Incidental Mutation 'R4363:Nedd9'
| ID |
324996 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4363 (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 T
at 41471429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 184
(I184N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152937
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021794]
[ENSMUST00000163623]
[ENSMUST00000224803]
|
| AlphaFold |
O35177 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021794
AA Change: I190N
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000021794
Gene: ENSMUSG00000021365
AA Change: I190N
| 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: I190N
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125773
Gene: ENSMUSG00000021365
AA Change: I190N
| 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 damaging
Transcript: ENSMUST00000224803
AA Change: I184N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.1700 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
T |
19: 43,787,575 (GRCm39) |
W207L |
possibly damaging |
Het |
| Adamts13 |
G |
A |
2: 26,894,794 (GRCm39) |
C1034Y |
probably damaging |
Het |
| Adgrb3 |
A |
T |
1: 25,151,303 (GRCm39) |
V1081E |
probably damaging |
Het |
| Apcdd1 |
T |
A |
18: 63,085,003 (GRCm39) |
I400N |
possibly damaging |
Het |
| Bcan |
G |
T |
3: 87,904,405 (GRCm39) |
T117K |
probably damaging |
Het |
| Bicc1 |
ATGTG |
ATG |
10: 70,779,204 (GRCm39) |
|
probably null |
Het |
| Cmtr1 |
T |
C |
17: 29,893,206 (GRCm39) |
L75P |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,300,229 (GRCm39) |
S3179T |
unknown |
Het |
| Cplx2 |
A |
T |
13: 54,526,630 (GRCm39) |
T13S |
probably benign |
Het |
| Drd3 |
A |
T |
16: 43,582,722 (GRCm39) |
I72F |
probably damaging |
Het |
| Dsn1 |
A |
T |
2: 156,841,062 (GRCm39) |
I214K |
probably benign |
Het |
| Ermp1 |
A |
T |
19: 29,590,276 (GRCm39) |
W809R |
probably damaging |
Het |
| Fbn2 |
G |
A |
18: 58,282,122 (GRCm39) |
S298L |
probably damaging |
Het |
| Fbxo33 |
T |
C |
12: 59,251,648 (GRCm39) |
H289R |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,846,331 (GRCm39) |
S1008P |
probably damaging |
Het |
| Gli2 |
T |
C |
1: 118,781,100 (GRCm39) |
N189S |
probably benign |
Het |
| Hus1 |
G |
T |
11: 8,948,676 (GRCm39) |
L242I |
probably damaging |
Het |
| Hyou1 |
G |
A |
9: 44,291,912 (GRCm39) |
|
probably null |
Het |
| Kirrel1 |
C |
A |
3: 86,997,792 (GRCm39) |
E244* |
probably null |
Het |
| Mmrn2 |
C |
T |
14: 34,119,934 (GRCm39) |
A268V |
probably damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,485,893 (GRCm39) |
A1023E |
probably damaging |
Het |
| Nmnat1 |
T |
C |
4: 149,557,902 (GRCm39) |
I47V |
probably benign |
Het |
| Or1j11 |
A |
T |
2: 36,311,544 (GRCm39) |
I45F |
probably damaging |
Het |
| Or51f5 |
T |
C |
7: 102,424,463 (GRCm39) |
V244A |
probably benign |
Het |
| Otulinl |
C |
T |
15: 27,664,429 (GRCm39) |
|
probably null |
Het |
| Pak1 |
T |
C |
7: 97,532,793 (GRCm39) |
S198P |
possibly damaging |
Het |
| Pank1 |
A |
C |
19: 34,804,532 (GRCm39) |
V208G |
probably damaging |
Het |
| Pcdhga12 |
C |
G |
18: 37,899,214 (GRCm39) |
F15L |
probably benign |
Het |
| Recql4 |
T |
C |
15: 76,590,244 (GRCm39) |
D723G |
probably benign |
Het |
| Rgs22 |
A |
T |
15: 36,104,020 (GRCm39) |
I147N |
probably damaging |
Het |
| Selenbp1 |
A |
G |
3: 94,850,060 (GRCm39) |
|
probably null |
Het |
| Sspo |
A |
G |
6: 48,475,665 (GRCm39) |
Y4927C |
probably damaging |
Het |
| Syk |
A |
T |
13: 52,794,766 (GRCm39) |
H477L |
probably damaging |
Het |
| Tnfrsf11b |
T |
A |
15: 54,119,555 (GRCm39) |
T140S |
possibly damaging |
Het |
| Vmn2r-ps69 |
T |
C |
7: 84,959,700 (GRCm39) |
|
noncoding transcript |
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 |
|
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'- GATGTCTTCATATTTTCGGGGACTC -3'
(R):5'- GAGCAGATAGTTCACGTAAGATTG -3'
Sequencing Primer
(F):5'- CATATTTTCGGGGACTCAAAATTTG -3'
(R):5'- ACCTAAATCAAAGAATCCAAGAGTC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation