Incidental Mutation 'R5082:Exoc3l4'
| ID |
387210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exoc3l4
|
| Ensembl Gene |
ENSMUSG00000021280 |
| Gene Name |
exocyst complex component 3-like 4 |
| Synonyms |
1600013K19Rik, 1200009I06Rik |
| MMRRC Submission |
042671-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R5082 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
111383864-111398114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111394424 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 515
(S515G)
|
| 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
AA Change: S515G
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000072438
Gene: ENSMUSG00000021280
AA Change: S515G
| 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
AA Change: S515G
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223050
AA Change: S515G
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223369
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,022,694 (GRCm39) |
M1015L |
probably benign |
Het |
| Aftph |
T |
C |
11: 20,677,100 (GRCm39) |
S170G |
probably damaging |
Het |
| Aox4 |
C |
T |
1: 58,270,642 (GRCm39) |
P274S |
possibly damaging |
Het |
| Ash1l |
G |
A |
3: 88,873,541 (GRCm39) |
R108Q |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,406,414 (GRCm39) |
L1767* |
probably null |
Het |
| Baz2b |
T |
A |
2: 59,731,835 (GRCm39) |
K2068* |
probably null |
Het |
| Bcl9 |
A |
T |
3: 97,117,218 (GRCm39) |
V492D |
probably damaging |
Het |
| Bicc1 |
G |
T |
10: 70,776,352 (GRCm39) |
H782Q |
probably benign |
Het |
| Cabin1 |
T |
A |
10: 75,574,164 (GRCm39) |
I640F |
probably damaging |
Het |
| Ccng1 |
A |
G |
11: 40,643,015 (GRCm39) |
V144A |
possibly damaging |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Ddx1 |
G |
T |
12: 13,270,436 (GRCm39) |
C668* |
probably null |
Het |
| Dhx58 |
G |
A |
11: 100,587,802 (GRCm39) |
S585L |
probably benign |
Het |
| Dnttip2 |
A |
T |
3: 122,069,590 (GRCm39) |
K268N |
probably damaging |
Het |
| Ecd |
C |
T |
14: 20,374,436 (GRCm39) |
|
probably null |
Het |
| Entpd1 |
A |
G |
19: 40,713,473 (GRCm39) |
|
probably null |
Het |
| Erlin2 |
T |
C |
8: 27,523,435 (GRCm39) |
V224A |
probably damaging |
Het |
| Fcho1 |
T |
C |
8: 72,169,829 (GRCm39) |
D98G |
possibly damaging |
Het |
| Fhod1 |
T |
A |
8: 106,057,145 (GRCm39) |
D943V |
probably damaging |
Het |
| Gm10322 |
A |
T |
10: 59,452,090 (GRCm39) |
E69V |
possibly damaging |
Het |
| Gm14295 |
T |
A |
2: 176,499,210 (GRCm39) |
L19* |
probably null |
Het |
| Gm7347 |
T |
A |
5: 26,262,372 (GRCm39) |
R50* |
probably null |
Het |
| Hesx1 |
T |
C |
14: 26,722,731 (GRCm39) |
C19R |
probably benign |
Het |
| Hgh1 |
T |
A |
15: 76,253,752 (GRCm39) |
F199L |
probably benign |
Het |
| Irak2 |
T |
C |
6: 113,649,805 (GRCm39) |
F147L |
probably damaging |
Het |
| Kif22 |
G |
A |
7: 126,632,549 (GRCm39) |
R254C |
possibly damaging |
Het |
| Klhl9 |
A |
T |
4: 88,639,622 (GRCm39) |
S206R |
probably damaging |
Het |
| Maip1 |
T |
C |
1: 57,451,010 (GRCm39) |
|
probably null |
Het |
| Mcm9 |
T |
A |
10: 53,414,156 (GRCm39) |
E308V |
possibly damaging |
Het |
| Mfsd13b |
A |
T |
7: 120,598,201 (GRCm39) |
N369I |
possibly damaging |
Het |
| Mga |
T |
A |
2: 119,733,825 (GRCm39) |
H224Q |
probably damaging |
Het |
| Mtss1 |
A |
T |
15: 58,842,868 (GRCm39) |
W115R |
probably damaging |
Het |
| Myo3b |
T |
C |
2: 70,088,374 (GRCm39) |
V851A |
probably benign |
Het |
| Nectin2 |
A |
T |
7: 19,472,049 (GRCm39) |
D113E |
probably damaging |
Het |
| Notch2 |
G |
A |
3: 98,007,690 (GRCm39) |
C480Y |
probably damaging |
Het |
| Or6b6 |
G |
A |
7: 106,570,871 (GRCm39) |
R227C |
probably benign |
Het |
| Or8b55 |
T |
C |
9: 38,727,441 (GRCm39) |
I214T |
possibly damaging |
Het |
| Pfdn1 |
G |
T |
18: 36,537,466 (GRCm39) |
N111K |
probably damaging |
Het |
| Pfkl |
A |
T |
10: 77,832,242 (GRCm39) |
V283E |
probably damaging |
Het |
| Plbd2 |
G |
T |
5: 120,629,249 (GRCm39) |
S305* |
probably null |
Het |
| Prom1 |
T |
C |
5: 44,158,174 (GRCm39) |
|
probably null |
Het |
| Ptbp2 |
T |
A |
3: 119,546,613 (GRCm39) |
M90L |
probably benign |
Het |
| Rai1 |
G |
A |
11: 60,076,745 (GRCm39) |
E270K |
possibly damaging |
Het |
| Rbbp6 |
G |
A |
7: 122,599,925 (GRCm39) |
|
probably benign |
Het |
| Reln |
T |
C |
5: 22,101,075 (GRCm39) |
M3399V |
probably benign |
Het |
| Ros1 |
T |
A |
10: 52,040,037 (GRCm39) |
Y318F |
possibly damaging |
Het |
| Sh2d2a |
A |
G |
3: 87,759,091 (GRCm39) |
D231G |
probably benign |
Het |
| Smn1 |
T |
C |
13: 100,273,890 (GRCm39) |
|
probably benign |
Het |
| Snrnp200 |
C |
T |
2: 127,068,290 (GRCm39) |
Q877* |
probably null |
Het |
| Taf2 |
G |
T |
15: 54,923,441 (GRCm39) |
H279N |
probably benign |
Het |
| Tnfaip3 |
T |
C |
10: 18,881,032 (GRCm39) |
Y345C |
probably damaging |
Het |
| Vmn2r68 |
C |
T |
7: 84,883,076 (GRCm39) |
M225I |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,722,257 (GRCm39) |
W352R |
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 |
|
|
R4843:Exoc3l4
|
UTSW |
12 |
111,394,487 (GRCm39) |
intron |
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 |
|
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'- TGCACAACTCCAGGGACATTAC -3'
(R):5'- CTTGCTCTGGGAGAACTCAC -3'
Sequencing Primer
(F):5'- AACTCAGGGATTCTCAACCTGTGG -3'
(R):5'- TGGGAGAACTCACAGAGGGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation