Incidental Mutation 'R8388:Efr3a'
| ID |
647255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efr3a
|
| Ensembl Gene |
ENSMUSG00000015002 |
| Gene Name |
EFR3 homolog A |
| Synonyms |
C920006C10Rik, D030063F01Rik, A130089M23Rik |
| MMRRC Submission |
067753-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.354)
|
| Stock # |
R8388 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
65658883-65745665 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65738671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 767
(S767P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015146
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015146]
[ENSMUST00000173858]
[ENSMUST00000211878]
|
| AlphaFold |
Q8BG67 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015146
AA Change: S767P
PolyPhen 2
Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000015146
Gene: ENSMUSG00000015002
AA Change: S767P
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
226 |
584 |
5e-4 |
SMART |
|
low complexity region
|
709 |
720 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173858
AA Change: S767P
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000134385
Gene: ENSMUSG00000015002
AA Change: S767P
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
226 |
584 |
8e-4 |
SMART |
|
low complexity region
|
709 |
720 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211878
AA Change: S794P
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430015G10Rik |
T |
A |
4: 156,209,888 (GRCm39) |
Y173N |
probably damaging |
Het |
| A2ml1 |
T |
C |
6: 128,548,937 (GRCm39) |
T282A |
probably benign |
Het |
| Adamdec1 |
A |
T |
14: 68,810,684 (GRCm39) |
Y157* |
probably null |
Het |
| Adgre5 |
A |
G |
8: 84,456,815 (GRCm39) |
Y189H |
probably damaging |
Het |
| Alg11 |
G |
A |
8: 22,552,050 (GRCm39) |
V65I |
probably benign |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Camk2b |
C |
T |
11: 5,939,026 (GRCm39) |
V278M |
probably damaging |
Het |
| Ccdc57 |
G |
A |
11: 120,717,744 (GRCm39) |
P950L |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,180,582 (GRCm39) |
V683D |
probably damaging |
Het |
| Chd6 |
A |
T |
2: 160,861,571 (GRCm39) |
I493N |
probably damaging |
Het |
| Cyfip1 |
A |
G |
7: 55,521,873 (GRCm39) |
Y59C |
probably damaging |
Het |
| Dclk3 |
A |
G |
9: 111,311,813 (GRCm39) |
E685G |
probably damaging |
Het |
| Edaradd |
A |
T |
13: 12,498,484 (GRCm39) |
S78T |
probably benign |
Het |
| Edc4 |
T |
C |
8: 106,614,139 (GRCm39) |
V430A |
probably damaging |
Het |
| Enkd1 |
T |
C |
8: 106,431,025 (GRCm39) |
Q234R |
probably damaging |
Het |
| Ercc6 |
ACGGTACCG |
ACGGTACCGGTACCG |
14: 32,292,297 (GRCm39) |
|
probably benign |
Het |
| Hipk2 |
T |
A |
6: 38,722,630 (GRCm39) |
Y468F |
probably damaging |
Het |
| Ifi207 |
GTT |
GT |
1: 173,557,016 (GRCm39) |
|
probably null |
Het |
| Kcna5 |
A |
G |
6: 126,511,588 (GRCm39) |
V180A |
probably benign |
Het |
| Kcnb1 |
T |
C |
2: 166,947,217 (GRCm39) |
I544V |
probably benign |
Het |
| Kif21a |
A |
G |
15: 90,843,327 (GRCm39) |
S1119P |
possibly damaging |
Het |
| Klk13 |
T |
C |
7: 43,373,235 (GRCm39) |
C190R |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,794,562 (GRCm39) |
S2749P |
probably benign |
Het |
| Mpeg1 |
T |
C |
19: 12,440,278 (GRCm39) |
S579P |
probably damaging |
Het |
| Msh3 |
A |
T |
13: 92,359,784 (GRCm39) |
I903K |
probably damaging |
Het |
| Or4s2 |
T |
A |
2: 88,473,305 (GRCm39) |
S65T |
probably damaging |
Het |
| Ptx4 |
T |
C |
17: 25,339,897 (GRCm39) |
S25P |
probably damaging |
Het |
| Sipa1l1 |
G |
T |
12: 82,216,259 (GRCm39) |
|
probably benign |
Het |
| Slfn9 |
G |
C |
11: 82,878,112 (GRCm39) |
T339R |
probably benign |
Het |
| Srsf12 |
C |
G |
4: 33,226,070 (GRCm39) |
P111R |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,065,237 (GRCm39) |
I1556V |
probably benign |
Het |
| Ttc14 |
A |
G |
3: 33,854,735 (GRCm39) |
N21D |
probably benign |
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 |
|
|
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 |
|
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'- CATTGTGCTGTGGAGCTTTAAC -3'
(R):5'- AGCTTAGGATCTGCCATTCCC -3'
Sequencing Primer
(F):5'- GAGTAAAAGTGGTCCTTTAATCACTC -3'
(R):5'- TAGGATCTGCCATTCCCACCAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation