Incidental Mutation 'IGL03370:Sun1'
| ID |
420264 |
| 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 # |
IGL03370
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
139186392-139235595 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 139216886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 308
(D308E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056655
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058716]
[ENSMUST00000078690]
[ENSMUST00000100517]
[ENSMUST00000110882]
[ENSMUST00000110883]
[ENSMUST00000110884]
[ENSMUST00000135720]
[ENSMUST00000143562]
[ENSMUST00000146715]
|
| AlphaFold |
Q9D666 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058716
AA Change: D308E
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000056655
Gene: ENSMUSG00000036817
AA Change: D308E
| 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 |
possibly damaging
Transcript: ENSMUST00000078690
AA Change: D244E
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000077756
Gene: ENSMUSG00000036817
AA Change: D244E
| 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: ENSMUST00000126108
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153469
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142473
|
| 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: 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: 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: 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 |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl7b |
A |
G |
4: 56,741,173 (GRCm39) |
Y62H |
probably damaging |
Het |
| Cfap52 |
A |
G |
11: 67,829,881 (GRCm39) |
I296T |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,351,937 (GRCm39) |
|
probably null |
Het |
| Daam2 |
G |
T |
17: 49,793,529 (GRCm39) |
D329E |
probably benign |
Het |
| Defb26 |
A |
G |
2: 152,349,902 (GRCm39) |
V126A |
probably benign |
Het |
| Fasn |
A |
T |
11: 120,703,621 (GRCm39) |
I1535N |
possibly damaging |
Het |
| Fbxw15 |
A |
T |
9: 109,384,219 (GRCm39) |
Y431N |
probably benign |
Het |
| Fbxw26 |
T |
G |
9: 109,575,087 (GRCm39) |
I13L |
probably damaging |
Het |
| Fggy |
A |
T |
4: 95,710,301 (GRCm39) |
H300L |
probably damaging |
Het |
| Fndc3c1 |
G |
A |
X: 105,464,307 (GRCm39) |
T1277I |
probably benign |
Het |
| Gigyf1 |
G |
T |
5: 137,523,952 (GRCm39) |
V1041L |
possibly damaging |
Het |
| Kif26b |
G |
A |
1: 178,742,946 (GRCm39) |
R567H |
probably benign |
Het |
| Kpna6 |
G |
A |
4: 129,549,314 (GRCm39) |
T156M |
probably damaging |
Het |
| Lrrc37a |
C |
T |
11: 103,388,499 (GRCm39) |
E2309K |
unknown |
Het |
| Lyn |
T |
C |
4: 3,780,931 (GRCm39) |
Y357H |
possibly damaging |
Het |
| Mki67 |
A |
G |
7: 135,297,219 (GRCm39) |
V2605A |
probably benign |
Het |
| Mtmr3 |
T |
C |
11: 4,437,385 (GRCm39) |
D1023G |
probably damaging |
Het |
| Muc5b |
G |
T |
7: 141,418,514 (GRCm39) |
R3820L |
probably benign |
Het |
| Mus81 |
A |
G |
19: 5,534,991 (GRCm39) |
|
probably benign |
Het |
| Nup188 |
A |
G |
2: 30,230,653 (GRCm39) |
Y1397C |
possibly damaging |
Het |
| Pgd |
A |
T |
4: 149,249,685 (GRCm39) |
V29D |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,071,371 (GRCm39) |
S244G |
probably benign |
Het |
| Rapgef5 |
C |
A |
12: 117,694,294 (GRCm39) |
T372K |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,520,306 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,586,944 (GRCm39) |
V2680E |
possibly damaging |
Het |
| Sgsm3 |
A |
C |
15: 80,895,855 (GRCm39) |
|
probably null |
Het |
| Slc38a1 |
C |
T |
15: 96,477,228 (GRCm39) |
V362I |
possibly damaging |
Het |
| Tns1 |
C |
T |
1: 74,025,053 (GRCm39) |
V387M |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,582,083 (GRCm39) |
G22937C |
probably damaging |
Het |
| Ubr1 |
C |
A |
2: 120,725,641 (GRCm39) |
A1258S |
probably benign |
Het |
| Vmn2r74 |
A |
G |
7: 85,607,265 (GRCm39) |
F153L |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation