Incidental Mutation 'R4176:Elp5'
ID |
319520 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Elp5
|
Ensembl Gene |
ENSMUSG00000018565 |
Gene Name |
elongator acetyltransferase complex subunit 5 |
Synonyms |
Rai12, Clone 13u |
MMRRC Submission |
041014-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.940)
|
Stock # |
R4176 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
69859050-69872352 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 69861388 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 197
(Q197R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104235
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018713]
[ENSMUST00000060651]
[ENSMUST00000108594]
[ENSMUST00000108595]
[ENSMUST00000108596]
[ENSMUST00000108597]
[ENSMUST00000142788]
[ENSMUST00000147437]
[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 null
Transcript: ENSMUST00000108594
AA Change: Q197R
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000104235 Gene: ENSMUSG00000018565 AA Change: Q197R
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: ENSMUST00000138562
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123701
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127437
|
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 |
noncoding transcript
Transcript: ENSMUST00000151766
|
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 |
|
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 |
|
Meta Mutation Damage Score |
0.6256 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,522,000 (GRCm39) |
E1274G |
possibly damaging |
Het |
Abi3bp |
A |
G |
16: 56,472,563 (GRCm39) |
E424G |
probably damaging |
Het |
Ankrd10 |
A |
G |
8: 11,662,644 (GRCm39) |
I363T |
probably benign |
Het |
Ankrd12 |
A |
T |
17: 66,334,361 (GRCm39) |
N204K |
probably damaging |
Het |
Brca2 |
C |
A |
5: 150,463,098 (GRCm39) |
S954* |
probably null |
Het |
Col11a1 |
A |
C |
3: 114,001,872 (GRCm39) |
D432A |
possibly damaging |
Het |
Dagla |
G |
T |
19: 10,240,461 (GRCm39) |
D256E |
probably damaging |
Het |
Dsg2 |
T |
A |
18: 20,713,720 (GRCm39) |
F230L |
probably benign |
Het |
Emilin2 |
A |
T |
17: 71,581,258 (GRCm39) |
D489E |
probably benign |
Het |
Entrep3 |
T |
C |
3: 89,091,754 (GRCm39) |
V87A |
probably damaging |
Het |
Ermp1 |
A |
G |
19: 29,623,365 (GRCm39) |
|
probably null |
Het |
Fam149a |
A |
G |
8: 45,794,321 (GRCm39) |
Y614H |
probably benign |
Het |
Fnbp1 |
T |
C |
2: 30,926,131 (GRCm39) |
|
probably null |
Het |
Gabrb3 |
T |
C |
7: 57,241,061 (GRCm39) |
F13S |
probably benign |
Het |
Hydin |
G |
A |
8: 111,320,452 (GRCm39) |
A4499T |
probably benign |
Het |
Islr2 |
A |
T |
9: 58,107,183 (GRCm39) |
C26S |
probably damaging |
Het |
Jup |
T |
A |
11: 100,263,287 (GRCm39) |
D696V |
probably benign |
Het |
Kcnq5 |
A |
C |
1: 21,605,392 (GRCm39) |
V171G |
probably damaging |
Het |
Kntc1 |
T |
G |
5: 123,914,680 (GRCm39) |
S667A |
possibly damaging |
Het |
Loxhd1 |
A |
G |
18: 77,418,755 (GRCm39) |
T293A |
possibly damaging |
Het |
Lrp1b |
C |
A |
2: 41,298,405 (GRCm39) |
C138F |
probably damaging |
Het |
Lrrc37 |
T |
A |
11: 103,427,426 (GRCm39) |
H1388L |
unknown |
Het |
Mctp2 |
A |
G |
7: 71,909,085 (GRCm39) |
I76T |
probably benign |
Het |
Or2z8 |
A |
G |
8: 72,812,028 (GRCm39) |
Y168C |
probably damaging |
Het |
Or5k16 |
T |
C |
16: 58,736,947 (GRCm39) |
D19G |
probably benign |
Het |
Pbx1 |
A |
G |
1: 168,018,841 (GRCm39) |
|
probably null |
Het |
Pelp1 |
A |
T |
11: 70,287,693 (GRCm39) |
W410R |
probably damaging |
Het |
Phaf1 |
T |
C |
8: 105,967,763 (GRCm39) |
L218P |
probably benign |
Het |
Pkd1 |
T |
C |
17: 24,806,971 (GRCm39) |
L3482P |
probably benign |
Het |
Plekhn1 |
C |
T |
4: 156,306,258 (GRCm39) |
G604E |
probably benign |
Het |
Ptpn22 |
A |
G |
3: 103,793,561 (GRCm39) |
T571A |
probably benign |
Het |
Qrsl1 |
A |
T |
10: 43,760,828 (GRCm39) |
S252T |
probably damaging |
Het |
Rab3gap2 |
T |
A |
1: 184,978,863 (GRCm39) |
M280K |
probably damaging |
Het |
Serpinh1 |
T |
C |
7: 98,996,206 (GRCm39) |
M293V |
probably benign |
Het |
Six4 |
G |
A |
12: 73,155,605 (GRCm39) |
T454I |
probably damaging |
Het |
Slc26a8 |
T |
A |
17: 28,866,973 (GRCm39) |
E585D |
probably benign |
Het |
Slc34a2 |
T |
G |
5: 53,224,910 (GRCm39) |
C350W |
probably damaging |
Het |
Slit2 |
T |
A |
5: 48,394,586 (GRCm39) |
|
probably null |
Het |
Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
Trpm7 |
T |
C |
2: 126,671,083 (GRCm39) |
K633R |
possibly damaging |
Het |
Usp38 |
A |
C |
8: 81,719,928 (GRCm39) |
S434A |
probably benign |
Het |
Zbtb16 |
A |
G |
9: 48,571,101 (GRCm39) |
F555S |
probably damaging |
Het |
Zfp141 |
A |
T |
7: 42,125,705 (GRCm39) |
S256T |
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 |
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 |
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'- ATCCCATTATGCTGCCTGC -3'
(R):5'- AACTCCCTAGTAGAGCAGGTGC -3'
Sequencing Primer
(F):5'- TTTCGGAAAGGCCTCCCTAAG -3'
(R):5'- CGTGTCCTGGGCCTCCTAC -3'
|
Posted On |
2015-06-10 |