Incidental Mutation 'R8772:Sun1'
ID |
664456 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sun1
|
Ensembl Gene |
ENSMUSG00000036817 |
Gene Name |
Sad1 and UNC84 domain containing 1 |
Synonyms |
4632417G13Rik, 5730434D03Rik, Unc84a |
MMRRC Submission |
068626-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8772 (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 139209447 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 59
(V59A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056655
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058716]
[ENSMUST00000078690]
[ENSMUST00000100517]
[ENSMUST00000110882]
[ENSMUST00000110883]
[ENSMUST00000110884]
[ENSMUST00000127045]
[ENSMUST00000129079]
[ENSMUST00000135720]
[ENSMUST00000143562]
[ENSMUST00000146715]
[ENSMUST00000148772]
|
AlphaFold |
Q9D666 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058716
AA Change: V59A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000056655 Gene: ENSMUSG00000036817 AA Change: V59A
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: V59A
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000077756 Gene: ENSMUSG00000036817 AA Change: V59A
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
AA Change: V59A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000098086 Gene: ENSMUSG00000036817 AA Change: V59A
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
AA Change: V59A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000106506 Gene: ENSMUSG00000036817 AA Change: V59A
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: V59A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000106507 Gene: ENSMUSG00000036817 AA Change: V59A
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: V59A
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000106508 Gene: ENSMUSG00000036817 AA Change: V59A
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 |
unknown
Transcript: ENSMUST00000127045
AA Change: V38A
|
SMART Domains |
Protein: ENSMUSP00000123211 Gene: ENSMUSG00000036817 AA Change: V38A
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129079
AA Change: V68A
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000119582 Gene: ENSMUSG00000036817 AA Change: V68A
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: 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 |
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143562
AA Change: V59A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000116364 Gene: ENSMUSG00000036817 AA Change: V59A
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
AA Change: V59A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000117679 Gene: ENSMUSG00000036817 AA Change: V59A
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 benign
Transcript: ENSMUST00000148772
AA Change: V100A
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000114869 Gene: ENSMUSG00000036817 AA Change: V100A
Domain | Start | End | E-Value | Type |
low complexity region
|
64 |
76 |
N/A |
INTRINSIC |
Pfam:MRP
|
103 |
176 |
1.9e-24 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
Validation Efficiency |
100% (83/83) |
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
T |
C |
17: 45,827,903 (GRCm39) |
V574A |
probably benign |
Het |
AC157566.4 |
T |
C |
15: 76,418,449 (GRCm39) |
Y20C |
probably benign |
Het |
Acacb |
A |
T |
5: 114,322,179 (GRCm39) |
D231V |
possibly damaging |
Het |
Acp7 |
C |
T |
7: 28,315,909 (GRCm39) |
V226M |
probably damaging |
Het |
Actr1a |
A |
G |
19: 46,370,731 (GRCm39) |
|
probably null |
Het |
Adamts16 |
T |
C |
13: 70,984,453 (GRCm39) |
Y70C |
probably damaging |
Het |
Adcy5 |
G |
A |
16: 35,119,958 (GRCm39) |
A1156T |
probably damaging |
Het |
Ago1 |
A |
T |
4: 126,354,316 (GRCm39) |
|
probably benign |
Het |
Akap9 |
G |
A |
5: 4,096,255 (GRCm39) |
E2377K |
probably damaging |
Het |
Asic2 |
A |
G |
11: 81,858,713 (GRCm39) |
S100P |
probably benign |
Het |
Atp1a1 |
A |
C |
3: 101,487,124 (GRCm39) |
V895G |
probably benign |
Het |
B3gnt7 |
A |
G |
1: 86,233,294 (GRCm39) |
E180G |
possibly damaging |
Het |
Cacna1c |
A |
T |
6: 118,579,283 (GRCm39) |
F1805I |
|
Het |
Cacna1g |
A |
G |
11: 94,356,713 (GRCm39) |
I141T |
probably benign |
Het |
Ccdc162 |
A |
G |
10: 41,506,033 (GRCm39) |
L919P |
probably damaging |
Het |
Cd47 |
A |
G |
16: 49,704,575 (GRCm39) |
I116V |
|
Het |
Cdca2 |
A |
T |
14: 67,935,529 (GRCm39) |
D395E |
probably damaging |
Het |
Celsr2 |
A |
T |
3: 108,304,389 (GRCm39) |
I2285N |
possibly damaging |
Het |
Chil5 |
T |
C |
3: 105,925,536 (GRCm39) |
D157G |
probably damaging |
Het |
Ciita |
A |
T |
16: 10,298,026 (GRCm39) |
I7F |
probably damaging |
Het |
Dok7 |
G |
T |
5: 35,234,593 (GRCm39) |
G215C |
probably damaging |
Het |
Eif2s2 |
T |
C |
2: 154,729,659 (GRCm39) |
I88V |
probably null |
Het |
Fasn |
A |
T |
11: 120,711,362 (GRCm39) |
D217E |
probably benign |
Het |
Fgd5 |
T |
A |
6: 92,027,400 (GRCm39) |
I1030N |
probably damaging |
Het |
Fpr-rs6 |
T |
A |
17: 20,402,495 (GRCm39) |
N289Y |
probably damaging |
Het |
Gm10392 |
C |
T |
11: 77,409,280 (GRCm39) |
V49I |
possibly damaging |
Het |
Gtf3c2 |
A |
T |
5: 31,331,758 (GRCm39) |
M20K |
probably benign |
Het |
Hoga1 |
A |
G |
19: 42,034,384 (GRCm39) |
M10V |
probably benign |
Het |
Homer1 |
T |
A |
13: 93,528,239 (GRCm39) |
V258E |
probably damaging |
Het |
Ifitm2 |
A |
G |
7: 140,535,803 (GRCm39) |
L9S |
probably benign |
Het |
Iqgap3 |
G |
A |
3: 87,997,144 (GRCm39) |
A176T |
probably benign |
Het |
Itga8 |
C |
G |
2: 12,187,495 (GRCm39) |
G728A |
probably damaging |
Het |
Lyst |
C |
T |
13: 13,812,077 (GRCm39) |
Q830* |
probably null |
Het |
Macc1 |
T |
C |
12: 119,411,220 (GRCm39) |
W663R |
probably damaging |
Het |
Mipol1 |
A |
T |
12: 57,372,418 (GRCm39) |
H159L |
probably benign |
Het |
Mocs1 |
T |
A |
17: 49,757,402 (GRCm39) |
|
probably null |
Het |
Ncoa1 |
T |
C |
12: 4,372,940 (GRCm39) |
T154A |
possibly damaging |
Het |
Noxred1 |
A |
C |
12: 87,273,867 (GRCm39) |
L58R |
probably benign |
Het |
Opcml |
T |
C |
9: 27,702,707 (GRCm39) |
V9A |
probably benign |
Het |
Or51e2 |
G |
A |
7: 102,392,210 (GRCm39) |
|
probably benign |
Het |
Or5ac23 |
A |
G |
16: 59,149,051 (GRCm39) |
S274P |
probably damaging |
Het |
Or8c17 |
G |
A |
9: 38,180,231 (GRCm39) |
V133I |
probably benign |
Het |
Otog |
A |
T |
7: 45,934,352 (GRCm39) |
R1303S |
probably damaging |
Het |
Parp11 |
T |
A |
6: 127,468,667 (GRCm39) |
I322N |
probably damaging |
Het |
Parp11 |
T |
A |
6: 127,447,726 (GRCm39) |
M20K |
possibly damaging |
Het |
Pde1b |
T |
C |
15: 103,433,548 (GRCm39) |
|
probably benign |
Het |
Pglyrp4 |
A |
T |
3: 90,647,707 (GRCm39) |
T356S |
possibly damaging |
Het |
Pitrm1 |
A |
G |
13: 6,628,596 (GRCm39) |
D963G |
probably damaging |
Het |
Plod3 |
T |
C |
5: 137,017,773 (GRCm39) |
V183A |
probably damaging |
Het |
Plxnb2 |
C |
T |
15: 89,046,949 (GRCm39) |
V791M |
probably damaging |
Het |
Poc1b |
T |
A |
10: 98,992,219 (GRCm39) |
|
probably benign |
Het |
Ppp1r7 |
A |
G |
1: 93,282,150 (GRCm39) |
T234A |
probably benign |
Het |
Pxdn |
C |
T |
12: 30,065,463 (GRCm39) |
T1441I |
probably damaging |
Het |
Rap1gap2 |
T |
C |
11: 74,296,551 (GRCm39) |
K479E |
probably damaging |
Het |
Rars2 |
A |
G |
4: 34,623,488 (GRCm39) |
D63G |
probably benign |
Het |
Rptor |
A |
C |
11: 119,615,858 (GRCm39) |
D124A |
probably damaging |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
C |
A |
7: 28,815,557 (GRCm39) |
R118L |
probably benign |
Het |
Sap130 |
G |
C |
18: 31,813,517 (GRCm39) |
D525H |
probably damaging |
Het |
Slc22a26 |
T |
C |
19: 7,767,477 (GRCm39) |
N310D |
probably benign |
Het |
Slc46a1 |
T |
G |
11: 78,356,777 (GRCm39) |
N58K |
probably benign |
Het |
Slc4a10 |
T |
A |
2: 62,134,284 (GRCm39) |
I1000N |
probably damaging |
Het |
Son |
C |
T |
16: 91,454,826 (GRCm39) |
T1191I |
possibly damaging |
Het |
Sppl2a |
T |
C |
2: 126,768,231 (GRCm39) |
K146E |
probably benign |
Het |
Srgap3 |
T |
A |
6: 112,743,906 (GRCm39) |
K444I |
probably damaging |
Het |
Sva |
T |
A |
6: 42,015,443 (GRCm39) |
Y37N |
probably benign |
Het |
Taar8c |
T |
A |
10: 23,977,705 (GRCm39) |
M36L |
probably benign |
Het |
Taf4b |
C |
T |
18: 14,968,909 (GRCm39) |
T682I |
probably damaging |
Het |
Tbx5 |
T |
A |
5: 119,976,790 (GRCm39) |
H59Q |
probably benign |
Het |
Tdrd1 |
A |
T |
19: 56,843,760 (GRCm39) |
Y746F |
probably damaging |
Het |
Tmem132e |
A |
G |
11: 82,325,137 (GRCm39) |
S46G |
probably damaging |
Het |
Tnfaip6 |
T |
A |
2: 51,941,077 (GRCm39) |
V206E |
possibly damaging |
Het |
Tpbpb |
T |
A |
13: 61,049,193 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
A |
2: 76,768,025 (GRCm39) |
K3025* |
probably null |
Het |
Tulp4 |
T |
A |
17: 6,227,168 (GRCm39) |
I106N |
probably damaging |
Het |
Ubp1 |
T |
A |
9: 113,801,897 (GRCm39) |
F454Y |
probably benign |
Het |
Ugt2b37 |
A |
T |
5: 87,402,345 (GRCm39) |
N95K |
probably benign |
Het |
Vps13d |
T |
A |
4: 144,801,602 (GRCm39) |
R3539W |
|
Het |
Vsnl1 |
T |
C |
12: 11,382,180 (GRCm39) |
H67R |
probably damaging |
Het |
Zbbx |
A |
G |
3: 75,062,692 (GRCm39) |
Y22H |
probably benign |
Het |
Zeb1 |
A |
G |
18: 5,770,382 (GRCm39) |
|
probably null |
Het |
Zfp142 |
A |
T |
1: 74,610,825 (GRCm39) |
L990Q |
possibly damaging |
Het |
Zmiz1 |
G |
A |
14: 25,646,118 (GRCm39) |
G265D |
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 |
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'- AGCTGCTTACCTGACTGATAC -3'
(R):5'- TGCACAAACAATTCCAGGGG -3'
Sequencing Primer
(F):5'- CCTTGCAGTGCAGTGAAGCTATAAC -3'
(R):5'- GAAGAGCTTGACCTGACAATCTG -3'
|
Posted On |
2021-03-08 |