Incidental Mutation 'R6753:Sun1'
| ID |
530883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sun1
|
| Ensembl Gene |
ENSMUSG00000036817 |
| Gene Name |
Sad1 and UNC84 domain containing 1 |
| Synonyms |
4632417G13Rik, 5730434D03Rik, Unc84a |
| MMRRC Submission |
044870-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6753 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
139186392-139235595 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 139201014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058716]
[ENSMUST00000078690]
[ENSMUST00000100517]
[ENSMUST00000110882]
[ENSMUST00000110883]
[ENSMUST00000110884]
[ENSMUST00000127045]
[ENSMUST00000129079]
[ENSMUST00000143562]
[ENSMUST00000146715]
[ENSMUST00000148772]
|
| AlphaFold |
Q9D666 |
| Predicted Effect |
probably null
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 null
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 null
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 null
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 null
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 null
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: ENSMUST00000123414
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000127045
|
| SMART Domains |
Protein: ENSMUSP00000123211
Gene: ENSMUSG00000036817
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000129079
|
| SMART Domains |
Protein: ENSMUSP00000119582
Gene: ENSMUSG00000036817
| 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 null
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 null
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 null
Transcript: ENSMUST00000148772
|
| SMART Domains |
Protein: ENSMUSP00000114869
Gene: ENSMUSG00000036817
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
64 |
76 |
N/A |
INTRINSIC |
|
Pfam:MRP
|
103 |
176 |
1.9e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136311
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142473
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196947
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
99% (68/69) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
G |
A |
11: 119,900,977 (GRCm39) |
P1083S |
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,908,641 (GRCm39) |
N101I |
possibly damaging |
Het |
| Adrb2 |
A |
G |
18: 62,312,624 (GRCm39) |
V67A |
possibly damaging |
Het |
| Agk |
T |
A |
6: 40,345,504 (GRCm39) |
|
probably null |
Het |
| Akap10 |
A |
T |
11: 61,777,603 (GRCm39) |
M586K |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| Armc1 |
A |
G |
3: 19,198,562 (GRCm39) |
F133L |
possibly damaging |
Het |
| Bank1 |
T |
C |
3: 135,799,069 (GRCm39) |
E424G |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,306,834 (GRCm39) |
E1363G |
probably damaging |
Het |
| Cacna1d |
C |
A |
14: 29,764,743 (GRCm39) |
A2076S |
probably damaging |
Het |
| Ccdc73 |
T |
A |
2: 104,821,869 (GRCm39) |
L606* |
probably null |
Het |
| Ccdc8 |
C |
T |
7: 16,730,562 (GRCm39) |
Q684* |
probably null |
Het |
| Ces1b |
T |
A |
8: 93,793,648 (GRCm39) |
K314* |
probably null |
Het |
| Ces1e |
T |
A |
8: 93,941,756 (GRCm39) |
N238I |
probably damaging |
Het |
| Chd4 |
A |
G |
6: 125,091,263 (GRCm39) |
N1238S |
probably benign |
Het |
| Cmtr2 |
T |
A |
8: 110,949,611 (GRCm39) |
D640E |
probably damaging |
Het |
| Col7a1 |
C |
T |
9: 108,787,196 (GRCm39) |
T559I |
unknown |
Het |
| Comt |
T |
C |
16: 18,226,771 (GRCm39) |
K205R |
probably benign |
Het |
| Dbp |
A |
T |
7: 45,357,828 (GRCm39) |
E232V |
probably damaging |
Het |
| Dcbld2 |
A |
G |
16: 58,276,493 (GRCm39) |
T470A |
possibly damaging |
Het |
| Eml6 |
T |
A |
11: 29,704,987 (GRCm39) |
D1519V |
probably damaging |
Het |
| Evpl |
T |
A |
11: 116,128,732 (GRCm39) |
H31L |
possibly damaging |
Het |
| Exoc1 |
T |
A |
5: 76,711,186 (GRCm39) |
I86N |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
| Fgfr3 |
T |
C |
5: 33,889,503 (GRCm39) |
S301P |
probably benign |
Het |
| Gas2l1 |
C |
T |
11: 5,014,254 (GRCm39) |
V69I |
probably damaging |
Het |
| Gm2042 |
T |
A |
12: 87,924,854 (GRCm39) |
I107K |
probably damaging |
Het |
| Gucy1b1 |
T |
C |
3: 81,947,054 (GRCm39) |
D385G |
probably null |
Het |
| Ints1 |
T |
A |
5: 139,750,930 (GRCm39) |
E824D |
probably damaging |
Het |
| Itfg1 |
T |
C |
8: 86,561,707 (GRCm39) |
D142G |
probably benign |
Het |
| Jaml |
A |
G |
9: 45,018,677 (GRCm39) |
N359D |
probably benign |
Het |
| Kcnh7 |
T |
A |
2: 62,680,721 (GRCm39) |
I289L |
probably benign |
Het |
| Klf12 |
G |
A |
14: 100,347,212 (GRCm39) |
Q40* |
probably null |
Het |
| Mcm4 |
A |
C |
16: 15,447,226 (GRCm39) |
N579K |
possibly damaging |
Het |
| Mfsd2b |
A |
T |
12: 4,917,358 (GRCm39) |
F179I |
possibly damaging |
Het |
| Mmp11 |
C |
T |
10: 75,764,208 (GRCm39) |
V86M |
probably damaging |
Het |
| Mogs |
T |
C |
6: 83,092,863 (GRCm39) |
V101A |
probably damaging |
Het |
| Narf |
T |
A |
11: 121,133,452 (GRCm39) |
H84Q |
probably benign |
Het |
| Or5ak4 |
C |
A |
2: 85,162,142 (GRCm39) |
M33I |
probably benign |
Het |
| Otog |
A |
C |
7: 45,898,495 (GRCm39) |
E204D |
probably benign |
Het |
| Parp8 |
G |
A |
13: 117,031,651 (GRCm39) |
H354Y |
possibly damaging |
Het |
| Pcnx1 |
C |
A |
12: 82,011,254 (GRCm39) |
D1238E |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,351,081 (GRCm39) |
T642I |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,453,059 (GRCm39) |
E3995K |
probably benign |
Het |
| Prdm9 |
A |
T |
17: 15,765,218 (GRCm39) |
Y521N |
probably benign |
Het |
| Prex2 |
A |
G |
1: 11,254,680 (GRCm39) |
S1105G |
probably damaging |
Het |
| Prss35 |
T |
A |
9: 86,638,153 (GRCm39) |
F308I |
probably damaging |
Het |
| Rab22a |
C |
T |
2: 173,542,848 (GRCm39) |
A167V |
probably benign |
Het |
| Rims2 |
A |
G |
15: 39,430,369 (GRCm39) |
Q871R |
possibly damaging |
Het |
| Rorb |
A |
T |
19: 18,934,611 (GRCm39) |
M253K |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,482,955 (GRCm39) |
D4269G |
probably damaging |
Het |
| Snx11 |
T |
C |
11: 96,660,732 (GRCm39) |
|
probably benign |
Het |
| Son |
A |
G |
16: 91,454,076 (GRCm39) |
Q941R |
probably damaging |
Het |
| Sptbn2 |
G |
T |
19: 4,797,813 (GRCm39) |
R1880L |
probably benign |
Het |
| Tprn |
A |
G |
2: 25,154,050 (GRCm39) |
R451G |
probably benign |
Het |
| Trbv30 |
T |
A |
6: 41,258,311 (GRCm39) |
M1K |
probably null |
Het |
| Ttn |
C |
A |
2: 76,568,565 (GRCm39) |
G25697W |
probably damaging |
Het |
| Ubb |
T |
G |
11: 62,442,353 (GRCm39) |
|
probably null |
Het |
| Unc13b |
C |
T |
4: 43,239,331 (GRCm39) |
R1038C |
probably damaging |
Het |
| Usp7 |
T |
C |
16: 8,514,775 (GRCm39) |
M687V |
probably benign |
Het |
| Zfp160 |
G |
A |
17: 21,240,996 (GRCm39) |
M21I |
probably benign |
Het |
| Zfp868 |
T |
C |
8: 70,064,747 (GRCm39) |
N196S |
probably benign |
Het |
| Zup1 |
A |
T |
10: 33,804,025 (GRCm39) |
I483N |
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 |
|
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'- CATGAAAGAAACTTTGACTTGGGAC -3'
(R):5'- ACTTGCTCCCAATCATGGCC -3'
Sequencing Primer
(F):5'- GTTATAATCAAAATGGGACTGCCAGC -3'
(R):5'- TCCCAATCATGGCCAAGGG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation