Incidental Mutation 'R6833:Efr3a'
| ID |
534461 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efr3a
|
| Ensembl Gene |
ENSMUSG00000015002 |
| Gene Name |
EFR3 homolog A |
| Synonyms |
C920006C10Rik, D030063F01Rik, A130089M23Rik |
| MMRRC Submission |
044942-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.410)
|
| Stock # |
R6833 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
65658883-65745665 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 65714535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 301
(V301G)
|
| 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: V274G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000015146
Gene: ENSMUSG00000015002
AA Change: V274G
| 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: V274G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134385
Gene: ENSMUSG00000015002
AA Change: V274G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
226 |
584 |
8e-4 |
SMART |
|
low complexity region
|
709 |
720 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211878
AA Change: V301G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
96% (54/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
T |
A |
1: 11,658,733 (GRCm39) |
W215R |
probably damaging |
Het |
| Aco1 |
A |
G |
4: 40,164,747 (GRCm39) |
K79R |
probably benign |
Het |
| Adam28 |
C |
T |
14: 68,855,576 (GRCm39) |
A630T |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,439,480 (GRCm39) |
K1105E |
probably benign |
Het |
| Angptl1 |
A |
T |
1: 156,672,263 (GRCm39) |
I30L |
probably benign |
Het |
| Astn1 |
A |
T |
1: 158,491,692 (GRCm39) |
Q47L |
probably benign |
Het |
| Atf6b |
T |
C |
17: 34,868,131 (GRCm39) |
S135P |
probably damaging |
Het |
| Ccdc122 |
G |
T |
14: 77,326,371 (GRCm39) |
|
probably benign |
Het |
| Cers3 |
T |
C |
7: 66,429,419 (GRCm39) |
|
probably null |
Het |
| Dcaf10 |
T |
C |
4: 45,373,043 (GRCm39) |
C95R |
probably damaging |
Het |
| Dcxr |
A |
G |
11: 120,616,917 (GRCm39) |
Y149H |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 50,088,890 (GRCm39) |
I2790F |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,352,580 (GRCm39) |
C2578S |
probably benign |
Het |
| Dnttip2 |
T |
C |
3: 122,070,452 (GRCm39) |
S556P |
probably damaging |
Het |
| Eml5 |
A |
T |
12: 98,853,283 (GRCm39) |
H105Q |
probably damaging |
Het |
| Enpp3 |
T |
A |
10: 24,685,768 (GRCm39) |
H44L |
probably damaging |
Het |
| Fam120a |
A |
G |
13: 49,087,517 (GRCm39) |
V281A |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
| Ferd3l |
G |
A |
12: 33,978,537 (GRCm39) |
V17I |
probably damaging |
Het |
| Glb1l |
A |
G |
1: 75,178,397 (GRCm39) |
V347A |
possibly damaging |
Het |
| Gm4846 |
A |
T |
1: 166,322,147 (GRCm39) |
I140N |
possibly damaging |
Het |
| Gm9195 |
T |
C |
14: 72,671,856 (GRCm39) |
T2586A |
possibly damaging |
Het |
| Hsd17b8 |
T |
C |
17: 34,246,191 (GRCm39) |
S161G |
probably damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,881,393 (GRCm39) |
I250V |
probably benign |
Het |
| Il11ra1 |
A |
G |
4: 41,765,454 (GRCm39) |
H183R |
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,624,605 (GRCm39) |
C1450Y |
probably damaging |
Het |
| Lgals7 |
G |
A |
7: 28,565,087 (GRCm39) |
R75Q |
probably damaging |
Het |
| Lpcat3 |
A |
G |
6: 124,676,974 (GRCm39) |
Y124C |
probably damaging |
Het |
| Lrrc8a |
T |
A |
2: 30,145,659 (GRCm39) |
S158T |
possibly damaging |
Het |
| Mcm3 |
A |
T |
1: 20,880,320 (GRCm39) |
M504K |
possibly damaging |
Het |
| Mro |
G |
T |
18: 73,997,003 (GRCm39) |
|
probably benign |
Het |
| Mybpc3 |
A |
G |
2: 90,955,773 (GRCm39) |
|
probably null |
Het |
| Myh14 |
T |
A |
7: 44,273,803 (GRCm39) |
K1356* |
probably null |
Het |
| Myo5b |
A |
C |
18: 74,903,396 (GRCm39) |
Q1804P |
probably benign |
Het |
| Nol10 |
A |
G |
12: 17,402,728 (GRCm39) |
I67V |
probably benign |
Het |
| Pam |
T |
A |
1: 97,765,717 (GRCm39) |
I771F |
probably damaging |
Het |
| Pcdhgb8 |
G |
T |
18: 37,895,142 (GRCm39) |
A71S |
probably benign |
Het |
| Pmfbp1 |
T |
C |
8: 110,265,307 (GRCm39) |
|
probably null |
Het |
| Poc1b |
C |
T |
10: 99,028,666 (GRCm39) |
A336V |
probably benign |
Het |
| Poglut3 |
A |
G |
9: 53,303,308 (GRCm39) |
I67V |
possibly damaging |
Het |
| Prap1 |
C |
A |
7: 139,674,995 (GRCm39) |
A20E |
possibly damaging |
Het |
| Prox1 |
G |
A |
1: 189,892,975 (GRCm39) |
A490V |
probably damaging |
Het |
| Prss39 |
G |
T |
1: 34,537,697 (GRCm39) |
V54F |
possibly damaging |
Het |
| Sema3b |
T |
A |
9: 107,480,515 (GRCm39) |
E144V |
probably benign |
Het |
| Sft2d1 |
C |
T |
17: 8,537,707 (GRCm39) |
T32I |
possibly damaging |
Het |
| Smpd2 |
C |
T |
10: 41,364,442 (GRCm39) |
A160T |
probably damaging |
Het |
| Stard9 |
G |
T |
2: 120,531,740 (GRCm39) |
V2666F |
probably damaging |
Het |
| Syt7 |
T |
A |
19: 10,421,508 (GRCm39) |
M400K |
probably damaging |
Het |
| Thoc5 |
T |
C |
11: 4,869,804 (GRCm39) |
L402P |
probably damaging |
Het |
| Tinf2 |
A |
T |
14: 55,919,037 (GRCm39) |
M1K |
probably null |
Het |
| Ttc21a |
A |
G |
9: 119,771,701 (GRCm39) |
I167V |
probably benign |
Het |
| Vldlr |
T |
C |
19: 27,217,974 (GRCm39) |
L474P |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,340,294 (GRCm39) |
V845A |
probably benign |
Het |
| Zdhhc7 |
A |
T |
8: 120,811,663 (GRCm39) |
M180K |
probably damaging |
Het |
| Zfp735 |
G |
A |
11: 73,601,434 (GRCm39) |
G126D |
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 |
|
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'- TTCTGAAAGTAGAACCCTGCTTG -3'
(R):5'- AGGGACTCAAAATACACGACTTAAG -3'
Sequencing Primer
(F):5'- CAGGCTGGTCTCAAACTTAGAGGTC -3'
(R):5'- TCAAGGCCAGCATGGTTTAC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation