Incidental Mutation 'PIT4531001:Elp2'
| ID |
556479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elp2
|
| Ensembl Gene |
ENSMUSG00000024271 |
| Gene Name |
elongator acetyltransferase complex subunit 2 |
| Synonyms |
Statip1, Stat3-interacting protein, StIP1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
PIT4531001 (G1)
|
| Quality Score |
207.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
24737018-24771887 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24737170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 40
(V40A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025120]
[ENSMUST00000070726]
[ENSMUST00000152504]
[ENSMUST00000154205]
|
| AlphaFold |
Q91WG4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025120
AA Change: V40A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025120
Gene: ENSMUSG00000024271
AA Change: V40A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
47 |
91 |
1.06e-3 |
SMART |
|
WD40
|
94 |
143 |
2.24e-2 |
SMART |
|
WD40
|
196 |
237 |
4.69e-5 |
SMART |
|
WD40
|
271 |
319 |
2.44e-3 |
SMART |
|
Blast:WD40
|
329 |
368 |
1e-20 |
BLAST |
|
WD40
|
376 |
415 |
2.12e-3 |
SMART |
|
WD40
|
429 |
467 |
1.71e1 |
SMART |
|
WD40
|
556 |
600 |
7.43e-1 |
SMART |
|
WD40
|
603 |
642 |
1.93e-6 |
SMART |
|
WD40
|
661 |
697 |
1.55e-5 |
SMART |
|
Blast:WD40
|
709 |
753 |
7e-21 |
BLAST |
|
WD40
|
766 |
825 |
1.92e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070726
|
| SMART Domains |
Protein: ENSMUSP00000064667
Gene: ENSMUSG00000024270
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
198 |
N/A |
INTRINSIC |
|
Pfam:Zip
|
332 |
753 |
3e-104 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152504
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154205
|
| SMART Domains |
Protein: ENSMUSP00000122151
Gene: ENSMUSG00000024270
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Zip
|
48 |
433 |
2e-94 |
PFAM |
|
| Coding Region Coverage |
- 1x: 93.0%
- 3x: 90.6%
- 10x: 84.3%
- 20x: 70.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a core subunit of the elongator complex, a histone acetyltransferase complex that associates with RNA polymerase II. In addition to histone acetylation, the encoded protein effects transcriptional elongation and may help remodel chromatin. [provided by RefSeq, May 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adpgk |
T |
G |
9: 59,217,600 (GRCm39) |
D204E |
probably damaging |
Het |
| Aqr |
C |
A |
2: 113,961,215 (GRCm39) |
V682L |
possibly damaging |
Het |
| Bmper |
A |
T |
9: 23,136,113 (GRCm39) |
N65Y |
possibly damaging |
Het |
| Calb1 |
T |
C |
4: 15,900,925 (GRCm39) |
L171P |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,892,415 (GRCm39) |
M217V |
probably damaging |
Het |
| Col11a2 |
A |
G |
17: 34,265,412 (GRCm39) |
|
probably null |
Het |
| Dpm1 |
T |
C |
2: 168,052,472 (GRCm39) |
T255A |
probably benign |
Het |
| Efhb |
A |
G |
17: 53,752,803 (GRCm39) |
Y440H |
probably damaging |
Het |
| Far2 |
A |
T |
6: 148,076,629 (GRCm39) |
N491Y |
possibly damaging |
Het |
| Frem1 |
T |
A |
4: 82,868,517 (GRCm39) |
H1488L |
probably benign |
Het |
| Frrs1l |
C |
A |
4: 56,990,144 (GRCm39) |
R43L |
unknown |
Het |
| Galnt3 |
G |
A |
2: 65,937,432 (GRCm39) |
R93C |
probably benign |
Het |
| Gm8225 |
A |
G |
17: 26,762,363 (GRCm39) |
T185A |
possibly damaging |
Het |
| H2-Q1 |
T |
C |
17: 35,539,892 (GRCm39) |
F54L |
probably benign |
Het |
| H2-Q1 |
A |
T |
17: 35,540,055 (GRCm39) |
Q108L |
probably damaging |
Het |
| Hoxc12 |
T |
G |
15: 102,846,855 (GRCm39) |
L249W |
probably damaging |
Het |
| Lrrc75b |
A |
T |
10: 75,393,099 (GRCm39) |
H83Q |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,576,391 (GRCm39) |
T1964S |
unknown |
Het |
| Nob1 |
T |
C |
8: 108,145,049 (GRCm39) |
D142G |
probably benign |
Het |
| Or2y1d |
T |
C |
11: 49,321,753 (GRCm39) |
V150A |
probably benign |
Het |
| Or4p19 |
A |
T |
2: 88,242,104 (GRCm39) |
H299Q |
probably benign |
Het |
| Or4p22 |
A |
T |
2: 88,317,601 (GRCm39) |
Y175F |
possibly damaging |
Het |
| Or5b24 |
G |
A |
19: 12,912,641 (GRCm39) |
D180N |
probably damaging |
Het |
| Or5d16 |
A |
G |
2: 87,773,571 (GRCm39) |
Y134H |
probably damaging |
Het |
| Patj |
A |
T |
4: 98,329,327 (GRCm39) |
N527I |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,805,096 (GRCm39) |
I543V |
|
Het |
| Ppp1r2 |
A |
T |
16: 31,077,279 (GRCm39) |
N150K |
probably damaging |
Het |
| Prl7d1 |
A |
T |
13: 27,894,161 (GRCm39) |
L135Q |
probably damaging |
Het |
| Ralgds |
G |
T |
2: 28,435,226 (GRCm39) |
E461* |
probably null |
Het |
| Ramac |
C |
T |
7: 81,417,327 (GRCm39) |
P9L |
possibly damaging |
Het |
| Rasa3 |
T |
A |
8: 13,655,887 (GRCm39) |
H116L |
probably benign |
Het |
| Sec24d |
C |
T |
3: 123,136,827 (GRCm39) |
P520L |
probably damaging |
Het |
| Sfmbt1 |
T |
G |
14: 30,518,283 (GRCm39) |
S376A |
probably benign |
Het |
| Sspo |
A |
G |
6: 48,458,173 (GRCm39) |
T3290A |
probably benign |
Het |
| Stk25 |
G |
A |
1: 93,552,346 (GRCm39) |
P345S |
probably benign |
Het |
| Sycp2l |
A |
G |
13: 41,300,148 (GRCm39) |
E454G |
probably null |
Het |
| Tecpr1 |
T |
C |
5: 144,150,885 (GRCm39) |
K308E |
probably damaging |
Het |
| Thtpa |
C |
T |
14: 55,332,962 (GRCm39) |
P16S |
probably damaging |
Het |
| Trim65 |
T |
A |
11: 116,018,535 (GRCm39) |
I247F |
possibly damaging |
Het |
| Trpc6 |
T |
G |
9: 8,610,149 (GRCm39) |
Y206D |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,703,307 (GRCm39) |
T9357I |
unknown |
Het |
| Ugt2b1 |
C |
A |
5: 87,074,342 (GRCm39) |
A6S |
probably benign |
Het |
| Vmn1r175 |
A |
G |
7: 23,508,603 (GRCm39) |
V8A |
possibly damaging |
Het |
| Vps13b |
T |
A |
15: 35,878,971 (GRCm39) |
I2990N |
probably damaging |
Het |
| Xirp2 |
G |
A |
2: 67,345,826 (GRCm39) |
R2689Q |
possibly damaging |
Het |
| Zfp831 |
T |
A |
2: 174,488,516 (GRCm39) |
Y1064N |
possibly damaging |
Het |
|
| Other mutations in Elp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01800:Elp2
|
APN |
18 |
24,750,548 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01909:Elp2
|
APN |
18 |
24,752,576 (GRCm39) |
splice site |
probably benign |
|
|
IGL01974:Elp2
|
APN |
18 |
24,759,260 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02243:Elp2
|
APN |
18 |
24,755,663 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL03049:Elp2
|
APN |
18 |
24,764,516 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03236:Elp2
|
APN |
18 |
24,755,300 (GRCm39) |
splice site |
probably benign |
|
|
IGL03380:Elp2
|
APN |
18 |
24,755,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
Camelid
|
UTSW |
18 |
24,758,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4283001:Elp2
|
UTSW |
18 |
24,755,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0119:Elp2
|
UTSW |
18 |
24,767,466 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0244:Elp2
|
UTSW |
18 |
24,764,528 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0299:Elp2
|
UTSW |
18 |
24,767,466 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0609:Elp2
|
UTSW |
18 |
24,759,213 (GRCm39) |
missense |
probably benign |
|
|
R0671:Elp2
|
UTSW |
18 |
24,745,499 (GRCm39) |
splice site |
probably benign |
|
|
R1531:Elp2
|
UTSW |
18 |
24,764,461 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1658:Elp2
|
UTSW |
18 |
24,750,470 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1673:Elp2
|
UTSW |
18 |
24,744,983 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2012:Elp2
|
UTSW |
18 |
24,764,515 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3861:Elp2
|
UTSW |
18 |
24,739,977 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4038:Elp2
|
UTSW |
18 |
24,767,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4396:Elp2
|
UTSW |
18 |
24,742,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4507:Elp2
|
UTSW |
18 |
24,759,177 (GRCm39) |
splice site |
probably null |
|
|
R4901:Elp2
|
UTSW |
18 |
24,752,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5389:Elp2
|
UTSW |
18 |
24,739,960 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5511:Elp2
|
UTSW |
18 |
24,745,507 (GRCm39) |
nonsense |
probably null |
|
|
R5633:Elp2
|
UTSW |
18 |
24,748,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5728:Elp2
|
UTSW |
18 |
24,750,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6585:Elp2
|
UTSW |
18 |
24,758,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6855:Elp2
|
UTSW |
18 |
24,739,934 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6877:Elp2
|
UTSW |
18 |
24,768,033 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7145:Elp2
|
UTSW |
18 |
24,737,126 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7163:Elp2
|
UTSW |
18 |
24,747,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7313:Elp2
|
UTSW |
18 |
24,742,716 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7318:Elp2
|
UTSW |
18 |
24,739,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7403:Elp2
|
UTSW |
18 |
24,752,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7497:Elp2
|
UTSW |
18 |
24,744,985 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8017:Elp2
|
UTSW |
18 |
24,739,920 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8019:Elp2
|
UTSW |
18 |
24,739,920 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9069:Elp2
|
UTSW |
18 |
24,765,833 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9402:Elp2
|
UTSW |
18 |
24,759,220 (GRCm39) |
missense |
probably benign |
|
|
R9427:Elp2
|
UTSW |
18 |
24,755,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9461:Elp2
|
UTSW |
18 |
24,765,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9719:Elp2
|
UTSW |
18 |
24,755,539 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGAGTAGTTCCGCTCTGGG -3'
(R):5'- GTCATCCTTGGGATTTCAGCCC -3'
Sequencing Primer
(F):5'- CTCTGGGGCGGAAGTGC -3'
(R):5'- GATTTCAGCCCGGGAATCAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation