Incidental Mutation 'R6438:Synpo2l'
| ID |
518869 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synpo2l
|
| Ensembl Gene |
ENSMUSG00000039376 |
| Gene Name |
synaptopodin 2-like |
| Synonyms |
1110054M18Rik, Chap |
| MMRRC Submission |
044576-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.814)
|
| Stock # |
R6438 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
20709014-20718422 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20711204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 472
(V472A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057090]
[ENSMUST00000090469]
[ENSMUST00000117386]
[ENSMUST00000119483]
|
| AlphaFold |
Q8BWB1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057090
AA Change: V698A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000053176
Gene: ENSMUSG00000039376
AA Change: V698A
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
15 |
85 |
3.52e-10 |
SMART |
|
low complexity region
|
101 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
243 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
518 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
540 |
N/A |
INTRINSIC |
|
low complexity region
|
563 |
580 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
604 |
N/A |
INTRINSIC |
|
low complexity region
|
700 |
726 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
797 |
N/A |
INTRINSIC |
|
low complexity region
|
867 |
880 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090469
|
| SMART Domains |
Protein: ENSMUSP00000087955
Gene: ENSMUSG00000068697
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calsarcin
|
1 |
296 |
1.9e-105 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117386
AA Change: V701A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112792
Gene: ENSMUSG00000039376
AA Change: V701A
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
15 |
88 |
1.34e-15 |
SMART |
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
503 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
594 |
607 |
N/A |
INTRINSIC |
|
low complexity region
|
703 |
729 |
N/A |
INTRINSIC |
|
low complexity region
|
784 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
870 |
883 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119483
AA Change: V472A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000112760
Gene: ENSMUSG00000039376
AA Change: V472A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
203 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
274 |
292 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
555 |
571 |
N/A |
INTRINSIC |
|
low complexity region
|
641 |
654 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224436
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.0%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ado |
A |
T |
10: 67,384,371 (GRCm39) |
I78N |
probably damaging |
Het |
| Arhgap18 |
T |
C |
10: 26,648,694 (GRCm39) |
|
probably null |
Het |
| Arl11 |
A |
G |
14: 61,548,393 (GRCm39) |
T68A |
probably benign |
Het |
| Atxn2 |
T |
A |
5: 121,917,495 (GRCm39) |
I463N |
probably damaging |
Het |
| B3gnt4 |
G |
A |
5: 123,649,654 (GRCm39) |
E340K |
probably benign |
Het |
| C1ra |
C |
T |
6: 124,490,736 (GRCm39) |
T43I |
possibly damaging |
Het |
| C6 |
T |
A |
15: 4,826,465 (GRCm39) |
Y683N |
possibly damaging |
Het |
| Catspere2 |
T |
C |
1: 177,938,869 (GRCm39) |
Y581H |
possibly damaging |
Het |
| Cdk12 |
T |
A |
11: 98,115,293 (GRCm39) |
Y811* |
probably null |
Het |
| Cfap20dc |
C |
T |
14: 8,431,701 (GRCm38) |
V644M |
probably damaging |
Het |
| Chd9 |
A |
T |
8: 91,725,149 (GRCm39) |
E1159D |
probably benign |
Het |
| Efcab7 |
T |
A |
4: 99,766,969 (GRCm39) |
S505T |
probably benign |
Het |
| Erich3 |
A |
T |
3: 154,401,390 (GRCm39) |
Y13F |
probably damaging |
Het |
| Esco1 |
A |
T |
18: 10,572,031 (GRCm39) |
C770S |
probably damaging |
Het |
| Evpl |
C |
A |
11: 116,120,927 (GRCm39) |
R436L |
probably benign |
Het |
| Fam185a |
T |
A |
5: 21,663,970 (GRCm39) |
|
probably null |
Het |
| Gm17078 |
A |
G |
14: 51,848,695 (GRCm39) |
V14A |
probably benign |
Het |
| Hectd2 |
T |
C |
19: 36,596,242 (GRCm39) |
*776Q |
probably null |
Het |
| Ldb2 |
T |
C |
5: 44,637,652 (GRCm39) |
R219G |
probably damaging |
Het |
| Lrrn4 |
T |
C |
2: 132,712,062 (GRCm39) |
E587G |
probably damaging |
Het |
| Malrd1 |
T |
C |
2: 15,619,017 (GRCm39) |
S294P |
|
Het |
| Map7 |
A |
G |
10: 20,143,003 (GRCm39) |
E384G |
unknown |
Het |
| Miga1 |
T |
C |
3: 152,028,040 (GRCm39) |
D163G |
probably damaging |
Het |
| Myo7b |
G |
A |
18: 32,099,382 (GRCm39) |
S1680F |
probably damaging |
Het |
| Nell2 |
C |
T |
15: 95,130,379 (GRCm39) |
V665M |
probably damaging |
Het |
| Npas3 |
T |
C |
12: 54,115,481 (GRCm39) |
V770A |
probably damaging |
Het |
| Pcm1 |
C |
T |
8: 41,778,418 (GRCm39) |
R1818W |
possibly damaging |
Het |
| Slc4a9 |
T |
A |
18: 36,668,740 (GRCm39) |
N701K |
probably benign |
Het |
| Slc5a9 |
A |
G |
4: 111,749,022 (GRCm39) |
V187A |
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,214,725 (GRCm39) |
C654S |
probably damaging |
Het |
| Srek1ip1 |
A |
G |
13: 104,973,878 (GRCm39) |
Y95C |
probably benign |
Het |
| Tmem168 |
A |
T |
6: 13,602,673 (GRCm39) |
I231N |
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,314,266 (GRCm39) |
M717T |
probably benign |
Het |
| Zfp672 |
T |
C |
11: 58,207,563 (GRCm39) |
T253A |
probably benign |
Het |
|
| Other mutations in Synpo2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0048:Synpo2l
|
UTSW |
14 |
20,716,340 (GRCm39) |
unclassified |
probably benign |
|
|
R0277:Synpo2l
|
UTSW |
14 |
20,711,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0440:Synpo2l
|
UTSW |
14 |
20,711,466 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0540:Synpo2l
|
UTSW |
14 |
20,710,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Synpo2l
|
UTSW |
14 |
20,710,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0712:Synpo2l
|
UTSW |
14 |
20,711,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1175:Synpo2l
|
UTSW |
14 |
20,718,235 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1563:Synpo2l
|
UTSW |
14 |
20,711,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1729:Synpo2l
|
UTSW |
14 |
20,715,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1730:Synpo2l
|
UTSW |
14 |
20,715,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1739:Synpo2l
|
UTSW |
14 |
20,715,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2199:Synpo2l
|
UTSW |
14 |
20,711,987 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2213:Synpo2l
|
UTSW |
14 |
20,710,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3085:Synpo2l
|
UTSW |
14 |
20,712,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4787:Synpo2l
|
UTSW |
14 |
20,711,765 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5256:Synpo2l
|
UTSW |
14 |
20,711,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5454:Synpo2l
|
UTSW |
14 |
20,712,360 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5455:Synpo2l
|
UTSW |
14 |
20,712,360 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5765:Synpo2l
|
UTSW |
14 |
20,716,198 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5950:Synpo2l
|
UTSW |
14 |
20,716,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6376:Synpo2l
|
UTSW |
14 |
20,710,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6440:Synpo2l
|
UTSW |
14 |
20,718,244 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6511:Synpo2l
|
UTSW |
14 |
20,712,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6834:Synpo2l
|
UTSW |
14 |
20,710,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7735:Synpo2l
|
UTSW |
14 |
20,711,243 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7968:Synpo2l
|
UTSW |
14 |
20,716,870 (GRCm39) |
splice site |
probably null |
|
|
R8250:Synpo2l
|
UTSW |
14 |
20,712,344 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8282:Synpo2l
|
UTSW |
14 |
20,711,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8359:Synpo2l
|
UTSW |
14 |
20,716,208 (GRCm39) |
missense |
probably benign |
|
|
R8771:Synpo2l
|
UTSW |
14 |
20,710,491 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8853:Synpo2l
|
UTSW |
14 |
20,711,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9136:Synpo2l
|
UTSW |
14 |
20,715,857 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9253:Synpo2l
|
UTSW |
14 |
20,716,738 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9705:Synpo2l
|
UTSW |
14 |
20,710,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Synpo2l
|
UTSW |
14 |
20,716,035 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Synpo2l
|
UTSW |
14 |
20,710,572 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTGGCAAATAGCTCCCCG -3'
(R):5'- ACTAAGAAACTCTGCGCGC -3'
Sequencing Primer
(F):5'- AATAGCTCCCCGCCCCTC -3'
(R):5'- AAGCAGATGTTCCGGCCTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation