Incidental Mutation 'R0525:Eftud2'
ID 48864
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 038718-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0525 (G1)
Quality Score 206
Status Validated
Chromosome 11
Chromosomal Location 102729299-102771811 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102730079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 897 (V897D)
Ref Sequence ENSEMBL: ENSMUSP00000134327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021302] [ENSMUST00000021306] [ENSMUST00000107060] [ENSMUST00000107072] [ENSMUST00000107073] [ENSMUST00000173679]
AlphaFold O08810
Predicted Effect probably benign
Transcript: ENSMUST00000021302
SMART Domains Protein: ENSMUSP00000021302
Gene: ENSMUSG00000020928

DomainStartEndE-ValueType
Pfam:HIG_1_N 25 79 1.5e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000021306
AA Change: V907D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929
AA Change: V907D

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 damaging
Transcript: ENSMUST00000107060
AA Change: V906D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929
AA Change: V906D

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 probably benign
Transcript: ENSMUST00000107072
SMART Domains Protein: ENSMUSP00000102687
Gene: ENSMUSG00000020928

DomainStartEndE-ValueType
Pfam:HIG_1_N 25 79 1.5e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107073
SMART Domains Protein: ENSMUSP00000102688
Gene: ENSMUSG00000020928

DomainStartEndE-ValueType
Pfam:HIG_1_N 25 79 1.5e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132543
SMART Domains Protein: ENSMUSP00000133732
Gene: ENSMUSG00000020929

DomainStartEndE-ValueType
Pfam:EFG_IV 1 65 2.9e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000173679
AA Change: V897D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134327
Gene: ENSMUSG00000020929
AA Change: V897D

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: ENSMUST00000143323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141273
Predicted Effect probably benign
Transcript: ENSMUST00000172611
SMART Domains Protein: ENSMUSP00000134316
Gene: ENSMUSG00000020929

DomainStartEndE-ValueType
low complexity region 85 98 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 100% (72/72)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933440M02Rik T A 7: 124,930,671 (GRCm39) noncoding transcript Het
A930002H24Rik A G 17: 64,170,642 (GRCm39) W49R unknown Het
Abca13 G A 11: 9,243,371 (GRCm39) V1745M probably damaging Het
Abca16 T G 7: 120,065,033 (GRCm39) Y563* probably null Het
Acot12 C T 13: 91,908,186 (GRCm39) probably benign Het
Alms1 G A 6: 85,564,742 (GRCm39) A39T unknown Het
Arid5b T C 10: 67,933,676 (GRCm39) D742G possibly damaging Het
Atp1a4 G A 1: 172,067,255 (GRCm39) probably benign Het
AU021092 T A 16: 5,035,725 (GRCm39) E145V possibly damaging Het
Calr4 A T 4: 109,099,461 (GRCm39) probably benign Het
Clip4 T A 17: 72,106,093 (GRCm39) probably null Het
Cnpy4 A T 5: 138,190,878 (GRCm39) H180L probably benign Het
Cyp2j9 T C 4: 96,467,802 (GRCm39) probably null Het
Dgkq A G 5: 108,802,481 (GRCm39) S406P probably damaging Het
Dhx8 G A 11: 101,654,754 (GRCm39) C1014Y probably damaging Het
Dnah3 T C 7: 119,527,977 (GRCm39) Y3824C probably damaging Het
Donson A T 16: 91,483,133 (GRCm39) H69Q probably damaging Het
Dppa3 A G 6: 122,606,939 (GRCm39) E143G probably damaging Het
Drg1 A G 11: 3,212,545 (GRCm39) F96L probably damaging Het
Dvl1 A C 4: 155,940,052 (GRCm39) T395P probably damaging Het
Enpp6 A G 8: 47,535,478 (GRCm39) N341S possibly damaging Het
F11 A G 8: 45,706,086 (GRCm39) F100L probably benign Het
Fas T C 19: 34,296,727 (GRCm39) Y189H probably damaging Het
Galnt14 G T 17: 73,852,076 (GRCm39) S114R probably damaging Het
Gfpt2 A G 11: 49,720,602 (GRCm39) I528V probably benign Het
Glt6d1 A G 2: 25,684,280 (GRCm39) V242A possibly damaging Het
Grm1 A T 10: 10,594,953 (GRCm39) probably benign Het
Gskip G A 12: 105,665,224 (GRCm39) A88T probably damaging Het
Gtpbp1 A G 15: 79,597,648 (GRCm39) I348V probably benign Het
Hnrnpul1 C A 7: 25,440,308 (GRCm39) R316L possibly damaging Het
Il34 T C 8: 111,474,915 (GRCm39) E121G probably damaging Het
Lrr1 T C 12: 69,215,685 (GRCm39) L19P probably damaging Het
Mat2b A G 11: 40,573,496 (GRCm39) probably benign Het
Mettl21e T C 1: 44,245,542 (GRCm39) K235E probably damaging Het
Mir124-2hg T A 3: 17,839,693 (GRCm39) E126V possibly damaging Het
Myh15 A G 16: 48,952,414 (GRCm39) K828R probably benign Het
Myom3 A G 4: 135,492,237 (GRCm39) D127G possibly damaging Het
Nek5 C A 8: 22,569,093 (GRCm39) probably benign Het
Nudt7 A T 8: 114,878,392 (GRCm39) probably null Het
Or10ag56 A T 2: 87,139,693 (GRCm39) T187S probably benign Het
Or10d4c T G 9: 39,558,767 (GRCm39) C248W probably damaging Het
Or1j4 T C 2: 36,740,202 (GRCm39) L48P probably damaging Het
Or4a67 G A 2: 88,597,658 (GRCm39) Q334* probably null Het
Or8k23 C T 2: 86,186,619 (GRCm39) V36I probably benign Het
Phyhd1 A G 2: 30,171,040 (GRCm39) H241R probably damaging Het
Pmch T C 10: 87,927,262 (GRCm39) probably benign Het
Ror1 A G 4: 100,298,717 (GRCm39) S697G probably damaging Het
Rslcan18 A G 13: 67,260,322 (GRCm39) V25A probably benign Het
Sema6b T C 17: 56,433,630 (GRCm39) H426R probably damaging Het
Serpina3g T C 12: 104,204,598 (GRCm39) F9S probably damaging Het
Serpinb12 T A 1: 106,874,432 (GRCm39) H52Q probably benign Het
Sh3gl1 T C 17: 56,324,873 (GRCm39) K294R probably benign Het
Sidt1 G T 16: 44,079,809 (GRCm39) T615K possibly damaging Het
Slc16a4 A C 3: 107,205,255 (GRCm39) probably benign Het
Sned1 T A 1: 93,199,696 (GRCm39) probably null Het
Sp2 A T 11: 96,846,924 (GRCm39) probably benign Het
Steap1 T A 5: 5,792,903 (GRCm39) I3F possibly damaging Het
Stxbp5l A T 16: 36,950,159 (GRCm39) probably null Het
Tbc1d9 G T 8: 83,995,614 (GRCm39) V968F probably benign Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Triobp T C 15: 78,858,098 (GRCm39) L1233P possibly damaging Het
Trp53bp1 C A 2: 121,082,349 (GRCm39) A317S probably null Het
Trpc4ap A G 2: 155,482,398 (GRCm39) F531L possibly damaging Het
Ugt1a10 C T 1: 88,145,971 (GRCm39) P473L probably damaging Het
Vmn1r86 T C 7: 12,836,088 (GRCm39) K213E probably benign Het
Vps8 G A 16: 21,358,859 (GRCm39) probably null Het
Wnk1 A T 6: 119,903,525 (GRCm39) S2563T probably damaging Het
Yrdc C G 4: 124,745,559 (GRCm39) R3G probably damaging Het
Zfp287 A T 11: 62,606,070 (GRCm39) V279E 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
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
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'- GTGTGCAGAGACTGATCTTTCCTCC -3'
(R):5'- CTTTGAGACTGATCTCCGCACTCAC -3'

Sequencing Primer
(F):5'- GAGACTGATCTTTCCTCCAAGAG -3'
(R):5'- TTCCACCATTGGCAGGTGAG -3'
Posted On 2013-06-12