Incidental Mutation 'R0124:Sun1'
| ID |
21213 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sun1
|
| Ensembl Gene |
ENSMUSG00000036817 |
| Gene Name |
Sad1 and UNC84 domain containing 1 |
| Synonyms |
4632417G13Rik, 5730434D03Rik, Unc84a |
| MMRRC Submission |
038409-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0124 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
5 |
| Chromosomal Location |
139186392-139235595 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 139232434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058716]
[ENSMUST00000078690]
[ENSMUST00000110882]
[ENSMUST00000110883]
[ENSMUST00000110884]
|
| 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: 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: 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 |
probably benign
Transcript: ENSMUST00000127310
|
| SMART Domains |
Protein: ENSMUSP00000114514
Gene: ENSMUSG00000036817
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
11 |
N/A |
INTRINSIC |
|
PDB:4DXS|A
|
38 |
73 |
3e-6 |
PDB |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.3%
- 10x: 95.7%
- 20x: 89.8%
|
| Validation Efficiency |
100% (67/67) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
G |
6: 83,138,656 (GRCm39) |
T194A |
probably benign |
Het |
| Afap1 |
C |
T |
5: 36,102,553 (GRCm39) |
P82S |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,449,698 (GRCm39) |
Y481H |
probably damaging |
Het |
| Arid1b |
C |
T |
17: 5,389,605 (GRCm39) |
T1717I |
probably damaging |
Het |
| Atad2b |
A |
G |
12: 5,002,676 (GRCm39) |
K348R |
probably benign |
Het |
| Bcl3 |
C |
T |
7: 19,543,576 (GRCm39) |
V5M |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,118,725 (GRCm39) |
E2321G |
probably benign |
Het |
| Casq1 |
C |
T |
1: 172,037,992 (GRCm39) |
V380M |
probably damaging |
Het |
| Cd209e |
T |
A |
8: 3,901,274 (GRCm39) |
T127S |
probably benign |
Het |
| Cdh23 |
G |
T |
10: 60,143,835 (GRCm39) |
Y2921* |
probably null |
Het |
| Cdh6 |
A |
G |
15: 13,034,410 (GRCm39) |
L750P |
probably damaging |
Het |
| Cdk12 |
T |
C |
11: 98,102,073 (GRCm39) |
|
probably benign |
Het |
| Ces5a |
T |
C |
8: 94,255,183 (GRCm39) |
E170G |
probably damaging |
Het |
| Clec4f |
A |
G |
6: 83,629,335 (GRCm39) |
|
probably null |
Het |
| Col19a1 |
T |
C |
1: 24,565,539 (GRCm39) |
N264S |
unknown |
Het |
| Col2a1 |
T |
A |
15: 97,896,743 (GRCm39) |
I43F |
unknown |
Het |
| Col4a2 |
A |
G |
8: 11,458,871 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,454,112 (GRCm39) |
D3578V |
probably damaging |
Het |
| Cyp2c37 |
T |
C |
19: 39,982,546 (GRCm39) |
L128P |
probably damaging |
Het |
| Dennd2b |
A |
G |
7: 109,141,718 (GRCm39) |
S132P |
possibly damaging |
Het |
| Dysf |
A |
G |
6: 84,042,084 (GRCm39) |
|
probably benign |
Het |
| Eml1 |
T |
C |
12: 108,472,867 (GRCm39) |
V225A |
probably benign |
Het |
| Eml1 |
A |
G |
12: 108,475,437 (GRCm39) |
Y256C |
probably damaging |
Het |
| Epb41l5 |
T |
A |
1: 119,561,370 (GRCm39) |
K64* |
probably null |
Het |
| Fat2 |
A |
G |
11: 55,174,504 (GRCm39) |
F2070L |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,520,583 (GRCm39) |
H259N |
probably benign |
Het |
| Gm10764 |
A |
T |
10: 87,126,610 (GRCm39) |
T6S |
unknown |
Het |
| Gm14412 |
A |
G |
2: 177,007,705 (GRCm39) |
|
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,133,646 (GRCm39) |
|
probably benign |
Het |
| Hid1 |
T |
C |
11: 115,247,649 (GRCm39) |
T250A |
probably damaging |
Het |
| Hnf4g |
A |
G |
3: 3,708,142 (GRCm39) |
|
probably benign |
Het |
| Ifnar1 |
C |
T |
16: 91,296,425 (GRCm39) |
Q309* |
probably null |
Het |
| Lrriq1 |
C |
T |
10: 103,006,281 (GRCm39) |
|
probably null |
Het |
| Map3k13 |
A |
G |
16: 21,722,506 (GRCm39) |
T223A |
possibly damaging |
Het |
| Matn2 |
C |
T |
15: 34,426,297 (GRCm39) |
|
probably benign |
Het |
| Myo6 |
A |
G |
9: 80,215,056 (GRCm39) |
E1253G |
probably damaging |
Het |
| Nomo1 |
G |
T |
7: 45,732,652 (GRCm39) |
|
probably benign |
Het |
| Or1ak2 |
A |
T |
2: 36,827,268 (GRCm39) |
I46F |
possibly damaging |
Het |
| Or4c116 |
A |
T |
2: 88,942,088 (GRCm39) |
I256K |
possibly damaging |
Het |
| Or8a1b |
A |
G |
9: 37,622,759 (GRCm39) |
V272A |
possibly damaging |
Het |
| Papolg |
C |
T |
11: 23,817,535 (GRCm39) |
A582T |
probably benign |
Het |
| Plekhm3 |
C |
T |
1: 64,960,910 (GRCm39) |
E449K |
probably damaging |
Het |
| Pole |
T |
G |
5: 110,451,858 (GRCm39) |
M900R |
probably damaging |
Het |
| Ppp1cb |
T |
A |
5: 32,640,822 (GRCm39) |
|
probably benign |
Het |
| Pramel17 |
A |
G |
4: 101,692,570 (GRCm39) |
*477Q |
probably null |
Het |
| Pros1 |
A |
G |
16: 62,734,309 (GRCm39) |
T372A |
possibly damaging |
Het |
| Scara3 |
A |
T |
14: 66,168,670 (GRCm39) |
S316T |
probably benign |
Het |
| Stau2 |
C |
T |
1: 16,533,352 (GRCm39) |
A61T |
probably damaging |
Het |
| Stx3 |
T |
C |
19: 11,769,163 (GRCm39) |
E54G |
possibly damaging |
Het |
| Swt1 |
A |
T |
1: 151,267,280 (GRCm39) |
C634S |
probably damaging |
Het |
| Syt6 |
A |
G |
3: 103,494,842 (GRCm39) |
Y269C |
probably damaging |
Het |
| Tfap2a |
G |
A |
13: 40,870,887 (GRCm39) |
|
probably benign |
Het |
| Tmx4 |
A |
T |
2: 134,481,640 (GRCm39) |
|
probably null |
Het |
| Ttc39d |
T |
C |
17: 80,524,375 (GRCm39) |
C345R |
probably damaging |
Het |
| Vmn1r27 |
T |
C |
6: 58,192,233 (GRCm39) |
Y257C |
probably damaging |
Het |
| Vmn2r27 |
T |
A |
6: 124,208,578 (GRCm39) |
T56S |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,576,674 (GRCm39) |
|
probably null |
Het |
| Wdr17 |
A |
G |
8: 55,088,526 (GRCm39) |
S1175P |
probably damaging |
Het |
| Wsb2 |
T |
C |
5: 117,501,823 (GRCm39) |
F63L |
probably benign |
Het |
| Zfp142 |
A |
G |
1: 74,607,782 (GRCm39) |
Y1561H |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCTTTGTGCATCTCATTCACCTG -3'
(R):5'- AGTGTGACATTCCAGTGATGCTGAC -3'
Sequencing Primer
(F):5'- GTATAGACAGGTCTCTGCTGTACAC -3'
(R):5'- CCCTCTGGATAAAGGAAATGTCTCTC -3'
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| Posted On |
2013-04-11 |
Incidental Mutation