Incidental Mutation 'R2200:Sun1'
ID |
238603 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sun1
|
Ensembl Gene |
ENSMUSG00000036817 |
Gene Name |
Sad1 and UNC84 domain containing 1 |
Synonyms |
4632417G13Rik, 5730434D03Rik, Unc84a |
MMRRC Submission |
040202-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2200 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
139186392-139235595 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 139216974 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 338
(R338S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056655
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058716]
[ENSMUST00000078690]
[ENSMUST00000100517]
[ENSMUST00000110882]
[ENSMUST00000110883]
[ENSMUST00000110884]
[ENSMUST00000143562]
[ENSMUST00000146715]
[ENSMUST00000135720]
|
AlphaFold |
Q9D666 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058716
AA Change: R338S
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000056655 Gene: ENSMUSG00000036817 AA Change: R338S
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
AA Change: R274S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000077756 Gene: ENSMUSG00000036817 AA Change: R274S
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: 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: ENSMUST00000142473
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153469
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126108
|
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: 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135720
|
SMART Domains |
Protein: ENSMUSP00000122785 Gene: ENSMUSG00000036817
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
33 |
N/A |
INTRINSIC |
ZnF_C2H2
|
98 |
120 |
5.2e0 |
SMART |
|
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: 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acer1 |
T |
C |
17: 57,265,423 (GRCm39) |
I135M |
probably benign |
Het |
Ano7 |
A |
G |
1: 93,308,158 (GRCm39) |
E63G |
possibly damaging |
Het |
Asah1 |
A |
G |
8: 41,796,765 (GRCm39) |
|
probably null |
Het |
B3gat2 |
C |
T |
1: 23,801,873 (GRCm39) |
P53L |
probably benign |
Het |
Bmp8b |
A |
T |
4: 123,016,815 (GRCm39) |
M339L |
possibly damaging |
Het |
Bpifb9b |
C |
A |
2: 154,155,574 (GRCm39) |
Q358K |
probably benign |
Het |
Cbs |
T |
C |
17: 31,843,238 (GRCm39) |
D231G |
probably damaging |
Het |
Chd6 |
A |
G |
2: 160,825,673 (GRCm39) |
Y1144H |
probably damaging |
Het |
Clca3a2 |
T |
A |
3: 144,519,685 (GRCm39) |
I230L |
probably benign |
Het |
Clec2d |
A |
T |
6: 129,161,831 (GRCm39) |
T155S |
possibly damaging |
Het |
Cpxm1 |
G |
T |
2: 130,235,117 (GRCm39) |
F567L |
probably damaging |
Het |
Cyp4f16 |
G |
T |
17: 32,756,078 (GRCm39) |
A36S |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 117,993,235 (GRCm39) |
|
probably benign |
Het |
Eml5 |
T |
C |
12: 98,791,676 (GRCm39) |
D1280G |
probably damaging |
Het |
Ergic1 |
C |
A |
17: 26,860,566 (GRCm39) |
A218D |
possibly damaging |
Het |
Eva1a |
A |
G |
6: 82,068,894 (GRCm39) |
R74G |
probably benign |
Het |
Fhip1a |
A |
G |
3: 85,637,628 (GRCm39) |
S224P |
probably damaging |
Het |
Fus |
T |
A |
7: 127,576,400 (GRCm39) |
N273K |
probably damaging |
Het |
Ipo13 |
A |
C |
4: 117,762,100 (GRCm39) |
|
probably null |
Het |
Itgb3 |
T |
A |
11: 104,531,812 (GRCm39) |
|
probably null |
Het |
Lrif1 |
T |
A |
3: 106,641,874 (GRCm39) |
S63R |
probably damaging |
Het |
Lrig3 |
A |
G |
10: 125,832,478 (GRCm39) |
|
probably null |
Het |
Lrp1b |
A |
T |
2: 41,174,177 (GRCm39) |
N1547K |
probably benign |
Het |
Mme |
A |
T |
3: 63,287,713 (GRCm39) |
N738I |
possibly damaging |
Het |
Morc2a |
A |
G |
11: 3,633,919 (GRCm39) |
N677S |
probably benign |
Het |
Mrpl35 |
A |
C |
6: 71,794,723 (GRCm39) |
L82V |
probably benign |
Het |
Mybpc1 |
A |
T |
10: 88,391,557 (GRCm39) |
N313K |
probably damaging |
Het |
Podn |
T |
C |
4: 107,879,787 (GRCm39) |
D66G |
probably damaging |
Het |
Ptpru |
A |
T |
4: 131,548,124 (GRCm39) |
N52K |
probably damaging |
Het |
Pyroxd1 |
G |
T |
6: 142,304,808 (GRCm39) |
R345L |
probably benign |
Het |
Qser1 |
A |
G |
2: 104,619,358 (GRCm39) |
S485P |
probably damaging |
Het |
Rbm46 |
A |
T |
3: 82,771,351 (GRCm39) |
D421E |
probably benign |
Het |
Rgs10 |
T |
C |
7: 127,990,761 (GRCm39) |
E109G |
probably damaging |
Het |
Samd8 |
C |
T |
14: 21,825,388 (GRCm39) |
P178S |
probably benign |
Het |
Scaf11 |
T |
C |
15: 96,318,404 (GRCm39) |
K387E |
probably damaging |
Het |
Sccpdh |
G |
T |
1: 179,498,171 (GRCm39) |
V72F |
possibly damaging |
Het |
Sec22a |
A |
T |
16: 35,134,527 (GRCm39) |
V285E |
probably damaging |
Het |
Slc19a3 |
A |
G |
1: 83,000,664 (GRCm39) |
S118P |
probably damaging |
Het |
Taf1c |
A |
G |
8: 120,325,417 (GRCm39) |
F815S |
probably benign |
Het |
Zcchc14 |
A |
T |
8: 122,332,167 (GRCm39) |
|
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 |
|
R2033:Sun1
|
UTSW |
5 |
139,211,193 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TCGAACCTTCTGTGCAGTATTC -3'
(R):5'- AACCACAGCTGCTGAGTTTTGG -3'
Sequencing Primer
(F):5'- AACCTTCTGTGCAGTATTCTGATTG -3'
(R):5'- CTTGAACTCAGGACCTCTGGAAG -3'
|
Posted On |
2014-10-02 |