Incidental Mutation 'R7494:Sun1'
| ID |
580979 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R7494 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
139186392-139235595 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 139221475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 553
(P553S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056655
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058716]
[ENSMUST00000078690]
[ENSMUST00000110882]
[ENSMUST00000110883]
[ENSMUST00000110884]
|
| AlphaFold |
Q9D666 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058716
AA Change: P553S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000056655
Gene: ENSMUSG00000036817
AA Change: P553S
| 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
AA Change: P489S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000077756
Gene: ENSMUSG00000036817
AA Change: P489S
| 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
AA Change: P397S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106506
Gene: ENSMUSG00000036817
AA Change: P397S
| 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
AA Change: P430S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106507
Gene: ENSMUSG00000036817
AA Change: P430S
| 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
AA Change: P516S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106508
Gene: ENSMUSG00000036817
AA Change: P516S
| 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: ENSMUST00000128817
AA Change: P48S
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000119587
Gene: ENSMUSG00000036817
AA Change: P48S
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
G |
A |
11: 110,099,571 (GRCm39) |
T992I |
possibly damaging |
Het |
| Adamts10 |
T |
A |
17: 33,768,352 (GRCm39) |
C841* |
probably null |
Het |
| AI661453 |
C |
T |
17: 47,779,105 (GRCm39) |
P944S |
unknown |
Het |
| Als2 |
G |
A |
1: 59,222,325 (GRCm39) |
|
probably null |
Het |
| Anapc2 |
A |
G |
2: 25,166,376 (GRCm39) |
E381G |
possibly damaging |
Het |
| Ank3 |
T |
C |
10: 69,824,756 (GRCm39) |
Y1142H |
|
Het |
| Apip |
A |
T |
2: 102,922,896 (GRCm39) |
N238I |
probably benign |
Het |
| Cblc |
A |
T |
7: 19,526,737 (GRCm39) |
V165D |
possibly damaging |
Het |
| Cep295nl |
T |
A |
11: 118,224,758 (GRCm39) |
M29L |
probably benign |
Het |
| Clec12a |
A |
G |
6: 129,330,362 (GRCm39) |
I47V |
possibly damaging |
Het |
| Dpp9 |
T |
C |
17: 56,507,619 (GRCm39) |
Y350C |
probably damaging |
Het |
| Enpp2 |
C |
T |
15: 54,773,554 (GRCm39) |
G56R |
probably damaging |
Het |
| Epsti1 |
G |
T |
14: 78,166,194 (GRCm39) |
E82D |
probably benign |
Het |
| Eri2 |
C |
A |
7: 119,385,304 (GRCm39) |
C399F |
probably damaging |
Het |
| Ern1 |
T |
C |
11: 106,298,361 (GRCm39) |
T672A |
probably damaging |
Het |
| Fbxo21 |
T |
A |
5: 118,138,388 (GRCm39) |
C445S |
possibly damaging |
Het |
| Folh1 |
G |
T |
7: 86,368,907 (GRCm39) |
T740K |
probably damaging |
Het |
| Gapt |
A |
G |
13: 110,490,262 (GRCm39) |
Y134H |
probably damaging |
Het |
| Gm19410 |
T |
C |
8: 36,262,684 (GRCm39) |
S874P |
probably damaging |
Het |
| Gm2431 |
G |
A |
7: 141,811,547 (GRCm39) |
P119L |
unknown |
Het |
| Gzmc |
G |
A |
14: 56,469,785 (GRCm39) |
Q172* |
probably null |
Het |
| Hoxa1 |
C |
A |
6: 52,134,571 (GRCm39) |
V211F |
probably damaging |
Het |
| Hyou1 |
G |
T |
9: 44,300,706 (GRCm39) |
R925L |
probably benign |
Het |
| Ift70a1 |
A |
C |
2: 75,810,242 (GRCm39) |
F614V |
probably damaging |
Het |
| Ilvbl |
A |
G |
10: 78,414,857 (GRCm39) |
Y240C |
possibly damaging |
Het |
| Lama1 |
T |
A |
17: 68,118,441 (GRCm39) |
F2551Y |
|
Het |
| Lrrtm3 |
A |
G |
10: 63,924,958 (GRCm39) |
Y70H |
probably damaging |
Het |
| Naa38 |
T |
A |
11: 69,287,126 (GRCm39) |
C69S |
probably damaging |
Het |
| Or12e7 |
T |
A |
2: 87,287,912 (GRCm39) |
N134K |
probably damaging |
Het |
| Or2t46 |
T |
C |
11: 58,472,038 (GRCm39) |
S123P |
probably damaging |
Het |
| Or8k25 |
A |
T |
2: 86,243,592 (GRCm39) |
I268N |
probably benign |
Het |
| Panx3 |
A |
G |
9: 37,572,608 (GRCm39) |
L314P |
probably damaging |
Het |
| Polr2f |
T |
C |
15: 79,028,865 (GRCm39) |
|
probably null |
Het |
| Prkcd |
C |
A |
14: 30,331,150 (GRCm39) |
R75L |
probably benign |
Het |
| Psap |
A |
C |
10: 60,135,275 (GRCm39) |
L313F |
probably benign |
Het |
| Psen1 |
T |
A |
12: 83,775,017 (GRCm39) |
C263S |
probably benign |
Het |
| Ptma |
GGAAGAAG |
GGAAGAAGAAG |
1: 86,457,261 (GRCm39) |
|
probably benign |
Het |
| Pura |
T |
A |
18: 36,420,942 (GRCm39) |
M243K |
probably damaging |
Het |
| Sec16b |
T |
C |
1: 157,388,369 (GRCm39) |
S579P |
probably benign |
Het |
| Septin1 |
T |
A |
7: 126,814,122 (GRCm39) |
E338V |
probably damaging |
Het |
| Sgms1 |
A |
G |
19: 32,107,091 (GRCm39) |
F255L |
probably benign |
Het |
| Slc4a2 |
A |
G |
5: 24,637,862 (GRCm39) |
T353A |
possibly damaging |
Het |
| Smg6 |
T |
C |
11: 74,820,449 (GRCm39) |
V240A |
probably benign |
Het |
| Sntg2 |
T |
G |
12: 30,279,633 (GRCm39) |
D340A |
possibly damaging |
Het |
| Tas2r140 |
T |
C |
6: 40,468,254 (GRCm39) |
V28A |
probably damaging |
Het |
| Tfcp2l1 |
T |
C |
1: 118,592,686 (GRCm39) |
F323S |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,666,284 (GRCm39) |
Y269H |
possibly damaging |
Het |
| Tpcn2 |
G |
A |
7: 144,832,586 (GRCm39) |
T90I |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,720,321 (GRCm39) |
Y6968* |
probably null |
Het |
| Vmn2r44 |
A |
T |
7: 8,386,122 (GRCm39) |
L39* |
probably null |
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 |
|
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'- TCAGGTTGATCACAAGGCTTC -3'
(R):5'- TGATGGCAGTATTAAGGCACC -3'
Sequencing Primer
(F):5'- GTTGATCACAAGGCTTCCCAGTG -3'
(R):5'- GTATTAAGGCACCAAAGATGTGCCC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation