Incidental Mutation 'R5208:Eftud2'
ID 402167
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 042783-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5208 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 102729299-102771811 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 102732011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 768 (P768S)
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: P778S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929
AA Change: P778S

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: P777S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929
AA Change: P777S

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 unknown
Transcript: ENSMUST00000132543
AA Change: P18S
SMART Domains Protein: ENSMUSP00000133732
Gene: ENSMUSG00000020929
AA Change: P18S

DomainStartEndE-ValueType
Pfam:EFG_IV 1 65 2.9e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000173679
AA Change: P768S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134327
Gene: ENSMUSG00000020929
AA Change: P768S

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

DomainStartEndE-ValueType
low complexity region 85 98 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A T 4: 144,344,398 (GRCm39) N58I probably benign Het
Adgra3 T C 5: 50,168,857 (GRCm39) D163G probably damaging Het
Alcam C A 16: 52,115,411 (GRCm39) E236* probably null Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Aplf G T 6: 87,619,008 (GRCm39) probably null Het
Arl4a A T 12: 40,086,744 (GRCm39) M1K probably null Het
Asic4 A G 1: 75,427,870 (GRCm39) D132G probably damaging Het
Bbs12 T C 3: 37,374,422 (GRCm39) I290T probably benign Het
BC024139 A G 15: 76,008,865 (GRCm39) S290P probably benign Het
Bmp6 G A 13: 38,653,673 (GRCm39) A247T probably benign Het
Cadps A G 14: 12,457,711 (GRCm38) S1057P possibly damaging Het
Caprin1 A C 2: 103,599,778 (GRCm39) probably null Het
Cdc42bpg G A 19: 6,371,750 (GRCm39) R1343K probably benign Het
Cdk18 A T 1: 132,045,218 (GRCm39) probably null Het
Cenpf A T 1: 189,403,243 (GRCm39) probably null Het
Cfhr1 A T 1: 139,484,068 (GRCm39) probably null Het
Chn2 A T 6: 54,272,786 (GRCm39) I201F probably damaging Het
Chrdl2 A G 7: 99,673,129 (GRCm39) D175G probably damaging Het
Disp2 G T 2: 118,622,286 (GRCm39) R1006L probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dnah3 C G 7: 119,631,861 (GRCm39) D1365H probably damaging Het
Efcab8 T A 2: 153,644,343 (GRCm39) Y372* probably null Het
Ehmt1 A C 2: 24,691,545 (GRCm39) S1170A probably benign Het
Gdpd4 A C 7: 97,664,118 (GRCm39) K572Q probably benign Het
Gm7356 T C 17: 14,221,456 (GRCm39) E191G probably damaging Het
Gm8674 A T 13: 50,055,957 (GRCm39) noncoding transcript Het
Gulp1 T G 1: 44,820,199 (GRCm39) H235Q probably benign Het
Hormad1 T C 3: 95,485,418 (GRCm39) V202A possibly damaging Het
Inpp5b G A 4: 124,645,110 (GRCm39) D179N possibly damaging Het
Kcnk4 T A 19: 6,905,069 (GRCm39) Y194F possibly damaging Het
Lars1 A C 18: 42,350,622 (GRCm39) S896A probably benign Het
Lonp1 A G 17: 56,924,793 (GRCm39) V538A probably damaging Het
Map3k14 A T 11: 103,129,972 (GRCm39) L315Q probably damaging Het
Met T A 6: 17,526,422 (GRCm39) Y500* probably null Het
Mga T G 2: 119,778,462 (GRCm39) I2093M possibly damaging Het
Mpl T G 4: 118,313,078 (GRCm39) I152L probably benign Het
Mthfsd G A 8: 121,835,058 (GRCm39) probably benign Het
Mup4 A G 4: 59,958,119 (GRCm39) F150L probably damaging Het
Mybph T A 1: 134,121,273 (GRCm39) V11D probably benign Het
Or4f54 A T 2: 111,122,946 (GRCm39) E111V probably damaging Het
Or52n2c A G 7: 104,574,933 (GRCm39) F13L probably benign Het
Or5ak20 T A 2: 85,184,142 (GRCm39) I43F probably benign Het
Pde4a T C 9: 21,114,854 (GRCm39) probably null Het
Pex2 C T 3: 5,626,428 (GRCm39) R127H probably benign Het
Pgap3 A G 11: 98,288,874 (GRCm39) W94R probably damaging Het
Prl4a1 T C 13: 28,202,467 (GRCm39) V14A probably benign Het
Psg25 A T 7: 18,260,460 (GRCm39) I146N probably benign Het
Ptprn2 A G 12: 116,822,548 (GRCm39) Y209C probably damaging Het
Scart2 C A 7: 139,877,949 (GRCm39) A977D probably benign Het
Sema4c T A 1: 36,589,407 (GRCm39) D573V probably damaging Het
Setx A T 2: 29,056,379 (GRCm39) I2192F possibly damaging Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Sp4 A G 12: 118,263,281 (GRCm39) L255P probably damaging Het
Spaca7 A G 8: 12,636,456 (GRCm39) Y94C probably damaging Het
Stt3a T G 9: 36,657,891 (GRCm39) I390L possibly damaging Het
Tars2 A G 3: 95,654,905 (GRCm39) W128R probably damaging Het
Tll1 G A 8: 64,504,527 (GRCm39) T623M probably damaging Het
Tmem129 A T 5: 33,812,850 (GRCm39) V166E probably damaging Het
Tmem200a T A 10: 25,870,051 (GRCm39) I73F probably benign Het
Tnks1bp1 T C 2: 84,900,976 (GRCm39) M1561T probably damaging Het
Zfat A T 15: 68,052,570 (GRCm39) I401N probably damaging Het
Zfp142 A T 1: 74,610,027 (GRCm39) V1153E probably benign Het
Zwilch T C 9: 64,060,205 (GRCm39) I354V 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
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
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'- TCCAGGTCAATCTAGAGATGCC -3'
(R):5'- ATCCCTAGATGAAGAACCTGCAG -3'

Sequencing Primer
(F):5'- ATCTAGAGATGCCTTCATTTTGGAG -3'
(R):5'- TAGATGAAGAACCTGCAGTGCCC -3'
Posted On 2016-07-22