Incidental Mutation 'R1718:Nedd9'
| ID |
191226 |
| 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 |
039751-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1718 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
41463392-41640836 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41492402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 30
(N30S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152937
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021794]
[ENSMUST00000163623]
[ENSMUST00000224803]
|
| AlphaFold |
O35177 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021794
AA Change: N36S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021794
Gene: ENSMUSG00000021365
AA Change: N36S
| 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: N36S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125773
Gene: ENSMUSG00000021365
AA Change: N36S
| 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: N30S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225053
|
| Meta Mutation Damage Score |
0.6274 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
100% (69/69) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
G |
T |
13: 77,393,489 (GRCm39) |
|
probably benign |
Het |
| Acot3 |
T |
G |
12: 84,100,717 (GRCm39) |
|
probably null |
Het |
| Acox1 |
A |
T |
11: 116,065,508 (GRCm39) |
C523* |
probably null |
Het |
| Adamts19 |
G |
A |
18: 59,105,897 (GRCm39) |
C764Y |
probably damaging |
Het |
| Agrn |
GCTCT |
GCTCTCT |
4: 156,250,976 (GRCm39) |
|
probably null |
Het |
| Apob |
A |
G |
12: 8,066,087 (GRCm39) |
K4319R |
probably benign |
Het |
| AU016765 |
A |
C |
17: 64,862,433 (GRCm39) |
|
noncoding transcript |
Het |
| Bpifb1 |
T |
A |
2: 154,055,903 (GRCm39) |
|
probably null |
Het |
| Btn2a2 |
A |
G |
13: 23,666,106 (GRCm39) |
V242A |
probably benign |
Het |
| Camta1 |
A |
G |
4: 151,168,481 (GRCm39) |
S1281P |
probably benign |
Het |
| Ccdc116 |
T |
C |
16: 16,959,772 (GRCm39) |
K306E |
probably benign |
Het |
| Cemip |
A |
G |
7: 83,584,866 (GRCm39) |
V1350A |
probably benign |
Het |
| Clip2 |
A |
T |
5: 134,531,783 (GRCm39) |
L674* |
probably null |
Het |
| Cyp2d12 |
T |
A |
15: 82,442,251 (GRCm39) |
D244E |
probably benign |
Het |
| Cyp4x1 |
A |
G |
4: 114,968,867 (GRCm39) |
V379A |
possibly damaging |
Het |
| Dnah9 |
T |
A |
11: 66,058,905 (GRCm39) |
H130L |
possibly damaging |
Het |
| Enpp7 |
A |
G |
11: 118,881,809 (GRCm39) |
Y318C |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,702,748 (GRCm39) |
|
probably null |
Het |
| Glra3 |
G |
T |
8: 56,393,942 (GRCm39) |
A18S |
probably benign |
Het |
| Gm28042 |
T |
A |
2: 119,866,872 (GRCm39) |
S172T |
possibly damaging |
Het |
| Gm7808 |
T |
A |
9: 19,839,299 (GRCm39) |
|
probably benign |
Het |
| Gpr61 |
C |
T |
3: 108,057,696 (GRCm39) |
V322M |
possibly damaging |
Het |
| H2-T5 |
A |
G |
17: 36,472,676 (GRCm39) |
|
probably benign |
Het |
| Hapln3 |
A |
G |
7: 78,773,198 (GRCm39) |
V15A |
unknown |
Het |
| Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
| Klk1b4 |
A |
G |
7: 43,859,096 (GRCm39) |
Y38C |
probably damaging |
Het |
| Lrrfip1 |
A |
G |
1: 91,043,277 (GRCm39) |
K561E |
probably damaging |
Het |
| Map3k1 |
A |
G |
13: 111,891,953 (GRCm39) |
C1101R |
probably benign |
Het |
| Mcoln2 |
A |
G |
3: 145,896,229 (GRCm39) |
|
probably benign |
Het |
| Mfsd2b |
G |
A |
12: 4,919,037 (GRCm39) |
T73I |
probably damaging |
Het |
| Mfsd4b5 |
C |
T |
10: 39,851,199 (GRCm39) |
V19I |
probably benign |
Het |
| Mgme1 |
T |
A |
2: 144,114,238 (GRCm39) |
D113E |
probably benign |
Het |
| Mki67 |
A |
G |
7: 135,297,223 (GRCm39) |
S2604P |
probably damaging |
Het |
| Mob3c |
A |
G |
4: 115,688,841 (GRCm39) |
I125V |
probably benign |
Het |
| Mrps9 |
G |
A |
1: 42,942,559 (GRCm39) |
R339H |
probably damaging |
Het |
| Ndst1 |
T |
C |
18: 60,840,875 (GRCm39) |
D269G |
probably damaging |
Het |
| Notch4 |
G |
A |
17: 34,795,737 (GRCm39) |
|
probably benign |
Het |
| Or5ak25 |
T |
C |
2: 85,269,149 (GRCm39) |
M118V |
probably benign |
Het |
| Or5t15 |
A |
T |
2: 86,681,531 (GRCm39) |
N170K |
probably benign |
Het |
| Or8b9 |
G |
A |
9: 37,766,749 (GRCm39) |
V212I |
probably benign |
Het |
| Or8c10 |
A |
G |
9: 38,278,890 (GRCm39) |
D6G |
probably benign |
Het |
| Papss1 |
C |
A |
3: 131,324,946 (GRCm39) |
R447S |
probably damaging |
Het |
| Pla2g4a |
C |
T |
1: 149,747,274 (GRCm39) |
|
probably benign |
Het |
| Rab11fip2 |
A |
G |
19: 59,924,081 (GRCm39) |
F266L |
probably damaging |
Het |
| Ralgapb |
T |
A |
2: 158,285,200 (GRCm39) |
Y554* |
probably null |
Het |
| Rem2 |
T |
C |
14: 54,716,607 (GRCm39) |
V240A |
probably damaging |
Het |
| Retsat |
T |
C |
6: 72,579,654 (GRCm39) |
V143A |
probably benign |
Het |
| Rnf141 |
G |
T |
7: 110,420,480 (GRCm39) |
Q175K |
probably damaging |
Het |
| Rtcb |
C |
A |
10: 85,777,881 (GRCm39) |
G431V |
probably damaging |
Het |
| Slc7a6os |
A |
G |
8: 106,930,971 (GRCm39) |
W222R |
probably damaging |
Het |
| Smarcc2 |
T |
C |
10: 128,304,867 (GRCm39) |
|
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,755,828 (GRCm39) |
Y218N |
possibly damaging |
Het |
| Sp110 |
G |
A |
1: 85,522,106 (GRCm39) |
H66Y |
probably benign |
Het |
| Speg |
G |
A |
1: 75,394,507 (GRCm39) |
E1739K |
probably benign |
Het |
| Speg |
A |
G |
1: 75,398,388 (GRCm39) |
Q1945R |
possibly damaging |
Het |
| Sprtn |
T |
C |
8: 125,625,096 (GRCm39) |
V67A |
probably damaging |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Tnks1bp1 |
G |
T |
2: 84,902,082 (GRCm39) |
E997D |
probably benign |
Het |
| Tti1 |
A |
T |
2: 157,850,144 (GRCm39) |
V365E |
probably benign |
Het |
| Tulp4 |
A |
G |
17: 6,272,715 (GRCm39) |
I590V |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,950,121 (GRCm39) |
D847G |
probably benign |
Het |
| Zfp184 |
A |
G |
13: 22,143,442 (GRCm39) |
T383A |
possibly damaging |
Het |
| Zik1 |
T |
A |
7: 10,226,268 (GRCm39) |
E33V |
probably damaging |
Het |
| Zik1 |
C |
A |
7: 10,226,269 (GRCm39) |
E33* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGCCAATGTTCCTCTGAACTGATG -3'
(R):5'- ACTGTGCCTGTCCCTAAAAGTGTG -3'
Sequencing Primer
(F):5'- ATGGTATCCCGAGATGCTGC -3'
(R):5'- CCCTAAAAGTGTGGGTTGTATAAG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation