Incidental Mutation 'R6975:Sun2'
| ID |
542435 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sun2
|
| Ensembl Gene |
ENSMUSG00000042524 |
| Gene Name |
Sad1 and UNC84 domain containing 2 |
| Synonyms |
B230369L08Rik, Unc84b |
| MMRRC Submission |
045085-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6975 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
79608271-79626737 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 79618420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 246
(Y246*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098006
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046259]
[ENSMUST00000089311]
[ENSMUST00000100439]
[ENSMUST00000159660]
|
| AlphaFold |
Q8BJS4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000046259
AA Change: Y248*
|
| SMART Domains |
Protein: ENSMUSP00000047864
Gene: ENSMUSG00000042524
AA Change: Y248*
| 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 null
Transcript: ENSMUST00000089311
AA Change: Y216*
|
| SMART Domains |
Protein: ENSMUSP00000086724
Gene: ENSMUSG00000042524
AA Change: Y216*
| 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 null
Transcript: ENSMUST00000100439
AA Change: Y246*
|
| SMART Domains |
Protein: ENSMUSP00000098006
Gene: ENSMUSG00000042524
AA Change: Y246*
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.9%
|
| Validation Efficiency |
100% (46/46) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
A |
9: 124,056,687 (GRCm39) |
H100L |
probably benign |
Het |
| Apaf1 |
A |
T |
10: 90,856,596 (GRCm39) |
H870Q |
probably damaging |
Het |
| Aplf |
T |
C |
6: 87,623,068 (GRCm39) |
D358G |
probably damaging |
Het |
| Atp10a |
A |
T |
7: 58,423,733 (GRCm39) |
S233C |
probably damaging |
Het |
| Ccdc158 |
A |
T |
5: 92,814,579 (GRCm39) |
Y82* |
probably null |
Het |
| Clba1 |
C |
T |
12: 112,773,217 (GRCm39) |
P70L |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,491,600 (GRCm39) |
D149G |
probably damaging |
Het |
| Cyp4f14 |
T |
C |
17: 33,133,608 (GRCm39) |
T83A |
probably benign |
Het |
| Endog |
A |
G |
2: 30,061,648 (GRCm39) |
|
probably benign |
Het |
| Extl3 |
T |
C |
14: 65,304,246 (GRCm39) |
E721G |
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gcn1 |
A |
G |
5: 115,751,518 (GRCm39) |
H2033R |
probably damaging |
Het |
| Gm12830 |
T |
C |
4: 114,702,246 (GRCm39) |
M136T |
|
Het |
| Gm6871 |
T |
C |
7: 41,196,202 (GRCm39) |
|
silent |
Het |
| Hoxc4 |
T |
C |
15: 102,944,098 (GRCm39) |
S159P |
probably damaging |
Het |
| Ift70a2 |
T |
C |
2: 75,806,752 (GRCm39) |
R587G |
probably damaging |
Het |
| Ift70a2 |
A |
T |
2: 75,808,004 (GRCm39) |
Y169* |
probably null |
Het |
| Igf2bp2 |
T |
A |
16: 21,880,611 (GRCm39) |
Q494L |
probably null |
Het |
| Igfn1 |
T |
A |
1: 135,896,183 (GRCm39) |
N1461I |
probably damaging |
Het |
| Il23r |
C |
A |
6: 67,400,352 (GRCm39) |
K659N |
probably damaging |
Het |
| Map3k11 |
A |
G |
19: 5,740,755 (GRCm39) |
S161G |
possibly damaging |
Het |
| Naip6 |
T |
A |
13: 100,452,773 (GRCm39) |
Q96L |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,642,057 (GRCm39) |
E802G |
probably damaging |
Het |
| Nutm1 |
G |
A |
2: 112,086,563 (GRCm39) |
S56F |
probably damaging |
Het |
| Or10x4 |
T |
A |
1: 174,219,243 (GRCm39) |
S203T |
probably benign |
Het |
| Or51a24 |
T |
C |
7: 103,734,002 (GRCm39) |
N95S |
probably benign |
Het |
| Otop2 |
A |
T |
11: 115,220,152 (GRCm39) |
S331C |
possibly damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,387,539 (GRCm39) |
R1818G |
possibly damaging |
Het |
| Pms1 |
A |
T |
1: 53,228,590 (GRCm39) |
I886N |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,588,068 (GRCm39) |
Y1107C |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,611,062 (GRCm39) |
T362A |
probably damaging |
Het |
| Rarb |
A |
G |
14: 16,574,942 (GRCm38) |
S25P |
possibly damaging |
Het |
| Rnf121 |
A |
T |
7: 101,673,218 (GRCm39) |
|
probably null |
Het |
| Sae1 |
T |
C |
7: 16,070,712 (GRCm39) |
Y266C |
probably damaging |
Het |
| Scpep1 |
A |
T |
11: 88,838,031 (GRCm39) |
F85L |
probably damaging |
Het |
| Shank1 |
T |
A |
7: 43,962,530 (GRCm39) |
|
probably null |
Het |
| Slc40a1 |
T |
C |
1: 45,948,652 (GRCm39) |
K543E |
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 94,842,499 (GRCm39) |
Y350C |
probably damaging |
Het |
| Tas1r2 |
T |
A |
4: 139,397,031 (GRCm39) |
I790N |
probably damaging |
Het |
| Tmtc2 |
T |
C |
10: 105,158,863 (GRCm39) |
T577A |
probably benign |
Het |
| Trim24 |
T |
G |
6: 37,896,427 (GRCm39) |
|
probably null |
Het |
| Ttc12 |
A |
G |
9: 49,349,718 (GRCm39) |
V693A |
probably benign |
Het |
| Zbtb22 |
A |
C |
17: 34,136,938 (GRCm39) |
D361A |
probably damaging |
Het |
| Zfp276 |
T |
A |
8: 123,983,570 (GRCm39) |
C324* |
probably null |
Het |
| Zfp536 |
A |
G |
7: 37,267,952 (GRCm39) |
L488P |
probably damaging |
Het |
|
| Other mutations in Sun2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03325:Sun2
|
APN |
15 |
79,622,849 (GRCm39) |
missense |
probably benign |
0.34 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGACTTCTCCAACCTGCAAAG -3'
(R):5'- TCCACCCCTGAGAATCTGTAAC -3'
Sequencing Primer
(F):5'- ACCTGCAAAGCCAGGCTG -3'
(R):5'- CCCCTGAGAATCTGTAACTGGTAAAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation