Incidental Mutation 'R5616:Syne3'
| ID |
439544 |
| 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 |
043159-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5616 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
104896192-104976068 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104921937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 406
(E406G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067005]
[ENSMUST00000095439]
[ENSMUST00000109927]
|
| AlphaFold |
Q4FZC9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067005
AA Change: E406G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065771
Gene: ENSMUSG00000054150
AA Change: E406G
| 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 damaging
Transcript: ENSMUST00000095439
AA Change: E493G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000093090
Gene: ENSMUSG00000054150
AA Change: E493G
| 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 damaging
Transcript: ENSMUST00000109927
AA Change: E406G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105553
Gene: ENSMUSG00000054150
AA Change: E406G
| 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: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd3 |
A |
T |
3: 121,566,009 (GRCm39) |
D443E |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,252,874 (GRCm39) |
D1037G |
probably benign |
Het |
| B3glct |
T |
A |
5: 149,653,399 (GRCm39) |
L148* |
probably null |
Het |
| Cacna1e |
G |
A |
1: 154,317,940 (GRCm39) |
P1481S |
probably damaging |
Het |
| Cacna1h |
C |
A |
17: 25,596,641 (GRCm39) |
R117L |
probably damaging |
Het |
| Cct6b |
A |
T |
11: 82,632,175 (GRCm39) |
V271E |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,389,483 (GRCm39) |
S1450P |
probably damaging |
Het |
| Cul1 |
G |
A |
6: 47,500,722 (GRCm39) |
R707H |
probably damaging |
Het |
| Dcakd |
A |
G |
11: 102,885,831 (GRCm39) |
L191P |
possibly damaging |
Het |
| Dhx32 |
T |
C |
7: 133,322,957 (GRCm39) |
*612W |
probably null |
Het |
| Disp1 |
T |
A |
1: 182,869,913 (GRCm39) |
T836S |
probably benign |
Het |
| Dppa4 |
T |
A |
16: 48,111,393 (GRCm39) |
V126D |
probably damaging |
Het |
| Fam98b |
A |
G |
2: 117,098,267 (GRCm39) |
T246A |
possibly damaging |
Het |
| Fkbp4 |
A |
T |
6: 128,410,517 (GRCm39) |
V273E |
probably damaging |
Het |
| Gpr31b |
A |
G |
17: 13,270,831 (GRCm39) |
Y113H |
probably damaging |
Het |
| Gpr33 |
T |
C |
12: 52,070,377 (GRCm39) |
I221V |
probably damaging |
Het |
| Klhl1 |
A |
G |
14: 96,755,729 (GRCm39) |
F9L |
probably benign |
Het |
| Larp4b |
T |
A |
13: 9,208,695 (GRCm39) |
N449K |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,492,647 (GRCm39) |
S1363P |
probably damaging |
Het |
| Lrrc8a |
T |
C |
2: 30,145,366 (GRCm39) |
V60A |
probably benign |
Het |
| Matn3 |
A |
G |
12: 8,998,195 (GRCm39) |
H51R |
probably benign |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mtrf1 |
T |
C |
14: 79,638,885 (GRCm39) |
C6R |
possibly damaging |
Het |
| Myh6 |
T |
C |
14: 55,194,038 (GRCm39) |
S784G |
probably benign |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Nipal3 |
T |
C |
4: 135,179,715 (GRCm39) |
Y401C |
probably benign |
Het |
| Pcdhb20 |
A |
G |
18: 37,637,585 (GRCm39) |
E37G |
probably damaging |
Het |
| Pelp1 |
G |
A |
11: 70,285,688 (GRCm39) |
P727S |
possibly damaging |
Het |
| Prkca |
T |
C |
11: 107,869,169 (GRCm39) |
D472G |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,122,120 (GRCm38) |
H328R |
probably benign |
Het |
| Rtl1 |
C |
T |
12: 109,559,173 (GRCm39) |
E889K |
unknown |
Het |
| Rubcn |
T |
C |
16: 32,647,293 (GRCm39) |
D715G |
possibly damaging |
Het |
| Snurf |
C |
T |
7: 59,649,133 (GRCm39) |
E15K |
possibly damaging |
Het |
| Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
| Srp72 |
T |
G |
5: 77,135,781 (GRCm39) |
L237R |
probably damaging |
Het |
| Tgm2 |
A |
G |
2: 157,970,640 (GRCm39) |
S340P |
probably damaging |
Het |
| Trim41 |
GCCTAGGCGCCCA |
G |
11: 48,698,192 (GRCm39) |
|
probably benign |
Het |
| Tsc22d1 |
T |
C |
14: 76,653,657 (GRCm39) |
|
probably benign |
Het |
| Tsc22d2 |
G |
T |
3: 58,324,583 (GRCm39) |
|
probably benign |
Het |
| Vmn1r42 |
T |
C |
6: 89,822,084 (GRCm39) |
I162V |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,708,191 (GRCm39) |
|
probably null |
Het |
| Wnt3 |
T |
C |
11: 103,703,596 (GRCm39) |
|
probably null |
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 |
|
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'- ACATAGGCGCACATCCAGAG -3'
(R):5'- GGGATTGTAAAATTCAGGGCC -3'
Sequencing Primer
(F):5'- ACATCCAGAGCCATGGGG -3'
(R):5'- GGGCCTCCCAACCCACTTC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation