Incidental Mutation 'IGL02386:Eftud2'
| ID |
291570 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02386
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
102838473-102880985 bp(-) (GRCm38) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 102851754 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021306]
[ENSMUST00000021306]
[ENSMUST00000107060]
[ENSMUST00000107060]
[ENSMUST00000173679]
[ENSMUST00000173679]
|
| AlphaFold |
O08810 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021306
|
| SMART Domains |
Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929
| 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 null
Transcript: ENSMUST00000021306
|
| SMART Domains |
Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929
| 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 null
Transcript: ENSMUST00000107060
|
| SMART Domains |
Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929
| 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 |
probably null
Transcript: ENSMUST00000107060
|
| SMART Domains |
Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929
| 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 |
noncoding transcript
Transcript: ENSMUST00000141273
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000173679
|
| SMART Domains |
Protein: ENSMUSP00000134327
Gene: ENSMUSG00000020929
| 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 |
probably null
Transcript: ENSMUST00000173679
|
| SMART Domains |
Protein: ENSMUSP00000134327
Gene: ENSMUSG00000020929
| 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 |
|
| Coding Region Coverage |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930555F03Rik |
G |
A |
8: 49,500,437 (GRCm38) |
|
noncoding transcript |
Het |
| Abhd17b |
T |
C |
19: 21,680,899 (GRCm38) |
Y167H |
possibly damaging |
Het |
| Ablim1 |
T |
C |
19: 57,134,654 (GRCm38) |
D167G |
probably damaging |
Het |
| Bpnt1 |
G |
T |
1: 185,338,175 (GRCm38) |
K21N |
probably damaging |
Het |
| Cables2 |
A |
G |
2: 180,261,638 (GRCm38) |
V251A |
probably benign |
Het |
| Cyp2b13 |
T |
C |
7: 26,086,013 (GRCm38) |
L269P |
probably damaging |
Het |
| Dhodh |
A |
G |
8: 109,594,764 (GRCm38) |
I330T |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,340,381 (GRCm38) |
D2311E |
probably damaging |
Het |
| Dph1 |
T |
C |
11: 75,183,602 (GRCm38) |
D128G |
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,276,999 (GRCm38) |
I508N |
probably benign |
Het |
| Fstl4 |
T |
A |
11: 52,773,871 (GRCm38) |
H9Q |
probably benign |
Het |
| Glra3 |
A |
T |
8: 56,089,028 (GRCm38) |
M269L |
probably benign |
Het |
| Gpatch8 |
C |
A |
11: 102,508,157 (GRCm38) |
R83L |
unknown |
Het |
| Gss |
A |
G |
2: 155,573,170 (GRCm38) |
V205A |
probably benign |
Het |
| Ifi30 |
A |
G |
8: 70,764,760 (GRCm38) |
|
probably benign |
Het |
| Itch |
T |
A |
2: 155,202,261 (GRCm38) |
Y495* |
probably null |
Het |
| Lilrb4a |
C |
T |
10: 51,491,226 (GRCm38) |
Q22* |
probably null |
Het |
| Mest |
T |
C |
6: 30,744,914 (GRCm38) |
F201S |
possibly damaging |
Het |
| Myh8 |
T |
A |
11: 67,294,440 (GRCm38) |
I839N |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 98,075,112 (GRCm38) |
G1122E |
probably damaging |
Het |
| Ntan1 |
T |
A |
16: 13,835,199 (GRCm38) |
M273K |
probably benign |
Het |
| Numa1 |
A |
G |
7: 102,007,532 (GRCm38) |
K1548R |
probably benign |
Het |
| Obsl1 |
A |
G |
1: 75,492,517 (GRCm38) |
V1260A |
probably damaging |
Het |
| Or4b12 |
T |
A |
2: 90,265,951 (GRCm38) |
I160F |
probably damaging |
Het |
| Or4c10 |
T |
C |
2: 89,930,544 (GRCm38) |
V245A |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 8,953,804 (GRCm38) |
S669G |
possibly damaging |
Het |
| Ppargc1b |
T |
C |
18: 61,323,151 (GRCm38) |
D79G |
probably damaging |
Het |
| Rnf103 |
A |
G |
6: 71,509,218 (GRCm38) |
T278A |
probably benign |
Het |
| Slc22a4 |
C |
A |
11: 53,988,772 (GRCm38) |
|
probably benign |
Het |
| Snx25 |
A |
T |
8: 46,041,349 (GRCm38) |
M833K |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,325,104 (GRCm38) |
P658L |
unknown |
Het |
| Susd2 |
A |
T |
10: 75,640,095 (GRCm38) |
Y357N |
probably damaging |
Het |
| Syne4 |
C |
A |
7: 30,316,234 (GRCm38) |
S91Y |
possibly damaging |
Het |
| Tgfbrap1 |
C |
A |
1: 43,075,821 (GRCm38) |
G40C |
probably damaging |
Het |
| Tial1 |
A |
G |
7: 128,448,345 (GRCm38) |
S94P |
probably damaging |
Het |
| Tle3 |
A |
G |
9: 61,394,659 (GRCm38) |
T117A |
possibly damaging |
Het |
| Usp48 |
A |
C |
4: 137,604,523 (GRCm38) |
R73S |
possibly damaging |
Het |
| Utrn |
G |
T |
10: 12,421,608 (GRCm38) |
D685E |
possibly damaging |
Het |
|
| Other mutations in Eftud2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01448:Eftud2
|
APN |
11 |
102,865,563 (GRCm38) |
splice site |
probably benign |
|
|
IGL01765:Eftud2
|
APN |
11 |
102,839,256 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01868:Eftud2
|
APN |
11 |
102,869,127 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL02161:Eftud2
|
APN |
11 |
102,854,876 (GRCm38) |
splice site |
probably benign |
|
|
IGL02165:Eftud2
|
APN |
11 |
102,851,747 (GRCm38) |
splice site |
probably benign |
|
|
IGL02218:Eftud2
|
APN |
11 |
102,870,213 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL02664:Eftud2
|
APN |
11 |
102,841,712 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02677:Eftud2
|
APN |
11 |
102,846,614 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02792:Eftud2
|
APN |
11 |
102,870,256 (GRCm38) |
splice site |
probably benign |
|
|
IGL02870:Eftud2
|
APN |
11 |
102,862,626 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03131:Eftud2
|
APN |
11 |
102,870,183 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0137:Eftud2
|
UTSW |
11 |
102,868,617 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0244:Eftud2
|
UTSW |
11 |
102,864,725 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0358:Eftud2
|
UTSW |
11 |
102,864,801 (GRCm38) |
splice site |
probably benign |
|
|
R0463:Eftud2
|
UTSW |
11 |
102,864,771 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0511:Eftud2
|
UTSW |
11 |
102,844,222 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0525:Eftud2
|
UTSW |
11 |
102,839,253 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0586:Eftud2
|
UTSW |
11 |
102,846,620 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0751:Eftud2
|
UTSW |
11 |
102,839,253 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1034:Eftud2
|
UTSW |
11 |
102,849,184 (GRCm38) |
missense |
probably benign |
|
|
R1079:Eftud2
|
UTSW |
11 |
102,840,044 (GRCm38) |
nonsense |
probably null |
|
|
R1208:Eftud2
|
UTSW |
11 |
102,864,766 (GRCm38) |
missense |
probably benign |
0.22 |
|
R1208:Eftud2
|
UTSW |
11 |
102,864,766 (GRCm38) |
missense |
probably benign |
0.22 |
|
R1220:Eftud2
|
UTSW |
11 |
102,851,747 (GRCm38) |
splice site |
probably benign |
|
|
R1438:Eftud2
|
UTSW |
11 |
102,860,042 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1520:Eftud2
|
UTSW |
11 |
102,839,440 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1569:Eftud2
|
UTSW |
11 |
102,854,771 (GRCm38) |
splice site |
probably benign |
|
|
R2270:Eftud2
|
UTSW |
11 |
102,864,781 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3500:Eftud2
|
UTSW |
11 |
102,844,180 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3686:Eftud2
|
UTSW |
11 |
102,844,201 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3687:Eftud2
|
UTSW |
11 |
102,844,201 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3688:Eftud2
|
UTSW |
11 |
102,844,201 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3808:Eftud2
|
UTSW |
11 |
102,841,463 (GRCm38) |
splice site |
probably null |
|
|
R3892:Eftud2
|
UTSW |
11 |
102,846,187 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4003:Eftud2
|
UTSW |
11 |
102,860,110 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R4091:Eftud2
|
UTSW |
11 |
102,839,416 (GRCm38) |
splice site |
probably null |
|
|
R4794:Eftud2
|
UTSW |
11 |
102,870,177 (GRCm38) |
missense |
probably benign |
0.14 |
|
R4841:Eftud2
|
UTSW |
11 |
102,854,814 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4842:Eftud2
|
UTSW |
11 |
102,854,814 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5151:Eftud2
|
UTSW |
11 |
102,867,844 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5208:Eftud2
|
UTSW |
11 |
102,841,185 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6199:Eftud2
|
UTSW |
11 |
102,840,057 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6357:Eftud2
|
UTSW |
11 |
102,864,780 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6720:Eftud2
|
UTSW |
11 |
102,838,623 (GRCm38) |
nonsense |
probably null |
|
|
R7604:Eftud2
|
UTSW |
11 |
102,848,012 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R7886:Eftud2
|
UTSW |
11 |
102,840,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8017:Eftud2
|
UTSW |
11 |
102,843,348 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8019:Eftud2
|
UTSW |
11 |
102,843,348 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8139:Eftud2
|
UTSW |
11 |
102,867,859 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8431:Eftud2
|
UTSW |
11 |
102,846,236 (GRCm38) |
missense |
probably benign |
0.08 |
|
R8545:Eftud2
|
UTSW |
11 |
102,840,271 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8676:Eftud2
|
UTSW |
11 |
102,868,621 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9089:Eftud2
|
UTSW |
11 |
102,869,145 (GRCm38) |
missense |
probably benign |
|
|
R9173:Eftud2
|
UTSW |
11 |
102,843,416 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9277:Eftud2
|
UTSW |
11 |
102,860,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9313:Eftud2
|
UTSW |
11 |
102,839,436 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9604:Eftud2
|
UTSW |
11 |
102,846,230 (GRCm38) |
missense |
probably benign |
0.11 |
|
R9664:Eftud2
|
UTSW |
11 |
102,868,596 (GRCm38) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation