Incidental Mutation 'R1321:Syne3'
ID |
157693 |
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 |
039387-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1321 (G1)
|
Quality Score |
172 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
104896192-104976068 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 104942055 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 29
(V29G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093090
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067005]
[ENSMUST00000095439]
[ENSMUST00000109927]
|
AlphaFold |
Q4FZC9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067005
|
SMART Domains |
Protein: ENSMUSP00000065771 Gene: ENSMUSG00000054150
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: V29G
PolyPhen 2
Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000093090 Gene: ENSMUSG00000054150 AA Change: V29G
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
|
SMART Domains |
Protein: ENSMUSP00000105553 Gene: ENSMUSG00000054150
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 |
|
Meta Mutation Damage Score |
0.1536 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.0%
- 20x: 89.1%
|
Validation Efficiency |
100% (41/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447C04Rik |
A |
G |
12: 72,945,318 (GRCm39) |
|
probably benign |
Het |
Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
C2cd2l |
A |
G |
9: 44,228,878 (GRCm39) |
|
probably null |
Het |
Cass4 |
T |
A |
2: 172,266,572 (GRCm39) |
L205Q |
probably benign |
Het |
Ccn3 |
G |
T |
15: 54,612,642 (GRCm39) |
C217F |
probably damaging |
Het |
Celsr3 |
G |
A |
9: 108,713,069 (GRCm39) |
D1834N |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,524,991 (GRCm39) |
C2723* |
probably null |
Het |
Cps1 |
A |
G |
1: 67,182,178 (GRCm39) |
|
probably benign |
Het |
Dolpp1 |
A |
G |
2: 30,285,748 (GRCm39) |
I49V |
possibly damaging |
Het |
Dppa2 |
A |
G |
16: 48,131,999 (GRCm39) |
E32G |
possibly damaging |
Het |
Eif2b5 |
C |
T |
16: 20,323,439 (GRCm39) |
R397* |
probably null |
Het |
Far2 |
G |
T |
6: 148,075,034 (GRCm39) |
|
probably benign |
Het |
Fbxo42 |
C |
T |
4: 140,895,160 (GRCm39) |
T41I |
probably benign |
Het |
Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
Galnt13 |
G |
A |
2: 54,988,606 (GRCm39) |
R476Q |
probably damaging |
Het |
Galnt18 |
A |
T |
7: 111,378,639 (GRCm39) |
V39E |
probably benign |
Het |
Gm10801 |
C |
T |
2: 98,494,252 (GRCm39) |
|
probably benign |
Het |
Gm21954 |
C |
T |
3: 55,379,627 (GRCm39) |
|
probably benign |
Het |
Lct |
A |
C |
1: 128,227,759 (GRCm39) |
L1245V |
probably benign |
Het |
Lgr5 |
T |
C |
10: 115,314,362 (GRCm39) |
T192A |
probably damaging |
Het |
Mrpl42 |
C |
T |
10: 95,329,573 (GRCm39) |
V46M |
probably damaging |
Het |
Mybpc1 |
C |
T |
10: 88,365,403 (GRCm39) |
V907M |
possibly damaging |
Het |
Mybpc1 |
T |
A |
10: 88,406,463 (GRCm39) |
Y127F |
probably damaging |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Otud4 |
T |
C |
8: 80,396,579 (GRCm39) |
S613P |
probably benign |
Het |
P2ry12 |
T |
C |
3: 59,124,646 (GRCm39) |
E343G |
possibly damaging |
Het |
Pbrm1 |
A |
C |
14: 30,789,459 (GRCm39) |
K670T |
probably damaging |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
Reg3b |
A |
G |
6: 78,349,936 (GRCm39) |
|
probably null |
Het |
Sppl3 |
TGG |
TG |
5: 115,226,352 (GRCm39) |
|
probably null |
Het |
Ssr2 |
T |
C |
3: 88,484,261 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,187,434 (GRCm39) |
V3834A |
possibly damaging |
Het |
Vmn2r112 |
C |
T |
17: 22,837,500 (GRCm39) |
Q654* |
probably null |
Het |
Vmn2r14 |
C |
T |
5: 109,364,117 (GRCm39) |
V600I |
probably benign |
Het |
Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
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 |
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 |
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'- CAGATTCCCGCCCTGAAATGGAAG -3'
(R):5'- TAAGATTGACAGCCGTGCCGAG -3'
Sequencing Primer
(F):5'- ACAGAATGCAGGCTCTGTC -3'
(R):5'- ggtggtggtggtggtgg -3'
|
Posted On |
2014-02-18 |