Incidental Mutation 'R1208:Eftud2'
ID |
164832 |
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 |
039277-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1208 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
102729299-102771811 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 102755592 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 214
(V214A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102675
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021306]
[ENSMUST00000107060]
[ENSMUST00000138483]
[ENSMUST00000173679]
|
AlphaFold |
O08810 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021306
AA Change: V215A
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000021306 Gene: ENSMUSG00000020929 AA Change: V215A
Domain | Start | End | E-Value | Type |
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
AA Change: V214A
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000102675 Gene: ENSMUSG00000020929 AA Change: V214A
Domain | Start | End | E-Value | Type |
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 |
noncoding transcript
Transcript: ENSMUST00000131678
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138483
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173679
AA Change: V205A
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000134327 Gene: ENSMUSG00000020929 AA Change: V205A
Domain | Start | End | E-Value | Type |
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: ENSMUST00000181125
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173974
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
C |
A |
7: 29,260,708 (GRCm39) |
|
noncoding transcript |
Het |
Aadacl2fm3 |
C |
T |
3: 59,772,715 (GRCm39) |
P73L |
probably benign |
Het |
Asb14 |
T |
C |
14: 26,622,375 (GRCm39) |
|
probably benign |
Het |
Atp13a3 |
A |
T |
16: 30,173,065 (GRCm39) |
C271S |
probably benign |
Het |
Ccl25 |
T |
A |
8: 4,407,631 (GRCm39) |
S199T |
possibly damaging |
Het |
Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
Cep104 |
A |
T |
4: 154,069,836 (GRCm39) |
D270V |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,327,877 (GRCm39) |
Y2084N |
probably damaging |
Het |
Epb41l4b |
C |
T |
4: 57,077,252 (GRCm39) |
|
probably null |
Het |
Gys2 |
A |
G |
6: 142,396,193 (GRCm39) |
|
probably null |
Het |
Lig4 |
T |
C |
8: 10,021,062 (GRCm39) |
E906G |
probably damaging |
Het |
Mast3 |
G |
A |
8: 71,240,916 (GRCm39) |
|
probably null |
Het |
Mta2 |
G |
A |
19: 8,928,381 (GRCm39) |
R560H |
probably damaging |
Het |
Myom2 |
T |
C |
8: 15,134,631 (GRCm39) |
L478P |
probably damaging |
Het |
Neb |
A |
T |
2: 52,193,912 (GRCm39) |
L673* |
probably null |
Het |
Niban3 |
A |
T |
8: 72,053,119 (GRCm39) |
T125S |
probably damaging |
Het |
Or4c35 |
G |
A |
2: 89,808,836 (GRCm39) |
C238Y |
probably damaging |
Het |
Pdpk1 |
C |
A |
17: 24,312,583 (GRCm39) |
|
probably null |
Het |
Pphln1 |
T |
C |
15: 93,357,610 (GRCm39) |
W162R |
probably damaging |
Het |
Ppp1r13b |
A |
G |
12: 111,811,339 (GRCm39) |
V183A |
probably damaging |
Het |
Recql5 |
T |
C |
11: 115,783,982 (GRCm39) |
K951E |
probably damaging |
Het |
Rev1 |
T |
C |
1: 38,098,199 (GRCm39) |
|
probably benign |
Het |
Slc25a25 |
T |
C |
2: 32,307,437 (GRCm39) |
E309G |
probably benign |
Het |
Slc25a36 |
T |
C |
9: 96,967,188 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
A |
T |
2: 177,998,421 (GRCm39) |
I1033N |
possibly damaging |
Het |
Tbpl2 |
A |
T |
2: 23,984,783 (GRCm39) |
N120K |
probably benign |
Het |
Unc5b |
A |
T |
10: 60,602,771 (GRCm39) |
L876Q |
probably damaging |
Het |
Usp9y |
T |
C |
Y: 1,356,282 (GRCm39) |
T1140A |
probably benign |
Homo |
Vmn1r40 |
A |
G |
6: 89,691,326 (GRCm39) |
I48V |
probably benign |
Het |
Zbbx |
T |
C |
3: 74,945,299 (GRCm39) |
I708V |
possibly damaging |
Het |
Zfp318 |
AGAAGA |
AGAAGAGGAAGA |
17: 46,723,446 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Eftud2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- TACAAACTTGCATGTGTCCTGGCTC -3'
(R):5'- ATCTGGCAGACTTGCCTTCAGTG -3'
Sequencing Primer
(F):5'- GTCCTGGCTCTCAGAAGAATTAG -3'
(R):5'- ACTTTAATCCCAGGATGGGACTC -3'
|
Posted On |
2014-03-28 |