Incidental Mutation 'R1376:Elp5'
| ID |
186268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elp5
|
| Ensembl Gene |
ENSMUSG00000018565 |
| Gene Name |
elongator acetyltransferase complex subunit 5 |
| Synonyms |
Rai12, Clone 13u |
| MMRRC Submission |
039440-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R1376 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69859050-69872352 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69865916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 120
(V120A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108594]
[ENSMUST00000108595]
[ENSMUST00000142788]
[ENSMUST00000143175]
[ENSMUST00000147437]
|
| AlphaFold |
Q99L85 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108594
AA Change: V120A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000104235
Gene: ENSMUSG00000018565
AA Change: V120A
| 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
AA Change: V120A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104236
Gene: ENSMUSG00000018565
AA Change: V120A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Elong_Iki1
|
1 |
139 |
9.2e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123701
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127437
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138562
|
| 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: ENSMUST00000143175
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143788
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147437
|
| SMART Domains |
Protein: ENSMUSP00000117394
Gene: ENSMUSG00000018565
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Elong_Iki1
|
1 |
115 |
1.7e-24 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 89.2%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
T |
11: 80,254,735 (GRCm39) |
I362N |
possibly damaging |
Het |
| 9130023H24Rik |
A |
G |
7: 127,836,182 (GRCm39) |
V137A |
probably benign |
Het |
| Adal |
A |
G |
2: 120,983,011 (GRCm39) |
D177G |
probably damaging |
Het |
| Cdcp2 |
G |
T |
4: 106,959,956 (GRCm39) |
V124F |
possibly damaging |
Het |
| Ceacam3 |
T |
C |
7: 16,897,088 (GRCm39) |
C685R |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,252,164 (GRCm39) |
|
probably benign |
Het |
| Cfd |
T |
C |
10: 79,727,986 (GRCm39) |
I174T |
possibly damaging |
Het |
| Dapk2 |
C |
G |
9: 66,127,925 (GRCm39) |
R68G |
probably damaging |
Het |
| Ehd1 |
C |
T |
19: 6,344,418 (GRCm39) |
T226M |
probably damaging |
Het |
| Fzd1 |
G |
A |
5: 4,807,174 (GRCm39) |
T136M |
possibly damaging |
Het |
| Galntl5 |
G |
T |
5: 25,391,286 (GRCm39) |
V62F |
probably benign |
Het |
| Gm11787 |
A |
G |
4: 3,516,373 (GRCm39) |
|
noncoding transcript |
Het |
| Josd2 |
C |
A |
7: 44,120,539 (GRCm39) |
P50H |
probably damaging |
Het |
| Lect2 |
T |
A |
13: 56,690,577 (GRCm39) |
I133F |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,214,245 (GRCm39) |
T700A |
probably benign |
Het |
| Lpl |
T |
C |
8: 69,340,250 (GRCm39) |
W82R |
probably damaging |
Het |
| Man2a1 |
C |
T |
17: 64,979,038 (GRCm39) |
R523C |
possibly damaging |
Het |
| Mast4 |
T |
C |
13: 102,872,916 (GRCm39) |
K1959E |
possibly damaging |
Het |
| Minar1 |
T |
C |
9: 89,473,299 (GRCm39) |
T871A |
probably damaging |
Het |
| Or10ag57 |
A |
G |
2: 87,218,162 (GRCm39) |
M38V |
probably benign |
Het |
| Or10ag58 |
C |
T |
2: 87,264,903 (GRCm39) |
S24L |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,650,533 (GRCm39) |
V963A |
probably damaging |
Het |
| Pdgfd |
A |
G |
9: 6,376,994 (GRCm39) |
I357V |
probably benign |
Het |
| Pold1 |
T |
C |
7: 44,189,986 (GRCm39) |
D400G |
probably damaging |
Het |
| Ppp1r12a |
T |
C |
10: 108,034,779 (GRCm39) |
I108T |
probably damaging |
Het |
| Rimbp2 |
G |
C |
5: 128,847,355 (GRCm39) |
P931A |
possibly damaging |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Homo |
| Sec24a |
A |
C |
11: 51,591,740 (GRCm39) |
|
probably benign |
Het |
| Sf3b1 |
A |
T |
1: 55,058,424 (GRCm39) |
V55E |
probably damaging |
Het |
| Sult2a2 |
T |
C |
7: 13,468,696 (GRCm39) |
V54A |
probably damaging |
Het |
| Taok3 |
T |
C |
5: 117,404,026 (GRCm39) |
Y734H |
probably damaging |
Het |
| Tasor |
A |
G |
14: 27,151,338 (GRCm39) |
K105E |
probably benign |
Het |
| Tuba3b |
A |
G |
6: 145,564,500 (GRCm39) |
E90G |
possibly damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
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 |
|
|
IGL01405:Elp5
|
APN |
11 |
69,859,962 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCAGATATGGGTATGCACACCCAC -3'
(R):5'- AGAGACCCTCTTAACTGGTCAAAGCC -3'
Sequencing Primer
(F):5'- atctgcctgcctctgcc -3'
(R):5'- TCTTAACTGGTCAAAGCCTGGAG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation