Incidental Mutation 'R6456:Syne3'
| ID |
520212 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6456 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
104896192-104976068 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 104906963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 775
(R775S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067005]
[ENSMUST00000095439]
[ENSMUST00000109927]
|
| AlphaFold |
Q4FZC9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067005
AA Change: R775S
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000065771
Gene: ENSMUSG00000054150
AA Change: R775S
| 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: R862S
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000093090
Gene: ENSMUSG00000054150
AA Change: R862S
| 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 |
possibly damaging
Transcript: ENSMUST00000109927
AA Change: R775S
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105553
Gene: ENSMUSG00000054150
AA Change: R775S
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,240,474 (GRCm39) |
H779L |
possibly damaging |
Het |
| Abca7 |
T |
C |
10: 79,850,984 (GRCm39) |
V2097A |
probably null |
Het |
| Adam8 |
A |
G |
7: 139,566,701 (GRCm39) |
S524P |
possibly damaging |
Het |
| Anapc2 |
T |
C |
2: 25,170,207 (GRCm39) |
M575T |
probably damaging |
Het |
| Arhgap42 |
T |
A |
9: 9,005,823 (GRCm39) |
I736L |
probably benign |
Het |
| AU040320 |
A |
G |
4: 126,736,284 (GRCm39) |
N789S |
probably benign |
Het |
| Bmi1 |
A |
G |
2: 18,687,058 (GRCm39) |
Y46C |
probably damaging |
Het |
| Brd10 |
G |
A |
19: 29,693,914 (GRCm39) |
P1860S |
possibly damaging |
Het |
| Ccdc125 |
T |
C |
13: 100,832,817 (GRCm39) |
S465P |
possibly damaging |
Het |
| Cd180 |
C |
T |
13: 102,839,344 (GRCm39) |
L76F |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,739,571 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
G |
A |
9: 105,822,676 (GRCm39) |
T227I |
unknown |
Het |
| Cyp4a29 |
G |
T |
4: 115,108,381 (GRCm39) |
M368I |
probably benign |
Het |
| Ddx28 |
T |
A |
8: 106,737,000 (GRCm39) |
I353F |
possibly damaging |
Het |
| Dhx40 |
G |
A |
11: 86,675,800 (GRCm39) |
T198M |
probably damaging |
Het |
| Dnai4 |
A |
C |
4: 102,906,746 (GRCm39) |
M689R |
probably benign |
Het |
| Dync2i2 |
T |
C |
2: 29,922,779 (GRCm39) |
S323G |
probably benign |
Het |
| Fat4 |
G |
A |
3: 39,038,128 (GRCm39) |
V3927M |
possibly damaging |
Het |
| Garin1b |
A |
G |
6: 29,334,045 (GRCm39) |
N299S |
probably benign |
Het |
| Gm10226 |
G |
T |
17: 21,910,932 (GRCm39) |
G56* |
probably null |
Het |
| H2-T15 |
A |
T |
17: 36,367,502 (GRCm39) |
Y279N |
probably damaging |
Het |
| Itsn2 |
T |
G |
12: 4,679,923 (GRCm39) |
|
probably benign |
Het |
| Lrrc8a |
A |
G |
2: 30,145,486 (GRCm39) |
D100G |
probably benign |
Het |
| Madd |
T |
C |
2: 91,008,536 (GRCm39) |
H122R |
probably benign |
Het |
| Mfsd4b3-ps |
C |
G |
10: 39,823,316 (GRCm39) |
V315L |
probably benign |
Het |
| Mki67 |
C |
G |
7: 135,301,204 (GRCm39) |
A1277P |
possibly damaging |
Het |
| Nlrp9b |
T |
A |
7: 19,782,703 (GRCm39) |
N872K |
probably damaging |
Het |
| Npas1 |
T |
C |
7: 16,195,851 (GRCm39) |
T274A |
probably benign |
Het |
| Nrm |
A |
T |
17: 36,176,292 (GRCm39) |
|
probably null |
Het |
| Or10j2 |
A |
T |
1: 173,098,105 (GRCm39) |
D121V |
probably damaging |
Het |
| Pdilt |
T |
A |
7: 119,099,706 (GRCm39) |
L187F |
probably damaging |
Het |
| Pkdcc |
T |
C |
17: 83,527,548 (GRCm39) |
I242T |
probably damaging |
Het |
| Plch2 |
C |
A |
4: 155,077,459 (GRCm39) |
D535Y |
probably damaging |
Het |
| Pmpca |
T |
A |
2: 26,285,179 (GRCm39) |
I468N |
probably damaging |
Het |
| Prpf4 |
T |
C |
4: 62,332,869 (GRCm39) |
|
probably null |
Het |
| Rcc1 |
A |
G |
4: 132,061,427 (GRCm39) |
S361P |
probably benign |
Het |
| Rigi |
T |
A |
4: 40,213,838 (GRCm39) |
N607Y |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,350,792 (GRCm39) |
I3876V |
probably benign |
Het |
| Sall2 |
T |
A |
14: 52,551,050 (GRCm39) |
Q715L |
probably damaging |
Het |
| Sall2 |
G |
A |
14: 52,551,051 (GRCm39) |
Q713* |
probably null |
Het |
| Sin3a |
A |
G |
9: 57,020,985 (GRCm39) |
S1004G |
possibly damaging |
Het |
| Sltm |
C |
T |
9: 70,450,269 (GRCm39) |
T23M |
probably damaging |
Het |
| Spata31e2 |
T |
A |
1: 26,724,250 (GRCm39) |
H310L |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,428,740 (GRCm39) |
E385G |
probably benign |
Het |
| Szt2 |
A |
T |
4: 118,233,894 (GRCm39) |
|
probably benign |
Het |
| Tlk2 |
T |
C |
11: 105,112,099 (GRCm39) |
S151P |
probably benign |
Het |
| Trabd2b |
C |
T |
4: 114,443,757 (GRCm39) |
R305C |
probably damaging |
Het |
| Ttc21b |
T |
C |
2: 66,018,675 (GRCm39) |
Q1244R |
probably damaging |
Het |
| Vmn2r125 |
A |
G |
4: 156,703,357 (GRCm39) |
N245S |
probably benign |
Het |
| Wdr64 |
G |
A |
1: 175,613,175 (GRCm39) |
|
probably null |
Het |
| Wdr70 |
G |
A |
15: 7,915,118 (GRCm39) |
T550M |
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 |
|
R6566:Syne3
|
UTSW |
12 |
104,912,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TCCTTTAAGCAGCCACCGTG -3'
(R):5'- TGAGAATCTCATATTACTGGCCC -3'
Sequencing Primer
(F):5'- CCGTGGCCTGATAATATGGACAC -3'
(R):5'- GGCCCTGCCCACATCTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation