Incidental Mutation 'IGL01412:Nedd9'
| ID |
80064 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01412
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
41463392-41640836 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 41469262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 630
(Y630*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021794]
[ENSMUST00000163623]
[ENSMUST00000224803]
|
| AlphaFold |
O35177 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021794
AA Change: Y630*
|
| SMART Domains |
Protein: ENSMUSP00000021794
Gene: ENSMUSG00000021365
AA Change: Y630*
| 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: Y630*
|
| SMART Domains |
Protein: ENSMUSP00000125773
Gene: ENSMUSG00000021365
AA Change: Y630*
| 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 |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030458C11Rik |
G |
A |
15: 12,815,958 (GRCm39) |
Q222* |
probably null |
Het |
| Adamts2 |
A |
G |
11: 50,686,230 (GRCm39) |
E1016G |
probably benign |
Het |
| Agmo |
G |
A |
12: 37,452,140 (GRCm39) |
E269K |
possibly damaging |
Het |
| Agrn |
A |
T |
4: 156,255,491 (GRCm39) |
|
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,473,621 (GRCm39) |
L794Q |
possibly damaging |
Het |
| Asb14 |
T |
A |
14: 26,637,022 (GRCm39) |
L588H |
probably damaging |
Het |
| Btbd16 |
A |
T |
7: 130,407,549 (GRCm39) |
|
probably null |
Het |
| Cacna1h |
T |
C |
17: 25,610,924 (GRCm39) |
K625E |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,150,473 (GRCm39) |
D2499G |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,873,707 (GRCm39) |
D687V |
probably damaging |
Het |
| Cops8 |
G |
T |
1: 90,532,153 (GRCm39) |
L45F |
possibly damaging |
Het |
| D130043K22Rik |
A |
G |
13: 25,071,843 (GRCm39) |
H929R |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,492,962 (GRCm39) |
E1241G |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,780,040 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,380,518 (GRCm39) |
I8V |
probably benign |
Het |
| Dst |
T |
C |
1: 34,281,701 (GRCm39) |
V5435A |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,945,330 (GRCm39) |
I1408V |
probably benign |
Het |
| Fhit |
G |
T |
14: 9,870,065 (GRCm38) |
H72N |
probably damaging |
Het |
| Foxp2 |
C |
A |
6: 15,376,757 (GRCm39) |
|
probably benign |
Het |
| Fpgt |
T |
C |
3: 154,792,359 (GRCm39) |
Q556R |
probably benign |
Het |
| Galntl6 |
T |
A |
8: 58,230,328 (GRCm39) |
E30V |
probably damaging |
Het |
| Gemin4 |
A |
T |
11: 76,104,311 (GRCm39) |
V150D |
probably benign |
Het |
| Grm8 |
C |
T |
6: 27,762,460 (GRCm39) |
R255H |
probably damaging |
Het |
| Hapln3 |
G |
A |
7: 78,767,184 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
A |
5: 35,055,916 (GRCm39) |
L2609Q |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,021,731 (GRCm39) |
|
probably benign |
Het |
| Isx |
T |
C |
8: 75,619,306 (GRCm39) |
L166P |
probably benign |
Het |
| Kcnt2 |
G |
A |
1: 140,498,155 (GRCm39) |
M884I |
probably benign |
Het |
| Leo1 |
A |
G |
9: 75,373,524 (GRCm39) |
N650D |
probably benign |
Het |
| Man1a |
A |
G |
10: 53,950,810 (GRCm39) |
V195A |
probably benign |
Het |
| Map2k5 |
A |
T |
9: 63,200,988 (GRCm39) |
I215N |
probably damaging |
Het |
| Mier2 |
A |
G |
10: 79,377,014 (GRCm39) |
*542R |
probably null |
Het |
| Mrgbp |
T |
A |
2: 180,225,209 (GRCm39) |
F55Y |
probably damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,362,527 (GRCm39) |
|
probably null |
Het |
| Nrp1 |
T |
C |
8: 129,145,188 (GRCm39) |
|
probably benign |
Het |
| Or4k15b |
A |
G |
14: 50,272,770 (GRCm39) |
I30T |
probably benign |
Het |
| Or51q1c |
T |
A |
7: 103,652,842 (GRCm39) |
M120K |
probably damaging |
Het |
| Or52z12 |
A |
G |
7: 103,234,114 (GRCm39) |
N295S |
probably damaging |
Het |
| Or5w17 |
A |
T |
2: 87,583,461 (GRCm39) |
L292Q |
probably damaging |
Het |
| Or7g21 |
T |
A |
9: 19,032,895 (GRCm39) |
C212S |
probably benign |
Het |
| Pcnx1 |
A |
T |
12: 81,953,239 (GRCm39) |
I127F |
probably damaging |
Het |
| Pik3ap1 |
T |
C |
19: 41,364,329 (GRCm39) |
E130G |
possibly damaging |
Het |
| Pkd1l1 |
G |
T |
11: 8,900,409 (GRCm39) |
T44N |
possibly damaging |
Het |
| Polr1c |
A |
G |
17: 46,555,135 (GRCm39) |
S226P |
probably damaging |
Het |
| Pramel28 |
A |
C |
4: 143,691,565 (GRCm39) |
V386G |
probably damaging |
Het |
| Prep |
A |
G |
10: 45,029,208 (GRCm39) |
Y536C |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,179,820 (GRCm39) |
T1413A |
probably benign |
Het |
| Pwwp3a |
T |
A |
10: 80,070,163 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,756,922 (GRCm39) |
K1577N |
probably benign |
Het |
| Selplg |
G |
T |
5: 113,957,529 (GRCm39) |
T33K |
probably damaging |
Het |
| Slc26a5 |
T |
A |
5: 22,020,734 (GRCm39) |
I505L |
probably damaging |
Het |
| Slc39a6 |
T |
C |
18: 24,718,413 (GRCm39) |
N548S |
probably damaging |
Het |
| Sp7 |
T |
C |
15: 102,267,798 (GRCm39) |
T3A |
possibly damaging |
Het |
| Tango6 |
T |
C |
8: 107,545,131 (GRCm39) |
V998A |
probably benign |
Het |
| Tas2r130 |
A |
T |
6: 131,607,473 (GRCm39) |
Y107* |
probably null |
Het |
| Tjp2 |
T |
C |
19: 24,078,139 (GRCm39) |
E918G |
probably damaging |
Het |
| Trim12a |
C |
T |
7: 103,956,202 (GRCm39) |
A113T |
probably benign |
Het |
| Zan |
T |
A |
5: 137,391,294 (GRCm39) |
D4730V |
unknown |
Het |
| Zfp607a |
A |
T |
7: 27,578,109 (GRCm39) |
D393V |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-11-05 |
Incidental Mutation