Incidental Mutation 'R5363:Sun1'
| ID |
422925 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sun1
|
| Ensembl Gene |
ENSMUSG00000036817 |
| Gene Name |
Sad1 and UNC84 domain containing 1 |
| Synonyms |
4632417G13Rik, 5730434D03Rik, Unc84a |
| MMRRC Submission |
042941-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5363 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
139186392-139235595 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 139220498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 410
(N410D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058716]
[ENSMUST00000078690]
[ENSMUST00000110882]
[ENSMUST00000110883]
[ENSMUST00000110884]
[ENSMUST00000135720]
|
| AlphaFold |
Q9D666 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058716
AA Change: N447D
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000056655
Gene: ENSMUSG00000036817
AA Change: N447D
| 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: N383D
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000077756
Gene: ENSMUSG00000036817
AA Change: N383D
| 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: ENSMUST00000110882
AA Change: N291D
PolyPhen 2
Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106506
Gene: ENSMUSG00000036817
AA Change: N291D
| 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 |
possibly damaging
Transcript: ENSMUST00000110883
AA Change: N324D
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000106507
Gene: ENSMUSG00000036817
AA Change: N324D
| 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: N410D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106508
Gene: ENSMUSG00000036817
AA Change: N410D
| 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: 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 |
unknown
Transcript: ENSMUST00000135926
AA Change: N182D
|
| SMART Domains |
Protein: ENSMUSP00000114488
Gene: ENSMUSG00000036817
AA Change: N182D
| 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 |
noncoding transcript
Transcript: ENSMUST00000153469
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,132,963 (GRCm39) |
I40T |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,227,035 (GRCm39) |
V597A |
possibly damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,492,114 (GRCm39) |
|
probably null |
Het |
| Ap4e1 |
G |
A |
2: 126,879,784 (GRCm39) |
|
probably null |
Het |
| Apod |
T |
C |
16: 31,129,909 (GRCm39) |
T16A |
probably benign |
Het |
| Arrdc5 |
C |
T |
17: 56,607,138 (GRCm39) |
V36M |
probably damaging |
Het |
| Bcan |
A |
G |
3: 87,902,794 (GRCm39) |
V328A |
probably damaging |
Het |
| Bche |
A |
G |
3: 73,607,972 (GRCm39) |
Y485H |
probably damaging |
Het |
| Btbd6 |
A |
G |
12: 112,941,756 (GRCm39) |
Y356C |
probably damaging |
Het |
| Cdh4 |
A |
G |
2: 179,528,556 (GRCm39) |
T555A |
probably benign |
Het |
| Ciita |
C |
T |
16: 10,330,031 (GRCm39) |
H769Y |
probably damaging |
Het |
| Clspn |
A |
G |
4: 126,455,579 (GRCm39) |
D35G |
possibly damaging |
Het |
| Cpsf3 |
T |
A |
12: 21,358,986 (GRCm39) |
M562K |
probably benign |
Het |
| Cstdc1 |
G |
T |
2: 148,625,298 (GRCm39) |
L77F |
probably damaging |
Het |
| Cwc22 |
ATCTCTCTCTCTCTCTCT |
ATCTCTCTCTCTCTCT |
2: 77,759,803 (GRCm39) |
|
probably null |
Het |
| Cyp2a22 |
T |
A |
7: 26,635,858 (GRCm39) |
Q235L |
probably damaging |
Het |
| Dicer1 |
A |
G |
12: 104,669,410 (GRCm39) |
S1091P |
probably damaging |
Het |
| Dync1li1 |
T |
A |
9: 114,544,297 (GRCm39) |
I323N |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 38,942,154 (GRCm39) |
N349S |
probably damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,448,666 (GRCm39) |
M338T |
probably benign |
Het |
| Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
| Lactb2 |
A |
T |
1: 13,700,356 (GRCm39) |
I225N |
probably benign |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Mrps30 |
A |
G |
13: 118,523,698 (GRCm39) |
S25P |
probably benign |
Het |
| Myg1 |
T |
C |
15: 102,246,259 (GRCm39) |
V378A |
probably benign |
Het |
| Notch4 |
C |
T |
17: 34,806,097 (GRCm39) |
T1731I |
probably damaging |
Het |
| Ntmt1 |
A |
G |
2: 30,710,660 (GRCm39) |
D121G |
probably damaging |
Het |
| Or10p21 |
C |
A |
10: 128,847,783 (GRCm39) |
P210T |
probably damaging |
Het |
| Or5d39 |
A |
T |
2: 87,980,146 (GRCm39) |
D72E |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,719,424 (GRCm39) |
D1187G |
unknown |
Het |
| Pkd1 |
T |
A |
17: 24,784,047 (GRCm39) |
Y198N |
probably benign |
Het |
| Plk4 |
T |
A |
3: 40,756,419 (GRCm39) |
N83K |
possibly damaging |
Het |
| Prune2 |
A |
T |
19: 17,095,630 (GRCm39) |
Q378L |
probably damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Rasa1 |
G |
T |
13: 85,436,674 (GRCm39) |
T118K |
possibly damaging |
Het |
| Rin3 |
G |
A |
12: 102,292,093 (GRCm39) |
V97M |
probably damaging |
Het |
| Rock2 |
T |
C |
12: 17,015,655 (GRCm39) |
|
probably null |
Het |
| Slc34a1 |
A |
G |
13: 55,551,081 (GRCm39) |
I289V |
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,560,103 (GRCm39) |
L443P |
probably damaging |
Het |
| Slco2a1 |
A |
T |
9: 102,947,462 (GRCm39) |
I254F |
probably damaging |
Het |
| Spink11 |
T |
C |
18: 44,328,753 (GRCm39) |
I32V |
probably benign |
Het |
| Spire1 |
T |
C |
18: 67,639,625 (GRCm39) |
E296G |
probably damaging |
Het |
| Syt14 |
T |
A |
1: 192,612,971 (GRCm39) |
T610S |
possibly damaging |
Het |
| Tenm3 |
T |
C |
8: 48,740,866 (GRCm39) |
I1206V |
possibly damaging |
Het |
| Tet3 |
A |
T |
6: 83,353,746 (GRCm39) |
|
probably null |
Het |
| Thbs1 |
A |
T |
2: 117,953,147 (GRCm39) |
Q919L |
probably damaging |
Het |
| Trappc10 |
A |
G |
10: 78,024,674 (GRCm39) |
F1152L |
possibly damaging |
Het |
| Trp63 |
C |
A |
16: 25,682,468 (GRCm39) |
N176K |
probably damaging |
Het |
| Zbtb17 |
A |
G |
4: 141,194,072 (GRCm39) |
E700G |
probably benign |
Het |
| Zfp446 |
G |
A |
7: 12,711,984 (GRCm39) |
R69H |
probably benign |
Het |
| Zfy2 |
C |
T |
Y: 2,106,555 (GRCm39) |
C693Y |
possibly damaging |
Het |
| Zxdc |
A |
G |
6: 90,359,128 (GRCm39) |
T587A |
probably damaging |
Het |
| Zyg11a |
A |
G |
4: 108,046,819 (GRCm39) |
C552R |
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 |
|
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 |
|
|
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'- AGGTGCCTTCGAAATATTTGC -3'
(R):5'- GATTGGCTGTTCAAAAGTGGC -3'
Sequencing Primer
(F):5'- CCTACTTTTACTAGGTAAGACATGGC -3'
(R):5'- CTGTTCAAAAGTGGCATGAAAAGC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation