Incidental Mutation 'IGL00826:Eaf2'
| ID |
10435 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eaf2
|
| Ensembl Gene |
ENSMUSG00000022838 |
| Gene Name |
ELL associated factor 2 |
| Synonyms |
FESTA-L, U19, Festa, Traits, FESTA-S |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.732)
|
| Stock # |
IGL00826
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
36613246-36695275 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36621038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 218
(M218K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023537]
[ENSMUST00000075946]
[ENSMUST00000114825]
[ENSMUST00000114829]
|
| AlphaFold |
Q91ZD6 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000023537
AA Change: C171S
|
| SMART Domains |
Protein: ENSMUSP00000023537
Gene: ENSMUSG00000022838
AA Change: C171S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EAF
|
14 |
116 |
1.3e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075946
AA Change: M88K
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000075331
Gene: ENSMUSG00000022838
AA Change: M88K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
132 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114825
AA Change: M88K
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110473
Gene: ENSMUSG00000022838
AA Change: M88K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
132 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114829
AA Change: M218K
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110477
Gene: ENSMUSG00000022838
AA Change: M218K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EAF
|
16 |
115 |
8.6e-24 |
PFAM |
|
low complexity region
|
174 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
262 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147053
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231782
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit premature death, enlarged heart and prostate associate with hypertrophy, and increased incidence of tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
G |
8: 111,766,932 (GRCm39) |
S105A |
probably damaging |
Het |
| Adamtsl1 |
C |
T |
4: 86,075,041 (GRCm39) |
P136L |
probably damaging |
Het |
| Akap13 |
C |
A |
7: 75,327,195 (GRCm39) |
N376K |
probably damaging |
Het |
| Casp2 |
T |
A |
6: 42,246,219 (GRCm39) |
Y192* |
probably null |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cyp2c68 |
A |
G |
19: 39,727,949 (GRCm39) |
Y68H |
possibly damaging |
Het |
| Cyp2j9 |
A |
T |
4: 96,474,167 (GRCm39) |
I91K |
possibly damaging |
Het |
| Diablo |
T |
C |
5: 123,650,751 (GRCm39) |
I179M |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,880,768 (GRCm39) |
V2610M |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,168,372 (GRCm39) |
A696T |
probably damaging |
Het |
| Emc9 |
G |
T |
14: 55,822,377 (GRCm39) |
L64I |
possibly damaging |
Het |
| Epb41l2 |
T |
C |
10: 25,317,620 (GRCm39) |
S46P |
probably benign |
Het |
| Galnt7 |
A |
T |
8: 57,993,105 (GRCm39) |
Y405* |
probably null |
Het |
| Gnl3 |
A |
G |
14: 30,734,753 (GRCm39) |
|
probably benign |
Het |
| Map1a |
A |
G |
2: 121,132,757 (GRCm39) |
Q1191R |
possibly damaging |
Het |
| Map2k2 |
G |
A |
10: 80,954,052 (GRCm39) |
V173I |
probably benign |
Het |
| Nbeal2 |
A |
G |
9: 110,455,971 (GRCm39) |
V2408A |
probably benign |
Het |
| Npepps |
T |
C |
11: 97,126,884 (GRCm39) |
|
probably benign |
Het |
| Osbpl8 |
A |
T |
10: 111,108,181 (GRCm39) |
|
probably benign |
Het |
| Phf12 |
G |
T |
11: 77,906,332 (GRCm39) |
R282L |
probably damaging |
Het |
| Phf21a |
T |
G |
2: 92,174,881 (GRCm39) |
|
probably benign |
Het |
| Plin2 |
T |
C |
4: 86,582,683 (GRCm39) |
N98D |
possibly damaging |
Het |
| Prl7a1 |
A |
G |
13: 27,824,778 (GRCm39) |
V19A |
probably damaging |
Het |
| Slfn10-ps |
T |
C |
11: 82,926,085 (GRCm39) |
|
noncoding transcript |
Het |
| Spag11b |
T |
G |
8: 19,191,423 (GRCm39) |
V33G |
possibly damaging |
Het |
| Trappc13 |
A |
T |
13: 104,281,016 (GRCm39) |
S349T |
probably benign |
Het |
| Trim34a |
T |
C |
7: 103,910,140 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Eaf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01394:Eaf2
|
APN |
16 |
36,630,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03065:Eaf2
|
APN |
16 |
36,648,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0012:Eaf2
|
UTSW |
16 |
36,628,536 (GRCm39) |
splice site |
probably benign |
|
|
R0036:Eaf2
|
UTSW |
16 |
36,621,020 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1629:Eaf2
|
UTSW |
16 |
36,645,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1779:Eaf2
|
UTSW |
16 |
36,630,832 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1816:Eaf2
|
UTSW |
16 |
36,628,371 (GRCm39) |
splice site |
probably benign |
|
|
R1881:Eaf2
|
UTSW |
16 |
36,620,941 (GRCm39) |
splice site |
probably benign |
|
|
R4376:Eaf2
|
UTSW |
16 |
36,620,998 (GRCm39) |
missense |
unknown |
|
|
R7360:Eaf2
|
UTSW |
16 |
36,648,514 (GRCm39) |
missense |
probably benign |
|
|
R7764:Eaf2
|
UTSW |
16 |
36,645,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7919:Eaf2
|
UTSW |
16 |
36,630,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Eaf2
|
UTSW |
16 |
36,645,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation