Incidental Mutation 'R5110:Syne3'
| ID |
393815 |
| 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 |
042698-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5110 (G1)
|
| Quality Score |
204 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
104896192-104976068 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 104909629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 736
(R736C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067005]
[ENSMUST00000095439]
[ENSMUST00000109927]
|
| AlphaFold |
Q4FZC9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067005
AA Change: R736C
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000065771
Gene: ENSMUSG00000054150
AA Change: R736C
| 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 benign
Transcript: ENSMUST00000095439
AA Change: R823C
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000093090
Gene: ENSMUSG00000054150
AA Change: R823C
| 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
AA Change: R736C
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000105553
Gene: ENSMUSG00000054150
AA Change: R736C
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
C |
A |
9: 124,057,987 (GRCm39) |
|
probably null |
Het |
| 2310016G11Rik |
G |
A |
7: 44,327,286 (GRCm39) |
|
noncoding transcript |
Het |
| Abi2 |
G |
A |
1: 60,489,280 (GRCm39) |
V98I |
probably benign |
Het |
| Adam21 |
T |
C |
12: 81,606,989 (GRCm39) |
T258A |
probably benign |
Het |
| Adam33 |
A |
T |
2: 130,895,690 (GRCm39) |
C542S |
probably damaging |
Het |
| Adamts15 |
A |
G |
9: 30,832,740 (GRCm39) |
V265A |
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,992,123 (GRCm39) |
D4469V |
probably damaging |
Het |
| Aicda |
A |
G |
6: 122,538,144 (GRCm39) |
N101D |
probably benign |
Het |
| Als2 |
A |
T |
1: 59,224,600 (GRCm39) |
D1040E |
probably damaging |
Het |
| Car15 |
T |
C |
16: 17,653,211 (GRCm39) |
R319G |
possibly damaging |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Col1a1 |
T |
C |
11: 94,832,419 (GRCm39) |
|
probably null |
Het |
| Col25a1 |
A |
G |
3: 130,378,374 (GRCm39) |
*594W |
probably null |
Het |
| Cwf19l2 |
A |
G |
9: 3,450,012 (GRCm39) |
|
probably null |
Het |
| Dctn4 |
C |
T |
18: 60,679,387 (GRCm39) |
P236S |
probably damaging |
Het |
| Dennd2b |
A |
G |
7: 109,141,697 (GRCm39) |
S556P |
probably benign |
Het |
| Ehmt1 |
C |
A |
2: 24,742,802 (GRCm39) |
C459F |
probably benign |
Het |
| Enox1 |
T |
C |
14: 77,945,127 (GRCm39) |
|
probably null |
Het |
| Fam136b-ps |
A |
G |
15: 31,276,856 (GRCm39) |
|
probably benign |
Het |
| Fzd1 |
T |
C |
5: 4,806,448 (GRCm39) |
D378G |
probably benign |
Het |
| Golga5 |
G |
A |
12: 102,438,336 (GRCm39) |
R17Q |
probably benign |
Het |
| Hk1 |
A |
T |
10: 62,122,430 (GRCm39) |
Y422N |
probably damaging |
Het |
| Hsf4 |
A |
G |
8: 105,999,427 (GRCm39) |
D255G |
probably benign |
Het |
| Ift81 |
A |
G |
5: 122,689,121 (GRCm39) |
V665A |
probably benign |
Het |
| Igkv13-84 |
T |
C |
6: 68,916,592 (GRCm39) |
F3L |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 192,020,055 (GRCm39) |
S433R |
possibly damaging |
Het |
| Ktn1 |
A |
G |
14: 47,941,744 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
A |
T |
2: 91,327,417 (GRCm39) |
D1471V |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,261,801 (GRCm39) |
D6990E |
probably damaging |
Het |
| Map3k6 |
G |
A |
4: 132,974,859 (GRCm39) |
|
probably benign |
Het |
| Miox |
T |
A |
15: 89,219,759 (GRCm39) |
D82E |
probably benign |
Het |
| Or4n5 |
T |
G |
14: 50,133,032 (GRCm39) |
I76L |
possibly damaging |
Het |
| Ovgp1 |
G |
C |
3: 105,885,099 (GRCm39) |
R133P |
probably damaging |
Het |
| Per2 |
G |
A |
1: 91,357,237 (GRCm39) |
T642I |
possibly damaging |
Het |
| Pparg |
T |
C |
6: 115,449,964 (GRCm39) |
V321A |
probably damaging |
Het |
| Pptc7 |
T |
A |
5: 122,446,312 (GRCm39) |
N17K |
probably benign |
Het |
| Prpf19 |
T |
C |
19: 10,876,651 (GRCm39) |
|
probably benign |
Het |
| Rai14 |
T |
C |
15: 10,690,496 (GRCm39) |
|
probably benign |
Het |
| Sardh |
T |
C |
2: 27,079,559 (GRCm39) |
D911G |
probably benign |
Het |
| Sbf2 |
T |
A |
7: 109,963,864 (GRCm39) |
T994S |
probably benign |
Het |
| Slc1a1 |
G |
A |
19: 28,889,208 (GRCm39) |
E494K |
probably benign |
Het |
| Smarcc1 |
A |
G |
9: 110,026,852 (GRCm39) |
K771E |
possibly damaging |
Het |
| Stim1 |
T |
C |
7: 101,917,629 (GRCm39) |
V3A |
unknown |
Het |
| Synj2 |
T |
C |
17: 6,087,990 (GRCm39) |
V986A |
probably benign |
Het |
| Tinag |
A |
G |
9: 76,859,289 (GRCm39) |
S440P |
probably damaging |
Het |
| Tshz2 |
A |
G |
2: 169,726,117 (GRCm39) |
T238A |
possibly damaging |
Het |
| Ttc8 |
T |
C |
12: 98,908,562 (GRCm39) |
M17T |
probably benign |
Het |
| Tubgcp5 |
G |
A |
7: 55,458,385 (GRCm39) |
R432Q |
probably damaging |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,974 (GRCm39) |
|
probably null |
Het |
| Usp4 |
T |
A |
9: 108,239,877 (GRCm39) |
I202N |
probably damaging |
Het |
| Vmn1r194 |
T |
G |
13: 22,429,170 (GRCm39) |
S262R |
probably benign |
Het |
| Vmn2r101 |
T |
C |
17: 19,831,897 (GRCm39) |
F631S |
possibly damaging |
Het |
| Vps13b |
T |
A |
15: 35,770,955 (GRCm39) |
S2133T |
probably damaging |
Het |
| Zfp13 |
C |
A |
17: 23,799,834 (GRCm39) |
V77F |
probably benign |
Het |
| Zscan10 |
T |
A |
17: 23,828,606 (GRCm39) |
C306S |
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 |
|
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'- CTACCTGCAGATGGAGACTTG -3'
(R):5'- AATGTGGATGACTAGAGACTGCTC -3'
Sequencing Primer
(F):5'- CTGCAGATGGAGACTTGACCTG -3'
(R):5'- GAGACTGCTCTTCGTCCCTCTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation