Incidental Mutation 'R1220:Exoc3l2'
| ID |
99997 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exoc3l2
|
| Ensembl Gene |
ENSMUSG00000011263 |
| Gene Name |
exocyst complex component 3-like 2 |
| Synonyms |
Gm19857, 4933417E01Rik |
| MMRRC Submission |
039289-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.584)
|
| Stock # |
R1220 (G1)
|
| Quality Score |
141 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
19197256-19230687 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 19225709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011407]
[ENSMUST00000137613]
|
| AlphaFold |
D3YUP5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000011407
|
| SMART Domains |
Protein: ENSMUSP00000011407
Gene: ENSMUSG00000011263
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
40 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137613
|
| SMART Domains |
Protein: ENSMUSP00000123025
Gene: ENSMUSG00000011263
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec6
|
1 |
177 |
7.7e-29 |
PFAM |
|
low complexity region
|
186 |
222 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.2%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm1 |
C |
A |
7: 119,257,537 (GRCm39) |
S407R |
probably benign |
Het |
| Add2 |
A |
T |
6: 86,063,982 (GRCm39) |
M94L |
possibly damaging |
Het |
| Anks6 |
A |
T |
4: 47,025,767 (GRCm39) |
|
probably benign |
Het |
| Atxn1 |
A |
G |
13: 45,710,899 (GRCm39) |
S678P |
probably benign |
Het |
| Ccnc |
A |
G |
4: 21,732,491 (GRCm39) |
Y76C |
probably damaging |
Het |
| Col1a1 |
G |
T |
11: 94,841,957 (GRCm39) |
A1335S |
unknown |
Het |
| Col25a1 |
G |
T |
3: 130,182,574 (GRCm39) |
|
probably benign |
Het |
| Commd10 |
C |
A |
18: 47,220,107 (GRCm39) |
Q195K |
probably damaging |
Het |
| Cps1 |
G |
A |
1: 67,243,862 (GRCm39) |
|
probably null |
Het |
| Cramp1 |
A |
T |
17: 25,201,211 (GRCm39) |
V757D |
probably damaging |
Het |
| Cttn |
T |
C |
7: 144,017,699 (GRCm39) |
T13A |
probably benign |
Het |
| Eftud2 |
A |
G |
11: 102,742,573 (GRCm39) |
|
probably benign |
Het |
| Eif4enif1 |
A |
G |
11: 3,189,493 (GRCm39) |
|
probably benign |
Het |
| Fam118b |
T |
C |
9: 35,134,969 (GRCm39) |
S213G |
possibly damaging |
Het |
| Katnal1 |
G |
A |
5: 148,831,061 (GRCm39) |
A171V |
probably benign |
Het |
| Lrig3 |
A |
G |
10: 125,832,945 (GRCm39) |
N273S |
probably damaging |
Het |
| Lrriq1 |
G |
A |
10: 102,906,990 (GRCm39) |
R1577W |
probably benign |
Het |
| Or1e26 |
A |
C |
11: 73,480,203 (GRCm39) |
Y120* |
probably null |
Het |
| Or5p70 |
T |
A |
7: 107,994,539 (GRCm39) |
S71T |
probably benign |
Het |
| Pmel |
A |
G |
10: 128,549,929 (GRCm39) |
D30G |
probably benign |
Het |
| Ppp1r15a |
T |
C |
7: 45,173,293 (GRCm39) |
Y505C |
probably damaging |
Het |
| Prpf40b |
C |
T |
15: 99,214,229 (GRCm39) |
R830C |
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,566,479 (GRCm39) |
D106E |
probably damaging |
Het |
| Rad18 |
C |
A |
6: 112,626,625 (GRCm39) |
E141* |
probably null |
Het |
| Ros1 |
C |
T |
10: 51,974,966 (GRCm39) |
V1540M |
probably damaging |
Het |
| Secisbp2 |
G |
A |
13: 51,810,941 (GRCm39) |
R201H |
probably damaging |
Het |
| Shisa6 |
A |
G |
11: 66,110,836 (GRCm39) |
S302P |
probably damaging |
Het |
| Slamf9 |
C |
A |
1: 172,304,898 (GRCm39) |
Q171K |
probably benign |
Het |
| Sox6 |
T |
A |
7: 115,261,677 (GRCm39) |
T180S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,553,998 (GRCm39) |
S30902G |
possibly damaging |
Het |
| Xirp1 |
A |
G |
9: 119,846,982 (GRCm39) |
F634L |
possibly damaging |
Het |
| Yrdc |
T |
A |
4: 124,748,329 (GRCm39) |
S278T |
possibly damaging |
Het |
|
| Other mutations in Exoc3l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02858:Exoc3l2
|
APN |
7 |
19,229,109 (GRCm39) |
missense |
probably benign |
0.05 |
|
Thumbelina
|
UTSW |
7 |
19,213,957 (GRCm39) |
missense |
unknown |
|
|
R1482:Exoc3l2
|
UTSW |
7 |
19,229,284 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2109:Exoc3l2
|
UTSW |
7 |
19,223,059 (GRCm39) |
start gained |
probably benign |
|
|
R2117:Exoc3l2
|
UTSW |
7 |
19,228,907 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3963:Exoc3l2
|
UTSW |
7 |
19,229,181 (GRCm39) |
missense |
probably benign |
|
|
R4870:Exoc3l2
|
UTSW |
7 |
19,229,117 (GRCm39) |
missense |
unknown |
|
|
R5982:Exoc3l2
|
UTSW |
7 |
19,213,957 (GRCm39) |
missense |
unknown |
|
|
R6151:Exoc3l2
|
UTSW |
7 |
19,225,670 (GRCm39) |
nonsense |
probably null |
|
|
R6351:Exoc3l2
|
UTSW |
7 |
19,203,633 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6376:Exoc3l2
|
UTSW |
7 |
19,203,635 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7087:Exoc3l2
|
UTSW |
7 |
19,203,582 (GRCm39) |
missense |
|
|
|
R7256:Exoc3l2
|
UTSW |
7 |
19,218,628 (GRCm39) |
missense |
unknown |
|
|
R7493:Exoc3l2
|
UTSW |
7 |
19,203,813 (GRCm39) |
missense |
|
|
|
R8472:Exoc3l2
|
UTSW |
7 |
19,215,190 (GRCm39) |
nonsense |
probably null |
|
|
R8745:Exoc3l2
|
UTSW |
7 |
19,215,212 (GRCm39) |
missense |
unknown |
|
|
R8897:Exoc3l2
|
UTSW |
7 |
19,203,931 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9058:Exoc3l2
|
UTSW |
7 |
19,203,821 (GRCm39) |
nonsense |
probably null |
|
|
R9773:Exoc3l2
|
UTSW |
7 |
19,203,697 (GRCm39) |
missense |
|
|
|
X0064:Exoc3l2
|
UTSW |
7 |
19,228,897 (GRCm39) |
missense |
probably benign |
0.27 |
|
Z1176:Exoc3l2
|
UTSW |
7 |
19,213,986 (GRCm39) |
missense |
probably null |
|
|
Z1177:Exoc3l2
|
UTSW |
7 |
19,213,953 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTGCATTGGGTGACCCTGAAAC -3'
(R):5'- AGATTTGGACGTGCCTGCTACTG -3'
Sequencing Primer
(F):5'- GGTGACCCTGAAACCCTTG -3'
(R):5'- ACATGCCCGTGTGTGTC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation