Incidental Mutation 'R9263:Syne3'
| ID |
702384 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9263 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
104896192-104976068 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104934415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 118
(Y118C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067005]
[ENSMUST00000095439]
[ENSMUST00000109927]
|
| AlphaFold |
Q4FZC9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067005
AA Change: Y31C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065771
Gene: ENSMUSG00000054150
AA Change: Y31C
| 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: Y118C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093090
Gene: ENSMUSG00000054150
AA Change: Y118C
| 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: Y31C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105553
Gene: ENSMUSG00000054150
AA Change: Y31C
| 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: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c14 |
T |
C |
13: 4,113,620 (GRCm39) |
S51P |
probably damaging |
Het |
| Arhgef38 |
T |
G |
3: 132,866,529 (GRCm39) |
K203Q |
|
Het |
| Cacna1d |
G |
A |
14: 29,796,925 (GRCm39) |
R1517W |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 44,915,949 (GRCm39) |
M235K |
probably damaging |
Het |
| Cdc42bpg |
T |
C |
19: 6,372,149 (GRCm39) |
S1414P |
probably damaging |
Het |
| Dab2ip |
A |
G |
2: 35,602,891 (GRCm39) |
D395G |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,358,945 (GRCm39) |
E255G |
probably benign |
Het |
| Dnaja1 |
T |
A |
4: 40,724,133 (GRCm39) |
M98K |
probably benign |
Het |
| Dnajb7 |
G |
A |
15: 81,292,266 (GRCm39) |
R24C |
probably benign |
Het |
| Dscc1 |
C |
A |
15: 54,947,505 (GRCm39) |
W225L |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,727,223 (GRCm39) |
V590D |
probably benign |
Het |
| Epcam |
A |
G |
17: 87,947,960 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,257,344 (GRCm39) |
Y341C |
probably damaging |
Het |
| Fry |
T |
G |
5: 150,322,728 (GRCm39) |
L1040R |
probably damaging |
Het |
| Gm9639 |
C |
T |
10: 77,630,828 (GRCm39) |
C28Y |
unknown |
Het |
| Hsd17b7 |
A |
G |
1: 169,794,833 (GRCm39) |
S69P |
probably damaging |
Het |
| Igsf1 |
A |
G |
X: 48,884,191 (GRCm39) |
M2T |
possibly damaging |
Het |
| Katnip |
T |
A |
7: 125,469,867 (GRCm39) |
D1445E |
probably damaging |
Het |
| Kmt2d |
TGCTGCTGCTGCTGCTGCTGG |
TG |
15: 98,747,499 (GRCm39) |
|
probably null |
Het |
| Lrp5 |
T |
C |
19: 3,654,190 (GRCm39) |
Y1079C |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,457,467 (GRCm39) |
D779G |
probably damaging |
Het |
| Nbea |
AC |
A |
3: 55,998,393 (GRCm39) |
|
probably null |
Het |
| Pacsin1 |
A |
G |
17: 27,923,924 (GRCm39) |
D106G |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,732,790 (GRCm39) |
D682E |
probably benign |
Het |
| Pex6 |
A |
G |
17: 47,023,231 (GRCm39) |
D269G |
probably benign |
Het |
| Rcor1 |
T |
A |
12: 111,078,327 (GRCm39) |
V474E |
|
Het |
| Rdh16 |
A |
G |
10: 127,649,306 (GRCm39) |
D254G |
probably benign |
Het |
| Rp1 |
A |
T |
1: 4,418,675 (GRCm39) |
D812E |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,419,160 (GRCm39) |
S651P |
probably benign |
Het |
| Sec16b |
G |
A |
1: 157,359,748 (GRCm39) |
|
probably benign |
Het |
| Sephs2 |
C |
T |
7: 126,872,122 (GRCm39) |
G324S |
probably damaging |
Het |
| Sirpb1a |
T |
C |
3: 15,481,992 (GRCm39) |
D112G |
probably damaging |
Het |
| Slc25a47 |
C |
G |
12: 108,820,215 (GRCm39) |
T73S |
probably benign |
Het |
| Slco4c1 |
A |
T |
1: 96,799,509 (GRCm39) |
L109H |
probably damaging |
Het |
| Smc2 |
A |
G |
4: 52,470,848 (GRCm39) |
E845G |
possibly damaging |
Het |
| Sstr3 |
G |
T |
15: 78,423,792 (GRCm39) |
N318K |
probably damaging |
Het |
| Suz12 |
A |
G |
11: 79,904,087 (GRCm39) |
|
probably benign |
Het |
| Sycp2 |
A |
G |
2: 178,035,931 (GRCm39) |
I252T |
probably damaging |
Het |
| Tbx18 |
C |
A |
9: 87,611,521 (GRCm39) |
A170S |
probably damaging |
Het |
| Trak2 |
T |
C |
1: 58,985,481 (GRCm39) |
N6D |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,720,868 (GRCm39) |
T6852I |
unknown |
Het |
| Tufm |
A |
G |
7: 126,088,100 (GRCm39) |
E201G |
probably damaging |
Het |
| Vwa3b |
C |
A |
1: 37,099,493 (GRCm39) |
P236Q |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,345,289 (GRCm39) |
Y2510C |
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 |
|
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 |
|
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'- TCTCCGATCCTGCTGAACAG -3'
(R):5'- ACACAAGGTCTCACAGGAAG -3'
Sequencing Primer
(F):5'- TGCTGAACAGGGAGCCC -3'
(R):5'- TCTCACAGGAAGGAAGGAAAGTCTAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation