Incidental Mutation 'IGL01405:Elp5'
| ID |
79772 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Elp5
|
| Ensembl Gene |
ENSMUSG00000018565 |
| Gene Name |
elongator acetyltransferase complex subunit 5 |
| Synonyms |
Rai12, Clone 13u |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
IGL01405
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
69859050-69872352 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69859962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 250
(R250G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018713]
[ENSMUST00000060651]
[ENSMUST00000108594]
[ENSMUST00000108595]
[ENSMUST00000108596]
[ENSMUST00000108597]
[ENSMUST00000142788]
[ENSMUST00000151515]
|
| AlphaFold |
Q99L85 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018713
|
| SMART Domains |
Protein: ENSMUSP00000018713
Gene: ENSMUSG00000018569
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMP22_Claudin
|
4 |
182 |
2.3e-53 |
PFAM |
|
Pfam:Claudin_2
|
15 |
184 |
1.4e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060651
|
| SMART Domains |
Protein: ENSMUSP00000090725
Gene: ENSMUSG00000018569
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMP22_Claudin
|
4 |
83 |
3.1e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108594
AA Change: R250G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104235
Gene: ENSMUSG00000018565
AA Change: R250G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Elong_Iki1
|
1 |
201 |
1.1e-12 |
PFAM |
|
Pfam:Elong_Iki1
|
205 |
282 |
3.8e-10 |
PFAM |
|
low complexity region
|
283 |
299 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108595
|
| SMART Domains |
Protein: ENSMUSP00000104236
Gene: ENSMUSG00000018565
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Elong_Iki1
|
1 |
139 |
9.2e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108596
|
| SMART Domains |
Protein: ENSMUSP00000104237
Gene: ENSMUSG00000018569
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMP22_Claudin
|
1 |
99 |
1.1e-29 |
PFAM |
|
Pfam:Claudin_2
|
1 |
101 |
1.4e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108597
|
| SMART Domains |
Protein: ENSMUSP00000104238
Gene: ENSMUSG00000018569
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMP22_Claudin
|
4 |
182 |
2.5e-53 |
PFAM |
|
Pfam:Claudin_2
|
15 |
184 |
1.1e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123701
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138562
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143788
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151766
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142788
|
| SMART Domains |
Protein: ENSMUSP00000136063
Gene: ENSMUSG00000018565
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Elong_Iki1
|
1 |
63 |
1.2e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127437
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151515
|
| SMART Domains |
Protein: ENSMUSP00000137627
Gene: ENSMUSG00000018569
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMP22_Claudin
|
1 |
99 |
5.7e-30 |
PFAM |
|
Pfam:Claudin_2
|
1 |
101 |
7.3e-11 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
G |
A |
17: 36,274,902 (GRCm39) |
R82W |
probably damaging |
Het |
| Atxn7 |
T |
C |
14: 14,100,105 (GRCm38) |
V597A |
probably benign |
Het |
| Bsg |
T |
A |
10: 79,547,348 (GRCm39) |
M205K |
probably benign |
Het |
| Ccdc18 |
T |
C |
5: 108,350,052 (GRCm39) |
|
probably benign |
Het |
| Cdh1 |
T |
C |
8: 107,375,633 (GRCm39) |
V57A |
probably damaging |
Het |
| Ddost |
A |
G |
4: 138,039,014 (GRCm39) |
D378G |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,095,033 (GRCm39) |
E779G |
possibly damaging |
Het |
| Gnb1 |
A |
G |
4: 155,627,645 (GRCm39) |
H142R |
probably damaging |
Het |
| Ift172 |
G |
T |
5: 31,419,196 (GRCm39) |
Y1148* |
probably null |
Het |
| Kif5a |
T |
C |
10: 127,081,859 (GRCm39) |
N153S |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Man2a2 |
T |
A |
7: 80,010,682 (GRCm39) |
M770L |
probably benign |
Het |
| Msh2 |
T |
C |
17: 87,985,663 (GRCm39) |
L80P |
probably damaging |
Het |
| Naip5 |
A |
T |
13: 100,358,453 (GRCm39) |
S928T |
probably benign |
Het |
| Or7g35 |
T |
A |
9: 19,496,501 (GRCm39) |
S223T |
probably benign |
Het |
| Pla2g4d |
T |
C |
2: 120,097,304 (GRCm39) |
N765S |
probably benign |
Het |
| Plcb4 |
C |
T |
2: 135,792,267 (GRCm39) |
T330I |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,574,482 (GRCm39) |
I127V |
probably benign |
Het |
| Rapgef5 |
C |
A |
12: 117,685,115 (GRCm39) |
T320K |
probably benign |
Het |
| Rbfa |
A |
G |
18: 80,236,080 (GRCm39) |
V223A |
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,517,626 (GRCm39) |
M187V |
probably benign |
Het |
| Ric1 |
T |
C |
19: 29,544,770 (GRCm39) |
|
probably benign |
Het |
| Slc22a16 |
C |
T |
10: 40,461,191 (GRCm39) |
T331M |
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,559,941 (GRCm39) |
S303P |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,105,542 (GRCm39) |
V513A |
possibly damaging |
Het |
| Tbce |
A |
T |
13: 14,178,280 (GRCm39) |
I370N |
probably damaging |
Het |
| Zfp358 |
G |
A |
8: 3,545,663 (GRCm39) |
D109N |
probably benign |
Het |
| Zfp523 |
T |
C |
17: 28,423,480 (GRCm39) |
S152P |
probably damaging |
Het |
| Zfp961 |
A |
G |
8: 72,721,778 (GRCm39) |
N78S |
possibly damaging |
Het |
|
| Other mutations in Elp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01024:Elp5
|
APN |
11 |
69,859,248 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01295:Elp5
|
APN |
11 |
69,859,296 (GRCm39) |
unclassified |
probably benign |
|
|
PIT1430001:Elp5
|
UTSW |
11 |
69,857,935 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0367:Elp5
|
UTSW |
11 |
69,865,967 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1376:Elp5
|
UTSW |
11 |
69,865,916 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1376:Elp5
|
UTSW |
11 |
69,865,916 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2392:Elp5
|
UTSW |
11 |
69,865,928 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4175:Elp5
|
UTSW |
11 |
69,861,388 (GRCm39) |
missense |
probably null |
0.90 |
|
R4176:Elp5
|
UTSW |
11 |
69,861,388 (GRCm39) |
missense |
probably null |
0.90 |
|
R4650:Elp5
|
UTSW |
11 |
69,860,398 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4988:Elp5
|
UTSW |
11 |
69,870,668 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7695:Elp5
|
UTSW |
11 |
69,860,327 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7878:Elp5
|
UTSW |
11 |
69,861,425 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9688:Elp5
|
UTSW |
11 |
69,861,425 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0024:Elp5
|
UTSW |
11 |
69,861,425 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2013-11-05 |
Incidental Mutation