Incidental Mutation 'R9668:Syne3'
| ID |
727946 |
| 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 # |
R9668 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
104896192-104976068 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104898468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 962
(S962P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067005]
[ENSMUST00000095439]
[ENSMUST00000109927]
|
| AlphaFold |
Q4FZC9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067005
AA Change: S875P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065771
Gene: ENSMUSG00000054150
AA Change: S875P
| 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: S962P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093090
Gene: ENSMUSG00000054150
AA Change: S962P
| 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: S875P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105553
Gene: ENSMUSG00000054150
AA Change: S875P
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox1 |
G |
T |
11: 116,089,137 (GRCm39) |
Y60* |
probably null |
Het |
| Acp7 |
T |
A |
7: 28,314,562 (GRCm39) |
|
probably null |
Het |
| Adamts17 |
G |
A |
7: 66,797,438 (GRCm39) |
V1052I |
possibly damaging |
Het |
| Ankrd13b |
T |
A |
11: 77,368,594 (GRCm39) |
E42V |
possibly damaging |
Het |
| Ano1 |
C |
A |
7: 144,164,579 (GRCm39) |
|
probably null |
Het |
| Atp5pb |
C |
T |
3: 105,863,356 (GRCm39) |
V27I |
probably benign |
Het |
| C2cd2 |
A |
G |
16: 97,671,418 (GRCm39) |
S494P |
probably damaging |
Het |
| Cd320 |
G |
A |
17: 34,065,113 (GRCm39) |
C82Y |
probably damaging |
Het |
| Cdc16 |
T |
A |
8: 13,817,552 (GRCm39) |
S288T |
possibly damaging |
Het |
| Chrne |
A |
G |
11: 70,507,779 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
G |
A |
9: 79,546,960 (GRCm39) |
Q2291* |
probably null |
Het |
| Cps1 |
A |
G |
1: 67,213,649 (GRCm39) |
S794G |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,261,772 (GRCm39) |
D908E |
probably benign |
Het |
| Dpf1 |
C |
T |
7: 29,009,084 (GRCm39) |
Q70* |
probably null |
Het |
| Fam227a |
A |
T |
15: 79,526,444 (GRCm39) |
N129K |
probably benign |
Het |
| Fcho2 |
T |
A |
13: 98,913,965 (GRCm39) |
I211F |
probably benign |
Het |
| Fezf1 |
T |
C |
6: 23,247,574 (GRCm39) |
D167G |
probably benign |
Het |
| Flt3 |
G |
A |
5: 147,293,694 (GRCm39) |
P461S |
probably benign |
Het |
| Fry |
G |
T |
5: 150,282,318 (GRCm39) |
A314S |
probably damaging |
Het |
| Gm6309 |
A |
G |
5: 146,105,026 (GRCm39) |
S296P |
probably benign |
Het |
| Gmppb |
T |
G |
9: 107,928,362 (GRCm39) |
V291G |
probably damaging |
Het |
| Hmcn1 |
G |
T |
1: 150,619,492 (GRCm39) |
S1207R |
probably benign |
Het |
| Iars1 |
C |
T |
13: 49,840,885 (GRCm39) |
P6L |
probably damaging |
Het |
| Kdm5d |
T |
A |
Y: 943,075 (GRCm39) |
S1519R |
possibly damaging |
Het |
| Kpna2 |
G |
A |
11: 106,881,541 (GRCm39) |
T363I |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,075,982 (GRCm39) |
H1886Q |
|
Het |
| Meak7 |
T |
C |
8: 120,488,514 (GRCm39) |
E436G |
probably damaging |
Het |
| Mettl5 |
C |
T |
2: 69,711,723 (GRCm39) |
D48N |
probably benign |
Het |
| Mfsd4a |
C |
T |
1: 131,969,628 (GRCm39) |
G442S |
probably damaging |
Het |
| Mief2 |
A |
G |
11: 60,622,074 (GRCm39) |
T215A |
probably damaging |
Het |
| Myt1 |
C |
T |
2: 181,452,135 (GRCm39) |
T824I |
probably damaging |
Het |
| Naprt |
C |
A |
15: 75,765,281 (GRCm39) |
V148L |
possibly damaging |
Het |
| Nckap1l |
C |
T |
15: 103,382,277 (GRCm39) |
R491C |
probably damaging |
Het |
| Nr1i2 |
A |
G |
16: 38,071,573 (GRCm39) |
M321T |
possibly damaging |
Het |
| Nup107 |
A |
T |
10: 117,610,383 (GRCm39) |
I355N |
possibly damaging |
Het |
| Or10j2 |
G |
A |
1: 173,098,183 (GRCm39) |
G147D |
possibly damaging |
Het |
| Or10x4 |
A |
T |
1: 174,218,898 (GRCm39) |
N88Y |
probably benign |
Het |
| Or1e28-ps1 |
A |
G |
11: 73,615,658 (GRCm39) |
I64T |
probably benign |
Het |
| Or1l4b |
T |
G |
2: 37,036,518 (GRCm39) |
M98R |
probably damaging |
Het |
| Or4a80 |
T |
G |
2: 89,582,636 (GRCm39) |
I179L |
probably benign |
Het |
| Or4k35 |
T |
G |
2: 111,100,287 (GRCm39) |
I142L |
probably benign |
Het |
| Pccb |
T |
C |
9: 100,876,634 (GRCm39) |
D320G |
possibly damaging |
Het |
| Pcdhgb6 |
A |
T |
18: 37,875,561 (GRCm39) |
I90L |
probably benign |
Het |
| Pik3r2 |
A |
G |
8: 71,221,459 (GRCm39) |
S682P |
probably damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Plagl1 |
A |
G |
10: 13,004,466 (GRCm39) |
Q578R |
unknown |
Het |
| Ppp1r42 |
A |
G |
1: 10,073,563 (GRCm39) |
I9T |
probably benign |
Het |
| Ptcd3 |
A |
T |
6: 71,871,275 (GRCm39) |
I315K |
possibly damaging |
Het |
| Rnf217 |
A |
G |
10: 31,484,402 (GRCm39) |
L260P |
probably damaging |
Het |
| Selp |
A |
T |
1: 163,968,975 (GRCm39) |
H525L |
possibly damaging |
Het |
| Sh3rf2 |
T |
A |
18: 42,244,347 (GRCm39) |
M303K |
probably benign |
Het |
| Shprh |
A |
T |
10: 11,082,076 (GRCm39) |
I1549F |
probably damaging |
Het |
| Slc38a7 |
G |
T |
8: 96,570,772 (GRCm39) |
A244D |
probably benign |
Het |
| Stxbp6 |
G |
T |
12: 44,949,740 (GRCm39) |
T63K |
probably damaging |
Het |
| Syt10 |
T |
C |
15: 89,711,135 (GRCm39) |
I133V |
probably damaging |
Het |
| Tars1 |
T |
A |
15: 11,394,446 (GRCm39) |
K64* |
probably null |
Het |
| Tcaf3 |
A |
T |
6: 42,566,636 (GRCm39) |
W818R |
probably damaging |
Het |
| Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
| Tmem70 |
A |
C |
1: 16,735,659 (GRCm39) |
E43A |
probably benign |
Het |
| Trim72 |
C |
A |
7: 127,609,092 (GRCm39) |
A298E |
probably damaging |
Het |
| Washc5 |
C |
T |
15: 59,218,062 (GRCm39) |
|
probably null |
Het |
| Zfp707 |
C |
A |
15: 75,847,085 (GRCm39) |
F378L |
possibly damaging |
Het |
| Zfp839 |
G |
A |
12: 110,822,280 (GRCm39) |
A365T |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCAAGTTTGTTCTGGAAAC -3'
(R):5'- GGTTGATCCAGCATGTCCTC -3'
Sequencing Primer
(F):5'- ACAGAGGCAGCATTTGGTC -3'
(R):5'- ATCTCGTATTGGTTCACAGAGTC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation