Incidental Mutation 'R6011:Cplx3'
ID |
479755 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cplx3
|
Ensembl Gene |
ENSMUSG00000039714 |
Gene Name |
complexin 3 |
Synonyms |
CpxIII, Lman1l |
MMRRC Submission |
043253-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6011 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
57507275-57513564 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 57523038 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 140
(D140E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091352
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044937]
[ENSMUST00000093832]
|
AlphaFold |
Q8R1B5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044937
AA Change: D140E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000041631 Gene: ENSMUSG00000056271 AA Change: D140E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:Lectin_leg-like
|
32 |
256 |
1.2e-53 |
PFAM |
low complexity region
|
272 |
287 |
N/A |
INTRINSIC |
coiled coil region
|
316 |
337 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093832
AA Change: D140E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000091352 Gene: ENSMUSG00000056271 AA Change: D140E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:Lectin_leg-like
|
32 |
256 |
2.7e-53 |
PFAM |
low complexity region
|
272 |
287 |
N/A |
INTRINSIC |
coiled coil region
|
316 |
337 |
N/A |
INTRINSIC |
transmembrane domain
|
439 |
461 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele are fertile, viable and exhibit normal synaptic transmission. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
A |
11: 84,136,570 (GRCm39) |
N533K |
probably benign |
Het |
Adamts15 |
G |
T |
9: 30,814,082 (GRCm39) |
H694Q |
probably damaging |
Het |
Adcy5 |
T |
C |
16: 34,977,598 (GRCm39) |
L377P |
probably benign |
Het |
Add2 |
T |
C |
6: 86,075,607 (GRCm39) |
L252P |
probably damaging |
Het |
Amer1 |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
X: 94,470,889 (GRCm39) |
|
probably benign |
Het |
Ankrd13d |
A |
G |
19: 4,331,962 (GRCm39) |
L39P |
probably damaging |
Het |
Asic1 |
G |
T |
15: 99,596,960 (GRCm39) |
A541S |
probably benign |
Het |
Bhmt1b |
A |
G |
18: 87,774,663 (GRCm39) |
E62G |
probably damaging |
Het |
Bpifb2 |
A |
G |
2: 153,731,496 (GRCm39) |
|
probably null |
Het |
Catsper3 |
A |
G |
13: 55,934,305 (GRCm39) |
I75M |
probably damaging |
Het |
Ccser2 |
T |
C |
14: 36,601,532 (GRCm39) |
E837G |
probably benign |
Het |
Clasp2 |
C |
T |
9: 113,705,315 (GRCm39) |
P557L |
probably benign |
Het |
Clstn2 |
C |
T |
9: 97,338,579 (GRCm39) |
R860Q |
probably benign |
Het |
Cyp2c66 |
A |
G |
19: 39,130,380 (GRCm39) |
K72E |
probably benign |
Het |
Cyp3a44 |
A |
G |
5: 145,738,084 (GRCm39) |
|
probably null |
Het |
Disp2 |
G |
A |
2: 118,621,301 (GRCm39) |
V678I |
possibly damaging |
Het |
Dock4 |
T |
C |
12: 40,867,756 (GRCm39) |
|
probably null |
Het |
Eml3 |
T |
C |
19: 8,916,471 (GRCm39) |
Y688H |
probably damaging |
Het |
Fam187a |
A |
G |
11: 102,776,267 (GRCm39) |
K24E |
probably damaging |
Het |
Fhit |
T |
C |
14: 9,870,068 (GRCm38) |
K134E |
probably benign |
Het |
Foxl3 |
A |
G |
5: 138,807,374 (GRCm39) |
*217W |
probably null |
Het |
Gm16485 |
A |
T |
9: 8,972,454 (GRCm39) |
|
probably benign |
Het |
Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
Hmgxb3 |
G |
A |
18: 61,296,096 (GRCm39) |
T304I |
probably damaging |
Het |
Lgsn |
A |
G |
1: 31,242,847 (GRCm39) |
S310G |
probably damaging |
Het |
Muc21 |
T |
A |
17: 35,933,074 (GRCm39) |
|
probably benign |
Het |
Niban2 |
T |
C |
2: 32,812,877 (GRCm39) |
Y482H |
probably damaging |
Het |
Or12e13 |
A |
G |
2: 87,664,259 (GRCm39) |
N292S |
probably damaging |
Het |
Or4k42 |
C |
A |
2: 111,320,192 (GRCm39) |
A104S |
probably benign |
Het |
Or6c8b |
A |
T |
10: 128,882,508 (GRCm39) |
H141Q |
probably benign |
Het |
Or7g25 |
T |
A |
9: 19,159,807 (GRCm39) |
E296V |
probably damaging |
Het |
Or9i1b |
G |
A |
19: 13,896,521 (GRCm39) |
V46I |
probably benign |
Het |
Pelo |
A |
G |
13: 115,226,302 (GRCm39) |
S52P |
probably benign |
Het |
Prune2 |
A |
G |
19: 17,096,080 (GRCm39) |
N528S |
probably benign |
Het |
Rfc3 |
T |
A |
5: 151,567,184 (GRCm39) |
I291L |
probably damaging |
Het |
Rpl35 |
A |
T |
2: 38,894,813 (GRCm39) |
|
probably null |
Het |
Sectm1b |
C |
T |
11: 120,946,704 (GRCm39) |
V64I |
possibly damaging |
Het |
Serpina12 |
A |
G |
12: 104,001,993 (GRCm39) |
M241T |
probably damaging |
Het |
Serpina1a |
T |
A |
12: 103,823,728 (GRCm39) |
D195V |
probably damaging |
Het |
Sesn2 |
C |
T |
4: 132,226,708 (GRCm39) |
V129M |
probably damaging |
Het |
Slc4a1 |
A |
C |
11: 102,243,357 (GRCm39) |
V758G |
probably damaging |
Het |
Tmx4 |
A |
T |
2: 134,481,756 (GRCm39) |
Y56N |
probably damaging |
Het |
Traj50 |
T |
C |
14: 54,405,091 (GRCm39) |
|
probably benign |
Het |
Trio |
T |
G |
15: 27,735,631 (GRCm39) |
K2820Q |
probably damaging |
Het |
Ttc28 |
G |
A |
5: 111,434,309 (GRCm39) |
G2417S |
probably benign |
Het |
Usp32 |
T |
C |
11: 84,922,923 (GRCm39) |
D665G |
possibly damaging |
Het |
|
Other mutations in Cplx3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01784:Cplx3
|
APN |
9 |
57,527,847 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02268:Cplx3
|
APN |
9 |
57,509,741 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL03164:Cplx3
|
APN |
9 |
57,517,278 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03226:Cplx3
|
APN |
9 |
57,517,290 (GRCm39) |
missense |
probably benign |
0.43 |
PIT4283001:Cplx3
|
UTSW |
9 |
57,523,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R0555:Cplx3
|
UTSW |
9 |
57,521,384 (GRCm39) |
missense |
probably benign |
0.15 |
R0601:Cplx3
|
UTSW |
9 |
57,513,357 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1168:Cplx3
|
UTSW |
9 |
57,515,595 (GRCm39) |
missense |
probably benign |
0.00 |
R1169:Cplx3
|
UTSW |
9 |
57,517,278 (GRCm39) |
missense |
probably damaging |
0.99 |
R1591:Cplx3
|
UTSW |
9 |
57,523,085 (GRCm39) |
missense |
probably benign |
0.30 |
R2289:Cplx3
|
UTSW |
9 |
57,520,941 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3848:Cplx3
|
UTSW |
9 |
57,515,600 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4685:Cplx3
|
UTSW |
9 |
57,516,483 (GRCm39) |
missense |
probably damaging |
0.98 |
R5170:Cplx3
|
UTSW |
9 |
57,522,902 (GRCm39) |
nonsense |
probably null |
|
R5309:Cplx3
|
UTSW |
9 |
57,518,360 (GRCm39) |
missense |
probably damaging |
0.98 |
R5312:Cplx3
|
UTSW |
9 |
57,518,360 (GRCm39) |
missense |
probably damaging |
0.98 |
R5639:Cplx3
|
UTSW |
9 |
57,519,149 (GRCm39) |
missense |
probably benign |
0.24 |
R5655:Cplx3
|
UTSW |
9 |
57,523,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R5905:Cplx3
|
UTSW |
9 |
57,515,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R6028:Cplx3
|
UTSW |
9 |
57,515,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R6035:Cplx3
|
UTSW |
9 |
57,519,030 (GRCm39) |
critical splice donor site |
probably null |
|
R6035:Cplx3
|
UTSW |
9 |
57,519,030 (GRCm39) |
critical splice donor site |
probably null |
|
R6113:Cplx3
|
UTSW |
9 |
57,509,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R6250:Cplx3
|
UTSW |
9 |
57,522,907 (GRCm39) |
missense |
probably benign |
0.00 |
R6488:Cplx3
|
UTSW |
9 |
57,527,926 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6489:Cplx3
|
UTSW |
9 |
57,521,009 (GRCm39) |
splice site |
probably null |
|
R6720:Cplx3
|
UTSW |
9 |
57,521,355 (GRCm39) |
splice site |
probably null |
|
R7000:Cplx3
|
UTSW |
9 |
57,523,231 (GRCm39) |
missense |
probably benign |
0.27 |
R7139:Cplx3
|
UTSW |
9 |
57,522,879 (GRCm39) |
missense |
probably benign |
0.37 |
R8822:Cplx3
|
UTSW |
9 |
57,514,471 (GRCm39) |
missense |
probably benign |
0.00 |
R9794:Cplx3
|
UTSW |
9 |
57,509,522 (GRCm39) |
makesense |
probably null |
|
R9800:Cplx3
|
UTSW |
9 |
57,523,060 (GRCm39) |
missense |
probably damaging |
0.99 |
X0057:Cplx3
|
UTSW |
9 |
57,523,240 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAGTGGTTGATAAGCCCAAG -3'
(R):5'- TCATATCTGTTGGGGAAGCAGG -3'
Sequencing Primer
(F):5'- GGGGTGCTCAGTTCTCTCAC -3'
(R):5'- CAGGTGATAGGACACAGGTACC -3'
|
Posted On |
2017-06-26 |