Incidental Mutation 'IGL03325:Sun2'
ID |
416627 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sun2
|
Ensembl Gene |
ENSMUSG00000042524 |
Gene Name |
Sad1 and UNC84 domain containing 2 |
Synonyms |
B230369L08Rik, Unc84b |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03325
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
79608271-79626737 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 79622849 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 110
(R110Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098006
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046259]
[ENSMUST00000089311]
[ENSMUST00000100439]
[ENSMUST00000159660]
[ENSMUST00000160355]
[ENSMUST00000162499]
|
AlphaFold |
Q8BJS4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046259
AA Change: R110Q
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000047864 Gene: ENSMUSG00000042524 AA Change: R110Q
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
33 |
N/A |
INTRINSIC |
low complexity region
|
63 |
80 |
N/A |
INTRINSIC |
low complexity region
|
106 |
123 |
N/A |
INTRINSIC |
transmembrane domain
|
174 |
196 |
N/A |
INTRINSIC |
transmembrane domain
|
226 |
248 |
N/A |
INTRINSIC |
low complexity region
|
327 |
339 |
N/A |
INTRINSIC |
coiled coil region
|
418 |
453 |
N/A |
INTRINSIC |
coiled coil region
|
491 |
519 |
N/A |
INTRINSIC |
Pfam:Sad1_UNC
|
595 |
729 |
1.3e-49 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000089311
AA Change: R110Q
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000086724 Gene: ENSMUSG00000042524 AA Change: R110Q
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
33 |
N/A |
INTRINSIC |
low complexity region
|
63 |
80 |
N/A |
INTRINSIC |
low complexity region
|
106 |
123 |
N/A |
INTRINSIC |
transmembrane domain
|
194 |
216 |
N/A |
INTRINSIC |
low complexity region
|
295 |
307 |
N/A |
INTRINSIC |
coiled coil region
|
386 |
421 |
N/A |
INTRINSIC |
coiled coil region
|
459 |
487 |
N/A |
INTRINSIC |
Pfam:Sad1_UNC
|
563 |
697 |
1.1e-49 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100439
AA Change: R110Q
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000098006 Gene: ENSMUSG00000042524 AA Change: R110Q
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
33 |
N/A |
INTRINSIC |
low complexity region
|
63 |
80 |
N/A |
INTRINSIC |
low complexity region
|
106 |
123 |
N/A |
INTRINSIC |
transmembrane domain
|
174 |
196 |
N/A |
INTRINSIC |
transmembrane domain
|
224 |
246 |
N/A |
INTRINSIC |
low complexity region
|
325 |
337 |
N/A |
INTRINSIC |
coiled coil region
|
416 |
451 |
N/A |
INTRINSIC |
coiled coil region
|
489 |
517 |
N/A |
INTRINSIC |
Pfam:Sad1_UNC
|
593 |
727 |
1.2e-49 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128342
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159660
|
SMART Domains |
Protein: ENSMUSP00000124504 Gene: ENSMUSG00000042524
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
33 |
N/A |
INTRINSIC |
low complexity region
|
63 |
80 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159762
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160355
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162064
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162392
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162186
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162499
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231189
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SUN1 (MIM 607723) and SUN2 are inner nuclear membrane (INM) proteins that play a major role in nuclear-cytoplasmic connection by formation of a 'bridge' across the nuclear envelope, known as the LINC complex, via interaction with the conserved luminal KASH domain of nesprins (e.g., SYNE1; MIM 608441) located in the outer nuclear membrane (ONM). The LINC complex provides a direct connection between the nuclear lamina and the cytoskeleton, which contributes to nuclear positioning and cellular rigidity (summary by Haque et al., 2010 [PubMed 19933576]).[supplied by OMIM, Nov 2010] PHENOTYPE: Mice homozygous for a null allele exhibit no gross abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
G |
A |
11: 109,844,422 (GRCm39) |
R870C |
possibly damaging |
Het |
Abcf2 |
A |
T |
5: 24,779,210 (GRCm39) |
L113I |
probably damaging |
Het |
Abi1 |
C |
T |
2: 22,861,240 (GRCm39) |
R106Q |
probably damaging |
Het |
Arhgef28 |
A |
G |
13: 98,036,324 (GRCm39) |
V1645A |
probably benign |
Het |
Ccdc198 |
A |
T |
14: 49,481,277 (GRCm39) |
|
probably benign |
Het |
Ceacam1 |
G |
A |
7: 25,175,912 (GRCm39) |
A94V |
possibly damaging |
Het |
Fat2 |
G |
A |
11: 55,173,168 (GRCm39) |
T2515I |
probably damaging |
Het |
Gm5800 |
T |
C |
14: 51,951,983 (GRCm39) |
Y93C |
probably benign |
Het |
Gnl1 |
A |
G |
17: 36,299,548 (GRCm39) |
D573G |
probably damaging |
Het |
Gosr1 |
A |
G |
11: 76,645,229 (GRCm39) |
M105T |
probably benign |
Het |
Gramd1c |
A |
T |
16: 43,825,868 (GRCm39) |
Y303N |
probably benign |
Het |
Heatr9 |
A |
G |
11: 83,404,085 (GRCm39) |
|
probably null |
Het |
Iigp1c |
T |
A |
18: 60,378,883 (GRCm39) |
Y139* |
probably null |
Het |
Itih2 |
T |
C |
2: 10,111,546 (GRCm39) |
D464G |
probably damaging |
Het |
Jcad |
T |
C |
18: 4,673,902 (GRCm39) |
Y555H |
probably benign |
Het |
Krtap19-3 |
A |
T |
16: 88,674,609 (GRCm39) |
*88R |
probably null |
Het |
Mrps11 |
T |
C |
7: 78,440,453 (GRCm39) |
F114S |
probably damaging |
Het |
Nat8 |
A |
T |
6: 85,807,875 (GRCm39) |
V86E |
possibly damaging |
Het |
Nek5 |
T |
C |
8: 22,569,158 (GRCm39) |
T555A |
probably benign |
Het |
Or6c3 |
A |
T |
10: 129,309,474 (GRCm39) |
K304N |
probably benign |
Het |
Pprc1 |
C |
T |
19: 46,049,948 (GRCm39) |
T10I |
possibly damaging |
Het |
Prss16 |
A |
G |
13: 22,187,417 (GRCm39) |
V409A |
possibly damaging |
Het |
Sema3d |
T |
A |
5: 12,513,189 (GRCm39) |
L53Q |
probably damaging |
Het |
Sfmbt2 |
T |
C |
2: 10,582,628 (GRCm39) |
Y696H |
probably damaging |
Het |
Sh2d3c |
C |
T |
2: 32,615,270 (GRCm39) |
A120V |
probably benign |
Het |
Smn1 |
A |
G |
13: 100,264,365 (GRCm39) |
Y32C |
probably damaging |
Het |
Tcp11l2 |
T |
G |
10: 84,440,764 (GRCm39) |
D323E |
possibly damaging |
Het |
Tex55 |
A |
T |
16: 38,648,355 (GRCm39) |
S251R |
probably damaging |
Het |
Tnni3k |
A |
T |
3: 154,667,451 (GRCm39) |
S296R |
probably damaging |
Het |
Uck1 |
G |
A |
2: 32,148,334 (GRCm39) |
R161C |
probably benign |
Het |
Unc79 |
T |
A |
12: 103,135,869 (GRCm39) |
S2435T |
probably damaging |
Het |
Vmn2r114 |
C |
A |
17: 23,510,652 (GRCm39) |
K609N |
probably damaging |
Het |
|
Other mutations in Sun2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0049:Sun2
|
UTSW |
15 |
79,611,810 (GRCm39) |
splice site |
probably benign |
|
R0049:Sun2
|
UTSW |
15 |
79,611,810 (GRCm39) |
splice site |
probably benign |
|
R0189:Sun2
|
UTSW |
15 |
79,621,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R0349:Sun2
|
UTSW |
15 |
79,614,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R1183:Sun2
|
UTSW |
15 |
79,612,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R1751:Sun2
|
UTSW |
15 |
79,609,758 (GRCm39) |
missense |
probably benign |
|
R1767:Sun2
|
UTSW |
15 |
79,609,758 (GRCm39) |
missense |
probably benign |
|
R1843:Sun2
|
UTSW |
15 |
79,621,764 (GRCm39) |
missense |
probably benign |
|
R2005:Sun2
|
UTSW |
15 |
79,610,825 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2062:Sun2
|
UTSW |
15 |
79,622,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R2358:Sun2
|
UTSW |
15 |
79,612,114 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3712:Sun2
|
UTSW |
15 |
79,612,114 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3937:Sun2
|
UTSW |
15 |
79,618,356 (GRCm39) |
missense |
probably benign |
0.14 |
R3938:Sun2
|
UTSW |
15 |
79,618,356 (GRCm39) |
missense |
probably benign |
0.14 |
R4869:Sun2
|
UTSW |
15 |
79,612,587 (GRCm39) |
intron |
probably benign |
|
R4871:Sun2
|
UTSW |
15 |
79,611,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R5375:Sun2
|
UTSW |
15 |
79,611,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R5482:Sun2
|
UTSW |
15 |
79,621,712 (GRCm39) |
missense |
probably benign |
0.01 |
R5555:Sun2
|
UTSW |
15 |
79,618,328 (GRCm39) |
missense |
probably benign |
0.01 |
R5657:Sun2
|
UTSW |
15 |
79,612,150 (GRCm39) |
nonsense |
probably null |
|
R5662:Sun2
|
UTSW |
15 |
79,623,069 (GRCm39) |
missense |
probably benign |
0.01 |
R6144:Sun2
|
UTSW |
15 |
79,614,533 (GRCm39) |
missense |
probably benign |
|
R6975:Sun2
|
UTSW |
15 |
79,618,420 (GRCm39) |
nonsense |
probably null |
|
R7127:Sun2
|
UTSW |
15 |
79,612,100 (GRCm39) |
missense |
probably benign |
0.00 |
R7358:Sun2
|
UTSW |
15 |
79,618,313 (GRCm39) |
missense |
probably benign |
0.29 |
R7614:Sun2
|
UTSW |
15 |
79,623,225 (GRCm39) |
splice site |
probably null |
|
R8181:Sun2
|
UTSW |
15 |
79,609,721 (GRCm39) |
missense |
probably damaging |
0.99 |
R8343:Sun2
|
UTSW |
15 |
79,623,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R9068:Sun2
|
UTSW |
15 |
79,612,252 (GRCm39) |
missense |
probably benign |
0.01 |
R9117:Sun2
|
UTSW |
15 |
79,614,517 (GRCm39) |
missense |
probably benign |
0.09 |
R9186:Sun2
|
UTSW |
15 |
79,611,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R9365:Sun2
|
UTSW |
15 |
79,622,720 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Sun2
|
UTSW |
15 |
79,622,721 (GRCm39) |
missense |
probably null |
1.00 |
|
Posted On |
2016-08-02 |