Incidental Mutation 'R0376:Sun1'
ID |
30741 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sun1
|
Ensembl Gene |
ENSMUSG00000036817 |
Gene Name |
Sad1 and UNC84 domain containing 1 |
Synonyms |
4632417G13Rik, 5730434D03Rik, Unc84a |
MMRRC Submission |
038582-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0376 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
139186392-139235595 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 139212454 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114869
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058716]
[ENSMUST00000058716]
[ENSMUST00000078690]
[ENSMUST00000078690]
[ENSMUST00000100517]
[ENSMUST00000100517]
[ENSMUST00000110882]
[ENSMUST00000110882]
[ENSMUST00000110883]
[ENSMUST00000110883]
[ENSMUST00000110884]
[ENSMUST00000110884]
[ENSMUST00000135720]
[ENSMUST00000129079]
[ENSMUST00000143562]
[ENSMUST00000127045]
[ENSMUST00000148772]
[ENSMUST00000146715]
|
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: 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: 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: ENSMUST00000100517
|
SMART Domains |
Protein: ENSMUSP00000098086 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100517
|
SMART Domains |
Protein: ENSMUSP00000098086 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 |
|
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: 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: 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 |
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 |
unknown
Transcript: ENSMUST00000135720
AA Change: T74A
|
SMART Domains |
Protein: ENSMUSP00000122785 Gene: ENSMUSG00000036817 AA Change: T74A
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
33 |
N/A |
INTRINSIC |
ZnF_C2H2
|
98 |
120 |
5.2e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142473
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153469
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143562
|
SMART Domains |
Protein: ENSMUSP00000116364 Gene: ENSMUSG00000036817
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
Pfam:MRP
|
62 |
158 |
7e-34 |
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 |
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: ENSMUST00000146715
|
SMART Domains |
Protein: ENSMUSP00000117679 Gene: ENSMUSG00000036817
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
Pfam:MRP
|
62 |
160 |
4.8e-34 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.0%
|
Validation Efficiency |
100% (58/58) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6a |
T |
C |
12: 113,508,310 (GRCm39) |
Y228H |
probably damaging |
Het |
Als2 |
A |
G |
1: 59,254,724 (GRCm39) |
F211S |
probably benign |
Het |
Ankrd12 |
T |
A |
17: 66,360,004 (GRCm39) |
Q11L |
probably damaging |
Het |
Anxa5 |
T |
C |
3: 36,514,637 (GRCm39) |
R115G |
probably damaging |
Het |
Arhgap10 |
T |
C |
8: 78,177,453 (GRCm39) |
|
probably benign |
Het |
Atp2a3 |
T |
A |
11: 72,873,528 (GRCm39) |
D782E |
probably damaging |
Het |
Bcr |
G |
T |
10: 74,981,159 (GRCm39) |
L659F |
probably damaging |
Het |
Cacna1b |
A |
G |
2: 24,549,015 (GRCm39) |
|
probably benign |
Het |
Camp |
C |
T |
9: 109,677,467 (GRCm39) |
C122Y |
probably damaging |
Het |
Cimip1 |
G |
A |
2: 173,370,120 (GRCm39) |
E132K |
probably benign |
Het |
Col12a1 |
A |
T |
9: 79,600,776 (GRCm39) |
S769R |
probably benign |
Het |
Cyp2j6 |
T |
A |
4: 96,414,260 (GRCm39) |
K335I |
probably damaging |
Het |
Cyp3a11 |
A |
C |
5: 145,799,262 (GRCm39) |
Y308* |
probably null |
Het |
Flnb |
G |
A |
14: 7,946,014 (GRCm38) |
|
probably null |
Het |
Frmd4a |
G |
T |
2: 4,577,198 (GRCm39) |
M351I |
probably damaging |
Het |
Gabrg2 |
C |
T |
11: 41,807,142 (GRCm39) |
S365N |
possibly damaging |
Het |
Ggn |
T |
C |
7: 28,872,447 (GRCm39) |
V609A |
possibly damaging |
Het |
H60c |
T |
C |
10: 3,210,435 (GRCm39) |
|
probably benign |
Het |
Hexd |
T |
A |
11: 121,108,991 (GRCm39) |
|
probably benign |
Het |
Igsf9b |
A |
G |
9: 27,245,878 (GRCm39) |
T1282A |
probably benign |
Het |
Ikzf4 |
T |
C |
10: 128,468,625 (GRCm39) |
N618S |
probably benign |
Het |
Ints14 |
A |
G |
9: 64,891,272 (GRCm39) |
K418E |
probably damaging |
Het |
Iqgap1 |
T |
C |
7: 80,373,627 (GRCm39) |
E1454G |
probably benign |
Het |
Kif13b |
T |
C |
14: 64,994,853 (GRCm39) |
|
probably benign |
Het |
Krt71 |
A |
C |
15: 101,646,505 (GRCm39) |
F328C |
probably damaging |
Het |
Lama2 |
T |
C |
10: 26,891,542 (GRCm39) |
T2524A |
possibly damaging |
Het |
Mfn2 |
C |
T |
4: 147,969,983 (GRCm39) |
V363I |
probably benign |
Het |
Mkln1 |
A |
T |
6: 31,454,953 (GRCm39) |
D496V |
probably benign |
Het |
Or2q1 |
A |
T |
6: 42,795,226 (GRCm39) |
M274L |
probably benign |
Het |
Patj |
T |
A |
4: 98,457,224 (GRCm39) |
I1242N |
probably damaging |
Het |
Pcnx1 |
C |
T |
12: 82,021,353 (GRCm39) |
|
probably benign |
Het |
Plcb2 |
T |
C |
2: 118,547,721 (GRCm39) |
E502G |
probably damaging |
Het |
Plppr4 |
G |
T |
3: 117,116,740 (GRCm39) |
H314Q |
probably benign |
Het |
Prkcsh |
A |
G |
9: 21,921,547 (GRCm39) |
|
probably benign |
Het |
Prr14 |
C |
T |
7: 127,075,815 (GRCm39) |
H181Y |
probably benign |
Het |
Pus3 |
A |
T |
9: 35,477,718 (GRCm39) |
M317L |
possibly damaging |
Het |
Pwwp2a |
T |
A |
11: 43,595,499 (GRCm39) |
D221E |
probably benign |
Het |
Rbm15 |
T |
C |
3: 107,238,254 (GRCm39) |
S715G |
probably benign |
Het |
Rbm28 |
A |
G |
6: 29,158,927 (GRCm39) |
|
probably benign |
Het |
Rhobtb2 |
A |
T |
14: 70,034,184 (GRCm39) |
V347E |
probably benign |
Het |
Rimbp2 |
C |
T |
5: 128,880,925 (GRCm39) |
R161Q |
probably damaging |
Het |
Scgb1b27 |
C |
T |
7: 33,721,322 (GRCm39) |
T70I |
possibly damaging |
Het |
Slc40a1 |
T |
C |
1: 45,951,651 (GRCm39) |
|
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Spaca9 |
A |
G |
2: 28,583,672 (GRCm39) |
V104A |
probably benign |
Het |
Spag7 |
T |
C |
11: 70,560,016 (GRCm39) |
|
probably benign |
Het |
Sugp1 |
A |
G |
8: 70,505,288 (GRCm39) |
D85G |
probably damaging |
Het |
Tcp11l1 |
C |
A |
2: 104,527,850 (GRCm39) |
|
probably benign |
Het |
Tead3 |
A |
C |
17: 28,560,339 (GRCm39) |
D88E |
probably damaging |
Het |
Tecpr1 |
A |
T |
5: 144,144,294 (GRCm39) |
V636E |
possibly damaging |
Het |
Tldc2 |
T |
C |
2: 156,937,225 (GRCm39) |
W147R |
probably damaging |
Het |
Tmem161b |
A |
G |
13: 84,440,502 (GRCm39) |
T125A |
probably benign |
Het |
Trrap |
A |
G |
5: 144,753,149 (GRCm39) |
M1825V |
probably benign |
Het |
Ttbk2 |
A |
G |
2: 120,608,062 (GRCm39) |
F186L |
probably damaging |
Het |
U2surp |
C |
T |
9: 95,366,496 (GRCm39) |
V470I |
probably benign |
Het |
Zc3h7a |
T |
C |
16: 10,974,066 (GRCm39) |
M240V |
probably benign |
Het |
Zc3hc1 |
G |
C |
6: 30,372,789 (GRCm39) |
S351W |
probably damaging |
Het |
Zfp366 |
T |
C |
13: 99,370,759 (GRCm39) |
M493T |
probably benign |
Het |
Zfp93 |
C |
T |
7: 23,975,286 (GRCm39) |
P424S |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGTACCGAGCATCTTGGAAATAGACC -3'
(R):5'- ACTCTGTAAGGCAAACAGTGCAAGAC -3'
Sequencing Primer
(F):5'- TGCCACAGCATAGCACTGG -3'
(R):5'- tggcacataggaggtaaacac -3'
|
Posted On |
2013-04-24 |