Incidental Mutation 'R3946:Syne3'
| ID |
307724 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syne3
|
| Ensembl Gene |
ENSMUSG00000054150 |
| Gene Name |
spectrin repeat containing, nuclear envelope family member 3 |
| Synonyms |
4831426I19Rik, nesprin-3, nesprin-3alpha, nesprin-3beta |
| MMRRC Submission |
040827-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3946 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
104929933-105009809 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 104958066 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 358
(Q358L)
|
| 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: Q358L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065771
Gene: ENSMUSG00000054150
AA Change: Q358L
| 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: Q445L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000093090
Gene: ENSMUSG00000054150
AA Change: Q445L
| 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: Q358L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105553
Gene: ENSMUSG00000054150
AA Change: Q358L
| 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 |
0.3746 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaed1 |
T |
C |
13: 64,309,098 |
I104V |
probably damaging |
Het |
| Abi2 |
A |
G |
1: 60,453,754 |
Q328R |
probably damaging |
Het |
| Agr3 |
C |
A |
12: 35,947,513 |
|
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,536,704 |
S481R |
probably damaging |
Het |
| Cabin1 |
T |
G |
10: 75,745,259 |
Q411P |
probably damaging |
Het |
| Calr3 |
A |
G |
8: 72,443,620 |
Y22H |
probably damaging |
Het |
| Caprin1 |
T |
A |
2: 103,796,766 |
I59F |
probably damaging |
Het |
| Cdk5rap1 |
T |
C |
2: 154,348,716 |
T442A |
probably damaging |
Het |
| Chn2 |
T |
C |
6: 54,269,426 |
|
probably benign |
Het |
| Cic |
C |
A |
7: 25,272,346 |
R501S |
possibly damaging |
Het |
| Coch |
A |
G |
12: 51,601,812 |
|
probably null |
Het |
| Defa25 |
G |
A |
8: 21,084,490 |
V17I |
probably null |
Het |
| Dglucy |
T |
C |
12: 100,838,700 |
|
probably null |
Het |
| Dtx1 |
T |
G |
5: 120,681,286 |
T616P |
possibly damaging |
Het |
| Eef1g |
T |
C |
19: 8,969,977 |
L171P |
probably benign |
Het |
| Fam135a |
A |
G |
1: 24,030,394 |
S465P |
probably damaging |
Het |
| Gm14025 |
A |
G |
2: 129,039,601 |
L135P |
probably damaging |
Het |
| Gm14412 |
A |
T |
2: 177,314,685 |
C472* |
probably null |
Het |
| Gm7104 |
T |
C |
12: 88,286,042 |
|
noncoding transcript |
Het |
| Got2 |
A |
G |
8: 95,888,230 |
S26P |
probably benign |
Het |
| H2-M11 |
A |
G |
17: 36,549,231 |
I329M |
probably damaging |
Het |
| Hmcn2 |
T |
A |
2: 31,382,394 |
D1295E |
possibly damaging |
Het |
| Hoxd12 |
G |
T |
2: 74,675,427 |
R114L |
probably damaging |
Het |
| Ilkap |
A |
C |
1: 91,387,250 |
D124E |
probably damaging |
Het |
| Med6 |
T |
C |
12: 81,581,851 |
Y88C |
probably damaging |
Het |
| Mep1a |
A |
T |
17: 43,475,041 |
L719* |
probably null |
Het |
| Mmp23 |
T |
C |
4: 155,652,023 |
Y187C |
probably damaging |
Het |
| Myo1g |
A |
G |
11: 6,520,760 |
M32T |
possibly damaging |
Het |
| Ncstn |
T |
C |
1: 172,067,494 |
E614G |
probably benign |
Het |
| Nr2c2 |
C |
T |
6: 92,163,138 |
R464W |
probably damaging |
Het |
| Olfr1309 |
G |
A |
2: 111,983,297 |
T259M |
possibly damaging |
Het |
| Otub2 |
T |
A |
12: 103,392,826 |
L58* |
probably null |
Het |
| Pcdhga12 |
G |
A |
18: 37,767,629 |
V505I |
probably benign |
Het |
| Pcdhga9 |
T |
A |
18: 37,737,844 |
V242D |
probably damaging |
Het |
| Pex1 |
C |
T |
5: 3,626,084 |
L891F |
probably damaging |
Het |
| Pgm1 |
C |
T |
5: 64,112,061 |
T497I |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,196,681 |
F171L |
probably damaging |
Het |
| Pilrb1 |
T |
G |
5: 137,857,392 |
K79T |
probably benign |
Het |
| Pin1 |
C |
T |
9: 20,655,364 |
R21W |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,686,392 |
|
probably benign |
Het |
| Rad17 |
G |
A |
13: 100,622,863 |
A552V |
possibly damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,718,868 |
T249A |
probably benign |
Het |
| Rtkn |
A |
T |
6: 83,135,976 |
I10F |
probably benign |
Het |
| Scube2 |
T |
A |
7: 109,857,590 |
I103F |
possibly damaging |
Het |
| Sec23b |
A |
G |
2: 144,581,973 |
H514R |
probably benign |
Het |
| Serbp1 |
T |
A |
6: 67,272,220 |
D223E |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,111,392 |
V260L |
probably benign |
Het |
| Slc22a23 |
A |
G |
13: 34,183,126 |
I633T |
probably damaging |
Het |
| Stk19 |
A |
T |
17: 34,824,747 |
|
probably benign |
Het |
| Svs2 |
T |
C |
2: 164,237,127 |
M287V |
probably benign |
Het |
| Synj1 |
A |
G |
16: 91,010,096 |
F58L |
possibly damaging |
Het |
| Tg |
T |
C |
15: 66,674,023 |
V198A |
probably damaging |
Het |
| Tle4 |
A |
T |
19: 14,597,388 |
Y9N |
probably damaging |
Het |
| Tmem57 |
A |
G |
4: 134,804,481 |
Y626H |
probably damaging |
Het |
| Tmx3 |
G |
A |
18: 90,524,335 |
A186T |
possibly damaging |
Het |
| Traf3 |
G |
A |
12: 111,255,245 |
S280N |
possibly damaging |
Het |
| Trmt13 |
A |
G |
3: 116,581,518 |
F447S |
probably damaging |
Het |
| Trp53bp1 |
T |
A |
2: 121,228,626 |
H918L |
probably damaging |
Het |
| Ush2a |
T |
G |
1: 188,728,504 |
V2654G |
probably benign |
Het |
| Vmn2r25 |
A |
G |
6: 123,840,098 |
Y175H |
probably damaging |
Het |
| Zfp335 |
T |
C |
2: 164,892,189 |
D1330G |
probably damaging |
Het |
|
| Other mutations in Syne3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01154:Syne3
|
APN |
12 |
104,958,069 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01986:Syne3
|
APN |
12 |
104,968,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02303:Syne3
|
APN |
12 |
104,963,294 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02469:Syne3
|
APN |
12 |
104,954,306 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL03127:Syne3
|
APN |
12 |
104,943,428 (GRCm38) |
missense |
probably benign |
0.02 |
|
BB008:Syne3
|
UTSW |
12 |
104,963,232 (GRCm38) |
missense |
probably damaging |
0.97 |
|
BB018:Syne3
|
UTSW |
12 |
104,963,232 (GRCm38) |
missense |
probably damaging |
0.97 |
|
PIT4791001:Syne3
|
UTSW |
12 |
104,963,179 (GRCm38) |
missense |
probably benign |
|
|
R0436:Syne3
|
UTSW |
12 |
104,946,924 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0471:Syne3
|
UTSW |
12 |
104,943,426 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0613:Syne3
|
UTSW |
12 |
104,958,112 (GRCm38) |
missense |
probably benign |
|
|
R0662:Syne3
|
UTSW |
12 |
104,961,510 (GRCm38) |
missense |
probably benign |
0.44 |
|
R0707:Syne3
|
UTSW |
12 |
104,969,360 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1321:Syne3
|
UTSW |
12 |
104,975,796 (GRCm38) |
missense |
probably benign |
0.14 |
|
R1494:Syne3
|
UTSW |
12 |
104,955,582 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R2035:Syne3
|
UTSW |
12 |
104,958,127 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2147:Syne3
|
UTSW |
12 |
104,953,098 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2326:Syne3
|
UTSW |
12 |
104,969,234 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2923:Syne3
|
UTSW |
12 |
104,968,084 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3710:Syne3
|
UTSW |
12 |
104,943,438 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4542:Syne3
|
UTSW |
12 |
104,969,244 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4544:Syne3
|
UTSW |
12 |
104,959,469 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5110:Syne3
|
UTSW |
12 |
104,943,370 (GRCm38) |
missense |
probably benign |
0.10 |
|
R5256:Syne3
|
UTSW |
12 |
104,975,880 (GRCm38) |
start codon destroyed |
probably null |
1.00 |
|
R5490:Syne3
|
UTSW |
12 |
104,955,672 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5616:Syne3
|
UTSW |
12 |
104,955,678 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5730:Syne3
|
UTSW |
12 |
104,961,454 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5941:Syne3
|
UTSW |
12 |
104,946,992 (GRCm38) |
missense |
probably benign |
|
|
R6208:Syne3
|
UTSW |
12 |
104,943,363 (GRCm38) |
missense |
probably benign |
0.12 |
|
R6456:Syne3
|
UTSW |
12 |
104,940,704 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R6566:Syne3
|
UTSW |
12 |
104,946,707 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6957:Syne3
|
UTSW |
12 |
104,954,302 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7251:Syne3
|
UTSW |
12 |
104,961,571 (GRCm38) |
frame shift |
probably null |
|
|
R7388:Syne3
|
UTSW |
12 |
104,967,908 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7591:Syne3
|
UTSW |
12 |
104,940,604 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7614:Syne3
|
UTSW |
12 |
104,946,642 (GRCm38) |
missense |
not run |
|
|
R7740:Syne3
|
UTSW |
12 |
104,954,287 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7763:Syne3
|
UTSW |
12 |
104,997,495 (GRCm38) |
start gained |
probably benign |
|
|
R7931:Syne3
|
UTSW |
12 |
104,963,232 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8973:Syne3
|
UTSW |
12 |
104,959,395 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9031:Syne3
|
UTSW |
12 |
104,939,612 (GRCm38) |
missense |
probably benign |
0.45 |
|
R9263:Syne3
|
UTSW |
12 |
104,968,156 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9579:Syne3
|
UTSW |
12 |
104,975,848 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9665:Syne3
|
UTSW |
12 |
104,957,988 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9668:Syne3
|
UTSW |
12 |
104,932,209 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGAGATTCCACACACTG -3'
(R):5'- CTCAGTGCATACAAGTTCCCAC -3'
Sequencing Primer
(F):5'- ACTGAACCAGTGGCCTCC -3'
(R):5'- ACACTTGTGGTAGCCCATG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation