Incidental Mutation 'R4797:Efr3a'
| ID |
369163 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efr3a
|
| Ensembl Gene |
ENSMUSG00000015002 |
| Gene Name |
EFR3 homolog A |
| Synonyms |
C920006C10Rik, D030063F01Rik, A130089M23Rik |
| MMRRC Submission |
042421-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.354)
|
| Stock # |
R4797 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
65658883-65745665 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65729437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 713
(T713A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015146]
[ENSMUST00000173858]
[ENSMUST00000211878]
|
| AlphaFold |
Q8BG67 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015146
AA Change: T686A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000015146
Gene: ENSMUSG00000015002
AA Change: T686A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
226 |
584 |
5e-4 |
SMART |
|
low complexity region
|
709 |
720 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173858
AA Change: T686A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134385
Gene: ENSMUSG00000015002
AA Change: T686A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
226 |
584 |
8e-4 |
SMART |
|
low complexity region
|
709 |
720 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173936
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174002
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174615
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174749
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211878
AA Change: T713A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227340
|
| Meta Mutation Damage Score |
0.2046 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
96% (69/72) |
| 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 part of a complex that plays a role in maintaining an active pool of phosphatidylinositol 4-kinase (PI4K) at the plasma membrane. This protein is thought to be a peripheral membrane protein that associates with the plasma membrane through palmitoylation. Studies indicate that this gene product plays a role in controlling G protein-coupled receptor (GPCR) activity by affecting receptor phosphorylation. Whole exome sequencing studies have implicated mutations in this gene with autism spectrum disorders. [provided by RefSeq, Apr 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,008,945 (GRCm39) |
T1195A |
probably benign |
Het |
| Apobr |
G |
A |
7: 126,186,756 (GRCm39) |
E756K |
probably benign |
Het |
| Arpc3 |
A |
G |
5: 122,542,215 (GRCm39) |
E77G |
possibly damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,766,847 (GRCm39) |
M464K |
possibly damaging |
Het |
| Atxn7l2 |
A |
G |
3: 108,111,866 (GRCm39) |
S379P |
probably damaging |
Het |
| Ccdc91 |
A |
T |
6: 147,493,641 (GRCm39) |
E344D |
unknown |
Het |
| Cdc42bpg |
G |
A |
19: 6,370,477 (GRCm39) |
R1190Q |
probably damaging |
Het |
| Cdh17 |
C |
A |
4: 11,810,390 (GRCm39) |
Q694K |
probably benign |
Het |
| Chordc1 |
G |
T |
9: 18,203,672 (GRCm39) |
|
probably benign |
Het |
| Copg1 |
A |
G |
6: 87,880,450 (GRCm39) |
|
probably benign |
Het |
| Dcbld1 |
T |
C |
10: 52,160,223 (GRCm39) |
V37A |
probably damaging |
Het |
| Ddb2 |
A |
G |
2: 91,067,163 (GRCm39) |
|
probably benign |
Het |
| Dok5 |
A |
T |
2: 170,672,042 (GRCm39) |
R115* |
probably null |
Het |
| Drc7 |
T |
C |
8: 95,800,925 (GRCm39) |
I649T |
probably damaging |
Het |
| Epg5 |
G |
A |
18: 78,073,614 (GRCm39) |
D2494N |
probably benign |
Het |
| Eps15 |
G |
A |
4: 109,223,727 (GRCm39) |
|
probably benign |
Het |
| Glb1l3 |
T |
C |
9: 26,739,742 (GRCm39) |
D356G |
probably damaging |
Het |
| Gm1818 |
A |
T |
12: 48,602,393 (GRCm39) |
|
noncoding transcript |
Het |
| Gsta5 |
A |
T |
9: 78,211,679 (GRCm39) |
Y147F |
probably benign |
Het |
| Hcrtr2 |
C |
A |
9: 76,161,816 (GRCm39) |
M191I |
probably damaging |
Het |
| Heatr1 |
G |
A |
13: 12,426,929 (GRCm39) |
E685K |
probably benign |
Het |
| Hsd3b2 |
A |
T |
3: 98,618,979 (GRCm39) |
L322Q |
probably damaging |
Het |
| Hsd3b9 |
T |
A |
3: 98,363,747 (GRCm39) |
R62* |
probably null |
Het |
| Htra4 |
T |
C |
8: 25,523,675 (GRCm39) |
T297A |
probably damaging |
Het |
| Il22 |
C |
A |
10: 118,041,058 (GRCm39) |
R55S |
probably damaging |
Het |
| Ints1 |
G |
A |
5: 139,757,631 (GRCm39) |
T324M |
possibly damaging |
Het |
| Ints15 |
A |
G |
5: 143,297,504 (GRCm39) |
F181S |
probably benign |
Het |
| Ints7 |
T |
C |
1: 191,329,045 (GRCm39) |
V268A |
probably damaging |
Het |
| Kctd20 |
G |
A |
17: 29,185,766 (GRCm39) |
V370I |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,023,770 (GRCm39) |
M55K |
probably benign |
Het |
| Larp1 |
C |
A |
11: 57,938,806 (GRCm39) |
S494* |
probably null |
Het |
| Ldb3 |
A |
T |
14: 34,277,470 (GRCm39) |
H262Q |
possibly damaging |
Het |
| Lepr |
C |
A |
4: 101,637,244 (GRCm39) |
T711K |
possibly damaging |
Het |
| Mon2 |
T |
C |
10: 122,852,422 (GRCm39) |
I984V |
probably benign |
Het |
| Naip2 |
T |
A |
13: 100,298,243 (GRCm39) |
S598C |
probably damaging |
Het |
| Oasl1 |
A |
G |
5: 115,066,217 (GRCm39) |
M112V |
probably benign |
Het |
| Or2d2b |
A |
T |
7: 106,705,234 (GRCm39) |
M278K |
probably benign |
Het |
| Or6c214 |
A |
T |
10: 129,590,390 (GRCm39) |
S310T |
probably benign |
Het |
| Or7c19 |
G |
T |
8: 85,957,567 (GRCm39) |
A148S |
probably benign |
Het |
| P2ry1 |
T |
A |
3: 60,910,881 (GRCm39) |
S7T |
probably benign |
Het |
| Pidd1 |
G |
T |
7: 141,022,899 (GRCm39) |
R98S |
possibly damaging |
Het |
| Pkd1l1 |
A |
C |
11: 8,911,340 (GRCm39) |
F312L |
unknown |
Het |
| Pla2r1 |
A |
T |
2: 60,334,524 (GRCm39) |
M416K |
possibly damaging |
Het |
| Pold1 |
T |
C |
7: 44,191,325 (GRCm39) |
E194G |
possibly damaging |
Het |
| Poldip2 |
T |
A |
11: 78,404,813 (GRCm39) |
Y77N |
probably damaging |
Het |
| Ppp2r3d |
G |
T |
9: 101,089,179 (GRCm39) |
N381K |
probably benign |
Het |
| Prrc2a |
G |
A |
17: 35,369,018 (GRCm39) |
P2006L |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rsu1 |
A |
G |
2: 13,221,537 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
T |
A |
5: 30,457,740 (GRCm39) |
W90R |
probably damaging |
Het |
| Spag17 |
T |
A |
3: 99,891,795 (GRCm39) |
D216E |
possibly damaging |
Het |
| Spata31 |
C |
A |
13: 65,070,556 (GRCm39) |
Y901* |
probably null |
Het |
| Ssrp1 |
T |
A |
2: 84,876,066 (GRCm39) |
Y607* |
probably null |
Het |
| Stk10 |
T |
A |
11: 32,548,471 (GRCm39) |
N346K |
probably benign |
Het |
| Surf1 |
G |
T |
2: 26,806,358 (GRCm39) |
|
probably benign |
Het |
| Synj2 |
A |
T |
17: 6,084,163 (GRCm39) |
E283V |
probably damaging |
Het |
| Tg |
G |
A |
15: 66,629,855 (GRCm39) |
|
probably null |
Het |
| Traf1 |
A |
T |
2: 34,846,289 (GRCm39) |
D42E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,571,209 (GRCm39) |
I26561M |
probably damaging |
Het |
| Ubp1 |
T |
C |
9: 113,785,070 (GRCm39) |
Y128H |
probably damaging |
Het |
| Vmn1r216 |
T |
A |
13: 23,283,506 (GRCm39) |
I63K |
probably benign |
Het |
| Vmn1r49 |
T |
A |
6: 90,049,612 (GRCm39) |
H130L |
probably benign |
Het |
| Vmn2r90 |
C |
T |
17: 17,932,567 (GRCm39) |
T158I |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,780,725 (GRCm39) |
S885G |
probably damaging |
Het |
|
| Other mutations in Efr3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00642:Efr3a
|
APN |
15 |
65,727,266 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL01070:Efr3a
|
APN |
15 |
65,724,927 (GRCm39) |
missense |
probably benign |
|
|
IGL01366:Efr3a
|
APN |
15 |
65,722,999 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01754:Efr3a
|
APN |
15 |
65,726,569 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02121:Efr3a
|
APN |
15 |
65,742,999 (GRCm39) |
splice site |
probably benign |
|
|
BB007:Efr3a
|
UTSW |
15 |
65,733,589 (GRCm39) |
missense |
probably benign |
|
|
BB017:Efr3a
|
UTSW |
15 |
65,733,589 (GRCm39) |
missense |
probably benign |
|
|
R0096:Efr3a
|
UTSW |
15 |
65,727,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0096:Efr3a
|
UTSW |
15 |
65,727,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0139:Efr3a
|
UTSW |
15 |
65,717,830 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0449:Efr3a
|
UTSW |
15 |
65,714,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0786:Efr3a
|
UTSW |
15 |
65,725,400 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0827:Efr3a
|
UTSW |
15 |
65,725,400 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0843:Efr3a
|
UTSW |
15 |
65,709,272 (GRCm39) |
splice site |
probably benign |
|
|
R1433:Efr3a
|
UTSW |
15 |
65,740,906 (GRCm39) |
intron |
probably benign |
|
|
R1572:Efr3a
|
UTSW |
15 |
65,726,641 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2290:Efr3a
|
UTSW |
15 |
65,721,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2764:Efr3a
|
UTSW |
15 |
65,721,619 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4170:Efr3a
|
UTSW |
15 |
65,717,831 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4368:Efr3a
|
UTSW |
15 |
65,738,629 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4683:Efr3a
|
UTSW |
15 |
65,691,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5495:Efr3a
|
UTSW |
15 |
65,687,258 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6262:Efr3a
|
UTSW |
15 |
65,729,323 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6552:Efr3a
|
UTSW |
15 |
65,729,339 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6825:Efr3a
|
UTSW |
15 |
65,701,679 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6833:Efr3a
|
UTSW |
15 |
65,714,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6852:Efr3a
|
UTSW |
15 |
65,701,679 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6853:Efr3a
|
UTSW |
15 |
65,701,679 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6996:Efr3a
|
UTSW |
15 |
65,720,030 (GRCm39) |
nonsense |
probably null |
|
|
R7327:Efr3a
|
UTSW |
15 |
65,691,627 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7467:Efr3a
|
UTSW |
15 |
65,729,360 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7549:Efr3a
|
UTSW |
15 |
65,687,262 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7671:Efr3a
|
UTSW |
15 |
65,709,283 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7810:Efr3a
|
UTSW |
15 |
65,659,022 (GRCm39) |
start gained |
probably benign |
|
|
R7830:Efr3a
|
UTSW |
15 |
65,701,679 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7832:Efr3a
|
UTSW |
15 |
65,701,679 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7900:Efr3a
|
UTSW |
15 |
65,719,984 (GRCm39) |
splice site |
probably null |
|
|
R7904:Efr3a
|
UTSW |
15 |
65,696,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7930:Efr3a
|
UTSW |
15 |
65,733,589 (GRCm39) |
missense |
probably benign |
|
|
R8115:Efr3a
|
UTSW |
15 |
65,738,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8244:Efr3a
|
UTSW |
15 |
65,687,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8388:Efr3a
|
UTSW |
15 |
65,738,671 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8859:Efr3a
|
UTSW |
15 |
65,726,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9732:Efr3a
|
UTSW |
15 |
65,720,139 (GRCm39) |
missense |
probably benign |
0.39 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTAGAAATCCTTGCTGTCTTAC -3'
(R):5'- GCTTTGGGCCTGAAGAAAAGAC -3'
Sequencing Primer
(F):5'- AGAAATCCTTGCTGTCTTACCTAATC -3'
(R):5'- CCTACGTATGAAAGGATTGATC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation