Incidental Mutation 'R5585:Nedd9'
| ID |
438673 |
| 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 |
043139-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5585 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
41463392-41640836 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41469950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 401
(L401P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021794]
[ENSMUST00000163623]
[ENSMUST00000224803]
|
| AlphaFold |
O35177 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021794
AA Change: L401P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021794
Gene: ENSMUSG00000021365
AA Change: L401P
| 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: L401P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125773
Gene: ENSMUSG00000021365
AA Change: L401P
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600014C23Rik |
A |
T |
17: 46,044,670 (GRCm39) |
I17N |
unknown |
Het |
| 4932414N04Rik |
A |
G |
2: 68,571,770 (GRCm39) |
T549A |
probably benign |
Het |
| 9330159F19Rik |
C |
A |
10: 29,101,271 (GRCm39) |
S548Y |
possibly damaging |
Het |
| Aanat |
A |
G |
11: 116,487,799 (GRCm39) |
Y166C |
probably damaging |
Het |
| Adra2a |
G |
T |
19: 54,034,670 (GRCm39) |
A9S |
probably benign |
Het |
| Ap4m1 |
A |
G |
5: 138,170,502 (GRCm39) |
Y17C |
probably damaging |
Het |
| Arhgap33 |
T |
G |
7: 30,223,260 (GRCm39) |
M891L |
probably benign |
Het |
| Calm5 |
A |
G |
13: 3,904,372 (GRCm39) |
D22G |
possibly damaging |
Het |
| Ccdc15 |
C |
T |
9: 37,188,699 (GRCm39) |
R795H |
probably benign |
Het |
| Cngb1 |
T |
A |
8: 95,989,767 (GRCm39) |
I323F |
probably damaging |
Het |
| Cyp26b1 |
A |
G |
6: 84,554,171 (GRCm39) |
F74L |
probably damaging |
Het |
| Dpagt1 |
G |
A |
9: 44,240,439 (GRCm39) |
|
probably null |
Het |
| Ercc8 |
C |
T |
13: 108,312,123 (GRCm39) |
P196S |
probably damaging |
Het |
| Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
| Hfm1 |
G |
A |
5: 107,059,305 (GRCm39) |
S239L |
probably benign |
Het |
| Hgf |
A |
G |
5: 16,769,799 (GRCm39) |
D91G |
possibly damaging |
Het |
| Lefty2 |
T |
A |
1: 180,720,828 (GRCm39) |
V27D |
possibly damaging |
Het |
| Lrp2 |
G |
A |
2: 69,294,968 (GRCm39) |
T3450I |
possibly damaging |
Het |
| Lrrc38 |
A |
G |
4: 143,076,961 (GRCm39) |
I75V |
probably damaging |
Het |
| Ncor2 |
C |
A |
5: 125,144,975 (GRCm39) |
E556* |
probably null |
Het |
| Nfatc4 |
T |
C |
14: 56,064,212 (GRCm39) |
L163P |
probably damaging |
Het |
| Nln |
T |
C |
13: 104,161,569 (GRCm39) |
N667S |
possibly damaging |
Het |
| Or5w20 |
A |
G |
2: 87,727,019 (GRCm39) |
T159A |
possibly damaging |
Het |
| Pnpla8 |
T |
C |
12: 44,329,847 (GRCm39) |
I133T |
probably benign |
Het |
| Psma1 |
C |
T |
7: 113,873,302 (GRCm39) |
G12S |
probably damaging |
Het |
| Psmd3 |
G |
A |
11: 98,573,707 (GRCm39) |
G51D |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,216,759 (GRCm39) |
Q1959R |
probably damaging |
Het |
| Rhbdf1 |
A |
G |
11: 32,160,222 (GRCm39) |
|
probably null |
Het |
| Rnf167 |
T |
C |
11: 70,540,308 (GRCm39) |
V110A |
probably damaging |
Het |
| Rrp9 |
C |
T |
9: 106,362,525 (GRCm39) |
S470F |
probably benign |
Het |
| Rtn3 |
G |
A |
19: 7,435,560 (GRCm39) |
P125L |
probably benign |
Het |
| Scube1 |
C |
T |
15: 83,561,124 (GRCm39) |
C156Y |
probably damaging |
Het |
| Tgm2 |
A |
T |
2: 157,973,375 (GRCm39) |
Y245* |
probably null |
Het |
| Timeless |
T |
C |
10: 128,076,112 (GRCm39) |
I68T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,645,054 (GRCm39) |
S12934P |
probably damaging |
Het |
| Vwa5b2 |
T |
A |
16: 20,413,428 (GRCm39) |
Y214* |
probably null |
Het |
| Yars2 |
T |
A |
16: 16,122,484 (GRCm39) |
N7K |
probably damaging |
Het |
| Zfp142 |
G |
A |
1: 74,617,404 (GRCm39) |
Q150* |
probably null |
Het |
| Zfp995 |
C |
T |
17: 22,106,339 (GRCm39) |
|
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 |
|
|
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 |
|
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'- AGGCATTGGCTAAAGCTCCC -3'
(R):5'- AAGAGACGGTGTCTACGATGTCC -3'
Sequencing Primer
(F):5'- CCCTTGGCAAAATGGAGGTATTCTC -3'
(R):5'- TACGATGTCCCTCTGCACAAC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation