Incidental Mutation 'R4843:Exoc3l4'
| ID |
372012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exoc3l4
|
| Ensembl Gene |
ENSMUSG00000021280 |
| Gene Name |
exocyst complex component 3-like 4 |
| Synonyms |
1600013K19Rik, 1200009I06Rik |
| MMRRC Submission |
042456-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R4843 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
111383864-111398114 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 111394487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072646]
[ENSMUST00000220852]
[ENSMUST00000222897]
[ENSMUST00000223050]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072646
|
| SMART Domains |
Protein: ENSMUSP00000072438
Gene: ENSMUSG00000021280
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
75 |
89 |
N/A |
INTRINSIC |
|
Pfam:Sec6
|
181 |
708 |
7.1e-111 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181085
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220852
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222126
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222262
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222897
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223369
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
95% (58/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp1 |
T |
A |
12: 30,946,144 (GRCm39) |
K124* |
probably null |
Het |
| Actl11 |
G |
T |
9: 107,806,691 (GRCm39) |
C338F |
possibly damaging |
Het |
| Adam5 |
G |
A |
8: 25,303,552 (GRCm39) |
S125F |
probably damaging |
Het |
| Ap2s1 |
C |
A |
7: 16,477,271 (GRCm39) |
A44D |
possibly damaging |
Het |
| AW554918 |
T |
C |
18: 25,473,057 (GRCm39) |
V84A |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,984,388 (GRCm39) |
T3222M |
unknown |
Het |
| Car15 |
A |
G |
16: 17,654,472 (GRCm39) |
Y155H |
possibly damaging |
Het |
| Cdca2 |
G |
T |
14: 67,914,425 (GRCm39) |
P945T |
probably damaging |
Het |
| Cdh16 |
A |
G |
8: 105,348,172 (GRCm39) |
F182L |
probably damaging |
Het |
| Cers6 |
G |
A |
2: 68,899,003 (GRCm39) |
A214T |
probably benign |
Het |
| Ces1g |
A |
T |
8: 94,057,893 (GRCm39) |
M136K |
probably damaging |
Het |
| Cnppd1 |
A |
G |
1: 75,113,086 (GRCm39) |
V394A |
probably benign |
Het |
| Cyp3a59 |
A |
T |
5: 146,033,071 (GRCm39) |
I148F |
possibly damaging |
Het |
| Dnah1 |
G |
A |
14: 30,986,920 (GRCm39) |
A3624V |
probably damaging |
Het |
| Fap |
G |
T |
2: 62,374,718 (GRCm39) |
P227Q |
probably damaging |
Het |
| Fbxw10 |
G |
A |
11: 62,738,151 (GRCm39) |
R15H |
possibly damaging |
Het |
| Gm11011 |
T |
C |
2: 169,429,240 (GRCm39) |
|
probably benign |
Het |
| Gm11146 |
A |
C |
16: 77,392,144 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
G |
A |
10: 119,765,920 (GRCm39) |
R84Q |
probably damaging |
Het |
| Hipk2 |
A |
G |
6: 38,796,192 (GRCm39) |
C19R |
possibly damaging |
Het |
| Hmgcll1 |
A |
G |
9: 75,979,916 (GRCm39) |
D102G |
possibly damaging |
Het |
| Ighv16-1 |
A |
T |
12: 114,032,504 (GRCm39) |
Y99* |
probably null |
Het |
| Kank1 |
T |
G |
19: 25,408,371 (GRCm39) |
S1283R |
probably damaging |
Het |
| Kcnip1 |
T |
A |
11: 33,594,504 (GRCm39) |
H95L |
probably benign |
Het |
| L3mbtl3 |
A |
T |
10: 26,207,777 (GRCm39) |
L314Q |
unknown |
Het |
| Marveld3 |
C |
A |
8: 110,688,702 (GRCm39) |
R13L |
possibly damaging |
Het |
| Mtrf1l |
G |
T |
10: 5,773,696 (GRCm39) |
P23Q |
possibly damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Or5p69 |
G |
A |
7: 107,967,350 (GRCm39) |
A218T |
probably benign |
Het |
| Or6c1b |
G |
T |
10: 129,273,316 (GRCm39) |
V212L |
probably benign |
Het |
| Paqr7 |
A |
G |
4: 134,234,278 (GRCm39) |
Y45C |
probably damaging |
Het |
| Plod3 |
G |
A |
5: 137,019,854 (GRCm39) |
W428* |
probably null |
Het |
| Pnisr |
T |
A |
4: 21,857,400 (GRCm39) |
|
probably benign |
Het |
| Ppip5k1 |
C |
A |
2: 121,157,368 (GRCm39) |
R1046L |
probably damaging |
Het |
| Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
| Prmt5 |
A |
T |
14: 54,753,582 (GRCm39) |
I99N |
probably benign |
Het |
| Ripk2 |
T |
C |
4: 16,155,073 (GRCm39) |
T149A |
probably damaging |
Het |
| Rpf2 |
C |
A |
10: 40,122,998 (GRCm39) |
|
probably benign |
Het |
| Rtf1 |
T |
A |
2: 119,536,017 (GRCm39) |
D190E |
possibly damaging |
Het |
| Shank2 |
T |
A |
7: 143,585,146 (GRCm39) |
M49K |
probably benign |
Het |
| Snd1 |
T |
G |
6: 28,668,642 (GRCm39) |
V443G |
probably damaging |
Het |
| Spag9 |
T |
C |
11: 93,988,644 (GRCm39) |
F555L |
probably damaging |
Het |
| Srfbp1 |
A |
G |
18: 52,621,749 (GRCm39) |
K270R |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 35,914,847 (GRCm39) |
N2230I |
probably damaging |
Het |
| Tmem106a |
T |
C |
11: 101,477,021 (GRCm39) |
|
probably benign |
Het |
| Tpsg1 |
A |
T |
17: 25,589,591 (GRCm39) |
|
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,195,146 (GRCm39) |
S1057G |
probably benign |
Het |
| Unc13d |
G |
A |
11: 115,965,085 (GRCm39) |
T220M |
probably damaging |
Het |
| Vmn1r68 |
T |
C |
7: 10,261,904 (GRCm39) |
T65A |
probably benign |
Het |
| Vps50 |
T |
C |
6: 3,536,974 (GRCm39) |
|
probably null |
Het |
| Washc5 |
A |
G |
15: 59,222,220 (GRCm39) |
I85T |
possibly damaging |
Het |
| Zfp677 |
C |
T |
17: 21,612,788 (GRCm39) |
T2I |
probably benign |
Het |
| Zxdc |
A |
G |
6: 90,359,254 (GRCm39) |
T629A |
probably damaging |
Het |
|
| Other mutations in Exoc3l4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01663:Exoc3l4
|
APN |
12 |
111,395,845 (GRCm39) |
splice site |
probably benign |
|
|
IGL02048:Exoc3l4
|
APN |
12 |
111,394,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03049:Exoc3l4
|
APN |
12 |
111,389,835 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03069:Exoc3l4
|
APN |
12 |
111,390,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03123:Exoc3l4
|
APN |
12 |
111,388,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0631:Exoc3l4
|
UTSW |
12 |
111,394,400 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1377:Exoc3l4
|
UTSW |
12 |
111,395,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2223:Exoc3l4
|
UTSW |
12 |
111,392,586 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2402:Exoc3l4
|
UTSW |
12 |
111,388,690 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2884:Exoc3l4
|
UTSW |
12 |
111,394,956 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3770:Exoc3l4
|
UTSW |
12 |
111,391,989 (GRCm39) |
missense |
probably benign |
|
|
R4903:Exoc3l4
|
UTSW |
12 |
111,395,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4964:Exoc3l4
|
UTSW |
12 |
111,395,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4966:Exoc3l4
|
UTSW |
12 |
111,395,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5082:Exoc3l4
|
UTSW |
12 |
111,394,424 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5152:Exoc3l4
|
UTSW |
12 |
111,397,327 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5210:Exoc3l4
|
UTSW |
12 |
111,395,275 (GRCm39) |
intron |
probably benign |
|
|
R5667:Exoc3l4
|
UTSW |
12 |
111,389,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5671:Exoc3l4
|
UTSW |
12 |
111,389,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5712:Exoc3l4
|
UTSW |
12 |
111,390,476 (GRCm39) |
nonsense |
probably null |
|
|
R5873:Exoc3l4
|
UTSW |
12 |
111,389,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5947:Exoc3l4
|
UTSW |
12 |
111,388,835 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6299:Exoc3l4
|
UTSW |
12 |
111,388,513 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
|
R6332:Exoc3l4
|
UTSW |
12 |
111,394,402 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6489:Exoc3l4
|
UTSW |
12 |
111,395,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7225:Exoc3l4
|
UTSW |
12 |
111,390,058 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7643:Exoc3l4
|
UTSW |
12 |
111,388,369 (GRCm39) |
intron |
probably benign |
|
|
R7731:Exoc3l4
|
UTSW |
12 |
111,397,182 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7791:Exoc3l4
|
UTSW |
12 |
111,389,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8723:Exoc3l4
|
UTSW |
12 |
111,397,092 (GRCm39) |
splice site |
probably benign |
|
|
R8942:Exoc3l4
|
UTSW |
12 |
111,392,003 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8942:Exoc3l4
|
UTSW |
12 |
111,392,002 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9145:Exoc3l4
|
UTSW |
12 |
111,388,586 (GRCm39) |
missense |
probably benign |
|
|
R9334:Exoc3l4
|
UTSW |
12 |
111,397,117 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Exoc3l4
|
UTSW |
12 |
111,395,921 (GRCm39) |
missense |
probably benign |
0.29 |
|
Z1176:Exoc3l4
|
UTSW |
12 |
111,390,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACCAGTGCCTTGCCCA -3'
(R):5'- AAGGCCTTATTTCTTGGCCCA -3'
Sequencing Primer
(F):5'- GGGGTCTTGCTCCTCTGC -3'
(R):5'- ACCACCCCACTGAACAGAAGG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation