Incidental Mutation 'R4794:Eftud2'
| ID |
368869 |
| 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 |
042420-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4794 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102729299-102771811 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102761003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 114
(Y114F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021306]
[ENSMUST00000107060]
[ENSMUST00000138483]
[ENSMUST00000173679]
|
| AlphaFold |
O08810 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021306
AA Change: Y114F
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929
AA Change: Y114F
| 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: Y113F
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929
AA Change: Y113F
| 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 |
probably benign
Transcript: ENSMUST00000138483
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147368
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173679
AA Change: Y114F
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000134327
Gene: ENSMUSG00000020929
AA Change: Y114F
| 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: ENSMUST00000173974
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181125
|
| Meta Mutation Damage Score |
0.0680 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.5%
|
| Validation Efficiency |
97% (75/77) |
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
A |
T |
12: 81,468,198 (GRCm39) |
I141K |
probably damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,459,978 (GRCm39) |
E537G |
probably damaging |
Het |
| Asic3 |
C |
T |
5: 24,620,895 (GRCm39) |
A259V |
probably damaging |
Het |
| Bcar1 |
G |
A |
8: 112,447,552 (GRCm39) |
Q142* |
probably null |
Het |
| Bcas3 |
T |
C |
11: 85,400,294 (GRCm39) |
V200A |
probably damaging |
Het |
| Cd302 |
A |
T |
2: 60,102,493 (GRCm39) |
I42N |
probably benign |
Het |
| Colec12 |
C |
A |
18: 9,848,984 (GRCm39) |
N387K |
probably damaging |
Het |
| Copa |
T |
A |
1: 171,946,888 (GRCm39) |
I1032N |
probably damaging |
Het |
| D630003M21Rik |
G |
C |
2: 158,038,059 (GRCm39) |
T1129S |
probably benign |
Het |
| D630045J12Rik |
G |
A |
6: 38,171,420 (GRCm39) |
T916I |
possibly damaging |
Het |
| Dnajb13 |
C |
T |
7: 100,153,199 (GRCm39) |
A241T |
probably damaging |
Het |
| Dyrk4 |
G |
T |
6: 126,862,300 (GRCm39) |
N397K |
possibly damaging |
Het |
| Elp1 |
ACTTCTTCTTCTTCTTCTTCTTC |
ACTTCTTCTTCTTCTTCTTC |
4: 56,781,176 (GRCm39) |
|
probably benign |
Het |
| Epm2a |
A |
G |
10: 11,266,597 (GRCm39) |
D114G |
probably benign |
Het |
| Exoc5 |
T |
C |
14: 49,286,357 (GRCm39) |
|
probably null |
Het |
| Fam135a |
G |
A |
1: 24,068,241 (GRCm39) |
T706I |
probably benign |
Het |
| Fasn |
A |
G |
11: 120,702,121 (GRCm39) |
V1845A |
probably benign |
Het |
| Fscn3 |
A |
G |
6: 28,430,595 (GRCm39) |
E255G |
probably damaging |
Het |
| Galnt7 |
A |
T |
8: 57,998,397 (GRCm39) |
Y311N |
probably damaging |
Het |
| Grid1 |
T |
C |
14: 34,544,579 (GRCm39) |
L50P |
probably damaging |
Het |
| Hepacam2 |
A |
G |
6: 3,475,933 (GRCm39) |
F331L |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kif1a |
T |
C |
1: 92,953,449 (GRCm39) |
Y1245C |
probably damaging |
Het |
| Ltbp3 |
T |
C |
19: 5,806,707 (GRCm39) |
F1022L |
probably damaging |
Het |
| Med16 |
G |
T |
10: 79,735,951 (GRCm39) |
T399N |
probably damaging |
Het |
| Mfsd14a |
A |
T |
3: 116,439,155 (GRCm39) |
|
probably benign |
Het |
| Myh7b |
G |
A |
2: 155,465,186 (GRCm39) |
V681I |
probably benign |
Het |
| Ndc1 |
A |
G |
4: 107,247,419 (GRCm39) |
E409G |
probably benign |
Het |
| Necap2 |
A |
G |
4: 140,798,912 (GRCm39) |
|
probably benign |
Het |
| Or2a57 |
T |
A |
6: 43,212,629 (GRCm39) |
L29H |
probably damaging |
Het |
| Or4p21 |
A |
T |
2: 88,276,691 (GRCm39) |
M197K |
probably benign |
Het |
| Or7g29 |
C |
T |
9: 19,286,841 (GRCm39) |
S112N |
probably benign |
Het |
| Parp12 |
G |
A |
6: 39,094,744 (GRCm39) |
T117I |
probably benign |
Het |
| Pars2 |
C |
A |
4: 106,511,407 (GRCm39) |
C396* |
probably null |
Het |
| Prg4 |
A |
T |
1: 150,330,297 (GRCm39) |
|
probably benign |
Het |
| Prkg2 |
G |
A |
5: 99,114,492 (GRCm39) |
T523I |
probably damaging |
Het |
| Prph |
T |
A |
15: 98,955,308 (GRCm39) |
L425Q |
probably damaging |
Het |
| Ranbp9 |
A |
G |
13: 43,567,552 (GRCm39) |
Y549H |
probably damaging |
Het |
| Rbm12 |
A |
T |
2: 155,937,489 (GRCm39) |
|
probably benign |
Het |
| Reln |
T |
C |
5: 22,549,183 (GRCm39) |
Y75C |
probably damaging |
Het |
| Rock2 |
G |
A |
12: 16,990,408 (GRCm39) |
R110H |
probably damaging |
Het |
| Samd1 |
G |
A |
8: 84,726,346 (GRCm39) |
E468K |
probably damaging |
Het |
| Samd11 |
T |
A |
4: 156,333,922 (GRCm39) |
Q173L |
probably damaging |
Het |
| Scgb2b20 |
C |
A |
7: 33,065,151 (GRCm39) |
G37V |
probably damaging |
Het |
| Sf1 |
C |
A |
19: 6,425,694 (GRCm39) |
|
probably benign |
Het |
| Slc17a5 |
T |
A |
9: 78,481,997 (GRCm39) |
H183L |
probably damaging |
Het |
| Slco1a7 |
A |
G |
6: 141,713,288 (GRCm39) |
V31A |
probably benign |
Het |
| Smgc |
T |
A |
15: 91,725,657 (GRCm39) |
S13T |
probably benign |
Het |
| Snapin |
A |
G |
3: 90,398,092 (GRCm39) |
|
probably benign |
Het |
| Spata31e4 |
C |
G |
13: 50,857,275 (GRCm39) |
P971R |
probably benign |
Het |
| Ssc5d |
C |
T |
7: 4,946,744 (GRCm39) |
P1033S |
probably benign |
Het |
| Strn3 |
T |
C |
12: 51,696,954 (GRCm39) |
E259G |
probably benign |
Het |
| Tbc1d32 |
A |
G |
10: 56,072,932 (GRCm39) |
F238L |
possibly damaging |
Het |
| Tbck |
G |
A |
3: 132,392,729 (GRCm39) |
V57M |
possibly damaging |
Het |
| Tgm3 |
A |
G |
2: 129,883,875 (GRCm39) |
D511G |
probably benign |
Het |
| Tlr5 |
T |
C |
1: 182,801,461 (GRCm39) |
V241A |
probably benign |
Het |
| Tmem181c-ps |
A |
G |
17: 6,887,754 (GRCm39) |
|
noncoding transcript |
Het |
| Tnfrsf1a |
G |
A |
6: 125,335,047 (GRCm39) |
C168Y |
probably damaging |
Het |
| Tph2 |
G |
T |
10: 115,018,675 (GRCm39) |
L79I |
possibly damaging |
Het |
| Tsc1 |
G |
A |
2: 28,551,702 (GRCm39) |
|
probably null |
Het |
| Ttc14 |
A |
T |
3: 33,857,298 (GRCm39) |
M215L |
probably benign |
Het |
| Ube3c |
A |
G |
5: 29,802,083 (GRCm39) |
N120S |
probably benign |
Het |
| Ubr2 |
A |
T |
17: 47,241,371 (GRCm39) |
W1728R |
probably damaging |
Het |
| Vnn1 |
A |
G |
10: 23,776,602 (GRCm39) |
T318A |
probably benign |
Het |
| Washc2 |
T |
C |
6: 116,235,610 (GRCm39) |
V941A |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,091,809 (GRCm39) |
V510A |
probably damaging |
Het |
| Wdsub1 |
A |
T |
2: 59,693,188 (GRCm39) |
V272E |
possibly damaging |
Het |
| Xylt1 |
A |
C |
7: 117,236,862 (GRCm39) |
D537A |
probably benign |
Het |
| Zfp57 |
A |
G |
17: 37,321,022 (GRCm39) |
N292S |
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 |
|
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 |
|
|
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'- AGCTGACATCCAGATGAGAGC -3'
(R):5'- CCGAAATAGCATTCCAGACTTTC -3'
Sequencing Primer
(F):5'- CTGGGAGAGAAAACTGAACCC -3'
(R):5'- CCAGACTTTCTCAACTTGAGTGATGG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation