Incidental Mutation 'R0729:Sun1'
| ID |
67375 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sun1
|
| Ensembl Gene |
ENSMUSG00000036817 |
| Gene Name |
Sad1 and UNC84 domain containing 1 |
| Synonyms |
4632417G13Rik, 5730434D03Rik, Unc84a |
| MMRRC Submission |
038910-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0729 (G1)
|
| Quality Score |
126 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
139186392-139235595 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 139223619 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: ENSMUST00000127310
|
| SMART Domains |
Protein: ENSMUSP00000114514
Gene: ENSMUSG00000036817
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
11 |
N/A |
INTRINSIC |
|
PDB:4DXS|A
|
38 |
73 |
3e-6 |
PDB |
|
| 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.0%
|
| Validation Efficiency |
97% (74/76) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
C |
A |
11: 72,050,281 (GRCm39) |
A828S |
probably benign |
Het |
| Acsm3 |
T |
C |
7: 119,383,207 (GRCm39) |
|
probably benign |
Het |
| Adamts12 |
G |
A |
15: 11,255,769 (GRCm39) |
R446H |
possibly damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,420,398 (GRCm39) |
N849S |
probably damaging |
Het |
| Ankra2 |
A |
G |
13: 98,408,235 (GRCm39) |
D228G |
probably damaging |
Het |
| Bicd1 |
T |
C |
6: 149,414,412 (GRCm39) |
V375A |
probably damaging |
Het |
| Blvrb |
A |
G |
7: 27,147,555 (GRCm39) |
K5E |
possibly damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,394,456 (GRCm39) |
N573D |
probably benign |
Het |
| Calhm2 |
C |
A |
19: 47,121,356 (GRCm39) |
G271V |
possibly damaging |
Het |
| Capn13 |
C |
T |
17: 73,629,064 (GRCm39) |
G581E |
probably damaging |
Het |
| Capzb |
T |
C |
4: 139,016,288 (GRCm39) |
|
probably benign |
Het |
| Casd1 |
T |
C |
6: 4,619,753 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
A |
G |
3: 144,634,111 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Crx |
A |
G |
7: 15,605,058 (GRCm39) |
|
probably benign |
Het |
| Cyp2c68 |
T |
C |
19: 39,727,994 (GRCm39) |
|
probably benign |
Het |
| Dcaf8 |
T |
A |
1: 172,000,221 (GRCm39) |
D126E |
probably benign |
Het |
| Ddx31 |
T |
C |
2: 28,764,186 (GRCm39) |
I464T |
probably damaging |
Het |
| Dhx32 |
G |
A |
7: 133,339,150 (GRCm39) |
T155I |
probably benign |
Het |
| Elac2 |
C |
A |
11: 64,889,349 (GRCm39) |
P567T |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 39,054,444 (GRCm39) |
|
probably benign |
Het |
| Fh1 |
T |
G |
1: 175,442,383 (GRCm39) |
N156H |
probably damaging |
Het |
| Gm10064 |
T |
C |
5: 122,835,584 (GRCm39) |
|
noncoding transcript |
Het |
| Gm14137 |
A |
G |
2: 119,005,834 (GRCm39) |
E131G |
probably benign |
Het |
| Gpr22 |
T |
A |
12: 31,759,312 (GRCm39) |
K233M |
probably damaging |
Het |
| Gpr63 |
A |
G |
4: 25,007,480 (GRCm39) |
N68S |
probably benign |
Het |
| Gypa |
C |
T |
8: 81,223,421 (GRCm39) |
P66S |
unknown |
Het |
| Htr2a |
A |
T |
14: 74,879,587 (GRCm39) |
Q72L |
probably benign |
Het |
| Klhdc7b |
C |
T |
15: 89,271,598 (GRCm39) |
R827* |
probably null |
Het |
| Leo1 |
G |
A |
9: 75,364,420 (GRCm39) |
R520Q |
possibly damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,765,757 (GRCm39) |
M429V |
probably benign |
Het |
| Lrrc74a |
C |
T |
12: 86,792,353 (GRCm39) |
Q225* |
probably null |
Het |
| Mamdc4 |
T |
A |
2: 25,460,048 (GRCm39) |
N68Y |
probably damaging |
Het |
| Map3k10 |
G |
A |
7: 27,360,992 (GRCm39) |
P507L |
probably damaging |
Het |
| Methig1 |
T |
A |
15: 100,272,870 (GRCm39) |
C68S |
probably benign |
Het |
| Metrn |
C |
T |
17: 26,015,202 (GRCm39) |
|
probably benign |
Het |
| Mmp12 |
C |
T |
9: 7,358,290 (GRCm39) |
T392I |
possibly damaging |
Het |
| Mss51 |
A |
T |
14: 20,533,160 (GRCm39) |
I437N |
probably damaging |
Het |
| Mtus2 |
A |
G |
5: 148,014,097 (GRCm39) |
T297A |
probably benign |
Het |
| Myo10 |
T |
C |
15: 25,722,243 (GRCm39) |
|
probably benign |
Het |
| Ncoa7 |
G |
A |
10: 30,567,575 (GRCm39) |
P319S |
probably benign |
Het |
| Nlrp4d |
A |
T |
7: 10,111,612 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
G |
11: 58,923,535 (GRCm39) |
S6455P |
probably damaging |
Het |
| Or5b97 |
T |
C |
19: 12,878,259 (GRCm39) |
N295S |
probably damaging |
Het |
| Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
| Pcdh12 |
A |
G |
18: 38,415,517 (GRCm39) |
I536T |
probably benign |
Het |
| Pex5l |
G |
T |
3: 33,008,685 (GRCm39) |
|
probably benign |
Het |
| Pla2g2e |
A |
C |
4: 138,608,046 (GRCm39) |
K43Q |
possibly damaging |
Het |
| Rasa4 |
T |
C |
5: 136,130,924 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
C |
T |
7: 97,328,234 (GRCm39) |
R1079W |
probably damaging |
Het |
| Sez6 |
A |
G |
11: 77,867,411 (GRCm39) |
T803A |
probably benign |
Het |
| Shcbp1 |
T |
A |
8: 4,786,297 (GRCm39) |
N602Y |
probably benign |
Het |
| Slc16a13 |
G |
A |
11: 70,109,857 (GRCm39) |
P215S |
probably damaging |
Het |
| Slc39a6 |
T |
C |
18: 24,734,527 (GRCm39) |
Q54R |
probably benign |
Het |
| Smg1 |
C |
A |
7: 117,745,512 (GRCm39) |
|
probably benign |
Het |
| Spg7 |
A |
G |
8: 123,797,156 (GRCm39) |
N110D |
probably damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,060,902 (GRCm39) |
S2010T |
probably damaging |
Het |
| Sytl5 |
A |
G |
X: 9,860,736 (GRCm39) |
E717G |
probably damaging |
Het |
| Tle1 |
A |
T |
4: 72,044,679 (GRCm39) |
|
probably benign |
Het |
| Tm9sf4 |
T |
A |
2: 153,033,065 (GRCm39) |
V290E |
probably damaging |
Het |
| Tmem63b |
A |
G |
17: 45,985,060 (GRCm39) |
S179P |
probably damaging |
Het |
| Trpm3 |
T |
A |
19: 22,965,153 (GRCm39) |
F1549L |
probably benign |
Het |
| Ubr4 |
A |
T |
4: 139,212,631 (GRCm39) |
Y5063F |
possibly damaging |
Het |
| Uroc1 |
T |
A |
6: 90,313,937 (GRCm39) |
Y75N |
probably damaging |
Het |
| Vmn2r70 |
T |
C |
7: 85,215,112 (GRCm39) |
T141A |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,868,931 (GRCm39) |
K3128E |
probably damaging |
Het |
| Wdr26 |
T |
C |
1: 181,013,470 (GRCm39) |
|
probably null |
Het |
| Wrn |
T |
A |
8: 33,738,946 (GRCm39) |
|
probably null |
Het |
| Zfp106 |
C |
T |
2: 120,385,729 (GRCm39) |
V13M |
probably damaging |
Het |
| Zfp456 |
G |
A |
13: 67,514,663 (GRCm39) |
H348Y |
probably damaging |
Het |
| Zfpm1 |
G |
A |
8: 123,063,398 (GRCm39) |
R819H |
probably benign |
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 |
|
IGL02939:Sun1
|
APN |
5 |
139,221,243 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTTGTGTGCTCACTGAACTGAAC -3'
(R):5'- TGGTAACTTCAGGTGGCAAGTGATG -3'
Sequencing Primer
(F):5'- CTGAGCAGGAAGAAATTTTGCCTC -3'
(R):5'- TGGCAAGTGATGATTTGAACCC -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation