Incidental Mutation 'R9579:Syne3'
ID |
722474 |
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 # |
R9579 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
104896192-104976068 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 104942107 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 12
(S12G)
|
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 damaging
Transcript: ENSMUST00000095439
AA Change: S12G
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000093090 Gene: ENSMUSG00000054150 AA Change: S12G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam19 |
C |
A |
11: 46,009,262 (GRCm39) |
H229N |
probably benign |
Het |
Ak9 |
C |
A |
10: 41,213,576 (GRCm39) |
H260Q |
|
Het |
Akap3 |
G |
A |
6: 126,850,974 (GRCm39) |
V831I |
probably damaging |
Het |
Arhgap45 |
T |
C |
10: 79,853,843 (GRCm39) |
F119S |
probably benign |
Het |
Best3 |
A |
G |
10: 116,829,100 (GRCm39) |
T127A |
probably damaging |
Het |
Ccdc7a |
G |
A |
8: 129,774,134 (GRCm39) |
Q134* |
probably null |
Het |
Ceacam5 |
C |
A |
7: 17,479,561 (GRCm39) |
S226Y |
probably damaging |
Het |
Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
Cul4a |
G |
A |
8: 13,186,147 (GRCm39) |
E450K |
probably damaging |
Het |
Cyb5a |
A |
T |
18: 84,891,273 (GRCm39) |
R89S |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,368,041 (GRCm39) |
L1766P |
probably damaging |
Het |
Gbp4 |
T |
C |
5: 105,270,947 (GRCm39) |
E228G |
probably damaging |
Het |
Ghr |
A |
G |
15: 3,349,612 (GRCm39) |
I522T |
probably benign |
Het |
Gm5225 |
A |
C |
17: 24,242,897 (GRCm39) |
H22P |
possibly damaging |
Het |
Herc2 |
T |
A |
7: 55,758,500 (GRCm39) |
C796S |
probably damaging |
Het |
Hmgxb4 |
G |
T |
8: 75,756,638 (GRCm39) |
A588S |
probably damaging |
Het |
Lats2 |
G |
A |
14: 57,937,191 (GRCm39) |
P433S |
probably damaging |
Het |
Lrfn1 |
C |
T |
7: 28,166,769 (GRCm39) |
T721I |
probably damaging |
Het |
Matcap1 |
A |
T |
8: 106,012,379 (GRCm39) |
S23T |
probably benign |
Het |
Mpzl3 |
G |
A |
9: 44,973,350 (GRCm39) |
V30I |
probably benign |
Het |
Or2r3 |
A |
T |
6: 42,448,574 (GRCm39) |
C179* |
probably null |
Het |
Pcdh15 |
A |
G |
10: 74,457,117 (GRCm39) |
Y1298C |
possibly damaging |
Het |
Plcd4 |
C |
A |
1: 74,596,948 (GRCm39) |
H397N |
probably benign |
Het |
Pnn |
G |
A |
12: 59,117,030 (GRCm39) |
A201T |
possibly damaging |
Het |
Ptprd |
C |
G |
4: 75,872,315 (GRCm39) |
A1134P |
possibly damaging |
Het |
Rabl3 |
T |
C |
16: 37,362,230 (GRCm39) |
V23A |
probably damaging |
Het |
Rnf157 |
T |
C |
11: 116,240,822 (GRCm39) |
N423S |
probably benign |
Het |
Rtn1 |
T |
C |
12: 72,270,289 (GRCm39) |
D601G |
probably damaging |
Het |
Rxfp1 |
A |
G |
3: 79,557,946 (GRCm39) |
Y511H |
probably damaging |
Het |
Sema5b |
T |
C |
16: 35,467,582 (GRCm39) |
M282T |
probably benign |
Het |
Slco5a1 |
G |
T |
1: 12,949,383 (GRCm39) |
S669* |
probably null |
Het |
Sphkap |
C |
G |
1: 83,255,295 (GRCm39) |
G818A |
probably damaging |
Het |
Stk26 |
C |
T |
X: 49,930,618 (GRCm39) |
|
probably benign |
Het |
Tmem150a |
C |
A |
6: 72,334,070 (GRCm39) |
Q51K |
probably benign |
Het |
Ttn |
C |
T |
2: 76,550,196 (GRCm39) |
D31662N |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,578,602 (GRCm39) |
G24097D |
probably damaging |
Het |
Tubb4b |
T |
C |
2: 25,114,139 (GRCm39) |
T55A |
probably benign |
Het |
Vcan |
A |
T |
13: 89,837,713 (GRCm39) |
D2610E |
possibly damaging |
Het |
Xkr5 |
T |
C |
8: 18,983,785 (GRCm39) |
T586A |
probably benign |
Het |
Zfp260 |
T |
C |
7: 29,805,108 (GRCm39) |
F336S |
|
Het |
Zic1 |
A |
G |
9: 91,246,790 (GRCm39) |
F94S |
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 |
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 |
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'- ATGAACGAATAGCAGGTTCCTC -3'
(R):5'- CACTTAAGATTGACAGCCGTGC -3'
Sequencing Primer
(F):5'- AACGAATAGCAGGTTCCTCTTGTG -3'
(R):5'- TGACAGCCGTGCCGAGTG -3'
|
Posted On |
2022-08-09 |