Incidental Mutation 'IGL00755:Reln'
ID |
13802 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Reln
|
Ensembl Gene |
ENSMUSG00000042453 |
Gene Name |
reelin |
Synonyms |
|
Accession Numbers |
|
Is this an essential gene? |
Probably essential
(E-score: 0.958)
|
Stock # |
IGL00755
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
21884454-22344702 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 22060380 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 438
(V438A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124052
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062372]
[ENSMUST00000161356]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062372
AA Change: V438A
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000058025 Gene: ENSMUSG00000042453 AA Change: V438A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Pfam:Reeler
|
40 |
172 |
6.1e-24 |
PFAM |
internal_repeat_3
|
195 |
360 |
5.04e-6 |
PROSPERO |
EGF
|
674 |
702 |
1.2e1 |
SMART |
EGF_like
|
1033 |
1061 |
6.95e1 |
SMART |
EGF
|
1412 |
1442 |
6.02e0 |
SMART |
EGF_like
|
1768 |
1796 |
2.92e1 |
SMART |
low complexity region
|
1939 |
1948 |
N/A |
INTRINSIC |
low complexity region
|
2062 |
2071 |
N/A |
INTRINSIC |
EGF
|
2132 |
2161 |
1.43e-1 |
SMART |
EGF_like
|
2481 |
2509 |
3.43e1 |
SMART |
EGF
|
2856 |
2884 |
2.2e1 |
SMART |
EGF
|
3231 |
3260 |
3.46e0 |
SMART |
low complexity region
|
3450 |
3457 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161356
AA Change: V438A
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124052 Gene: ENSMUSG00000042453 AA Change: V438A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Pfam:Reeler
|
54 |
171 |
2.9e-10 |
PFAM |
internal_repeat_3
|
195 |
360 |
5.06e-6 |
PROSPERO |
internal_repeat_2
|
207 |
413 |
3.41e-11 |
PROSPERO |
EGF
|
674 |
702 |
1.2e1 |
SMART |
EGF_like
|
1033 |
1061 |
6.95e1 |
SMART |
EGF
|
1412 |
1442 |
6.02e0 |
SMART |
internal_repeat_2
|
1452 |
1660 |
3.41e-11 |
PROSPERO |
EGF_like
|
1768 |
1796 |
2.92e1 |
SMART |
low complexity region
|
1939 |
1948 |
N/A |
INTRINSIC |
low complexity region
|
2062 |
2071 |
N/A |
INTRINSIC |
EGF
|
2132 |
2161 |
1.43e-1 |
SMART |
EGF_like
|
2481 |
2509 |
3.43e1 |
SMART |
EGF
|
2856 |
2884 |
2.2e1 |
SMART |
EGF
|
3231 |
3260 |
3.46e0 |
SMART |
low complexity region
|
3452 |
3459 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162427
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162876
|
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 encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility. [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 |
Abca13 |
A |
G |
11: 9,542,102 |
Y4381C |
possibly damaging |
Het |
Card6 |
G |
A |
15: 5,098,941 |
T991I |
possibly damaging |
Het |
Cd163 |
A |
G |
6: 124,318,657 |
N684S |
possibly damaging |
Het |
Cep290 |
A |
G |
10: 100,531,104 |
T1106A |
probably damaging |
Het |
Cplx4 |
T |
A |
18: 65,957,095 |
|
probably benign |
Het |
Crygd |
C |
T |
1: 65,062,091 |
R115Q |
probably benign |
Het |
Dnah6 |
A |
T |
6: 73,212,434 |
|
probably null |
Het |
Dock8 |
A |
G |
19: 25,051,509 |
K26E |
probably benign |
Het |
Fancl |
G |
A |
11: 26,470,916 |
V349I |
probably benign |
Het |
Gsg1l |
A |
G |
7: 125,923,426 |
F210S |
possibly damaging |
Het |
Mboat2 |
T |
A |
12: 24,957,646 |
V419E |
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,194,621 |
V2327A |
possibly damaging |
Het |
Ndnf |
C |
T |
6: 65,703,258 |
P174S |
probably damaging |
Het |
Nlrp9b |
A |
T |
7: 20,023,522 |
D228V |
probably damaging |
Het |
Prps2 |
A |
T |
X: 167,374,142 |
I56N |
possibly damaging |
Het |
Rmdn1 |
T |
A |
4: 19,580,401 |
N42K |
probably benign |
Het |
Sass6 |
G |
A |
3: 116,618,328 |
E312K |
probably damaging |
Het |
Scrn1 |
T |
A |
6: 54,520,709 |
D299V |
possibly damaging |
Het |
Slk |
T |
A |
19: 47,609,010 |
C86S |
probably damaging |
Het |
Veph1 |
C |
T |
3: 66,255,010 |
E76K |
probably damaging |
Het |
Zfp282 |
C |
T |
6: 47,880,390 |
P186S |
probably damaging |
Het |
|
Other mutations in Reln |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00090:Reln
|
APN |
5 |
22039565 |
missense |
possibly damaging |
0.57 |
IGL00091:Reln
|
APN |
5 |
22039565 |
missense |
possibly damaging |
0.57 |
IGL00432:Reln
|
APN |
5 |
22010127 |
missense |
probably damaging |
1.00 |
IGL00433:Reln
|
APN |
5 |
22045009 |
missense |
probably damaging |
1.00 |
IGL00576:Reln
|
APN |
5 |
22154950 |
missense |
probably benign |
0.01 |
IGL00777:Reln
|
APN |
5 |
22018850 |
critical splice donor site |
probably null |
|
IGL00900:Reln
|
APN |
5 |
21980117 |
missense |
probably damaging |
0.98 |
IGL01067:Reln
|
APN |
5 |
21979666 |
missense |
probably damaging |
1.00 |
IGL01104:Reln
|
APN |
5 |
21986967 |
missense |
probably damaging |
0.99 |
IGL01141:Reln
|
APN |
5 |
21969033 |
missense |
probably damaging |
1.00 |
IGL01141:Reln
|
APN |
5 |
21919069 |
missense |
probably damaging |
1.00 |
IGL01333:Reln
|
APN |
5 |
22171251 |
missense |
probably damaging |
0.99 |
IGL01341:Reln
|
APN |
5 |
21969079 |
missense |
probably damaging |
1.00 |
IGL01354:Reln
|
APN |
5 |
21919175 |
nonsense |
probably null |
|
IGL01361:Reln
|
APN |
5 |
21919021 |
missense |
probably benign |
0.06 |
IGL01446:Reln
|
APN |
5 |
21969317 |
missense |
probably damaging |
0.99 |
IGL01448:Reln
|
APN |
5 |
22040405 |
missense |
probably benign |
0.40 |
IGL01612:Reln
|
APN |
5 |
21896930 |
missense |
probably damaging |
0.99 |
IGL01695:Reln
|
APN |
5 |
21920438 |
missense |
probably damaging |
1.00 |
IGL01718:Reln
|
APN |
5 |
21947514 |
missense |
possibly damaging |
0.60 |
IGL01749:Reln
|
APN |
5 |
22344246 |
nonsense |
probably null |
|
IGL01875:Reln
|
APN |
5 |
21904717 |
missense |
probably benign |
|
IGL02013:Reln
|
APN |
5 |
21950879 |
missense |
probably damaging |
1.00 |
IGL02031:Reln
|
APN |
5 |
21979016 |
missense |
probably damaging |
0.99 |
IGL02186:Reln
|
APN |
5 |
21909958 |
missense |
probably damaging |
1.00 |
IGL02228:Reln
|
APN |
5 |
21904731 |
missense |
probably damaging |
0.99 |
IGL02248:Reln
|
APN |
5 |
21910992 |
missense |
probably damaging |
1.00 |
IGL02336:Reln
|
APN |
5 |
21929134 |
missense |
probably damaging |
1.00 |
IGL02352:Reln
|
APN |
5 |
22039565 |
missense |
possibly damaging |
0.57 |
IGL02359:Reln
|
APN |
5 |
22039565 |
missense |
possibly damaging |
0.57 |
IGL02376:Reln
|
APN |
5 |
22080791 |
nonsense |
probably null |
|
IGL02408:Reln
|
APN |
5 |
21901619 |
missense |
probably benign |
0.44 |
IGL02415:Reln
|
APN |
5 |
21971951 |
missense |
possibly damaging |
0.91 |
IGL02512:Reln
|
APN |
5 |
22040427 |
missense |
probably benign |
0.00 |
IGL02540:Reln
|
APN |
5 |
22034752 |
missense |
probably damaging |
0.96 |
IGL02624:Reln
|
APN |
5 |
22103357 |
missense |
probably benign |
0.09 |
IGL02720:Reln
|
APN |
5 |
21997941 |
missense |
probably damaging |
0.99 |
IGL02894:Reln
|
APN |
5 |
21885548 |
missense |
possibly damaging |
0.72 |
IGL02999:Reln
|
APN |
5 |
21995365 |
missense |
probably damaging |
1.00 |
IGL03125:Reln
|
APN |
5 |
21910844 |
missense |
probably damaging |
1.00 |
IGL03298:Reln
|
APN |
5 |
21910836 |
missense |
probably damaging |
0.99 |
Fishing
|
UTSW |
5 |
21896841 |
missense |
probably damaging |
1.00 |
P0020:Reln
|
UTSW |
5 |
22106060 |
missense |
possibly damaging |
0.91 |
PIT4151001:Reln
|
UTSW |
5 |
22286896 |
missense |
possibly damaging |
0.71 |
R0018:Reln
|
UTSW |
5 |
21925371 |
missense |
probably benign |
0.01 |
R0105:Reln
|
UTSW |
5 |
22048815 |
missense |
probably damaging |
0.99 |
R0105:Reln
|
UTSW |
5 |
22048815 |
missense |
probably damaging |
0.99 |
R0127:Reln
|
UTSW |
5 |
22004136 |
missense |
probably damaging |
1.00 |
R0135:Reln
|
UTSW |
5 |
22128649 |
missense |
probably damaging |
0.99 |
R0144:Reln
|
UTSW |
5 |
21948449 |
missense |
probably damaging |
0.97 |
R0240:Reln
|
UTSW |
5 |
22106045 |
missense |
probably benign |
0.36 |
R0240:Reln
|
UTSW |
5 |
22106045 |
missense |
probably benign |
0.36 |
R0242:Reln
|
UTSW |
5 |
21942597 |
critical splice donor site |
probably null |
|
R0242:Reln
|
UTSW |
5 |
21942597 |
critical splice donor site |
probably null |
|
R0266:Reln
|
UTSW |
5 |
21988776 |
missense |
probably damaging |
1.00 |
R0269:Reln
|
UTSW |
5 |
21920537 |
missense |
probably damaging |
1.00 |
R0280:Reln
|
UTSW |
5 |
22227513 |
splice site |
probably benign |
|
R0333:Reln
|
UTSW |
5 |
21929242 |
missense |
probably damaging |
0.97 |
R0357:Reln
|
UTSW |
5 |
21950822 |
missense |
probably damaging |
1.00 |
R0359:Reln
|
UTSW |
5 |
22048800 |
missense |
probably damaging |
0.98 |
R0506:Reln
|
UTSW |
5 |
21920496 |
missense |
probably damaging |
0.97 |
R0534:Reln
|
UTSW |
5 |
21947408 |
missense |
probably damaging |
0.99 |
R0535:Reln
|
UTSW |
5 |
22051276 |
splice site |
probably benign |
|
R0541:Reln
|
UTSW |
5 |
21980109 |
missense |
possibly damaging |
0.88 |
R0615:Reln
|
UTSW |
5 |
22010150 |
missense |
probably benign |
0.36 |
R0617:Reln
|
UTSW |
5 |
21920537 |
missense |
probably damaging |
1.00 |
R0634:Reln
|
UTSW |
5 |
22018869 |
missense |
probably damaging |
1.00 |
R0653:Reln
|
UTSW |
5 |
21913230 |
missense |
probably benign |
0.44 |
R0704:Reln
|
UTSW |
5 |
21896811 |
missense |
probably damaging |
0.99 |
R0706:Reln
|
UTSW |
5 |
21896811 |
missense |
probably damaging |
0.99 |
R0959:Reln
|
UTSW |
5 |
22227628 |
missense |
probably damaging |
0.96 |
R1066:Reln
|
UTSW |
5 |
22034664 |
missense |
probably damaging |
1.00 |
R1110:Reln
|
UTSW |
5 |
22034775 |
missense |
probably benign |
|
R1163:Reln
|
UTSW |
5 |
21899029 |
missense |
probably benign |
0.03 |
R1222:Reln
|
UTSW |
5 |
21986955 |
missense |
probably null |
0.97 |
R1226:Reln
|
UTSW |
5 |
21910866 |
missense |
probably damaging |
1.00 |
R1440:Reln
|
UTSW |
5 |
22128602 |
splice site |
probably benign |
|
R1532:Reln
|
UTSW |
5 |
22034744 |
missense |
probably damaging |
0.99 |
R1552:Reln
|
UTSW |
5 |
21960378 |
missense |
probably benign |
0.01 |
R1565:Reln
|
UTSW |
5 |
21925213 |
missense |
probably benign |
0.05 |
R1618:Reln
|
UTSW |
5 |
22060368 |
missense |
probably benign |
0.01 |
R1636:Reln
|
UTSW |
5 |
21998683 |
missense |
probably damaging |
0.99 |
R1664:Reln
|
UTSW |
5 |
21929086 |
missense |
probably damaging |
1.00 |
R1716:Reln
|
UTSW |
5 |
21955095 |
missense |
probably damaging |
0.98 |
R1759:Reln
|
UTSW |
5 |
22010289 |
missense |
probably damaging |
0.99 |
R1835:Reln
|
UTSW |
5 |
21979002 |
missense |
probably damaging |
1.00 |
R1907:Reln
|
UTSW |
5 |
22044962 |
critical splice donor site |
probably null |
|
R1991:Reln
|
UTSW |
5 |
21969360 |
missense |
possibly damaging |
0.56 |
R2046:Reln
|
UTSW |
5 |
21942627 |
missense |
probably benign |
0.01 |
R2072:Reln
|
UTSW |
5 |
21919177 |
missense |
probably damaging |
1.00 |
R2103:Reln
|
UTSW |
5 |
21969360 |
missense |
possibly damaging |
0.56 |
R2119:Reln
|
UTSW |
5 |
22019000 |
missense |
probably damaging |
1.00 |
R2120:Reln
|
UTSW |
5 |
21969085 |
missense |
probably damaging |
1.00 |
R2216:Reln
|
UTSW |
5 |
22048005 |
missense |
probably benign |
0.30 |
R2219:Reln
|
UTSW |
5 |
21972047 |
missense |
possibly damaging |
0.88 |
R2228:Reln
|
UTSW |
5 |
21987078 |
missense |
possibly damaging |
0.69 |
R2306:Reln
|
UTSW |
5 |
21896786 |
missense |
probably damaging |
1.00 |
R2316:Reln
|
UTSW |
5 |
22154956 |
missense |
probably benign |
0.00 |
R2321:Reln
|
UTSW |
5 |
21915020 |
missense |
probably damaging |
0.99 |
R2512:Reln
|
UTSW |
5 |
21979690 |
missense |
possibly damaging |
0.89 |
R2519:Reln
|
UTSW |
5 |
22344369 |
missense |
unknown |
|
R2870:Reln
|
UTSW |
5 |
22049791 |
missense |
possibly damaging |
0.95 |
R2870:Reln
|
UTSW |
5 |
22049791 |
missense |
possibly damaging |
0.95 |
R2871:Reln
|
UTSW |
5 |
22049791 |
missense |
possibly damaging |
0.95 |
R2871:Reln
|
UTSW |
5 |
22049791 |
missense |
possibly damaging |
0.95 |
R2872:Reln
|
UTSW |
5 |
22049791 |
missense |
possibly damaging |
0.95 |
R2872:Reln
|
UTSW |
5 |
22049791 |
missense |
possibly damaging |
0.95 |
R3195:Reln
|
UTSW |
5 |
22040420 |
missense |
possibly damaging |
0.72 |
R3545:Reln
|
UTSW |
5 |
22227600 |
missense |
possibly damaging |
0.64 |
R3546:Reln
|
UTSW |
5 |
22227600 |
missense |
possibly damaging |
0.64 |
R3547:Reln
|
UTSW |
5 |
22227600 |
missense |
possibly damaging |
0.64 |
R3706:Reln
|
UTSW |
5 |
21995589 |
splice site |
probably benign |
|
R3713:Reln
|
UTSW |
5 |
21904734 |
missense |
probably damaging |
0.99 |
R3770:Reln
|
UTSW |
5 |
21948566 |
missense |
probably damaging |
1.00 |
R3836:Reln
|
UTSW |
5 |
21911014 |
missense |
probably damaging |
1.00 |
R3887:Reln
|
UTSW |
5 |
21910849 |
missense |
possibly damaging |
0.92 |
R3972:Reln
|
UTSW |
5 |
21979001 |
missense |
probably damaging |
0.99 |
R3975:Reln
|
UTSW |
5 |
21995366 |
missense |
possibly damaging |
0.57 |
R4022:Reln
|
UTSW |
5 |
22227630 |
missense |
probably benign |
0.45 |
R4044:Reln
|
UTSW |
5 |
22128632 |
missense |
possibly damaging |
0.82 |
R4107:Reln
|
UTSW |
5 |
22034584 |
missense |
probably damaging |
1.00 |
R4297:Reln
|
UTSW |
5 |
21920487 |
missense |
probably damaging |
0.99 |
R4298:Reln
|
UTSW |
5 |
21920487 |
missense |
probably damaging |
0.99 |
R4299:Reln
|
UTSW |
5 |
21920487 |
missense |
probably damaging |
0.99 |
R4518:Reln
|
UTSW |
5 |
21901743 |
missense |
probably benign |
0.44 |
R4615:Reln
|
UTSW |
5 |
21972872 |
missense |
possibly damaging |
0.95 |
R4713:Reln
|
UTSW |
5 |
22152463 |
missense |
probably benign |
0.17 |
R4720:Reln
|
UTSW |
5 |
22286896 |
missense |
possibly damaging |
0.71 |
R4721:Reln
|
UTSW |
5 |
21919222 |
missense |
probably damaging |
0.99 |
R4771:Reln
|
UTSW |
5 |
22049700 |
missense |
probably damaging |
1.00 |
R4794:Reln
|
UTSW |
5 |
22344185 |
missense |
probably damaging |
0.98 |
R4840:Reln
|
UTSW |
5 |
22018846 |
splice site |
probably null |
|
R4860:Reln
|
UTSW |
5 |
21901751 |
missense |
probably benign |
0.06 |
R4860:Reln
|
UTSW |
5 |
21901751 |
missense |
probably benign |
0.06 |
R4896:Reln
|
UTSW |
5 |
21955238 |
missense |
probably damaging |
1.00 |
R4908:Reln
|
UTSW |
5 |
21979720 |
missense |
probably benign |
0.02 |
R4912:Reln
|
UTSW |
5 |
21925193 |
missense |
probably benign |
0.29 |
R4922:Reln
|
UTSW |
5 |
21995587 |
critical splice acceptor site |
probably null |
|
R4975:Reln
|
UTSW |
5 |
21960426 |
missense |
probably damaging |
1.00 |
R4976:Reln
|
UTSW |
5 |
21971870 |
missense |
probably benign |
0.05 |
R5020:Reln
|
UTSW |
5 |
22034638 |
missense |
probably damaging |
1.00 |
R5037:Reln
|
UTSW |
5 |
21948512 |
missense |
probably damaging |
1.00 |
R5082:Reln
|
UTSW |
5 |
21896077 |
missense |
probably benign |
0.00 |
R5119:Reln
|
UTSW |
5 |
21971870 |
missense |
probably benign |
0.05 |
R5125:Reln
|
UTSW |
5 |
21913241 |
missense |
possibly damaging |
0.78 |
R5137:Reln
|
UTSW |
5 |
21955181 |
missense |
probably damaging |
1.00 |
R5152:Reln
|
UTSW |
5 |
21948629 |
missense |
probably damaging |
1.00 |
R5154:Reln
|
UTSW |
5 |
21988765 |
missense |
probably damaging |
0.99 |
R5259:Reln
|
UTSW |
5 |
22103397 |
missense |
possibly damaging |
0.83 |
R5283:Reln
|
UTSW |
5 |
22011163 |
missense |
probably damaging |
1.00 |
R5386:Reln
|
UTSW |
5 |
22039529 |
missense |
probably benign |
|
R5400:Reln
|
UTSW |
5 |
21979714 |
missense |
probably damaging |
1.00 |
R5478:Reln
|
UTSW |
5 |
22004203 |
missense |
probably benign |
0.00 |
R5514:Reln
|
UTSW |
5 |
21971885 |
missense |
possibly damaging |
0.93 |
R5529:Reln
|
UTSW |
5 |
21932715 |
missense |
possibly damaging |
0.71 |
R5611:Reln
|
UTSW |
5 |
22039665 |
nonsense |
probably null |
|
R5648:Reln
|
UTSW |
5 |
21998572 |
missense |
probably benign |
0.04 |
R5649:Reln
|
UTSW |
5 |
21901625 |
missense |
probably benign |
0.33 |
R5744:Reln
|
UTSW |
5 |
22106083 |
missense |
probably null |
0.39 |
R5782:Reln
|
UTSW |
5 |
22018056 |
missense |
probably benign |
0.01 |
R5815:Reln
|
UTSW |
5 |
21947433 |
missense |
probably damaging |
0.99 |
R5838:Reln
|
UTSW |
5 |
21899113 |
missense |
probably damaging |
0.97 |
R6162:Reln
|
UTSW |
5 |
21911050 |
missense |
probably damaging |
1.00 |
R6219:Reln
|
UTSW |
5 |
21948596 |
missense |
probably damaging |
1.00 |
R6259:Reln
|
UTSW |
5 |
22060333 |
missense |
probably damaging |
0.99 |
R6279:Reln
|
UTSW |
5 |
21896841 |
missense |
probably damaging |
1.00 |
R6299:Reln
|
UTSW |
5 |
22286944 |
missense |
possibly damaging |
0.71 |
R6300:Reln
|
UTSW |
5 |
21896841 |
missense |
probably damaging |
1.00 |
R6314:Reln
|
UTSW |
5 |
22152484 |
nonsense |
probably null |
|
R6351:Reln
|
UTSW |
5 |
21901663 |
nonsense |
probably null |
|
R6369:Reln
|
UTSW |
5 |
22051361 |
missense |
probably benign |
0.03 |
R6371:Reln
|
UTSW |
5 |
21995513 |
missense |
probably benign |
|
R6374:Reln
|
UTSW |
5 |
22080714 |
missense |
probably benign |
0.06 |
R6425:Reln
|
UTSW |
5 |
21911020 |
nonsense |
probably null |
|
R6442:Reln
|
UTSW |
5 |
21932776 |
missense |
probably benign |
|
R6445:Reln
|
UTSW |
5 |
21919214 |
missense |
probably benign |
0.05 |
R6554:Reln
|
UTSW |
5 |
21896840 |
missense |
probably damaging |
1.00 |
R6641:Reln
|
UTSW |
5 |
21929134 |
missense |
probably damaging |
1.00 |
R6768:Reln
|
UTSW |
5 |
21978907 |
missense |
probably damaging |
0.99 |
R6859:Reln
|
UTSW |
5 |
22034570 |
missense |
probably damaging |
1.00 |
R6896:Reln
|
UTSW |
5 |
21899179 |
missense |
probably benign |
0.18 |
R6932:Reln
|
UTSW |
5 |
21985857 |
missense |
probably benign |
0.00 |
R6948:Reln
|
UTSW |
5 |
21972035 |
missense |
probably damaging |
1.00 |
R6959:Reln
|
UTSW |
5 |
21976564 |
missense |
probably damaging |
1.00 |
R7085:Reln
|
UTSW |
5 |
21915087 |
nonsense |
probably null |
|
R7091:Reln
|
UTSW |
5 |
21899029 |
missense |
probably null |
0.08 |
R7135:Reln
|
UTSW |
5 |
21976596 |
missense |
possibly damaging |
0.95 |
R7146:Reln
|
UTSW |
5 |
22106097 |
missense |
probably damaging |
0.97 |
R7167:Reln
|
UTSW |
5 |
21942620 |
missense |
probably damaging |
1.00 |
R7190:Reln
|
UTSW |
5 |
22047947 |
missense |
probably damaging |
1.00 |
R7256:Reln
|
UTSW |
5 |
21978923 |
missense |
probably benign |
0.03 |
R7393:Reln
|
UTSW |
5 |
21976351 |
missense |
probably damaging |
0.99 |
R7399:Reln
|
UTSW |
5 |
22051367 |
missense |
probably damaging |
0.99 |
R7400:Reln
|
UTSW |
5 |
21971934 |
missense |
probably damaging |
0.99 |
R7426:Reln
|
UTSW |
5 |
21971953 |
missense |
probably damaging |
1.00 |
R7463:Reln
|
UTSW |
5 |
22103435 |
missense |
probably damaging |
0.98 |
R7470:Reln
|
UTSW |
5 |
21942741 |
missense |
probably damaging |
0.99 |
R7473:Reln
|
UTSW |
5 |
21929127 |
missense |
probably benign |
0.25 |
R7501:Reln
|
UTSW |
5 |
22227638 |
missense |
possibly damaging |
0.91 |
R7542:Reln
|
UTSW |
5 |
21955181 |
missense |
probably damaging |
1.00 |
R7544:Reln
|
UTSW |
5 |
21976278 |
nonsense |
probably null |
|
R7588:Reln
|
UTSW |
5 |
21885568 |
missense |
probably benign |
0.03 |
R7631:Reln
|
UTSW |
5 |
21971935 |
missense |
probably damaging |
0.97 |
R7644:Reln
|
UTSW |
5 |
21978931 |
missense |
probably benign |
0.39 |
R7834:Reln
|
UTSW |
5 |
22039635 |
missense |
possibly damaging |
0.94 |
R7923:Reln
|
UTSW |
5 |
22134692 |
missense |
probably benign |
0.00 |
R7938:Reln
|
UTSW |
5 |
21950872 |
missense |
probably damaging |
0.97 |
R8006:Reln
|
UTSW |
5 |
21899084 |
nonsense |
probably null |
|
R8062:Reln
|
UTSW |
5 |
21971992 |
missense |
probably benign |
0.00 |
R8222:Reln
|
UTSW |
5 |
21931477 |
nonsense |
probably null |
|
R8266:Reln
|
UTSW |
5 |
22018087 |
missense |
possibly damaging |
0.62 |
R8267:Reln
|
UTSW |
5 |
22004112 |
missense |
probably damaging |
1.00 |
R8487:Reln
|
UTSW |
5 |
21899029 |
missense |
probably benign |
0.03 |
R8523:Reln
|
UTSW |
5 |
22004231 |
missense |
probably damaging |
1.00 |
R8751:Reln
|
UTSW |
5 |
21942674 |
missense |
probably benign |
0.37 |
R8801:Reln
|
UTSW |
5 |
21950856 |
missense |
possibly damaging |
0.94 |
R8802:Reln
|
UTSW |
5 |
21925259 |
missense |
probably damaging |
0.98 |
R8978:Reln
|
UTSW |
5 |
21885514 |
missense |
possibly damaging |
0.85 |
R8988:Reln
|
UTSW |
5 |
21899157 |
missense |
probably damaging |
0.97 |
R8995:Reln
|
UTSW |
5 |
21979579 |
missense |
probably benign |
0.00 |
R9022:Reln
|
UTSW |
5 |
21976615 |
missense |
possibly damaging |
0.66 |
R9042:Reln
|
UTSW |
5 |
22048038 |
missense |
probably damaging |
1.00 |
R9069:Reln
|
UTSW |
5 |
22011061 |
missense |
probably damaging |
1.00 |
R9089:Reln
|
UTSW |
5 |
21925200 |
missense |
probably benign |
0.01 |
R9126:Reln
|
UTSW |
5 |
21955196 |
missense |
probably damaging |
1.00 |
R9172:Reln
|
UTSW |
5 |
21950817 |
critical splice donor site |
probably null |
|
R9182:Reln
|
UTSW |
5 |
21901619 |
missense |
probably benign |
0.44 |
R9196:Reln
|
UTSW |
5 |
22152473 |
missense |
probably damaging |
1.00 |
R9211:Reln
|
UTSW |
5 |
22344202 |
nonsense |
probably null |
|
R9241:Reln
|
UTSW |
5 |
21969069 |
missense |
probably damaging |
0.99 |
R9244:Reln
|
UTSW |
5 |
21915153 |
missense |
probably damaging |
0.99 |
R9281:Reln
|
UTSW |
5 |
21948547 |
missense |
probably damaging |
1.00 |
R9295:Reln
|
UTSW |
5 |
22004211 |
missense |
possibly damaging |
0.95 |
R9303:Reln
|
UTSW |
5 |
21988707 |
missense |
possibly damaging |
0.95 |
R9303:Reln
|
UTSW |
5 |
22080691 |
missense |
probably benign |
0.01 |
R9309:Reln
|
UTSW |
5 |
21971868 |
missense |
probably benign |
0.37 |
R9338:Reln
|
UTSW |
5 |
21997939 |
missense |
probably damaging |
0.98 |
R9381:Reln
|
UTSW |
5 |
22344204 |
missense |
possibly damaging |
0.93 |
R9430:Reln
|
UTSW |
5 |
21915107 |
missense |
probably damaging |
1.00 |
R9509:Reln
|
UTSW |
5 |
22344200 |
missense |
possibly damaging |
0.93 |
R9515:Reln
|
UTSW |
5 |
21920510 |
missense |
possibly damaging |
0.46 |
Z1176:Reln
|
UTSW |
5 |
21979024 |
missense |
probably damaging |
1.00 |
Z1177:Reln
|
UTSW |
5 |
21969241 |
missense |
probably damaging |
0.96 |
Z1177:Reln
|
UTSW |
5 |
22004082 |
missense |
probably damaging |
0.96 |
Z1177:Reln
|
UTSW |
5 |
22154959 |
missense |
probably benign |
0.05 |
Z1177:Reln
|
UTSW |
5 |
22227636 |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |