Incidental Mutation 'R2341:Nedd9'
ID |
246762 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nedd9
|
Ensembl Gene |
ENSMUSG00000021365 |
Gene Name |
neural precursor cell expressed, developmentally down-regulated gene 9 |
Synonyms |
Cas-L, HEF1, CasL, E230025G09Rik |
MMRRC Submission |
040327-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2341 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
41463392-41640836 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41469987 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 389
(S389P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125773
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021794]
[ENSMUST00000163623]
[ENSMUST00000224803]
|
AlphaFold |
O35177 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021794
AA Change: S389P
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000021794 Gene: ENSMUSG00000021365 AA Change: S389P
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 |
probably damaging
Transcript: ENSMUST00000163623
AA Change: S389P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125773 Gene: ENSMUSG00000021365 AA Change: S389P
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
|
Meta Mutation Damage Score |
0.0674 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
97% (36/37) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
A |
G |
15: 59,888,212 (GRCm39) |
V76A |
possibly damaging |
Het |
Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
Anapc4 |
T |
C |
5: 52,999,279 (GRCm39) |
|
probably benign |
Het |
Anxa4 |
A |
G |
6: 86,720,135 (GRCm39) |
S144P |
probably benign |
Het |
Bcr |
A |
G |
10: 74,966,944 (GRCm39) |
E517G |
probably damaging |
Het |
Ccdc57 |
T |
C |
11: 120,751,349 (GRCm39) |
E907G |
probably benign |
Het |
Chd6 |
TG |
T |
2: 160,807,679 (GRCm39) |
|
probably null |
Het |
Dock6 |
A |
G |
9: 21,750,782 (GRCm39) |
|
probably benign |
Het |
Dock8 |
A |
G |
19: 25,177,757 (GRCm39) |
K2031E |
probably damaging |
Het |
Gm5444 |
T |
C |
13: 4,884,344 (GRCm39) |
|
noncoding transcript |
Het |
Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
Ifna16 |
A |
G |
4: 88,594,565 (GRCm39) |
S177P |
probably damaging |
Het |
Ino80d |
T |
C |
1: 63,104,985 (GRCm39) |
N364D |
possibly damaging |
Het |
Ltbp2 |
T |
C |
12: 84,855,937 (GRCm39) |
T769A |
probably benign |
Het |
Ms4a20 |
T |
A |
19: 11,083,157 (GRCm39) |
M88L |
probably benign |
Het |
Mug1 |
T |
C |
6: 121,861,588 (GRCm39) |
V1350A |
probably benign |
Het |
Or10ag57 |
A |
T |
2: 87,218,084 (GRCm39) |
I12F |
probably benign |
Het |
Or4c11b |
A |
G |
2: 88,624,989 (GRCm39) |
N88D |
probably benign |
Het |
Or8h8 |
T |
C |
2: 86,752,982 (GRCm39) |
K298R |
possibly damaging |
Het |
Pole |
A |
T |
5: 110,478,829 (GRCm39) |
I28F |
possibly damaging |
Het |
Prkce |
C |
A |
17: 86,781,870 (GRCm39) |
P180T |
probably damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,723,909 (GRCm39) |
H1995R |
possibly damaging |
Het |
Rnf144b |
A |
G |
13: 47,373,976 (GRCm39) |
K58E |
probably benign |
Het |
Rnf43 |
A |
G |
11: 87,622,851 (GRCm39) |
R651G |
probably damaging |
Het |
Scel |
A |
T |
14: 103,845,606 (GRCm39) |
L580F |
possibly damaging |
Het |
Scn4b |
G |
A |
9: 45,059,127 (GRCm39) |
V133M |
probably damaging |
Het |
Sipa1l3 |
T |
C |
7: 29,077,060 (GRCm39) |
N904S |
probably damaging |
Het |
Sun5 |
A |
G |
2: 153,709,422 (GRCm39) |
|
probably benign |
Het |
Tanc2 |
T |
C |
11: 105,725,877 (GRCm39) |
V347A |
probably benign |
Het |
Tmem245 |
T |
C |
4: 56,937,957 (GRCm39) |
Y197C |
probably damaging |
Het |
Usp30 |
C |
T |
5: 114,249,241 (GRCm39) |
R182* |
probably null |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Vps35 |
T |
C |
8: 86,001,443 (GRCm39) |
|
probably benign |
Het |
Xkr7 |
G |
A |
2: 152,896,318 (GRCm39) |
V391M |
possibly damaging |
Het |
Ythdf3 |
A |
T |
3: 16,257,379 (GRCm39) |
|
probably benign |
Het |
Zfp110 |
T |
C |
7: 12,583,113 (GRCm39) |
V587A |
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 |
|
IGL01669:Nedd9
|
APN |
13 |
41,492,111 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCGGATCTCATTGATGTGCC -3'
(R):5'- AGTGATGCCTATGATGTCCCC -3'
Sequencing Primer
(F):5'- GATGTGCCTTTCCATGTATCCGTAG -3'
(R):5'- CCCGGGGAGTTCAGTTTC -3'
|
Posted On |
2014-10-30 |