Incidental Mutation 'R8399:Nedd9'
| ID |
647785 |
| 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 |
067762-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8399 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
41463392-41640836 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 41471950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 176
(Y176*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021794]
[ENSMUST00000163623]
[ENSMUST00000224803]
|
| AlphaFold |
O35177 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021794
AA Change: Y176*
|
| SMART Domains |
Protein: ENSMUSP00000021794
Gene: ENSMUSG00000021365
AA Change: Y176*
| 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 null
Transcript: ENSMUST00000163623
AA Change: Y176*
|
| SMART Domains |
Protein: ENSMUSP00000125773
Gene: ENSMUSG00000021365
AA Change: Y176*
| 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 null
Transcript: ENSMUST00000224803
AA Change: Y170*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,637,289 (GRCm39) |
V3384D |
possibly damaging |
Het |
| Apba3 |
C |
A |
10: 81,104,832 (GRCm39) |
T35N |
probably benign |
Het |
| Bcl6 |
T |
C |
16: 23,791,698 (GRCm39) |
M219V |
probably benign |
Het |
| Bco2 |
T |
A |
9: 50,452,418 (GRCm39) |
T217S |
probably benign |
Het |
| C1s1 |
C |
T |
6: 124,512,252 (GRCm39) |
V277I |
probably benign |
Het |
| Ccdc162 |
T |
A |
10: 41,415,517 (GRCm39) |
R2149W |
probably damaging |
Het |
| Cers6 |
T |
C |
2: 68,692,115 (GRCm39) |
F46L |
probably benign |
Het |
| Chpf |
T |
C |
1: 75,452,864 (GRCm39) |
I359V |
probably benign |
Het |
| Chrnb4 |
A |
C |
9: 54,951,107 (GRCm39) |
L52R |
probably benign |
Het |
| Cox6a1 |
T |
C |
5: 115,483,958 (GRCm39) |
T95A |
probably damaging |
Het |
| Def8 |
T |
A |
8: 124,182,238 (GRCm39) |
Y197* |
probably null |
Het |
| Dmbt1 |
C |
G |
7: 130,684,317 (GRCm39) |
D778E |
unknown |
Het |
| Dnaaf3 |
C |
T |
7: 4,526,936 (GRCm39) |
|
probably null |
Het |
| Dnm1l |
T |
A |
16: 16,139,536 (GRCm39) |
H484L |
probably damaging |
Het |
| Eml1 |
G |
A |
12: 108,504,390 (GRCm39) |
S783N |
possibly damaging |
Het |
| Frmd4a |
T |
C |
2: 4,577,244 (GRCm39) |
S367P |
probably damaging |
Het |
| Hck |
A |
C |
2: 152,980,237 (GRCm39) |
K355N |
probably damaging |
Het |
| Hexim2 |
G |
T |
11: 103,029,329 (GRCm39) |
R127L |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,008,178 (GRCm39) |
L1592P |
possibly damaging |
Het |
| Htr1d |
G |
A |
4: 136,170,686 (GRCm39) |
G305E |
probably damaging |
Het |
| Ifi207 |
G |
A |
1: 173,557,844 (GRCm39) |
S298L |
unknown |
Het |
| Ighv1-11 |
A |
G |
12: 114,576,047 (GRCm39) |
V56A |
possibly damaging |
Het |
| Ighv7-1 |
G |
A |
12: 113,860,532 (GRCm39) |
T12I |
unknown |
Het |
| Kctd14 |
T |
C |
7: 97,106,811 (GRCm39) |
L22P |
probably damaging |
Het |
| Klra17 |
T |
C |
6: 129,851,900 (GRCm39) |
|
probably benign |
Het |
| Kndc1 |
C |
T |
7: 139,493,434 (GRCm39) |
R467W |
probably damaging |
Het |
| Maf |
T |
A |
8: 116,433,251 (GRCm39) |
I118F |
unknown |
Het |
| Mppe1 |
T |
C |
18: 67,358,946 (GRCm39) |
T341A |
probably benign |
Het |
| Mtmr2 |
T |
A |
9: 13,703,363 (GRCm39) |
V186E |
probably benign |
Het |
| Omd |
A |
G |
13: 49,743,345 (GRCm39) |
I132V |
possibly damaging |
Het |
| Or12e10 |
A |
C |
2: 87,640,568 (GRCm39) |
M135L |
probably damaging |
Het |
| Or4a39 |
T |
C |
2: 89,237,028 (GRCm39) |
T132A |
probably benign |
Het |
| Pcnx4 |
T |
A |
12: 72,620,985 (GRCm39) |
M935K |
probably benign |
Het |
| Pecr |
G |
A |
1: 72,306,624 (GRCm39) |
T219I |
probably benign |
Het |
| Pkd1l3 |
C |
T |
8: 110,350,520 (GRCm39) |
P455L |
possibly damaging |
Het |
| Plcg2 |
T |
C |
8: 118,323,101 (GRCm39) |
Y719H |
probably damaging |
Het |
| Plk4 |
C |
T |
3: 40,763,265 (GRCm39) |
R479* |
probably null |
Het |
| Pms1 |
T |
A |
1: 53,307,091 (GRCm39) |
|
probably null |
Het |
| Raph1 |
C |
T |
1: 60,528,477 (GRCm39) |
S928N |
unknown |
Het |
| Rtp4 |
G |
T |
16: 23,339,164 (GRCm39) |
|
probably benign |
Het |
| Skor1 |
C |
T |
9: 63,052,440 (GRCm39) |
V510I |
possibly damaging |
Het |
| Smg1 |
T |
C |
7: 117,789,794 (GRCm39) |
T699A |
unknown |
Het |
| Tcp11l1 |
T |
C |
2: 104,515,720 (GRCm39) |
D381G |
probably benign |
Het |
| Tnik |
T |
A |
3: 28,548,159 (GRCm39) |
M56K |
unknown |
Het |
| Trappc9 |
G |
A |
15: 72,924,131 (GRCm39) |
R204C |
probably damaging |
Het |
| Trmt10b |
A |
T |
4: 45,305,870 (GRCm39) |
M184L |
possibly damaging |
Het |
| Vmn1r224 |
T |
A |
17: 20,640,011 (GRCm39) |
I196N |
probably damaging |
Het |
| Vmn1r49 |
A |
T |
6: 90,049,689 (GRCm39) |
C104* |
probably null |
Het |
| Vmn2r35 |
A |
C |
7: 7,819,897 (GRCm39) |
S124R |
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,957,486 (GRCm39) |
E547G |
probably damaging |
Het |
| Zfp68 |
A |
T |
5: 138,606,082 (GRCm39) |
D80E |
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 |
|
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 |
|
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'- GCAACACCGACTGAAATGGC -3'
(R):5'- AGTGCCCTTAACTGCTGATCC -3'
Sequencing Primer
(F):5'- ACTGAAATGGCCTCTGGAC -3'
(R):5'- CCTTGAATATAGGGAATTGAGAGTCC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation