Incidental Mutation 'R9262:Sun1'
ID |
702309 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sun1
|
Ensembl Gene |
ENSMUSG00000036817 |
Gene Name |
Sad1 and UNC84 domain containing 1 |
Synonyms |
4632417G13Rik, 5730434D03Rik, Unc84a |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9262 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
139186392-139235595 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 139200918 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 37
(S37P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114869
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058716]
[ENSMUST00000078690]
[ENSMUST00000100517]
[ENSMUST00000110882]
[ENSMUST00000110883]
[ENSMUST00000110884]
[ENSMUST00000127045]
[ENSMUST00000148772]
[ENSMUST00000129079]
[ENSMUST00000143562]
[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: 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: 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: ENSMUST00000127045
|
SMART Domains |
Protein: ENSMUSP00000123211 Gene: ENSMUSG00000036817
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000148772
AA Change: S37P
|
SMART Domains |
Protein: ENSMUSP00000114869 Gene: ENSMUSG00000036817 AA Change: S37P
Domain | Start | End | E-Value | Type |
low complexity region
|
64 |
76 |
N/A |
INTRINSIC |
Pfam:MRP
|
103 |
176 |
1.9e-24 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000129079
AA Change: S5P
|
SMART Domains |
Protein: ENSMUSP00000119582 Gene: ENSMUSG00000036817 AA Change: S5P
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: 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
97% (73/75) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
A |
T |
2: 68,443,375 (GRCm39) |
H192L |
unknown |
Het |
Abca4 |
T |
A |
3: 121,964,639 (GRCm39) |
C2149S |
probably damaging |
Het |
Abl2 |
G |
A |
1: 156,469,820 (GRCm39) |
G1028D |
possibly damaging |
Het |
Adgre1 |
A |
G |
17: 57,754,941 (GRCm39) |
T680A |
probably damaging |
Het |
Amn |
G |
A |
12: 111,237,585 (GRCm39) |
W10* |
probably null |
Het |
Ankhd1 |
G |
T |
18: 36,765,799 (GRCm39) |
V140F |
|
Het |
Asnsd1 |
A |
T |
1: 53,383,934 (GRCm39) |
N613K |
probably benign |
Het |
Bbs2 |
A |
T |
8: 94,807,543 (GRCm39) |
I417N |
probably damaging |
Het |
Cad |
T |
A |
5: 31,225,009 (GRCm39) |
W971R |
probably null |
Het |
Cand2 |
A |
T |
6: 115,759,730 (GRCm39) |
I134F |
probably benign |
Het |
Ccdc154 |
C |
A |
17: 25,389,160 (GRCm39) |
H453N |
probably damaging |
Het |
Ccdc168 |
A |
G |
1: 44,096,269 (GRCm39) |
S1610P |
possibly damaging |
Het |
Ccdc7a |
T |
A |
8: 129,486,277 (GRCm39) |
H1601L |
possibly damaging |
Het |
Ccdc9 |
A |
C |
7: 16,012,400 (GRCm39) |
S261A |
probably benign |
Het |
Cdkl3 |
T |
A |
11: 51,916,702 (GRCm39) |
S277T |
probably benign |
Het |
Cipc |
T |
A |
12: 86,999,497 (GRCm39) |
Y8* |
probably null |
Het |
Cramp1 |
A |
G |
17: 25,232,920 (GRCm39) |
S27P |
probably damaging |
Het |
Csf1r |
A |
T |
18: 61,243,406 (GRCm39) |
M141L |
probably benign |
Het |
Csf2rb2 |
G |
T |
15: 78,168,535 (GRCm39) |
F873L |
probably damaging |
Het |
Dchs1 |
G |
A |
7: 105,404,833 (GRCm39) |
R2570W |
probably damaging |
Het |
Dmxl1 |
A |
T |
18: 49,976,919 (GRCm39) |
N94Y |
probably benign |
Het |
Dnajc10 |
A |
G |
2: 80,176,965 (GRCm39) |
K640R |
probably benign |
Het |
Epha8 |
A |
C |
4: 136,658,995 (GRCm39) |
H886Q |
probably benign |
Het |
Fcgbp |
G |
C |
7: 27,819,952 (GRCm39) |
D2560H |
probably damaging |
Het |
Fry |
T |
G |
5: 150,305,109 (GRCm39) |
F605V |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,807,662 (GRCm39) |
N1327S |
probably benign |
Het |
Gm12117 |
T |
C |
11: 33,226,001 (GRCm39) |
T112A |
probably benign |
Het |
Gm3604 |
A |
T |
13: 62,517,697 (GRCm39) |
N220K |
probably damaging |
Het |
Gm572 |
T |
C |
4: 148,735,652 (GRCm39) |
V27A |
probably benign |
Het |
Gpr39 |
A |
G |
1: 125,800,524 (GRCm39) |
K425R |
probably benign |
Het |
Heatr3 |
A |
G |
8: 88,883,097 (GRCm39) |
D349G |
probably benign |
Het |
Hip1 |
A |
G |
5: 135,478,541 (GRCm39) |
S248P |
probably damaging |
Het |
Itga11 |
A |
G |
9: 62,659,678 (GRCm39) |
|
probably benign |
Het |
Itga3 |
C |
T |
11: 94,956,625 (GRCm39) |
V210I |
probably benign |
Het |
Jmjd1c |
T |
C |
10: 67,083,793 (GRCm39) |
I2173T |
probably benign |
Het |
Klf13 |
G |
A |
7: 63,574,456 (GRCm39) |
Q21* |
probably null |
Het |
Kmt2a |
A |
T |
9: 44,731,222 (GRCm39) |
S3032T |
probably benign |
Het |
Krt34 |
T |
C |
11: 99,930,851 (GRCm39) |
R184G |
probably benign |
Het |
Krtap16-1 |
T |
C |
11: 99,876,994 (GRCm39) |
T137A |
probably benign |
Het |
Ldc1 |
A |
G |
4: 130,114,153 (GRCm39) |
V88A |
possibly damaging |
Het |
Mgam |
T |
C |
6: 40,723,422 (GRCm39) |
|
probably null |
Het |
Mog |
T |
C |
17: 37,325,648 (GRCm39) |
T196A |
possibly damaging |
Het |
Ms4a6d |
T |
C |
19: 11,579,216 (GRCm39) |
Y87C |
possibly damaging |
Het |
Ndrg4 |
C |
T |
8: 96,435,812 (GRCm39) |
|
probably benign |
Het |
Nsd1 |
T |
A |
13: 55,394,871 (GRCm39) |
M927K |
possibly damaging |
Het |
Or11l3 |
T |
A |
11: 58,516,282 (GRCm39) |
M197L |
probably benign |
Het |
Or4a73 |
G |
T |
2: 89,421,435 (GRCm39) |
T8K |
probably damaging |
Het |
Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
Pcdhac2 |
A |
G |
18: 37,279,095 (GRCm39) |
R692G |
possibly damaging |
Het |
Pcsk4 |
T |
A |
10: 80,160,864 (GRCm39) |
S321C |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,120,859 (GRCm39) |
F1292L |
|
Het |
Pigv |
G |
T |
4: 133,397,110 (GRCm39) |
P6Q |
possibly damaging |
Het |
Pkhd1 |
A |
C |
1: 20,618,351 (GRCm39) |
S927A |
probably benign |
Het |
Pnpla3 |
A |
T |
15: 84,055,363 (GRCm39) |
I90F |
probably benign |
Het |
Pole |
C |
A |
5: 110,473,422 (GRCm39) |
L1739I |
probably damaging |
Het |
Pole |
T |
A |
5: 110,473,423 (GRCm39) |
L1739H |
probably damaging |
Het |
Rbm12 |
A |
T |
2: 155,939,317 (GRCm39) |
N318K |
possibly damaging |
Het |
Rpl18a |
A |
T |
8: 71,348,179 (GRCm39) |
L168Q |
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,765,854 (GRCm39) |
N1294S |
probably damaging |
Het |
Sema5b |
T |
C |
16: 35,453,223 (GRCm39) |
L98P |
possibly damaging |
Het |
Slco1a8 |
G |
T |
6: 141,926,594 (GRCm39) |
F597L |
probably damaging |
Het |
Smg7 |
A |
G |
1: 152,721,262 (GRCm39) |
V650A |
probably damaging |
Het |
Spata31d1e |
T |
C |
13: 59,890,402 (GRCm39) |
M473V |
probably benign |
Het |
Strada |
C |
T |
11: 106,075,444 (GRCm39) |
R13Q |
probably damaging |
Het |
Syce1l |
T |
C |
8: 114,380,738 (GRCm39) |
|
probably null |
Het |
Tdg |
T |
A |
10: 82,480,507 (GRCm39) |
F263L |
probably damaging |
Het |
Tead3 |
G |
T |
17: 28,560,495 (GRCm39) |
S36R |
probably benign |
Het |
Timm44 |
A |
G |
8: 4,310,621 (GRCm39) |
L377P |
probably damaging |
Het |
Tk1 |
C |
T |
11: 117,716,581 (GRCm39) |
V9M |
probably benign |
Het |
Trim36 |
A |
G |
18: 46,300,506 (GRCm39) |
Y722H |
probably benign |
Het |
Ttn |
A |
T |
2: 76,640,232 (GRCm39) |
M13792K |
possibly damaging |
Het |
Unc80 |
A |
G |
1: 66,594,411 (GRCm39) |
|
probably benign |
Het |
Usp46 |
G |
T |
5: 74,189,965 (GRCm39) |
A133E |
probably benign |
Het |
Wnk2 |
T |
A |
13: 49,221,430 (GRCm39) |
R1240S |
probably benign |
Het |
Zfp821 |
G |
A |
8: 110,450,982 (GRCm39) |
R325Q |
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 |
|
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 |
R9558:Sun1
|
UTSW |
5 |
139,211,019 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTACAAGCATGGAGGTCAG -3'
(R):5'- CTCAAGGCCTCCATGATCAC -3'
Sequencing Primer
(F):5'- ATATTGGTTCTGGGATCCAACC -3'
(R):5'- CACTAAGAGTTCAATGCTGTGTGCC -3'
|
Posted On |
2022-03-25 |