Incidental Mutation 'R1494:Syne3'
ID |
163833 |
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 |
039545-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1494 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
104896192-104976068 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 104921841 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 438
(V438E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105553
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067005]
[ENSMUST00000095439]
[ENSMUST00000109927]
|
AlphaFold |
Q4FZC9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067005
AA Change: V438E
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000065771 Gene: ENSMUSG00000054150 AA Change: V438E
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 |
possibly damaging
Transcript: ENSMUST00000095439
AA Change: V525E
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000093090 Gene: ENSMUSG00000054150 AA Change: V525E
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 |
possibly damaging
Transcript: ENSMUST00000109927
AA Change: V438E
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000105553 Gene: ENSMUSG00000054150 AA Change: V438E
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.3%
|
Validation Efficiency |
97% (57/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700067P10Rik |
A |
G |
17: 48,400,991 (GRCm39) |
E92G |
probably benign |
Het |
Abca13 |
C |
T |
11: 9,416,429 (GRCm39) |
Q4064* |
probably null |
Het |
Abca14 |
G |
A |
7: 119,815,524 (GRCm39) |
M257I |
probably benign |
Het |
Acsm2 |
T |
A |
7: 119,174,855 (GRCm39) |
C207S |
probably damaging |
Het |
Actr3 |
A |
G |
1: 125,344,018 (GRCm39) |
I67T |
probably benign |
Het |
Adcy7 |
T |
C |
8: 89,046,835 (GRCm39) |
V606A |
probably benign |
Het |
Ahnak2 |
G |
A |
12: 112,751,570 (GRCm39) |
S54F |
probably damaging |
Het |
Ano6 |
T |
C |
15: 95,870,388 (GRCm39) |
S848P |
probably damaging |
Het |
Atg3 |
C |
T |
16: 44,992,123 (GRCm39) |
|
probably benign |
Het |
Atp8b1 |
T |
A |
18: 64,697,597 (GRCm39) |
S416C |
probably damaging |
Het |
C2cd5 |
A |
G |
6: 142,987,072 (GRCm39) |
|
probably benign |
Het |
Capn11 |
A |
T |
17: 45,954,735 (GRCm39) |
V134E |
probably damaging |
Het |
Ccnd3 |
A |
G |
17: 47,909,033 (GRCm39) |
|
probably null |
Het |
Chaf1b |
T |
A |
16: 93,684,998 (GRCm39) |
V149E |
probably damaging |
Het |
Col5a2 |
T |
A |
1: 45,542,074 (GRCm39) |
M1L |
unknown |
Het |
Copa |
T |
C |
1: 171,931,694 (GRCm39) |
I315T |
probably benign |
Het |
Cyp3a57 |
A |
G |
5: 145,318,077 (GRCm39) |
M353V |
probably damaging |
Het |
Dcaf6 |
T |
C |
1: 165,160,942 (GRCm39) |
M828V |
probably damaging |
Het |
Dock2 |
T |
A |
11: 34,232,761 (GRCm39) |
K1080* |
probably null |
Het |
Dock6 |
A |
G |
9: 21,726,038 (GRCm39) |
V1424A |
probably benign |
Het |
Foxa1 |
T |
C |
12: 57,588,984 (GRCm39) |
D412G |
probably damaging |
Het |
Foxp4 |
G |
C |
17: 48,191,278 (GRCm39) |
|
probably benign |
Het |
Galnt9 |
T |
A |
5: 110,736,196 (GRCm39) |
S171T |
probably damaging |
Het |
Glt6d1 |
A |
G |
2: 25,684,260 (GRCm39) |
Y249H |
probably damaging |
Het |
Gm37240 |
A |
T |
3: 84,434,998 (GRCm39) |
Y104N |
probably damaging |
Het |
Gpx8 |
C |
T |
13: 113,182,149 (GRCm39) |
E95K |
possibly damaging |
Het |
Grm1 |
T |
C |
10: 10,565,450 (GRCm39) |
T953A |
probably benign |
Het |
Helz |
T |
C |
11: 107,494,889 (GRCm39) |
|
probably benign |
Het |
Hif3a |
T |
C |
7: 16,788,647 (GRCm39) |
Y108C |
probably damaging |
Het |
Kcnj13 |
A |
T |
1: 87,316,939 (GRCm39) |
L58Q |
probably damaging |
Het |
Mfsd14b |
A |
T |
13: 65,243,485 (GRCm39) |
V53D |
probably damaging |
Het |
Mrps7 |
G |
C |
11: 115,494,952 (GRCm39) |
|
probably benign |
Het |
Mug1 |
G |
A |
6: 121,856,259 (GRCm39) |
G1013D |
probably damaging |
Het |
Or52h7 |
T |
A |
7: 104,214,038 (GRCm39) |
Y203* |
probably null |
Het |
Or6c8 |
A |
T |
10: 128,915,484 (GRCm39) |
M116K |
probably damaging |
Het |
Pax6 |
T |
C |
2: 105,521,955 (GRCm39) |
I19T |
probably benign |
Het |
Pde8b |
G |
A |
13: 95,184,304 (GRCm39) |
R416C |
probably damaging |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
Pygl |
G |
A |
12: 70,246,504 (GRCm39) |
R348W |
probably damaging |
Het |
Ralgapa1 |
T |
A |
12: 55,731,309 (GRCm39) |
D1874V |
probably damaging |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Sncaip |
T |
C |
18: 53,001,958 (GRCm39) |
S160P |
probably damaging |
Het |
Sptbn4 |
A |
G |
7: 27,133,719 (GRCm39) |
V79A |
probably damaging |
Het |
Sptlc3 |
A |
T |
2: 139,431,480 (GRCm39) |
Y334F |
possibly damaging |
Het |
Supt16 |
A |
G |
14: 52,409,916 (GRCm39) |
Y764H |
probably benign |
Het |
Tagap1 |
T |
C |
17: 7,224,210 (GRCm39) |
D162G |
probably damaging |
Het |
Terb1 |
T |
C |
8: 105,225,122 (GRCm39) |
|
probably benign |
Het |
Themis3 |
C |
A |
17: 66,866,949 (GRCm39) |
R97L |
probably benign |
Het |
Tnk1 |
T |
A |
11: 69,747,372 (GRCm39) |
E86D |
possibly damaging |
Het |
Tnpo3 |
A |
G |
6: 29,557,043 (GRCm39) |
L53P |
probably damaging |
Het |
Trpc6 |
G |
A |
9: 8,658,305 (GRCm39) |
R725K |
probably benign |
Het |
Ttll11 |
T |
G |
2: 35,685,391 (GRCm39) |
T566P |
probably damaging |
Het |
Unc5c |
A |
T |
3: 141,533,310 (GRCm39) |
T779S |
possibly damaging |
Het |
Zfp42 |
A |
G |
8: 43,748,638 (GRCm39) |
C288R |
possibly damaging |
Het |
Zfp763 |
G |
A |
17: 33,240,477 (GRCm39) |
T52I |
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 |
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 |
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'- GCCGGAAGCTTGCCATTAATAACAC -3'
(R):5'- TGTAAAATTCAGGGCCTCCCAACC -3'
Sequencing Primer
(F):5'- GCCATTAATAACACTGATTCCTGG -3'
(R):5'- AACCCACTTCTGCAAGTCTG -3'
|
Posted On |
2014-03-28 |