Incidental Mutation 'IGL00962:Utrn'
ID |
28392 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Utrn
|
Ensembl Gene |
ENSMUSG00000019820 |
Gene Name |
utrophin |
Synonyms |
G-utrophin, DRP, Dmdl |
Accession Numbers |
|
Is this an essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00962
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
12382188-12869365 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 12481334 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 2747
(V2747I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151431
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076817]
[ENSMUST00000217994]
[ENSMUST00000218635]
[ENSMUST00000219003]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076817
AA Change: V2747I
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000076093 Gene: ENSMUSG00000019820 AA Change: V2747I
Domain | Start | End | E-Value | Type |
CH
|
33 |
133 |
1.87e-24 |
SMART |
CH
|
152 |
250 |
4.05e-20 |
SMART |
SPEC
|
312 |
416 |
2.31e-18 |
SMART |
SPEC
|
421 |
525 |
4.18e-16 |
SMART |
SPEC
|
532 |
636 |
3.35e-6 |
SMART |
low complexity region
|
665 |
679 |
N/A |
INTRINSIC |
SPEC
|
690 |
795 |
1.7e-7 |
SMART |
SPEC
|
801 |
901 |
1e-4 |
SMART |
SPEC
|
910 |
1012 |
8.24e-2 |
SMART |
SPEC
|
1019 |
1121 |
1.32e-4 |
SMART |
SPEC
|
1128 |
1229 |
2.64e-4 |
SMART |
SPEC
|
1236 |
1333 |
4.42e-6 |
SMART |
coiled coil region
|
1375 |
1401 |
N/A |
INTRINSIC |
SPEC
|
1438 |
1540 |
3.62e-2 |
SMART |
SPEC
|
1547 |
1648 |
7.95e-1 |
SMART |
SPEC
|
1655 |
1752 |
3.56e0 |
SMART |
coiled coil region
|
1766 |
1795 |
N/A |
INTRINSIC |
SPEC
|
1870 |
1972 |
3.63e0 |
SMART |
SPEC
|
1979 |
2080 |
5.15e-16 |
SMART |
SPEC
|
2087 |
2183 |
3.71e0 |
SMART |
SPEC
|
2227 |
2330 |
4.7e-10 |
SMART |
SPEC
|
2337 |
2437 |
1.02e0 |
SMART |
SPEC
|
2444 |
2553 |
2.35e-10 |
SMART |
SPEC
|
2560 |
2685 |
8.77e-10 |
SMART |
SPEC
|
2692 |
2794 |
4.13e-6 |
SMART |
WW
|
2811 |
2843 |
5.59e-7 |
SMART |
Pfam:EF-hand_2
|
2844 |
2962 |
3.8e-41 |
PFAM |
Pfam:EF-hand_3
|
2966 |
3057 |
1.6e-39 |
PFAM |
ZnF_ZZ
|
3062 |
3107 |
6.33e-17 |
SMART |
coiled coil region
|
3250 |
3289 |
N/A |
INTRINSIC |
coiled coil region
|
3310 |
3354 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217994
AA Change: V304I
PolyPhen 2
Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218635
AA Change: V2747I
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219003
AA Change: V273I
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
C |
T |
18: 67,431,653 |
|
probably null |
Het |
Atp8b1 |
C |
T |
18: 64,531,444 |
A1218T |
probably damaging |
Het |
AY761185 |
T |
C |
8: 20,944,595 |
D39G |
possibly damaging |
Het |
Fam167a |
G |
A |
14: 63,462,455 |
E155K |
probably damaging |
Het |
Fam35a |
A |
T |
14: 34,249,251 |
V559E |
probably damaging |
Het |
Fat3 |
C |
T |
9: 15,915,519 |
G4379D |
probably benign |
Het |
Fkbp10 |
A |
G |
11: 100,421,817 |
T300A |
probably benign |
Het |
Gm6665 |
T |
C |
18: 31,820,151 |
K57R |
probably benign |
Het |
Gnb4 |
T |
C |
3: 32,593,169 |
T86A |
probably benign |
Het |
H2-Q2 |
A |
G |
17: 35,342,849 |
Y105C |
probably damaging |
Het |
Ighv1-75 |
A |
G |
12: 115,834,263 |
|
probably benign |
Het |
Ilvbl |
A |
G |
10: 78,583,338 |
T474A |
possibly damaging |
Het |
Slc45a3 |
T |
A |
1: 131,977,527 |
V96D |
probably damaging |
Het |
Tmtc3 |
C |
T |
10: 100,471,953 |
G201R |
probably damaging |
Het |
Tnfsf14 |
G |
A |
17: 57,192,906 |
Q83* |
probably null |
Het |
Trpm2 |
A |
G |
10: 77,943,916 |
|
probably benign |
Het |
Ubr5 |
A |
T |
15: 37,985,934 |
F2219I |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,662,052 |
N3207D |
probably damaging |
Het |
Vmn1r35 |
A |
G |
6: 66,679,377 |
V103A |
possibly damaging |
Het |
Vmn2r97 |
A |
G |
17: 18,929,228 |
T293A |
probably damaging |
Het |
Wdr35 |
A |
G |
12: 9,021,726 |
|
probably benign |
Het |
|
Other mutations in Utrn |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00333:Utrn
|
APN |
10 |
12671830 |
missense |
probably damaging |
1.00 |
IGL00469:Utrn
|
APN |
10 |
12406529 |
missense |
probably damaging |
1.00 |
IGL00518:Utrn
|
APN |
10 |
12666843 |
splice site |
probably benign |
|
IGL00560:Utrn
|
APN |
10 |
12455467 |
nonsense |
probably null |
|
IGL00589:Utrn
|
APN |
10 |
12678618 |
missense |
possibly damaging |
0.53 |
IGL00662:Utrn
|
APN |
10 |
12664961 |
missense |
probably damaging |
0.99 |
IGL00754:Utrn
|
APN |
10 |
12663492 |
missense |
probably benign |
0.05 |
IGL00772:Utrn
|
APN |
10 |
12649185 |
missense |
probably benign |
|
IGL00775:Utrn
|
APN |
10 |
12745230 |
critical splice donor site |
probably null |
|
IGL00782:Utrn
|
APN |
10 |
12652811 |
missense |
probably benign |
0.13 |
IGL01584:Utrn
|
APN |
10 |
12726367 |
missense |
probably benign |
0.01 |
IGL01677:Utrn
|
APN |
10 |
12744157 |
missense |
probably damaging |
1.00 |
IGL01695:Utrn
|
APN |
10 |
12745342 |
missense |
probably benign |
0.00 |
IGL01743:Utrn
|
APN |
10 |
12711557 |
missense |
possibly damaging |
0.94 |
IGL01815:Utrn
|
APN |
10 |
12652716 |
missense |
probably benign |
0.00 |
IGL01901:Utrn
|
APN |
10 |
12640928 |
missense |
probably damaging |
1.00 |
IGL01982:Utrn
|
APN |
10 |
12748029 |
missense |
probably damaging |
1.00 |
IGL01983:Utrn
|
APN |
10 |
12669781 |
missense |
probably benign |
0.18 |
IGL02031:Utrn
|
APN |
10 |
12735204 |
missense |
probably damaging |
1.00 |
IGL02106:Utrn
|
APN |
10 |
12413973 |
missense |
possibly damaging |
0.92 |
IGL02134:Utrn
|
APN |
10 |
12643419 |
missense |
probably damaging |
0.99 |
IGL02209:Utrn
|
APN |
10 |
12683295 |
missense |
probably damaging |
0.97 |
IGL02217:Utrn
|
APN |
10 |
12751559 |
missense |
probably damaging |
1.00 |
IGL02250:Utrn
|
APN |
10 |
12436391 |
missense |
probably damaging |
1.00 |
IGL02307:Utrn
|
APN |
10 |
12750065 |
nonsense |
probably null |
|
IGL02386:Utrn
|
APN |
10 |
12421608 |
missense |
possibly damaging |
0.91 |
IGL02494:Utrn
|
APN |
10 |
12710054 |
missense |
probably benign |
|
IGL02631:Utrn
|
APN |
10 |
12710063 |
missense |
probably benign |
0.00 |
IGL02729:Utrn
|
APN |
10 |
12720810 |
unclassified |
probably benign |
|
IGL02736:Utrn
|
APN |
10 |
12421640 |
missense |
probably damaging |
1.00 |
IGL02832:Utrn
|
APN |
10 |
12738193 |
missense |
possibly damaging |
0.82 |
IGL02926:Utrn
|
APN |
10 |
12690760 |
missense |
probably damaging |
0.96 |
IGL03184:Utrn
|
APN |
10 |
12710166 |
missense |
probably benign |
0.04 |
IGL03194:Utrn
|
APN |
10 |
12406429 |
splice site |
probably benign |
|
IGL03346:Utrn
|
APN |
10 |
12525352 |
missense |
probably benign |
0.22 |
retiring
|
UTSW |
10 |
12641020 |
missense |
probably damaging |
1.00 |
shrinking_violet
|
UTSW |
10 |
12711585 |
critical splice acceptor site |
probably null |
|
Wallflower
|
UTSW |
10 |
12747975 |
missense |
probably damaging |
1.00 |
FR4548:Utrn
|
UTSW |
10 |
12633941 |
critical splice donor site |
probably benign |
|
I2288:Utrn
|
UTSW |
10 |
12421640 |
missense |
probably damaging |
1.00 |
PIT4677001:Utrn
|
UTSW |
10 |
12666704 |
missense |
probably benign |
0.06 |
R0022:Utrn
|
UTSW |
10 |
12709956 |
splice site |
probably benign |
|
R0024:Utrn
|
UTSW |
10 |
12406011 |
missense |
probably benign |
0.00 |
R0024:Utrn
|
UTSW |
10 |
12406011 |
missense |
probably benign |
0.00 |
R0026:Utrn
|
UTSW |
10 |
12726196 |
splice site |
probably benign |
|
R0026:Utrn
|
UTSW |
10 |
12726196 |
splice site |
probably benign |
|
R0091:Utrn
|
UTSW |
10 |
12735204 |
missense |
probably damaging |
1.00 |
R0112:Utrn
|
UTSW |
10 |
12686465 |
nonsense |
probably null |
|
R0126:Utrn
|
UTSW |
10 |
12711475 |
missense |
probably benign |
0.02 |
R0184:Utrn
|
UTSW |
10 |
12667618 |
missense |
probably benign |
|
R0219:Utrn
|
UTSW |
10 |
12684451 |
missense |
probably damaging |
1.00 |
R0369:Utrn
|
UTSW |
10 |
12634022 |
missense |
probably benign |
0.37 |
R0390:Utrn
|
UTSW |
10 |
12710060 |
missense |
probably benign |
0.05 |
R0391:Utrn
|
UTSW |
10 |
12525333 |
splice site |
probably benign |
|
R0408:Utrn
|
UTSW |
10 |
12384190 |
makesense |
probably null |
|
R0409:Utrn
|
UTSW |
10 |
12643601 |
missense |
probably benign |
0.01 |
R0441:Utrn
|
UTSW |
10 |
12688294 |
missense |
probably null |
0.88 |
R0504:Utrn
|
UTSW |
10 |
12402895 |
missense |
probably benign |
0.02 |
R0730:Utrn
|
UTSW |
10 |
12698158 |
splice site |
probably benign |
|
R1078:Utrn
|
UTSW |
10 |
12455566 |
critical splice acceptor site |
probably null |
|
R1171:Utrn
|
UTSW |
10 |
12481308 |
missense |
probably damaging |
0.99 |
R1191:Utrn
|
UTSW |
10 |
12634033 |
missense |
probably benign |
0.02 |
R1203:Utrn
|
UTSW |
10 |
12486537 |
missense |
probably damaging |
1.00 |
R1401:Utrn
|
UTSW |
10 |
12649153 |
missense |
probably benign |
|
R1418:Utrn
|
UTSW |
10 |
12713350 |
missense |
probably benign |
|
R1439:Utrn
|
UTSW |
10 |
12744049 |
missense |
possibly damaging |
0.79 |
R1441:Utrn
|
UTSW |
10 |
12683295 |
missense |
probably damaging |
0.97 |
R1445:Utrn
|
UTSW |
10 |
12678574 |
splice site |
probably benign |
|
R1509:Utrn
|
UTSW |
10 |
12455441 |
missense |
possibly damaging |
0.91 |
R1546:Utrn
|
UTSW |
10 |
12436364 |
missense |
probably damaging |
1.00 |
R1585:Utrn
|
UTSW |
10 |
12436285 |
missense |
possibly damaging |
0.62 |
R1621:Utrn
|
UTSW |
10 |
12713283 |
missense |
probably benign |
0.24 |
R1637:Utrn
|
UTSW |
10 |
12436364 |
missense |
probably damaging |
1.00 |
R1703:Utrn
|
UTSW |
10 |
12727729 |
splice site |
probably benign |
|
R1725:Utrn
|
UTSW |
10 |
12663519 |
missense |
probably damaging |
0.99 |
R1735:Utrn
|
UTSW |
10 |
12710138 |
missense |
probably benign |
|
R1770:Utrn
|
UTSW |
10 |
12475296 |
missense |
probably damaging |
0.98 |
R1778:Utrn
|
UTSW |
10 |
12436364 |
missense |
probably damaging |
1.00 |
R1783:Utrn
|
UTSW |
10 |
12463339 |
missense |
probably damaging |
1.00 |
R1818:Utrn
|
UTSW |
10 |
12709964 |
critical splice donor site |
probably null |
|
R1829:Utrn
|
UTSW |
10 |
12475274 |
missense |
probably damaging |
1.00 |
R1919:Utrn
|
UTSW |
10 |
12455480 |
missense |
probably benign |
0.15 |
R1964:Utrn
|
UTSW |
10 |
12684437 |
missense |
probably damaging |
1.00 |
R2080:Utrn
|
UTSW |
10 |
12737082 |
missense |
probably benign |
0.36 |
R2092:Utrn
|
UTSW |
10 |
12678698 |
missense |
probably benign |
0.12 |
R2107:Utrn
|
UTSW |
10 |
12436364 |
missense |
probably damaging |
1.00 |
R2108:Utrn
|
UTSW |
10 |
12436364 |
missense |
probably damaging |
1.00 |
R2760:Utrn
|
UTSW |
10 |
12690878 |
missense |
probably damaging |
1.00 |
R2884:Utrn
|
UTSW |
10 |
12739361 |
splice site |
probably null |
|
R2885:Utrn
|
UTSW |
10 |
12739361 |
splice site |
probably null |
|
R2886:Utrn
|
UTSW |
10 |
12739361 |
splice site |
probably null |
|
R2903:Utrn
|
UTSW |
10 |
12643428 |
missense |
probably damaging |
1.00 |
R2944:Utrn
|
UTSW |
10 |
12643419 |
missense |
probably damaging |
1.00 |
R2945:Utrn
|
UTSW |
10 |
12486391 |
missense |
possibly damaging |
0.50 |
R3438:Utrn
|
UTSW |
10 |
12481318 |
missense |
probably damaging |
0.98 |
R3683:Utrn
|
UTSW |
10 |
12666835 |
missense |
probably benign |
0.10 |
R3735:Utrn
|
UTSW |
10 |
12478484 |
missense |
probably damaging |
1.00 |
R3907:Utrn
|
UTSW |
10 |
12710182 |
splice site |
probably benign |
|
R3923:Utrn
|
UTSW |
10 |
12739479 |
missense |
probably benign |
0.23 |
R3925:Utrn
|
UTSW |
10 |
12698042 |
missense |
probably benign |
|
R3926:Utrn
|
UTSW |
10 |
12698042 |
missense |
probably benign |
|
R3938:Utrn
|
UTSW |
10 |
12750030 |
critical splice donor site |
probably null |
|
R3941:Utrn
|
UTSW |
10 |
12711585 |
critical splice acceptor site |
probably null |
|
R3958:Utrn
|
UTSW |
10 |
12750108 |
missense |
probably damaging |
1.00 |
R4091:Utrn
|
UTSW |
10 |
12710171 |
missense |
probably benign |
0.10 |
R4454:Utrn
|
UTSW |
10 |
12727840 |
missense |
possibly damaging |
0.81 |
R4585:Utrn
|
UTSW |
10 |
12688306 |
missense |
probably benign |
0.01 |
R4667:Utrn
|
UTSW |
10 |
12698053 |
missense |
probably benign |
0.22 |
R4684:Utrn
|
UTSW |
10 |
12745240 |
missense |
probably damaging |
1.00 |
R4782:Utrn
|
UTSW |
10 |
12750069 |
missense |
probably damaging |
1.00 |
R4785:Utrn
|
UTSW |
10 |
12654745 |
missense |
probably benign |
0.39 |
R4799:Utrn
|
UTSW |
10 |
12750069 |
missense |
probably damaging |
1.00 |
R4829:Utrn
|
UTSW |
10 |
12663461 |
missense |
probably benign |
0.00 |
R4878:Utrn
|
UTSW |
10 |
12727758 |
missense |
probably damaging |
1.00 |
R4955:Utrn
|
UTSW |
10 |
12861567 |
critical splice donor site |
probably null |
|
R4967:Utrn
|
UTSW |
10 |
12455420 |
missense |
probably damaging |
0.99 |
R5071:Utrn
|
UTSW |
10 |
12384204 |
splice site |
probably null |
|
R5072:Utrn
|
UTSW |
10 |
12384204 |
splice site |
probably null |
|
R5186:Utrn
|
UTSW |
10 |
12728777 |
missense |
probably damaging |
1.00 |
R5213:Utrn
|
UTSW |
10 |
12636760 |
missense |
probably damaging |
1.00 |
R5296:Utrn
|
UTSW |
10 |
12401355 |
missense |
probably damaging |
1.00 |
R5309:Utrn
|
UTSW |
10 |
12727769 |
missense |
probably damaging |
1.00 |
R5312:Utrn
|
UTSW |
10 |
12727769 |
missense |
probably damaging |
1.00 |
R5399:Utrn
|
UTSW |
10 |
12640983 |
missense |
probably damaging |
1.00 |
R5407:Utrn
|
UTSW |
10 |
12680625 |
missense |
probably damaging |
1.00 |
R5411:Utrn
|
UTSW |
10 |
12649185 |
missense |
probably benign |
|
R5428:Utrn
|
UTSW |
10 |
12693431 |
missense |
probably benign |
0.09 |
R5595:Utrn
|
UTSW |
10 |
12682318 |
missense |
possibly damaging |
0.89 |
R5602:Utrn
|
UTSW |
10 |
12750095 |
missense |
probably damaging |
1.00 |
R5608:Utrn
|
UTSW |
10 |
12671837 |
missense |
probably benign |
0.00 |
R5678:Utrn
|
UTSW |
10 |
12442018 |
missense |
probably damaging |
1.00 |
R5726:Utrn
|
UTSW |
10 |
12669806 |
missense |
probably benign |
|
R5804:Utrn
|
UTSW |
10 |
12421625 |
missense |
probably damaging |
1.00 |
R5916:Utrn
|
UTSW |
10 |
12665051 |
missense |
probably damaging |
0.97 |
R5941:Utrn
|
UTSW |
10 |
12486483 |
missense |
probably damaging |
1.00 |
R6014:Utrn
|
UTSW |
10 |
12690876 |
missense |
probably benign |
0.01 |
R6015:Utrn
|
UTSW |
10 |
12478424 |
missense |
possibly damaging |
0.85 |
R6028:Utrn
|
UTSW |
10 |
12654716 |
missense |
probably benign |
0.00 |
R6158:Utrn
|
UTSW |
10 |
12690822 |
missense |
probably benign |
0.04 |
R6181:Utrn
|
UTSW |
10 |
12739456 |
missense |
probably damaging |
1.00 |
R6300:Utrn
|
UTSW |
10 |
12501476 |
missense |
probably benign |
0.35 |
R6367:Utrn
|
UTSW |
10 |
12747975 |
missense |
probably damaging |
1.00 |
R6377:Utrn
|
UTSW |
10 |
12744083 |
missense |
probably damaging |
1.00 |
R6434:Utrn
|
UTSW |
10 |
12525427 |
missense |
probably damaging |
1.00 |
R6498:Utrn
|
UTSW |
10 |
12442093 |
missense |
probably benign |
|
R6579:Utrn
|
UTSW |
10 |
12748006 |
missense |
probably benign |
0.05 |
R6704:Utrn
|
UTSW |
10 |
12745291 |
missense |
probably damaging |
0.99 |
R6736:Utrn
|
UTSW |
10 |
12621303 |
missense |
probably benign |
0.09 |
R6755:Utrn
|
UTSW |
10 |
12699087 |
missense |
probably benign |
0.00 |
R6793:Utrn
|
UTSW |
10 |
12640925 |
critical splice donor site |
probably null |
|
R6793:Utrn
|
UTSW |
10 |
12699100 |
missense |
possibly damaging |
0.69 |
R6835:Utrn
|
UTSW |
10 |
12727764 |
missense |
probably damaging |
1.00 |
R6919:Utrn
|
UTSW |
10 |
12693470 |
nonsense |
probably null |
|
R6920:Utrn
|
UTSW |
10 |
12750470 |
missense |
probably damaging |
0.98 |
R7037:Utrn
|
UTSW |
10 |
12826770 |
splice site |
probably null |
|
R7038:Utrn
|
UTSW |
10 |
12682338 |
missense |
probably damaging |
1.00 |
R7055:Utrn
|
UTSW |
10 |
12747921 |
missense |
probably benign |
0.23 |
R7072:Utrn
|
UTSW |
10 |
12465213 |
missense |
probably damaging |
1.00 |
R7090:Utrn
|
UTSW |
10 |
12684516 |
missense |
possibly damaging |
0.58 |
R7211:Utrn
|
UTSW |
10 |
12401335 |
missense |
possibly damaging |
0.72 |
R7248:Utrn
|
UTSW |
10 |
12728818 |
missense |
possibly damaging |
0.51 |
R7305:Utrn
|
UTSW |
10 |
12385536 |
missense |
probably benign |
|
R7334:Utrn
|
UTSW |
10 |
12728009 |
splice site |
probably null |
|
R7348:Utrn
|
UTSW |
10 |
12748018 |
missense |
probably damaging |
1.00 |
R7375:Utrn
|
UTSW |
10 |
12641020 |
missense |
probably damaging |
1.00 |
R7436:Utrn
|
UTSW |
10 |
12439791 |
missense |
possibly damaging |
0.72 |
R7476:Utrn
|
UTSW |
10 |
12640951 |
missense |
probably benign |
|
R7514:Utrn
|
UTSW |
10 |
12698089 |
missense |
probably benign |
0.00 |
R7527:Utrn
|
UTSW |
10 |
12401382 |
missense |
possibly damaging |
0.81 |
R7735:Utrn
|
UTSW |
10 |
12744043 |
critical splice donor site |
probably null |
|
R7748:Utrn
|
UTSW |
10 |
12614508 |
missense |
probably benign |
0.01 |
R7778:Utrn
|
UTSW |
10 |
12486610 |
missense |
probably damaging |
1.00 |
R7824:Utrn
|
UTSW |
10 |
12486610 |
missense |
probably damaging |
1.00 |
R7826:Utrn
|
UTSW |
10 |
12401306 |
splice site |
probably null |
|
R7872:Utrn
|
UTSW |
10 |
12698129 |
missense |
probably benign |
|
R7915:Utrn
|
UTSW |
10 |
12465212 |
missense |
probably damaging |
1.00 |
R7922:Utrn
|
UTSW |
10 |
12667527 |
missense |
possibly damaging |
0.68 |
R8081:Utrn
|
UTSW |
10 |
12548059 |
start gained |
probably benign |
|
R8132:Utrn
|
UTSW |
10 |
12682410 |
missense |
probably damaging |
0.99 |
R8167:Utrn
|
UTSW |
10 |
12671814 |
nonsense |
probably null |
|
R8186:Utrn
|
UTSW |
10 |
12698123 |
missense |
probably benign |
|
R8331:Utrn
|
UTSW |
10 |
12614619 |
missense |
probably benign |
0.00 |
R8352:Utrn
|
UTSW |
10 |
12813509 |
missense |
probably benign |
0.34 |
R8408:Utrn
|
UTSW |
10 |
12670143 |
missense |
possibly damaging |
0.69 |
R8452:Utrn
|
UTSW |
10 |
12813509 |
missense |
probably benign |
0.34 |
R8478:Utrn
|
UTSW |
10 |
12649148 |
missense |
probably benign |
|
R8489:Utrn
|
UTSW |
10 |
12711446 |
missense |
probably benign |
0.05 |
R8516:Utrn
|
UTSW |
10 |
12486510 |
missense |
probably damaging |
0.99 |
R8520:Utrn
|
UTSW |
10 |
12670186 |
nonsense |
probably null |
|
R8550:Utrn
|
UTSW |
10 |
12813585 |
intron |
probably benign |
|
R8856:Utrn
|
UTSW |
10 |
12667607 |
missense |
probably benign |
|
R8881:Utrn
|
UTSW |
10 |
12547993 |
missense |
possibly damaging |
0.46 |
R9180:Utrn
|
UTSW |
10 |
12669719 |
missense |
probably damaging |
1.00 |
R9186:Utrn
|
UTSW |
10 |
12614574 |
missense |
probably benign |
|
R9216:Utrn
|
UTSW |
10 |
12813485 |
missense |
probably benign |
0.19 |
R9251:Utrn
|
UTSW |
10 |
12636787 |
missense |
probably benign |
0.01 |
R9273:Utrn
|
UTSW |
10 |
12633963 |
missense |
probably damaging |
0.97 |
R9307:Utrn
|
UTSW |
10 |
12678731 |
missense |
probably benign |
0.02 |
R9344:Utrn
|
UTSW |
10 |
12684531 |
missense |
probably benign |
0.17 |
R9419:Utrn
|
UTSW |
10 |
12688381 |
missense |
probably damaging |
1.00 |
R9435:Utrn
|
UTSW |
10 |
12643429 |
missense |
probably damaging |
1.00 |
RF009:Utrn
|
UTSW |
10 |
12633945 |
nonsense |
probably null |
|
V1662:Utrn
|
UTSW |
10 |
12421640 |
missense |
probably damaging |
1.00 |
X0018:Utrn
|
UTSW |
10 |
12735198 |
missense |
probably damaging |
1.00 |
Z1176:Utrn
|
UTSW |
10 |
12682360 |
nonsense |
probably null |
|
Z1176:Utrn
|
UTSW |
10 |
12688429 |
critical splice acceptor site |
probably null |
|
Z1177:Utrn
|
UTSW |
10 |
12525406 |
nonsense |
probably null |
|
Z1177:Utrn
|
UTSW |
10 |
12621379 |
missense |
probably benign |
0.17 |
Z1186:Utrn
|
UTSW |
10 |
12669747 |
missense |
probably damaging |
1.00 |
Z1189:Utrn
|
UTSW |
10 |
12669747 |
missense |
probably damaging |
1.00 |
Z1191:Utrn
|
UTSW |
10 |
12669747 |
missense |
probably damaging |
1.00 |
Z1192:Utrn
|
UTSW |
10 |
12669747 |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-04-17 |