Incidental Mutation 'R6729:Nedd9'
| ID |
529984 |
| 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 |
044847-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6729 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
41463392-41640836 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41469278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 625
(M625T)
|
| 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: M625T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021794
Gene: ENSMUSG00000021365
AA Change: M625T
| 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: M625T
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125773
Gene: ENSMUSG00000021365
AA Change: M625T
| 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 |
0.4360 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (34/34) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad12 |
A |
T |
5: 121,745,998 (GRCm39) |
H230Q |
probably damaging |
Het |
| AI182371 |
G |
T |
2: 34,974,717 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,644,755 (GRCm39) |
V73A |
probably damaging |
Het |
| Apbb1 |
A |
T |
7: 105,214,588 (GRCm39) |
M28K |
probably damaging |
Het |
| Atp6v1f |
A |
G |
6: 29,467,964 (GRCm39) |
D50G |
probably benign |
Het |
| Bltp3b |
T |
A |
10: 89,641,546 (GRCm39) |
S906T |
probably benign |
Het |
| Cdkal1 |
G |
A |
13: 29,658,678 (GRCm39) |
T356M |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,711,727 (GRCm39) |
I756T |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,218,085 (GRCm39) |
|
probably null |
Het |
| Cyp17a1 |
A |
G |
19: 46,659,020 (GRCm39) |
V207A |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,711,681 (GRCm39) |
E2636G |
possibly damaging |
Het |
| Gm13090 |
A |
T |
4: 151,174,085 (GRCm39) |
|
probably benign |
Het |
| Nceh1 |
T |
A |
3: 27,295,420 (GRCm39) |
L227* |
probably null |
Het |
| Or10n1 |
A |
T |
9: 39,525,069 (GRCm39) |
M69L |
probably benign |
Het |
| Or4d1 |
G |
A |
11: 87,805,676 (GRCm39) |
Q19* |
probably null |
Het |
| Or4d10c |
T |
A |
19: 12,065,860 (GRCm39) |
M99L |
probably benign |
Het |
| Or8b53 |
A |
G |
9: 38,667,124 (GRCm39) |
I47V |
probably benign |
Het |
| Pcsk4 |
T |
C |
10: 80,160,935 (GRCm39) |
N297S |
probably damaging |
Het |
| Psg21 |
T |
A |
7: 18,386,516 (GRCm39) |
I157F |
probably damaging |
Het |
| Rabep2 |
T |
C |
7: 126,039,369 (GRCm39) |
V294A |
probably benign |
Het |
| Rsph1 |
A |
G |
17: 31,496,226 (GRCm39) |
S2P |
unknown |
Het |
| Sacs |
A |
G |
14: 61,447,967 (GRCm39) |
K3338E |
probably damaging |
Het |
| Slc35f4 |
T |
G |
14: 49,556,417 (GRCm39) |
N112T |
probably benign |
Het |
| Slc43a3 |
T |
C |
2: 84,768,629 (GRCm39) |
F83L |
probably damaging |
Het |
| Slc6a15 |
T |
C |
10: 103,229,775 (GRCm39) |
V154A |
probably damaging |
Het |
| Synj2 |
T |
A |
17: 6,036,289 (GRCm39) |
M1K |
probably null |
Het |
| Tcp1 |
G |
A |
17: 13,142,140 (GRCm39) |
R378Q |
probably damaging |
Het |
| Tead2 |
A |
G |
7: 44,866,658 (GRCm39) |
T6A |
probably benign |
Het |
| Tpte |
G |
T |
8: 22,845,491 (GRCm39) |
V514L |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,807,661 (GRCm39) |
N1069D |
probably damaging |
Het |
| Vmn2r105 |
C |
A |
17: 20,428,605 (GRCm39) |
G824C |
probably damaging |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zfp934 |
A |
T |
13: 62,640,746 (GRCm39) |
N2K |
probably damaging |
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 |
|
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 |
|
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'- TTTTGGACAACCTCACCCTCAG -3'
(R):5'- GAGACCCTCTTTAGAGCAGATCC -3'
Sequencing Primer
(F):5'- ACCCTCAGTTTTCACAACAGTTAG -3'
(R):5'- TTCCCATCTGAAGAATGGGC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation