Incidental Mutation 'R4175:Elp5'
ID |
318273 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Elp5
|
Ensembl Gene |
ENSMUSG00000018565 |
Gene Name |
elongator acetyltransferase complex subunit 5 |
Synonyms |
Rai12, Clone 13u |
MMRRC Submission |
041013-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.940)
|
Stock # |
R4175 (G1)
|
Quality Score |
225 |
Status
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
96% (46/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd63 |
T |
C |
2: 118,533,100 (GRCm39) |
M274V |
probably benign |
Het |
Ano6 |
A |
T |
15: 95,860,050 (GRCm39) |
D724V |
probably damaging |
Het |
Apobec3 |
A |
G |
15: 79,779,653 (GRCm39) |
N43S |
probably damaging |
Het |
Arfgef1 |
T |
C |
1: 10,229,861 (GRCm39) |
H1280R |
probably damaging |
Het |
Cbfa2t3 |
C |
T |
8: 123,370,057 (GRCm39) |
V139M |
probably damaging |
Het |
Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
Clmp |
A |
T |
9: 40,682,432 (GRCm39) |
N72I |
probably benign |
Het |
Col11a1 |
A |
C |
3: 114,001,872 (GRCm39) |
D432A |
possibly damaging |
Het |
Creb3l1 |
A |
G |
2: 91,813,520 (GRCm39) |
F506L |
probably benign |
Het |
Ctbp1 |
A |
G |
5: 33,424,250 (GRCm39) |
S47P |
probably damaging |
Het |
Dus1l |
G |
A |
11: 120,686,506 (GRCm39) |
R12C |
possibly damaging |
Het |
Epb41l4b |
A |
G |
4: 57,076,556 (GRCm39) |
V326A |
probably damaging |
Het |
Fhdc1 |
T |
C |
3: 84,364,294 (GRCm39) |
|
probably benign |
Het |
Gm27013 |
T |
A |
6: 130,654,110 (GRCm39) |
T451S |
probably benign |
Het |
Ifi208 |
A |
T |
1: 173,510,267 (GRCm39) |
M141L |
probably benign |
Het |
Inpp5e |
A |
G |
2: 26,290,937 (GRCm39) |
S377P |
probably damaging |
Het |
Kat2a |
A |
G |
11: 100,596,092 (GRCm39) |
L822P |
probably damaging |
Het |
Kcnip2 |
G |
C |
19: 45,800,654 (GRCm39) |
T24S |
probably benign |
Het |
Med17 |
A |
G |
9: 15,178,765 (GRCm39) |
Y469H |
possibly damaging |
Het |
Mindy3 |
C |
T |
2: 12,410,676 (GRCm39) |
C77Y |
probably damaging |
Het |
Mmp1a |
A |
G |
9: 7,467,236 (GRCm39) |
T271A |
probably benign |
Het |
Ncor2 |
A |
T |
5: 125,128,020 (GRCm39) |
S118T |
probably damaging |
Het |
Or5ak24 |
A |
T |
2: 85,260,962 (GRCm39) |
D70E |
probably damaging |
Het |
Osmr |
A |
T |
15: 6,882,027 (GRCm39) |
V39D |
probably damaging |
Het |
Pcdh15 |
G |
A |
10: 74,467,829 (GRCm39) |
|
probably benign |
Het |
Pclo |
A |
G |
5: 14,763,889 (GRCm39) |
K836E |
probably damaging |
Het |
Phaf1 |
T |
C |
8: 105,967,763 (GRCm39) |
L218P |
probably benign |
Het |
Pik3r1 |
A |
T |
13: 101,838,240 (GRCm39) |
L272H |
probably damaging |
Het |
Pik3r1 |
G |
A |
13: 101,838,241 (GRCm39) |
L272F |
probably benign |
Het |
Prrc2b |
G |
GCT |
2: 32,108,820 (GRCm39) |
|
probably benign |
Het |
Ptprq |
T |
G |
10: 107,547,778 (GRCm39) |
I207L |
probably benign |
Het |
Rasa2 |
G |
T |
9: 96,442,830 (GRCm39) |
T531K |
probably benign |
Het |
Six4 |
G |
A |
12: 73,155,605 (GRCm39) |
T454I |
probably damaging |
Het |
Slc26a6 |
G |
A |
9: 108,731,416 (GRCm39) |
|
probably benign |
Het |
Slc7a13 |
G |
A |
4: 19,819,492 (GRCm39) |
G231R |
probably null |
Het |
Slco3a1 |
T |
A |
7: 73,968,302 (GRCm39) |
N473Y |
probably damaging |
Het |
Tapt1 |
G |
A |
5: 44,334,447 (GRCm39) |
L515F |
probably benign |
Het |
Tmem145 |
T |
C |
7: 25,008,218 (GRCm39) |
I253T |
probably benign |
Het |
Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
Unc13a |
A |
G |
8: 72,120,368 (GRCm39) |
|
probably benign |
Het |
Usp24 |
T |
C |
4: 106,173,970 (GRCm39) |
V101A |
probably benign |
Het |
Zfp36l3 |
T |
C |
X: 52,777,840 (GRCm39) |
T125A |
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 |
|
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 |
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'- CATCCCATTATGCTGCCTGC -3'
(R):5'- AACTCCCTAGTAGAGCAGGTG -3'
Sequencing Primer
(F):5'- TTTCGGAAAGGCCTCCCTAAG -3'
(R):5'- CAGGTGCGTGTCCTGGG -3'
|
Posted On |
2015-06-10 |