Incidental Mutation 'R7830:Efr3a'
| ID |
602397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efr3a
|
| Ensembl Gene |
ENSMUSG00000015002 |
| Gene Name |
EFR3 homolog A |
| Synonyms |
C920006C10Rik, D030063F01Rik, A130089M23Rik |
| MMRRC Submission |
045884-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.410)
|
| Stock # |
R7830 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
65658883-65745665 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 65701679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 198
(V198I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015146
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015146]
[ENSMUST00000172756]
[ENSMUST00000173858]
[ENSMUST00000211878]
|
| AlphaFold |
Q8BG67 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015146
AA Change: V198I
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000015146
Gene: ENSMUSG00000015002
AA Change: V198I
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
226 |
584 |
5e-4 |
SMART |
|
low complexity region
|
709 |
720 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172756
|
| SMART Domains |
Protein: ENSMUSP00000134683
Gene: ENSMUSG00000015002
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4N5A|A
|
10 |
112 |
3e-6 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173858
AA Change: V198I
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000134385
Gene: ENSMUSG00000015002
AA Change: V198I
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
226 |
584 |
8e-4 |
SMART |
|
low complexity region
|
709 |
720 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211878
AA Change: V225I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Meta Mutation Damage Score |
0.0748 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat3 |
T |
C |
10: 80,442,654 (GRCm39) |
L164P |
probably damaging |
Het |
| Aldh16a1 |
A |
T |
7: 44,795,649 (GRCm39) |
L388Q |
probably damaging |
Het |
| Angpt1 |
T |
C |
15: 42,539,664 (GRCm39) |
N65S |
probably damaging |
Het |
| Ankrd54 |
G |
A |
15: 78,938,250 (GRCm39) |
T287I |
probably damaging |
Het |
| Bltp1 |
CCAGATTCATGTAGCA |
CCA |
3: 37,019,081 (GRCm39) |
|
probably null |
Het |
| Cc2d2b |
T |
A |
19: 40,753,801 (GRCm39) |
V108E |
possibly damaging |
Het |
| Cd200l1 |
A |
T |
16: 45,262,917 (GRCm39) |
I187N |
probably damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,469,245 (GRCm39) |
D609V |
probably damaging |
Het |
| Col6a4 |
G |
T |
9: 105,952,589 (GRCm39) |
D436E |
probably damaging |
Het |
| Cul9 |
A |
T |
17: 46,851,237 (GRCm39) |
D394E |
probably benign |
Het |
| Cyfip1 |
A |
G |
7: 55,523,210 (GRCm39) |
E75G |
probably damaging |
Het |
| Eif2ak2 |
C |
T |
17: 79,173,832 (GRCm39) |
G249S |
probably damaging |
Het |
| Erich4 |
A |
T |
7: 25,315,149 (GRCm39) |
M42K |
probably benign |
Het |
| Fig4 |
A |
C |
10: 41,132,462 (GRCm39) |
V448G |
probably benign |
Het |
| Gas1 |
T |
C |
13: 60,323,848 (GRCm39) |
D303G |
probably damaging |
Het |
| Golgb1 |
T |
G |
16: 36,719,083 (GRCm39) |
Y330D |
possibly damaging |
Het |
| Gpr146 |
C |
T |
5: 139,378,357 (GRCm39) |
A53V |
probably benign |
Het |
| Klk1b27 |
A |
C |
7: 43,705,150 (GRCm39) |
M106L |
probably benign |
Het |
| Lipc |
T |
C |
9: 70,720,183 (GRCm39) |
T190A |
probably damaging |
Het |
| Lrrc4b |
A |
G |
7: 44,111,231 (GRCm39) |
I368V |
possibly damaging |
Het |
| Mmp10 |
A |
T |
9: 7,507,284 (GRCm39) |
Q368L |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,738,057 (GRCm39) |
Y501* |
probably null |
Het |
| Neb |
T |
A |
2: 52,055,201 (GRCm39) |
H6445L |
probably benign |
Het |
| Numa1 |
T |
A |
7: 101,648,492 (GRCm39) |
M741K |
probably benign |
Het |
| Nxn |
T |
A |
11: 76,164,819 (GRCm39) |
I231F |
probably damaging |
Het |
| Or1j13 |
A |
G |
2: 36,369,392 (GRCm39) |
L250P |
probably damaging |
Het |
| Or5b116 |
T |
C |
19: 13,422,985 (GRCm39) |
L203S |
probably benign |
Het |
| Osbp2 |
A |
G |
11: 3,813,414 (GRCm39) |
S152P |
probably benign |
Het |
| P3h4 |
T |
C |
11: 100,304,869 (GRCm39) |
T173A |
probably damaging |
Het |
| Pcdh15 |
C |
A |
10: 74,221,733 (GRCm39) |
R678S |
probably damaging |
Het |
| Pcdhb6 |
C |
A |
18: 37,469,365 (GRCm39) |
T762K |
probably benign |
Het |
| Pnrc1 |
G |
A |
4: 33,248,057 (GRCm39) |
P114L |
probably damaging |
Het |
| Ppp3ca |
T |
A |
3: 136,574,481 (GRCm39) |
S126R |
probably damaging |
Het |
| Prl3d2 |
C |
T |
13: 27,310,000 (GRCm39) |
T155I |
probably benign |
Het |
| Prune2 |
C |
A |
19: 17,100,038 (GRCm39) |
N1847K |
probably benign |
Het |
| Psg21 |
A |
T |
7: 18,381,223 (GRCm39) |
V440E |
probably damaging |
Het |
| Rag1 |
A |
G |
2: 101,472,404 (GRCm39) |
S913P |
probably damaging |
Het |
| Rmc1 |
A |
G |
18: 12,301,928 (GRCm39) |
N24S |
probably benign |
Het |
| Ros1 |
T |
A |
10: 52,031,030 (GRCm39) |
H525L |
probably damaging |
Het |
| Scarb1 |
T |
C |
5: 125,364,447 (GRCm39) |
Y94C |
probably damaging |
Het |
| Serpinb6a |
T |
G |
13: 34,114,030 (GRCm39) |
D120A |
probably benign |
Het |
| Sik3 |
ACAGCAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCAGCA |
9: 46,123,355 (GRCm39) |
|
probably benign |
Het |
| Slc39a14 |
T |
C |
14: 70,547,566 (GRCm39) |
D299G |
probably benign |
Het |
| Sox1 |
G |
A |
8: 12,446,955 (GRCm39) |
A199T |
probably damaging |
Het |
| Strc |
T |
A |
2: 121,205,530 (GRCm39) |
I867F |
probably damaging |
Het |
| Tfrc |
A |
G |
16: 32,437,985 (GRCm39) |
K346R |
probably benign |
Het |
| Usf3 |
C |
T |
16: 44,040,142 (GRCm39) |
Q1541* |
probably null |
Het |
| Wrn |
G |
A |
8: 33,759,082 (GRCm39) |
L716F |
probably damaging |
Het |
| Zfp141 |
G |
A |
7: 42,124,612 (GRCm39) |
T620I |
probably benign |
Het |
| Zfp354b |
A |
T |
11: 50,814,136 (GRCm39) |
I263K |
probably benign |
Het |
| Zfp804b |
T |
A |
5: 6,821,124 (GRCm39) |
E646D |
probably benign |
Het |
| Zfp970 |
G |
T |
2: 177,167,338 (GRCm39) |
C304F |
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 |
|
R4797:Efr3a
|
UTSW |
15 |
65,729,437 (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 |
|
|
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'- CCTGTAGATTACTGCCTTTGAACTTAC -3'
(R):5'- AGAACTTTAGTTAAGGCAACTCCAAGC -3'
Sequencing Primer
(F):5'- TTACGGTTGAGAGAGCAATATCAAC -3'
(R):5'- CAAGCTGTCCAAATCAGGTATCTAG -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation