Incidental Mutation 'R7671:Efr3a'
| ID |
592181 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efr3a
|
| Ensembl Gene |
ENSMUSG00000015002 |
| Gene Name |
EFR3 homolog A |
| Synonyms |
C920006C10Rik, D030063F01Rik, A130089M23Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.410)
|
| Stock # |
R7671 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
65658883-65745665 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
G to A
at 65709283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015146
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015146]
[ENSMUST00000015146]
[ENSMUST00000173858]
[ENSMUST00000211878]
|
| AlphaFold |
Q8BG67 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000015146
|
| SMART Domains |
Protein: ENSMUSP00000015146
Gene: ENSMUSG00000015002
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
226 |
584 |
5e-4 |
SMART |
|
low complexity region
|
709 |
720 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000015146
|
| SMART Domains |
Protein: ENSMUSP00000015146
Gene: ENSMUSG00000015002
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
226 |
584 |
5e-4 |
SMART |
|
low complexity region
|
709 |
720 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000173858
|
| SMART Domains |
Protein: ENSMUSP00000134385
Gene: ENSMUSG00000015002
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
226 |
584 |
8e-4 |
SMART |
|
low complexity region
|
709 |
720 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211878
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
C |
A |
7: 75,219,648 (GRCm39) |
T17K |
probably damaging |
Het |
| Ankrd29 |
T |
A |
18: 12,394,043 (GRCm39) |
K257I |
probably damaging |
Het |
| Bicc1 |
A |
G |
10: 70,792,997 (GRCm39) |
L219P |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 36,997,380 (GRCm39) |
F1146L |
probably damaging |
Het |
| Boc |
C |
T |
16: 44,312,212 (GRCm39) |
V617M |
|
Het |
| Ccl8 |
A |
G |
11: 82,006,033 (GRCm39) |
|
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,921,217 (GRCm39) |
L261P |
unknown |
Het |
| Col5a3 |
T |
A |
9: 20,686,382 (GRCm39) |
|
probably null |
Het |
| Cryba4 |
A |
C |
5: 112,396,039 (GRCm39) |
|
probably null |
Het |
| Csf2rb |
A |
G |
15: 78,223,130 (GRCm39) |
Y114C |
probably damaging |
Het |
| Ctif |
T |
C |
18: 75,605,087 (GRCm39) |
D484G |
probably damaging |
Het |
| Ctnnal1 |
A |
G |
4: 56,837,848 (GRCm39) |
F261L |
probably damaging |
Het |
| Defb22 |
A |
T |
2: 152,327,950 (GRCm39) |
N78K |
unknown |
Het |
| Dele1 |
T |
A |
18: 38,392,978 (GRCm39) |
I394N |
probably damaging |
Het |
| Elp4 |
G |
T |
2: 105,734,826 (GRCm39) |
A3E |
probably damaging |
Het |
| Emilin2 |
A |
G |
17: 71,580,905 (GRCm39) |
V607A |
probably benign |
Het |
| Epsti1 |
A |
G |
14: 78,141,930 (GRCm39) |
Y2C |
probably damaging |
Het |
| Fam81b |
A |
C |
13: 76,419,412 (GRCm39) |
L46R |
probably damaging |
Het |
| Fam81b |
G |
T |
13: 76,419,413 (GRCm39) |
L46I |
possibly damaging |
Het |
| Fbxo15 |
T |
A |
18: 84,982,278 (GRCm39) |
H288Q |
probably damaging |
Het |
| Gabrg1 |
T |
A |
5: 70,973,323 (GRCm39) |
N77I |
probably damaging |
Het |
| Ganab |
A |
G |
19: 8,890,216 (GRCm39) |
Y715C |
possibly damaging |
Het |
| H2bc27 |
T |
C |
11: 58,840,102 (GRCm39) |
S113P |
possibly damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,764,627 (GRCm39) |
D1539G |
probably damaging |
Het |
| Kcp |
T |
C |
6: 29,496,516 (GRCm39) |
N633S |
probably benign |
Het |
| Krt6a |
C |
A |
15: 101,598,978 (GRCm39) |
S529I |
unknown |
Het |
| Leo1 |
A |
G |
9: 75,352,844 (GRCm39) |
H129R |
probably benign |
Het |
| Lmf1 |
G |
A |
17: 25,798,323 (GRCm39) |
V55M |
possibly damaging |
Het |
| Mcm9 |
A |
G |
10: 53,413,665 (GRCm39) |
S472P |
probably benign |
Het |
| Med27 |
T |
A |
2: 29,267,950 (GRCm39) |
V33D |
|
Het |
| Mgat4f |
T |
C |
1: 134,317,800 (GRCm39) |
C191R |
probably benign |
Het |
| Mup15 |
C |
T |
4: 61,356,526 (GRCm39) |
E80K |
probably benign |
Het |
| Myo18a |
G |
A |
11: 77,750,246 (GRCm39) |
R199H |
|
Het |
| Nebl |
T |
A |
2: 17,395,727 (GRCm39) |
R558* |
probably null |
Het |
| Or10ak8 |
A |
T |
4: 118,774,183 (GRCm39) |
H160Q |
probably benign |
Het |
| Or11g7 |
G |
T |
14: 50,691,342 (GRCm39) |
V278L |
probably benign |
Het |
| Or12e9 |
A |
G |
2: 87,202,613 (GRCm39) |
T246A |
probably damaging |
Het |
| Or4a79 |
A |
T |
2: 89,551,603 (GRCm39) |
I284K |
probably damaging |
Het |
| Or5p78 |
T |
C |
7: 108,212,198 (GRCm39) |
I228T |
probably damaging |
Het |
| Or6c217 |
T |
C |
10: 129,738,222 (GRCm39) |
D119G |
probably damaging |
Het |
| Or8b41 |
A |
T |
9: 38,054,736 (GRCm39) |
M97L |
probably benign |
Het |
| Pde11a |
A |
T |
2: 76,045,697 (GRCm39) |
F376I |
possibly damaging |
Het |
| Prima1 |
A |
T |
12: 103,201,920 (GRCm39) |
C52S |
probably damaging |
Het |
| Pxn |
G |
A |
5: 115,686,606 (GRCm39) |
R366H |
not run |
Het |
| Sgce |
T |
C |
6: 4,691,564 (GRCm39) |
Y337C |
probably damaging |
Het |
| Slc25a10 |
T |
A |
11: 120,386,286 (GRCm39) |
M130K |
probably benign |
Het |
| Slc29a2 |
A |
T |
19: 5,074,290 (GRCm39) |
N5I |
probably benign |
Het |
| Slc35a1 |
A |
T |
4: 34,673,875 (GRCm39) |
H150Q |
|
Het |
| Slc5a4a |
T |
A |
10: 75,983,384 (GRCm39) |
V7D |
unknown |
Het |
| Stk17b |
T |
A |
1: 53,805,159 (GRCm39) |
D134V |
probably damaging |
Het |
| Tex55 |
C |
T |
16: 38,648,453 (GRCm39) |
D219N |
possibly damaging |
Het |
| Thbs3 |
T |
A |
3: 89,124,014 (GRCm39) |
S36T |
probably benign |
Het |
| Thsd4 |
A |
G |
9: 60,335,457 (GRCm39) |
S152P |
probably benign |
Het |
| Tmem67 |
G |
T |
4: 12,063,698 (GRCm39) |
H422N |
probably benign |
Het |
| Tram1 |
C |
A |
1: 13,659,868 (GRCm39) |
V27F |
probably damaging |
Het |
| Trim14 |
A |
G |
4: 46,507,238 (GRCm39) |
V326A |
possibly 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 |
|
|
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'- TGCTTAGCTCTGAGCATGCTAAG -3'
(R):5'- GGCAAGTGATGTAGTACATGGTATTC -3'
Sequencing Primer
(F):5'- CTCTGAGCATGCTAAGTTCATG -3'
(R):5'- GGATGCCCAATGTGACCTTCATG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation