 10: 114,282,093 (GRCm39) W795R possibly damaging Het
Trpm3 G A 19: 22,866,809 (GRCm39) probably null Het
Ttn T A 2: 76,626,063 (GRCm39) T14999S possibly damaging Het
Txndc2 A T 17: 65,945,921 (GRCm39) N85K probably benign Het
Yes1 A G 5: 32,810,507 (GRCm39) Y192C probably damaging Het
Zan A G 5: 137,427,392 (GRCm39) V2415A unknown Het
Zfp410 T A 12: 84,379,726 (GRCm39) C311S probably damaging Het
Zfp51 A T 17: 21,676,642 (GRCm39) M38L probably benign Het
Zfp560 A T 9: 20,260,011 (GRCm39) C284S possibly damaging Het
Zfp808 C T 13: 62,320,714 (GRCm39) R648* probably null Het
Zfp976 G T 7: 42,262,806 (GRCm39) H344N probably 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
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
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'- tcccctacccacccaTAAAAGGCT -3'
(R):5'- TGCTCTTGGGACTCCATTTGGAAAC -3'

Sequencing Primer
(F):5'- ggaaccaatacccacataacaag -3'
(R):5'- TGTCTTGGAATTTAAGCAATGTACCC -3'
Posted On 2014-04-24