Incidental Mutation 'R2033:Sun1'
ID |
221474 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sun1
|
Ensembl Gene |
ENSMUSG00000036817 |
Gene Name |
Sad1 and UNC84 domain containing 1 |
Synonyms |
4632417G13Rik, 5730434D03Rik, Unc84a |
MMRRC Submission |
040040-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2033 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
139186392-139235595 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 139211193 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 149
(H149Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117679
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058716]
[ENSMUST00000078690]
[ENSMUST00000100517]
[ENSMUST00000110882]
[ENSMUST00000110883]
[ENSMUST00000110884]
[ENSMUST00000127045]
[ENSMUST00000135720]
[ENSMUST00000143562]
[ENSMUST00000146715]
[ENSMUST00000148772]
[ENSMUST00000129079]
|
AlphaFold |
Q9D666 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058716
AA Change: H149Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000056655 Gene: ENSMUSG00000036817 AA Change: H149Y
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 damaging
Transcript: ENSMUST00000078690
AA Change: H149Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077756 Gene: ENSMUSG00000036817 AA Change: H149Y
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 |
possibly damaging
Transcript: ENSMUST00000100517
AA Change: H149Y
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000098086 Gene: ENSMUSG00000036817 AA Change: H149Y
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110882
AA Change: H149Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106506 Gene: ENSMUSG00000036817 AA Change: H149Y
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 damaging
Transcript: ENSMUST00000110883
AA Change: H149Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106507 Gene: ENSMUSG00000036817 AA Change: H149Y
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 damaging
Transcript: ENSMUST00000110884
AA Change: H149Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106508 Gene: ENSMUSG00000036817 AA Change: H149Y
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 |
probably benign
Transcript: ENSMUST00000127045
|
SMART Domains |
Protein: ENSMUSP00000123211 Gene: ENSMUSG00000036817
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135720
AA Change: H55Y
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000122785 Gene: ENSMUSG00000036817 AA Change: H55Y
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
33 |
N/A |
INTRINSIC |
ZnF_C2H2
|
98 |
120 |
5.2e0 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000143562
AA Change: H149Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116364 Gene: ENSMUSG00000036817 AA Change: H149Y
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
Pfam:MRP
|
62 |
158 |
7e-34 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000146715
AA Change: H149Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117679 Gene: ENSMUSG00000036817 AA Change: H149Y
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
Pfam:MRP
|
62 |
160 |
4.8e-34 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142473
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153469
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148772
|
SMART Domains |
Protein: ENSMUSP00000114869 Gene: ENSMUSG00000036817
Domain | Start | End | E-Value | Type |
low complexity region
|
64 |
76 |
N/A |
INTRINSIC |
Pfam:MRP
|
103 |
176 |
1.9e-24 |
PFAM |
|
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 |
probably benign
Transcript: ENSMUST00000129079
|
SMART Domains |
Protein: ENSMUSP00000119582 Gene: ENSMUSG00000036817
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
44 |
N/A |
INTRINSIC |
Pfam:MRP
|
71 |
131 |
8.6e-19 |
PFAM |
|
Meta Mutation Damage Score |
0.5233 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
96% (53/55) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl3 |
T |
C |
4: 144,182,953 (GRCm39) |
T172A |
probably benign |
Het |
Atp6v1c1 |
T |
C |
15: 38,674,210 (GRCm39) |
|
probably null |
Het |
Bpifc |
G |
A |
10: 85,836,496 (GRCm39) |
T3I |
possibly damaging |
Het |
Car12 |
A |
G |
9: 66,624,840 (GRCm39) |
|
probably null |
Het |
Ccrl2 |
A |
G |
9: 110,884,938 (GRCm39) |
F187L |
possibly damaging |
Het |
Cep250 |
G |
A |
2: 155,812,812 (GRCm39) |
R544H |
probably damaging |
Het |
Col4a3 |
T |
G |
1: 82,695,732 (GRCm39) |
|
probably benign |
Het |
Cyb5r2 |
T |
C |
7: 107,356,114 (GRCm39) |
|
probably null |
Het |
Elfn2 |
A |
G |
15: 78,556,096 (GRCm39) |
V817A |
probably damaging |
Het |
Eln |
C |
T |
5: 134,738,960 (GRCm39) |
|
probably null |
Het |
Eml5 |
T |
C |
12: 98,757,645 (GRCm39) |
E1896G |
possibly damaging |
Het |
G530012D18Rik |
CACAGA |
CA |
1: 85,504,875 (GRCm39) |
|
probably null |
Het |
Galnt11 |
C |
T |
5: 25,452,536 (GRCm39) |
T16I |
probably damaging |
Het |
Gars1 |
C |
T |
6: 55,054,708 (GRCm39) |
H672Y |
probably benign |
Het |
Gpr155 |
T |
A |
2: 73,178,526 (GRCm39) |
H726L |
probably benign |
Het |
Inpp1 |
T |
A |
1: 52,829,332 (GRCm39) |
N229I |
possibly damaging |
Het |
Isg20 |
A |
C |
7: 78,566,281 (GRCm39) |
I77L |
probably damaging |
Het |
Kit |
G |
C |
5: 75,797,977 (GRCm39) |
D422H |
possibly damaging |
Het |
Lonp2 |
A |
G |
8: 87,435,570 (GRCm39) |
E602G |
possibly damaging |
Het |
Mink1 |
T |
C |
11: 70,503,334 (GRCm39) |
V1143A |
probably damaging |
Het |
Myh6 |
A |
C |
14: 55,201,102 (GRCm39) |
L120R |
probably benign |
Het |
Myo18a |
T |
A |
11: 77,733,925 (GRCm39) |
|
probably null |
Het |
Nphs2 |
T |
C |
1: 156,151,308 (GRCm39) |
V249A |
probably damaging |
Het |
Npsr1 |
A |
G |
9: 24,224,648 (GRCm39) |
K342E |
probably benign |
Het |
Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
Nudt18 |
G |
T |
14: 70,817,056 (GRCm39) |
G162V |
possibly damaging |
Het |
Odam |
A |
G |
5: 88,040,278 (GRCm39) |
D248G |
probably benign |
Het |
Or1e30 |
T |
C |
11: 73,678,264 (GRCm39) |
S167P |
probably benign |
Het |
Or4c119 |
A |
G |
2: 88,987,498 (GRCm39) |
V7A |
probably damaging |
Het |
Or51d1 |
A |
G |
7: 102,348,369 (GRCm39) |
E308G |
probably benign |
Het |
Or51h5 |
T |
C |
7: 102,577,615 (GRCm39) |
V260A |
probably benign |
Het |
Or8b3 |
G |
T |
9: 38,314,669 (GRCm39) |
M166I |
probably damaging |
Het |
Pde4b |
G |
T |
4: 102,462,492 (GRCm39) |
D723Y |
probably benign |
Het |
Pdzrn3 |
T |
C |
6: 101,127,915 (GRCm39) |
E917G |
probably damaging |
Het |
Ppip5k1 |
C |
T |
2: 121,168,108 (GRCm39) |
R715H |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,505,216 (GRCm39) |
|
probably benign |
Het |
Ptp4a3 |
A |
G |
15: 73,625,618 (GRCm39) |
Y21C |
probably damaging |
Het |
Ptprk |
C |
A |
10: 28,468,763 (GRCm39) |
|
probably benign |
Het |
Rfesd |
C |
A |
13: 76,150,991 (GRCm39) |
|
probably null |
Het |
Rtel1 |
A |
T |
2: 180,993,656 (GRCm39) |
K592* |
probably null |
Het |
Siah1a |
T |
A |
8: 87,451,898 (GRCm39) |
K195N |
probably damaging |
Het |
Slc5a5 |
G |
T |
8: 71,341,231 (GRCm39) |
D369E |
probably damaging |
Het |
Slc6a6 |
A |
T |
6: 91,701,891 (GRCm39) |
I100F |
probably benign |
Het |
Smtn |
T |
C |
11: 3,467,781 (GRCm39) |
I913V |
probably benign |
Het |
Stk17b |
A |
G |
1: 53,800,235 (GRCm39) |
S248P |
probably damaging |
Het |
Taar5 |
T |
C |
10: 23,846,992 (GRCm39) |
I130T |
possibly damaging |
Het |
Tmem132b |
G |
T |
5: 125,826,353 (GRCm39) |
V448F |
probably damaging |
Het |
Tmem94 |
C |
A |
11: 115,685,154 (GRCm39) |
N888K |
possibly damaging |
Het |
Trpc1 |
T |
C |
9: 95,588,896 (GRCm39) |
N742S |
probably damaging |
Het |
Ttbk2 |
T |
C |
2: 120,637,330 (GRCm39) |
T112A |
probably damaging |
Het |
Tubb2a |
A |
T |
13: 34,259,439 (GRCm39) |
L117Q |
probably damaging |
Het |
Vmn1r60 |
T |
A |
7: 5,547,819 (GRCm39) |
M94L |
probably benign |
Het |
Vmn2r83 |
A |
G |
10: 79,327,653 (GRCm39) |
T754A |
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 |
|
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 |
|
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'- CTTTGTAGGACAGTCAAACAGAG -3'
(R):5'- GAATGGCTGTAAGACTGCTGC -3'
Sequencing Primer
(F):5'- CAGTCAAACAGAGAAGAAGTGC -3'
(R):5'- AATCAGCCATGTTTCAGAGAGC -3'
|
Posted On |
2014-08-25 |