Incidental Mutation 'IGL01669:Nedd9'
ID |
103427 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nedd9
|
Ensembl Gene |
ENSMUSG00000021365 |
Gene Name |
neural precursor cell expressed, developmentally down-regulated gene 9 |
Synonyms |
Cas-L, HEF1, CasL, E230025G09Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01669
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
41463392-41640836 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41492111 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 133
(V133A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021794]
[ENSMUST00000163623]
[ENSMUST00000224803]
|
AlphaFold |
O35177 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021794
AA Change: V133A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000021794 Gene: ENSMUSG00000021365 AA Change: V133A
Domain | Start | End | E-Value | Type |
SH3
|
6 |
64 |
3.78e-17 |
SMART |
internal_repeat_1
|
151 |
218 |
1.33e-7 |
PROSPERO |
low complexity region
|
368 |
396 |
N/A |
INTRINSIC |
Pfam:Serine_rich
|
403 |
561 |
3.2e-66 |
PFAM |
Pfam:DUF3513
|
611 |
828 |
1.4e-91 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163623
AA Change: V133A
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000125773 Gene: ENSMUSG00000021365 AA Change: V133A
Domain | Start | End | E-Value | Type |
SH3
|
6 |
64 |
3.78e-17 |
SMART |
internal_repeat_1
|
151 |
218 |
1.42e-7 |
PROSPERO |
low complexity region
|
368 |
396 |
N/A |
INTRINSIC |
Pfam:Serine_rich
|
403 |
559 |
2.7e-60 |
PFAM |
Pfam:DUF3513
|
618 |
827 |
1e-81 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224803
AA Change: V127A
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225053
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the CRK-associated substrates family. Members of this family are adhesion docking molecules that mediate protein-protein interactions for signal transduction pathways. This protein is a focal adhesion protein that acts as a scaffold to regulate signaling complexes important in cell attachment, migration and invasion as well as apoptosis and the cell cycle. This protein has also been reported to have a role in cancer metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] PHENOTYPE: Mice homozygous for one null allele exhibit impaired lymphocyte trafficking and a deficit of splenic marginal zone B cells. Mice homozygous for another null allele display impaired spatial learning and decreased hippocampal dendritic spine densities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl4 |
G |
T |
X: 141,126,184 (GRCm39) |
D313E |
probably damaging |
Het |
Aifm3 |
A |
C |
16: 17,321,405 (GRCm39) |
K453T |
probably benign |
Het |
Anks1b |
T |
C |
10: 90,733,100 (GRCm39) |
|
probably benign |
Het |
Arfgef1 |
T |
C |
1: 10,229,840 (GRCm39) |
D1287G |
probably damaging |
Het |
Bcl3 |
G |
A |
7: 19,546,416 (GRCm39) |
Q140* |
probably null |
Het |
Bnipl |
T |
G |
3: 95,150,045 (GRCm39) |
R316S |
probably damaging |
Het |
Cacna1i |
T |
A |
15: 80,275,958 (GRCm39) |
H1916Q |
probably benign |
Het |
Ccdc171 |
C |
T |
4: 83,599,432 (GRCm39) |
A749V |
probably damaging |
Het |
Ceacam18 |
G |
A |
7: 43,294,939 (GRCm39) |
G333E |
probably damaging |
Het |
Cul7 |
G |
T |
17: 46,969,641 (GRCm39) |
M969I |
possibly damaging |
Het |
Cylc2 |
A |
G |
4: 51,228,360 (GRCm39) |
T144A |
probably benign |
Het |
Cyp2c50 |
A |
T |
19: 40,086,495 (GRCm39) |
H294L |
probably damaging |
Het |
D430041D05Rik |
T |
C |
2: 104,085,306 (GRCm39) |
K1081R |
probably damaging |
Het |
D930020B18Rik |
A |
G |
10: 121,519,866 (GRCm39) |
K456R |
probably benign |
Het |
Drd2 |
A |
G |
9: 49,313,389 (GRCm39) |
N186S |
possibly damaging |
Het |
Fanci |
A |
T |
7: 79,098,925 (GRCm39) |
E1306D |
probably benign |
Het |
Fbxl21 |
T |
A |
13: 56,675,522 (GRCm39) |
|
probably benign |
Het |
Galk2 |
T |
A |
2: 125,729,807 (GRCm39) |
Y63N |
probably damaging |
Het |
Git2 |
T |
C |
5: 114,905,166 (GRCm39) |
D97G |
probably damaging |
Het |
Gm8258 |
T |
A |
5: 104,923,940 (GRCm39) |
|
noncoding transcript |
Het |
Irf4 |
G |
T |
13: 30,941,454 (GRCm39) |
S270I |
probably damaging |
Het |
Itgb3 |
C |
A |
11: 104,524,216 (GRCm39) |
|
probably benign |
Het |
Itpr2 |
A |
C |
6: 146,081,727 (GRCm39) |
I2299R |
probably damaging |
Het |
Lig4 |
T |
C |
8: 10,023,673 (GRCm39) |
I36V |
probably benign |
Het |
Nup133 |
A |
C |
8: 124,665,869 (GRCm39) |
Y185* |
probably null |
Het |
Or51b6b |
A |
T |
7: 103,310,194 (GRCm39) |
F88I |
probably benign |
Het |
Or5d14 |
T |
C |
2: 87,880,128 (GRCm39) |
Y280C |
possibly damaging |
Het |
Or6c3 |
A |
G |
10: 129,309,080 (GRCm39) |
H173R |
probably damaging |
Het |
Pgbd5 |
T |
A |
8: 125,101,138 (GRCm39) |
T373S |
possibly damaging |
Het |
Ppp1r8 |
T |
C |
4: 132,555,480 (GRCm39) |
E246G |
probably benign |
Het |
Rmnd5b |
C |
T |
11: 51,518,727 (GRCm39) |
V89M |
probably damaging |
Het |
Rnf123 |
T |
C |
9: 107,935,555 (GRCm39) |
I969V |
probably damaging |
Het |
Ror2 |
A |
G |
13: 53,265,124 (GRCm39) |
I656T |
probably damaging |
Het |
Sgsm1 |
T |
C |
5: 113,411,356 (GRCm39) |
E503G |
probably benign |
Het |
Smgc |
T |
A |
15: 91,744,882 (GRCm39) |
S381T |
possibly damaging |
Het |
Tlr4 |
T |
G |
4: 66,759,504 (GRCm39) |
F766V |
possibly damaging |
Het |
Tnc |
T |
C |
4: 63,918,938 (GRCm39) |
T1162A |
probably damaging |
Het |
Usp39 |
A |
G |
6: 72,315,476 (GRCm39) |
V156A |
probably damaging |
Het |
Zdhhc5 |
A |
G |
2: 84,521,538 (GRCm39) |
Y352H |
probably damaging |
Het |
Zfp646 |
A |
G |
7: 127,478,137 (GRCm39) |
T105A |
probably benign |
Het |
|
Other mutations in Nedd9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01109:Nedd9
|
APN |
13 |
41,469,710 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01412:Nedd9
|
APN |
13 |
41,469,262 (GRCm39) |
nonsense |
probably null |
|
IGL02543:Nedd9
|
APN |
13 |
41,470,211 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03302:Nedd9
|
APN |
13 |
41,492,330 (GRCm39) |
missense |
probably damaging |
0.99 |
hebei
|
UTSW |
13 |
41,492,455 (GRCm39) |
nonsense |
probably null |
|
sheep
|
UTSW |
13 |
41,471,438 (GRCm39) |
missense |
probably benign |
0.33 |
yanzhao
|
UTSW |
13 |
41,465,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R1157:Nedd9
|
UTSW |
13 |
41,467,979 (GRCm39) |
splice site |
probably null |
|
R1611:Nedd9
|
UTSW |
13 |
41,470,406 (GRCm39) |
missense |
probably benign |
|
R1669:Nedd9
|
UTSW |
13 |
41,465,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R1718:Nedd9
|
UTSW |
13 |
41,492,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R1775:Nedd9
|
UTSW |
13 |
41,471,438 (GRCm39) |
missense |
probably benign |
0.33 |
R1971:Nedd9
|
UTSW |
13 |
41,492,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R2107:Nedd9
|
UTSW |
13 |
41,492,455 (GRCm39) |
nonsense |
probably null |
|
R2341:Nedd9
|
UTSW |
13 |
41,469,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R4362:Nedd9
|
UTSW |
13 |
41,471,429 (GRCm39) |
missense |
probably damaging |
0.99 |
R4363:Nedd9
|
UTSW |
13 |
41,471,429 (GRCm39) |
missense |
probably damaging |
0.99 |
R4707:Nedd9
|
UTSW |
13 |
41,492,051 (GRCm39) |
critical splice donor site |
probably null |
|
R4724:Nedd9
|
UTSW |
13 |
41,470,073 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4795:Nedd9
|
UTSW |
13 |
41,471,376 (GRCm39) |
missense |
probably benign |
0.12 |
R4796:Nedd9
|
UTSW |
13 |
41,471,376 (GRCm39) |
missense |
probably benign |
0.12 |
R4853:Nedd9
|
UTSW |
13 |
41,469,837 (GRCm39) |
missense |
probably benign |
0.01 |
R4934:Nedd9
|
UTSW |
13 |
41,492,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R5020:Nedd9
|
UTSW |
13 |
41,469,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R5070:Nedd9
|
UTSW |
13 |
41,470,074 (GRCm39) |
missense |
probably benign |
0.00 |
R5585:Nedd9
|
UTSW |
13 |
41,469,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R5588:Nedd9
|
UTSW |
13 |
41,469,437 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6310:Nedd9
|
UTSW |
13 |
41,471,928 (GRCm39) |
missense |
probably benign |
0.00 |
R6634:Nedd9
|
UTSW |
13 |
41,465,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R6729:Nedd9
|
UTSW |
13 |
41,469,278 (GRCm39) |
missense |
probably damaging |
0.99 |
R7114:Nedd9
|
UTSW |
13 |
41,492,099 (GRCm39) |
missense |
probably benign |
|
R7172:Nedd9
|
UTSW |
13 |
41,470,280 (GRCm39) |
missense |
probably benign |
0.01 |
R7477:Nedd9
|
UTSW |
13 |
41,471,956 (GRCm39) |
missense |
probably benign |
0.02 |
R7665:Nedd9
|
UTSW |
13 |
41,469,785 (GRCm39) |
missense |
probably benign |
0.01 |
R7672:Nedd9
|
UTSW |
13 |
41,492,198 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7810:Nedd9
|
UTSW |
13 |
41,465,483 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7893:Nedd9
|
UTSW |
13 |
41,469,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R7952:Nedd9
|
UTSW |
13 |
41,470,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R8215:Nedd9
|
UTSW |
13 |
41,492,319 (GRCm39) |
missense |
probably benign |
0.14 |
R8399:Nedd9
|
UTSW |
13 |
41,471,950 (GRCm39) |
nonsense |
probably null |
|
R8959:Nedd9
|
UTSW |
13 |
41,469,758 (GRCm39) |
missense |
probably damaging |
0.98 |
R9039:Nedd9
|
UTSW |
13 |
41,471,984 (GRCm39) |
missense |
probably damaging |
1.00 |
R9236:Nedd9
|
UTSW |
13 |
41,492,153 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9663:Nedd9
|
UTSW |
13 |
41,469,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-01-21 |