Incidental Mutation 'IGL02939:Sun1'
ID |
365961 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sun1
|
Ensembl Gene |
ENSMUSG00000036817 |
Gene Name |
Sad1 and UNC84 domain containing 1 |
Synonyms |
4632417G13Rik, 5730434D03Rik, Unc84a |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02939
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
139186392-139235595 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 139221243 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058716]
[ENSMUST00000078690]
[ENSMUST00000110882]
[ENSMUST00000110883]
[ENSMUST00000110884]
|
AlphaFold |
Q9D666 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058716
|
SMART Domains |
Protein: ENSMUSP00000056655 Gene: ENSMUSG00000036817
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
low complexity region
|
152 |
162 |
N/A |
INTRINSIC |
ZnF_C2H2
|
183 |
205 |
5.2e0 |
SMART |
SCOP:d1qovm1
|
334 |
450 |
2e-3 |
SMART |
low complexity region
|
466 |
475 |
N/A |
INTRINSIC |
coiled coil region
|
492 |
527 |
N/A |
INTRINSIC |
SCOP:d1eq1a_
|
572 |
689 |
3e-3 |
SMART |
Pfam:Sad1_UNC
|
777 |
911 |
2.2e-48 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000078690
|
SMART Domains |
Protein: ENSMUSP00000077756 Gene: ENSMUSG00000036817
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
low complexity region
|
152 |
162 |
N/A |
INTRINSIC |
ZnF_C2H2
|
183 |
205 |
5.2e0 |
SMART |
SCOP:d1qovm1
|
270 |
386 |
2e-3 |
SMART |
low complexity region
|
402 |
411 |
N/A |
INTRINSIC |
coiled coil region
|
428 |
463 |
N/A |
INTRINSIC |
SCOP:d1eq1a_
|
508 |
625 |
2e-3 |
SMART |
Pfam:Sad1_UNC
|
713 |
847 |
1.9e-48 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110882
|
SMART Domains |
Protein: ENSMUSP00000106506 Gene: ENSMUSG00000036817
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
low complexity region
|
152 |
162 |
N/A |
INTRINSIC |
ZnF_C2H2
|
183 |
205 |
5.2e0 |
SMART |
low complexity region
|
263 |
271 |
N/A |
INTRINSIC |
low complexity region
|
310 |
319 |
N/A |
INTRINSIC |
coiled coil region
|
336 |
371 |
N/A |
INTRINSIC |
SCOP:d1eq1a_
|
416 |
533 |
4e-3 |
SMART |
Pfam:Sad1_UNC
|
621 |
755 |
7.1e-49 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110883
|
SMART Domains |
Protein: ENSMUSP00000106507 Gene: ENSMUSG00000036817
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
low complexity region
|
152 |
162 |
N/A |
INTRINSIC |
ZnF_C2H2
|
183 |
205 |
5.2e0 |
SMART |
SCOP:d1qovm1
|
233 |
327 |
4e-3 |
SMART |
low complexity region
|
343 |
352 |
N/A |
INTRINSIC |
coiled coil region
|
369 |
404 |
N/A |
INTRINSIC |
SCOP:d1eq1a_
|
449 |
566 |
3e-3 |
SMART |
Pfam:Sad1_UNC
|
654 |
788 |
1.7e-48 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110884
|
SMART Domains |
Protein: ENSMUSP00000106508 Gene: ENSMUSG00000036817
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
low complexity region
|
152 |
162 |
N/A |
INTRINSIC |
ZnF_C2H2
|
183 |
205 |
5.2e0 |
SMART |
Pfam:MRP
|
274 |
381 |
1.8e-8 |
PFAM |
low complexity region
|
382 |
390 |
N/A |
INTRINSIC |
low complexity region
|
429 |
438 |
N/A |
INTRINSIC |
coiled coil region
|
455 |
490 |
N/A |
INTRINSIC |
SCOP:d1eq1a_
|
535 |
652 |
4e-3 |
SMART |
Pfam:Sad1_UNC
|
740 |
874 |
2e-48 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126108
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135926
|
SMART Domains |
Protein: ENSMUSP00000114488 Gene: ENSMUSG00000036817
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
11 |
33 |
5.2e0 |
SMART |
transmembrane domain
|
59 |
81 |
N/A |
INTRINSIC |
transmembrane domain
|
120 |
142 |
N/A |
INTRINSIC |
transmembrane domain
|
149 |
171 |
N/A |
INTRINSIC |
low complexity region
|
202 |
211 |
N/A |
INTRINSIC |
coiled coil region
|
227 |
255 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153469
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128817
|
SMART Domains |
Protein: ENSMUSP00000119587 Gene: ENSMUSG00000036817
Domain | Start | End | E-Value | Type |
coiled coil region
|
58 |
126 |
N/A |
INTRINSIC |
PDB:4DXS|A
|
207 |
258 |
1e-13 |
PDB |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the unc-84 homolog family and encodes a nuclear nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2010] PHENOTYPE: Mice homozygous for a null allele exhibit sterility due to arrested meiosis, hearing loss associated with outer hair cell degeneration, abnormal cerebellum development, ataxia, impaired motor coordination, and abnormal Purkinje cell migration. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp6ap1 |
A |
G |
X: 73,340,924 (GRCm39) |
D47G |
probably benign |
Het |
Atr |
T |
C |
9: 95,747,314 (GRCm39) |
F199L |
probably benign |
Het |
Bivm |
C |
A |
1: 44,182,120 (GRCm39) |
H443N |
probably benign |
Het |
Btnl2 |
A |
T |
17: 34,580,043 (GRCm39) |
H192L |
probably benign |
Het |
Ccdc178 |
A |
T |
18: 22,253,775 (GRCm39) |
C155S |
probably benign |
Het |
Celsr1 |
C |
A |
15: 85,785,673 (GRCm39) |
V2934L |
probably benign |
Het |
Celsr3 |
T |
C |
9: 108,726,652 (GRCm39) |
S3294P |
probably damaging |
Het |
Ddx10 |
T |
A |
9: 53,115,579 (GRCm39) |
E585V |
possibly damaging |
Het |
Elapor2 |
T |
C |
5: 9,511,478 (GRCm39) |
Y947H |
probably damaging |
Het |
Eps15l1 |
A |
T |
8: 73,138,606 (GRCm39) |
|
probably benign |
Het |
Erlin1 |
G |
T |
19: 44,051,491 (GRCm39) |
T70K |
probably damaging |
Het |
Ext2 |
A |
T |
2: 93,534,964 (GRCm39) |
|
probably null |
Het |
Fam124a |
G |
A |
14: 62,793,368 (GRCm39) |
|
probably null |
Het |
Fam53a |
T |
C |
5: 33,765,103 (GRCm39) |
D201G |
probably damaging |
Het |
Fgf14 |
C |
T |
14: 124,369,891 (GRCm39) |
G136D |
possibly damaging |
Het |
Gdi2 |
A |
T |
13: 3,614,623 (GRCm39) |
T323S |
probably benign |
Het |
Gemin5 |
A |
T |
11: 58,047,556 (GRCm39) |
N339K |
probably damaging |
Het |
Golga4 |
A |
G |
9: 118,364,522 (GRCm39) |
E286G |
probably benign |
Het |
Golga4 |
A |
C |
9: 118,363,700 (GRCm39) |
K233T |
probably damaging |
Het |
Gosr1 |
A |
G |
11: 76,641,732 (GRCm39) |
|
probably benign |
Het |
Haus8 |
A |
G |
8: 71,708,361 (GRCm39) |
|
probably benign |
Het |
Itgb3bp |
T |
C |
4: 99,690,373 (GRCm39) |
T49A |
probably null |
Het |
Ldlrad4 |
A |
G |
18: 68,387,585 (GRCm39) |
D299G |
probably damaging |
Het |
Lpo |
A |
G |
11: 87,706,004 (GRCm39) |
M273T |
possibly damaging |
Het |
Map3k4 |
T |
A |
17: 12,491,036 (GRCm39) |
S132C |
probably damaging |
Het |
Mycbp2 |
T |
G |
14: 103,414,715 (GRCm39) |
T2566P |
probably benign |
Het |
Nalcn |
T |
C |
14: 123,536,284 (GRCm39) |
E1255G |
probably null |
Het |
Nop56 |
A |
T |
2: 130,120,117 (GRCm39) |
K157N |
probably damaging |
Het |
Or10g9 |
C |
T |
9: 39,912,194 (GRCm39) |
E110K |
probably benign |
Het |
Or6c1 |
A |
T |
10: 129,517,857 (GRCm39) |
Y250* |
probably null |
Het |
Pcdh15 |
A |
G |
10: 74,340,648 (GRCm39) |
|
probably benign |
Het |
Pi4ka |
T |
C |
16: 17,172,074 (GRCm39) |
H557R |
probably damaging |
Het |
Plekha4 |
C |
T |
7: 45,181,787 (GRCm39) |
Q64* |
probably null |
Het |
Ppp2r3c |
G |
A |
12: 55,345,192 (GRCm39) |
|
probably benign |
Het |
Rgmb |
C |
T |
17: 16,027,755 (GRCm39) |
M321I |
probably benign |
Het |
Rnf31 |
T |
C |
14: 55,833,131 (GRCm39) |
S363P |
probably benign |
Het |
Sap18b |
T |
A |
8: 96,552,329 (GRCm39) |
M113K |
probably benign |
Het |
Scara3 |
T |
A |
14: 66,169,105 (GRCm39) |
M171L |
probably benign |
Het |
Slc9a2 |
T |
G |
1: 40,781,863 (GRCm39) |
M364R |
probably damaging |
Het |
Sorcs1 |
C |
T |
19: 50,666,368 (GRCm39) |
W180* |
probably null |
Het |
Stat6 |
T |
A |
10: 127,482,809 (GRCm39) |
M10K |
probably benign |
Het |
Tead2 |
T |
C |
7: 44,869,858 (GRCm39) |
|
probably benign |
Het |
Tjp1 |
T |
G |
7: 64,964,638 (GRCm39) |
E844D |
probably damaging |
Het |
Tmtc2 |
A |
G |
10: 105,206,411 (GRCm39) |
S295P |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,612,756 (GRCm39) |
R17108C |
probably damaging |
Het |
Ubr1 |
T |
C |
2: 120,711,664 (GRCm39) |
|
probably null |
Het |
Vmn2r108 |
T |
A |
17: 20,691,545 (GRCm39) |
H326L |
probably benign |
Het |
Xdh |
A |
G |
17: 74,250,840 (GRCm39) |
|
probably null |
Het |
Zfp385b |
A |
G |
2: 77,242,403 (GRCm39) |
S439P |
probably benign |
Het |
Zfp597 |
G |
A |
16: 3,683,805 (GRCm39) |
S317L |
probably benign |
Het |
Zfp638 |
A |
G |
6: 83,946,214 (GRCm39) |
D1081G |
probably damaging |
Het |
Zfp93 |
C |
T |
7: 23,974,509 (GRCm39) |
H165Y |
possibly damaging |
Het |
|
Other mutations in Sun1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00465:Sun1
|
APN |
5 |
139,220,440 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL01364:Sun1
|
APN |
5 |
139,220,496 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02142:Sun1
|
APN |
5 |
139,216,918 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02251:Sun1
|
APN |
5 |
139,227,186 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03253:Sun1
|
APN |
5 |
139,209,341 (GRCm39) |
splice site |
probably benign |
|
IGL03370:Sun1
|
APN |
5 |
139,216,886 (GRCm39) |
missense |
probably damaging |
0.96 |
PIT4418001:Sun1
|
UTSW |
5 |
139,212,343 (GRCm39) |
missense |
probably damaging |
0.97 |
R0124:Sun1
|
UTSW |
5 |
139,232,434 (GRCm39) |
unclassified |
probably benign |
|
R0145:Sun1
|
UTSW |
5 |
139,227,166 (GRCm39) |
missense |
probably damaging |
0.98 |
R0376:Sun1
|
UTSW |
5 |
139,212,454 (GRCm39) |
unclassified |
probably benign |
|
R0512:Sun1
|
UTSW |
5 |
139,220,602 (GRCm39) |
splice site |
probably benign |
|
R0729:Sun1
|
UTSW |
5 |
139,223,619 (GRCm39) |
unclassified |
probably benign |
|
R0733:Sun1
|
UTSW |
5 |
139,216,918 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1188:Sun1
|
UTSW |
5 |
139,224,611 (GRCm39) |
missense |
probably damaging |
0.98 |
R1724:Sun1
|
UTSW |
5 |
139,221,480 (GRCm39) |
missense |
probably benign |
|
R1733:Sun1
|
UTSW |
5 |
139,216,544 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1913:Sun1
|
UTSW |
5 |
139,221,487 (GRCm39) |
critical splice donor site |
probably null |
|
R2033:Sun1
|
UTSW |
5 |
139,211,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R2200:Sun1
|
UTSW |
5 |
139,216,974 (GRCm39) |
missense |
probably benign |
0.11 |
R3084:Sun1
|
UTSW |
5 |
139,221,356 (GRCm39) |
missense |
probably benign |
0.41 |
R3085:Sun1
|
UTSW |
5 |
139,221,356 (GRCm39) |
missense |
probably benign |
0.41 |
R3771:Sun1
|
UTSW |
5 |
139,224,575 (GRCm39) |
unclassified |
probably benign |
|
R3772:Sun1
|
UTSW |
5 |
139,224,575 (GRCm39) |
unclassified |
probably benign |
|
R3804:Sun1
|
UTSW |
5 |
139,211,117 (GRCm39) |
nonsense |
probably null |
|
R4300:Sun1
|
UTSW |
5 |
139,213,349 (GRCm39) |
unclassified |
probably benign |
|
R4428:Sun1
|
UTSW |
5 |
139,220,230 (GRCm39) |
intron |
probably benign |
|
R4993:Sun1
|
UTSW |
5 |
139,211,088 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5075:Sun1
|
UTSW |
5 |
139,212,646 (GRCm39) |
splice site |
probably null |
|
R5363:Sun1
|
UTSW |
5 |
139,220,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R5826:Sun1
|
UTSW |
5 |
139,231,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R6753:Sun1
|
UTSW |
5 |
139,201,014 (GRCm39) |
splice site |
probably null |
|
R7218:Sun1
|
UTSW |
5 |
139,212,442 (GRCm39) |
missense |
unknown |
|
R7320:Sun1
|
UTSW |
5 |
139,234,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R7448:Sun1
|
UTSW |
5 |
139,232,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R7494:Sun1
|
UTSW |
5 |
139,221,475 (GRCm39) |
missense |
probably benign |
|
R8398:Sun1
|
UTSW |
5 |
139,222,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R8756:Sun1
|
UTSW |
5 |
139,222,444 (GRCm39) |
missense |
probably damaging |
0.99 |
R8772:Sun1
|
UTSW |
5 |
139,209,447 (GRCm39) |
missense |
probably benign |
0.00 |
R8804:Sun1
|
UTSW |
5 |
139,216,920 (GRCm39) |
missense |
probably benign |
0.05 |
R8924:Sun1
|
UTSW |
5 |
139,209,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R9124:Sun1
|
UTSW |
5 |
139,231,121 (GRCm39) |
nonsense |
probably null |
|
R9169:Sun1
|
UTSW |
5 |
139,219,273 (GRCm39) |
missense |
probably benign |
0.33 |
R9262:Sun1
|
UTSW |
5 |
139,200,918 (GRCm39) |
missense |
unknown |
|
R9558:Sun1
|
UTSW |
5 |
139,211,019 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-12-18 |