Incidental Mutation 'R6566:Syne3'
| ID |
522699 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syne3
|
| Ensembl Gene |
ENSMUSG00000054150 |
| Gene Name |
spectrin repeat containing, nuclear envelope family member 3 |
| Synonyms |
4831426I19Rik, nesprin-3beta, nesprin-3alpha, nesprin-3 |
| MMRRC Submission |
044690-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6566 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
104896192-104976068 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104912966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 614
(V614A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067005]
[ENSMUST00000095439]
[ENSMUST00000109927]
|
| AlphaFold |
Q4FZC9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067005
AA Change: V614A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000065771
Gene: ENSMUSG00000054150
AA Change: V614A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SPEC
|
29 |
127 |
8e-24 |
BLAST |
|
SPEC
|
136 |
237 |
1.01e-1 |
SMART |
|
Blast:SPEC
|
252 |
446 |
9e-55 |
BLAST |
|
low complexity region
|
447 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
495 |
514 |
N/A |
INTRINSIC |
|
SPEC
|
563 |
664 |
1.74e-1 |
SMART |
|
Blast:SPEC
|
722 |
818 |
1e-12 |
BLAST |
|
KASH
|
832 |
888 |
7.52e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095439
AA Change: V701A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000093090
Gene: ENSMUSG00000054150
AA Change: V701A
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
7 |
109 |
1.22e-1 |
SMART |
|
SPEC
|
223 |
324 |
1.01e-1 |
SMART |
|
Blast:SPEC
|
339 |
533 |
2e-54 |
BLAST |
|
low complexity region
|
534 |
546 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
601 |
N/A |
INTRINSIC |
|
SPEC
|
650 |
751 |
1.74e-1 |
SMART |
|
Blast:SPEC
|
809 |
905 |
1e-12 |
BLAST |
|
KASH
|
919 |
975 |
7.52e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109927
AA Change: V614A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000105553
Gene: ENSMUSG00000054150
AA Change: V614A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SPEC
|
29 |
127 |
8e-24 |
BLAST |
|
SPEC
|
136 |
237 |
1.01e-1 |
SMART |
|
Blast:SPEC
|
252 |
446 |
9e-55 |
BLAST |
|
low complexity region
|
447 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
495 |
514 |
N/A |
INTRINSIC |
|
SPEC
|
563 |
664 |
1.74e-1 |
SMART |
|
Blast:SPEC
|
722 |
818 |
1e-12 |
BLAST |
|
KASH
|
832 |
888 |
7.52e-24 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
G |
15: 91,075,321 (GRCm39) |
I164T |
probably damaging |
Het |
| Adad2 |
C |
T |
8: 120,340,971 (GRCm39) |
P164S |
probably benign |
Het |
| Adcy3 |
T |
A |
12: 4,244,324 (GRCm39) |
L278H |
probably damaging |
Het |
| Aldh16a1 |
A |
C |
7: 44,792,651 (GRCm39) |
D670E |
probably benign |
Het |
| Bcat1 |
A |
G |
6: 144,961,210 (GRCm39) |
M131T |
probably damaging |
Het |
| Dcstamp |
T |
C |
15: 39,617,732 (GRCm39) |
F47S |
possibly damaging |
Het |
| Dsg1b |
T |
C |
18: 20,530,499 (GRCm39) |
F385L |
probably damaging |
Het |
| Exoc8 |
A |
C |
8: 125,622,783 (GRCm39) |
L528R |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,011,275 (GRCm39) |
V2125A |
possibly damaging |
Het |
| Gm57859 |
C |
T |
11: 113,578,824 (GRCm39) |
P73L |
probably damaging |
Het |
| Hecw1 |
T |
C |
13: 14,471,868 (GRCm39) |
D600G |
probably damaging |
Het |
| Ice2 |
G |
A |
9: 69,323,511 (GRCm39) |
V669I |
probably benign |
Het |
| Khdc4 |
C |
T |
3: 88,618,961 (GRCm39) |
T555M |
probably damaging |
Het |
| Lsr |
T |
A |
7: 30,671,508 (GRCm39) |
Y75F |
possibly damaging |
Het |
| Mrps30 |
C |
A |
13: 118,523,662 (GRCm39) |
V37L |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Or6c217 |
T |
A |
10: 129,737,947 (GRCm39) |
I211L |
probably benign |
Het |
| Pign |
A |
G |
1: 105,565,906 (GRCm39) |
|
probably null |
Het |
| Plcd3 |
A |
G |
11: 102,964,626 (GRCm39) |
Y582H |
probably damaging |
Het |
| Rad9b |
A |
G |
5: 122,490,630 (GRCm39) |
W29R |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,319,316 (GRCm39) |
F912I |
probably benign |
Het |
| Rgs16 |
C |
T |
1: 153,619,546 (GRCm39) |
S184L |
unknown |
Het |
| Runx2 |
A |
G |
17: 45,125,375 (GRCm39) |
|
probably null |
Het |
| Serpina1f |
T |
A |
12: 103,659,794 (GRCm39) |
I163F |
probably damaging |
Het |
| Serpina9 |
T |
C |
12: 103,963,296 (GRCm39) |
E404G |
possibly damaging |
Het |
| Slc4a4 |
T |
C |
5: 89,297,192 (GRCm39) |
S511P |
possibly damaging |
Het |
| Speg |
A |
T |
1: 75,365,107 (GRCm39) |
E390V |
probably damaging |
Het |
| Tmc5 |
T |
C |
7: 118,247,067 (GRCm39) |
S524P |
probably damaging |
Het |
| Tuba4a |
G |
A |
1: 75,193,930 (GRCm39) |
T51I |
probably damaging |
Het |
| Tymp |
T |
A |
15: 89,257,803 (GRCm39) |
T421S |
probably benign |
Het |
| Uvssa |
A |
G |
5: 33,549,520 (GRCm39) |
R394G |
possibly damaging |
Het |
| Wdr7 |
T |
G |
18: 63,888,126 (GRCm39) |
I533S |
possibly damaging |
Het |
| Zbtb5 |
G |
A |
4: 44,994,508 (GRCm39) |
T292M |
probably damaging |
Het |
| Zfp944 |
T |
G |
17: 22,558,726 (GRCm39) |
K174Q |
possibly damaging |
Het |
|
| Other mutations in Syne3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01154:Syne3
|
APN |
12 |
104,924,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01986:Syne3
|
APN |
12 |
104,934,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02303:Syne3
|
APN |
12 |
104,929,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02469:Syne3
|
APN |
12 |
104,920,565 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03127:Syne3
|
APN |
12 |
104,909,687 (GRCm39) |
missense |
probably benign |
0.02 |
|
BB008:Syne3
|
UTSW |
12 |
104,929,491 (GRCm39) |
missense |
probably damaging |
0.97 |
|
BB018:Syne3
|
UTSW |
12 |
104,929,491 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4791001:Syne3
|
UTSW |
12 |
104,929,438 (GRCm39) |
missense |
probably benign |
|
|
R0436:Syne3
|
UTSW |
12 |
104,913,183 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0471:Syne3
|
UTSW |
12 |
104,909,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0613:Syne3
|
UTSW |
12 |
104,924,371 (GRCm39) |
missense |
probably benign |
|
|
R0662:Syne3
|
UTSW |
12 |
104,927,769 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0707:Syne3
|
UTSW |
12 |
104,935,619 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1321:Syne3
|
UTSW |
12 |
104,942,055 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1494:Syne3
|
UTSW |
12 |
104,921,841 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2035:Syne3
|
UTSW |
12 |
104,924,386 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2147:Syne3
|
UTSW |
12 |
104,919,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2326:Syne3
|
UTSW |
12 |
104,935,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2923:Syne3
|
UTSW |
12 |
104,934,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3710:Syne3
|
UTSW |
12 |
104,909,697 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3946:Syne3
|
UTSW |
12 |
104,924,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4542:Syne3
|
UTSW |
12 |
104,935,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4544:Syne3
|
UTSW |
12 |
104,925,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5110:Syne3
|
UTSW |
12 |
104,909,629 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5256:Syne3
|
UTSW |
12 |
104,942,139 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R5490:Syne3
|
UTSW |
12 |
104,921,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5616:Syne3
|
UTSW |
12 |
104,921,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5730:Syne3
|
UTSW |
12 |
104,927,713 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5941:Syne3
|
UTSW |
12 |
104,913,251 (GRCm39) |
missense |
probably benign |
|
|
R6208:Syne3
|
UTSW |
12 |
104,909,622 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6456:Syne3
|
UTSW |
12 |
104,906,963 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6957:Syne3
|
UTSW |
12 |
104,920,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7251:Syne3
|
UTSW |
12 |
104,927,830 (GRCm39) |
frame shift |
probably null |
|
|
R7388:Syne3
|
UTSW |
12 |
104,934,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7591:Syne3
|
UTSW |
12 |
104,906,863 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7614:Syne3
|
UTSW |
12 |
104,912,901 (GRCm39) |
missense |
not run |
|
|
R7740:Syne3
|
UTSW |
12 |
104,920,546 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7763:Syne3
|
UTSW |
12 |
104,963,754 (GRCm39) |
start gained |
probably benign |
|
|
R7931:Syne3
|
UTSW |
12 |
104,929,491 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8973:Syne3
|
UTSW |
12 |
104,925,654 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9031:Syne3
|
UTSW |
12 |
104,905,871 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9263:Syne3
|
UTSW |
12 |
104,934,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9579:Syne3
|
UTSW |
12 |
104,942,107 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9665:Syne3
|
UTSW |
12 |
104,924,247 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9668:Syne3
|
UTSW |
12 |
104,898,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAGGAAGGTCCCAGGTTCC -3'
(R):5'- AGGTGCCAATTCGTTCTTCC -3'
Sequencing Primer
(F):5'- AGCCTAGCTGCAGCCATCTG -3'
(R):5'- TCCAGCCATATTCCCATGCAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation