Incidental Mutation 'R7591:Syne3'
ID |
587412 |
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 |
045638-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7591 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
104896192-104976068 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 104906863 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093090
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067005]
[ENSMUST00000067005]
[ENSMUST00000095439]
[ENSMUST00000095439]
[ENSMUST00000109927]
[ENSMUST00000109927]
|
AlphaFold |
Q4FZC9 |
Predicted Effect |
probably null
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 null
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 null
Transcript: ENSMUST00000095439
|
SMART Domains |
Protein: ENSMUSP00000093090 Gene: ENSMUSG00000054150
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 null
Transcript: ENSMUST00000095439
|
SMART Domains |
Protein: ENSMUSP00000093090 Gene: ENSMUSG00000054150
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 null
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 |
|
Predicted Effect |
probably null
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (45/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccne2 |
T |
C |
4: 11,201,393 (GRCm39) |
I307T |
probably benign |
Het |
Chrm3 |
A |
T |
13: 9,927,349 (GRCm39) |
C562* |
probably null |
Het |
Cldn11 |
A |
T |
3: 31,204,436 (GRCm39) |
E46D |
probably benign |
Het |
Cyp4a14 |
A |
G |
4: 115,347,157 (GRCm39) |
|
probably null |
Het |
Dbh |
A |
G |
2: 27,060,522 (GRCm39) |
T233A |
probably damaging |
Het |
Dennd2c |
T |
A |
3: 103,040,661 (GRCm39) |
Y309N |
possibly damaging |
Het |
Dnttip2 |
T |
A |
3: 122,070,117 (GRCm39) |
L444* |
probably null |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Epop |
A |
T |
11: 97,519,158 (GRCm39) |
V317E |
probably damaging |
Het |
Eppk1 |
T |
C |
15: 75,991,797 (GRCm39) |
T1695A |
possibly damaging |
Het |
Fam149a |
T |
A |
8: 45,803,472 (GRCm39) |
I421F |
possibly damaging |
Het |
Impa2 |
T |
C |
18: 67,451,480 (GRCm39) |
L258P |
probably damaging |
Het |
Itga1 |
G |
A |
13: 115,119,315 (GRCm39) |
R855W |
probably damaging |
Het |
Kcnh5 |
T |
C |
12: 75,054,541 (GRCm39) |
T468A |
probably benign |
Het |
Kif11 |
A |
G |
19: 37,372,711 (GRCm39) |
K33R |
probably damaging |
Het |
Lamb1 |
C |
A |
12: 31,376,647 (GRCm39) |
A1657E |
probably damaging |
Het |
Macc1 |
T |
C |
12: 119,410,393 (GRCm39) |
V387A |
probably damaging |
Het |
Nalcn |
T |
C |
14: 123,561,297 (GRCm39) |
T734A |
probably benign |
Het |
Nphp3 |
T |
C |
9: 103,895,477 (GRCm39) |
|
probably null |
Het |
Nutm2 |
A |
G |
13: 50,627,903 (GRCm39) |
I461M |
probably damaging |
Het |
Or14p1 |
T |
C |
13: 65,292,462 (GRCm39) |
F130L |
probably benign |
Het |
Or4p7 |
G |
A |
2: 88,222,220 (GRCm39) |
V210M |
probably benign |
Het |
Or4s2 |
A |
C |
2: 88,473,811 (GRCm39) |
K233N |
probably damaging |
Het |
Or5b112 |
A |
G |
19: 13,319,619 (GRCm39) |
S166G |
probably benign |
Het |
Pigo |
T |
C |
4: 43,025,093 (GRCm39) |
N2S |
probably benign |
Het |
Plcl1 |
A |
T |
1: 55,736,608 (GRCm39) |
I650L |
probably benign |
Het |
Ppcdc |
A |
T |
9: 57,342,262 (GRCm39) |
V20D |
probably damaging |
Het |
Pramel27 |
A |
T |
4: 143,577,481 (GRCm39) |
I88L |
probably benign |
Het |
Rhobtb2 |
A |
G |
14: 70,037,190 (GRCm39) |
V78A |
possibly damaging |
Het |
Rp1l1 |
T |
C |
14: 64,263,558 (GRCm39) |
V226A |
probably damaging |
Het |
Scrt1 |
C |
A |
15: 76,403,694 (GRCm39) |
G99C |
probably damaging |
Het |
Skint9 |
A |
T |
4: 112,248,147 (GRCm39) |
I199N |
probably damaging |
Het |
Slc5a4a |
T |
C |
10: 75,983,501 (GRCm39) |
|
probably benign |
Het |
Smad3 |
C |
T |
9: 63,561,999 (GRCm39) |
W326* |
probably null |
Het |
Spata18 |
A |
T |
5: 73,829,759 (GRCm39) |
I305F |
|
Het |
Spata31h1 |
C |
A |
10: 82,128,046 (GRCm39) |
V1655F |
probably benign |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Trim69 |
G |
A |
2: 121,998,454 (GRCm39) |
R142Q |
probably benign |
Het |
Vmn1r40 |
A |
T |
6: 89,691,755 (GRCm39) |
I191F |
probably benign |
Het |
Vmn2r16 |
T |
A |
5: 109,510,223 (GRCm39) |
D535E |
probably damaging |
Het |
Vwa5b2 |
A |
G |
16: 20,420,317 (GRCm39) |
E742G |
probably damaging |
Het |
Zfp442 |
A |
T |
2: 150,250,092 (GRCm39) |
Y603* |
probably null |
Het |
Zp1 |
T |
C |
19: 10,896,835 (GRCm39) |
N68S |
probably 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 |
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'- TTAGTCATAGACTCCAGCCTCC -3'
(R):5'- ATCCTTATCAGCCAGGTGGG -3'
Sequencing Primer
(F):5'- CTCCCTGGGAGGTAAGATGG -3'
(R):5'- CCAGGTGGGGTTCTTGAGCC -3'
|
Posted On |
2019-10-24 |