Incidental Mutation 'R3686:Eftud2'
| ID |
269539 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3686 (G1)
|
| Quality Score |
190 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
102729299-102771811 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102735027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 624
(E624G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021306]
[ENSMUST00000107060]
[ENSMUST00000173679]
|
| AlphaFold |
O08810 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021306
AA Change: E634G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929
AA Change: E634G
| 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 damaging
Transcript: ENSMUST00000107060
AA Change: E633G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929
AA Change: E633G
| 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: ENSMUST00000131678
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132543
|
| SMART Domains |
Protein: ENSMUSP00000133732
Gene: ENSMUSG00000020929
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EFG_IV
|
1 |
65 |
2.9e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141273
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143323
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172611
AA Change: E6G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134316
Gene: ENSMUSG00000020929
AA Change: E6G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
98 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173679
AA Change: E624G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134327
Gene: ENSMUSG00000020929
AA Change: E624G
| 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 |
|
| Meta Mutation Damage Score |
0.9539 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb16 |
T |
A |
11: 102,159,885 (GRCm39) |
D79E |
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| B230307C23Rik |
T |
A |
16: 97,810,199 (GRCm39) |
N62K |
probably benign |
Het |
| B3galnt2 |
G |
A |
13: 14,150,220 (GRCm39) |
|
probably null |
Het |
| Bnip2 |
T |
A |
9: 69,906,432 (GRCm39) |
Y118N |
probably damaging |
Het |
| Bptf |
C |
A |
11: 106,965,024 (GRCm39) |
R1275L |
probably benign |
Het |
| Cacna1g |
T |
C |
11: 94,349,916 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cdh4 |
T |
C |
2: 179,422,160 (GRCm39) |
S95P |
probably benign |
Het |
| Ceacam5 |
G |
A |
7: 17,494,748 (GRCm39) |
E919K |
possibly damaging |
Het |
| Hr |
T |
A |
14: 70,795,236 (GRCm39) |
N289K |
probably damaging |
Het |
| Hsp90ab1 |
A |
G |
17: 45,880,214 (GRCm39) |
Y110H |
probably damaging |
Het |
| Map3k1 |
A |
G |
13: 111,890,425 (GRCm39) |
V1258A |
probably damaging |
Het |
| Naa11 |
A |
T |
5: 97,539,648 (GRCm39) |
V170E |
probably benign |
Het |
| Nmd3 |
C |
T |
3: 69,654,095 (GRCm39) |
R413C |
probably damaging |
Het |
| Or4k51 |
G |
T |
2: 111,584,914 (GRCm39) |
V107F |
probably benign |
Het |
| Or56b2 |
A |
G |
7: 104,337,599 (GRCm39) |
I126V |
probably benign |
Het |
| Pgm3 |
G |
T |
9: 86,441,563 (GRCm39) |
P345T |
probably benign |
Het |
| Ptpn14 |
C |
A |
1: 189,583,596 (GRCm39) |
D814E |
probably damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Ros1 |
A |
T |
10: 52,021,912 (GRCm39) |
V624E |
probably damaging |
Het |
| Sgo2b |
T |
C |
8: 64,384,361 (GRCm39) |
K212E |
probably benign |
Het |
| Shisa2 |
T |
A |
14: 59,867,228 (GRCm39) |
L160Q |
probably damaging |
Het |
| Strn4 |
A |
G |
7: 16,556,506 (GRCm39) |
Y123C |
probably damaging |
Het |
| Sycp2 |
T |
C |
2: 178,016,177 (GRCm39) |
T762A |
probably benign |
Het |
| Tiam2 |
A |
G |
17: 3,471,959 (GRCm39) |
K534E |
possibly damaging |
Het |
| Trdn |
A |
T |
10: 33,344,185 (GRCm39) |
D633V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,747,333 (GRCm39) |
Y4572C |
possibly damaging |
Het |
| Unc79 |
T |
A |
12: 103,054,920 (GRCm39) |
N921K |
probably damaging |
Het |
| Vmn2r66 |
A |
G |
7: 84,644,397 (GRCm39) |
V671A |
probably damaging |
Het |
| Wdr86 |
T |
A |
5: 24,923,339 (GRCm39) |
T118S |
probably damaging |
Het |
| Zfp446 |
T |
A |
7: 12,716,580 (GRCm39) |
I517N |
probably damaging |
Het |
| Zfp830 |
G |
A |
11: 82,656,188 (GRCm39) |
E331K |
possibly damaging |
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 |
|
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 |
|
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'- GTCTCTAGAACCTTCCCCGATG -3'
(R):5'- GTGTTTAAGCACTGAACCAGC -3'
Sequencing Primer
(F):5'- GATGAAGAACAACTGAAAGCACTTTC -3'
(R):5'- TGAACCAGCCAGCCCTTAC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation