Incidental Mutation 'IGL01669:Nedd9'
ID 103427
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) question?
Stock # IGL01669
Quality Score
Status
Chromosome 13
Chromosomal Location 41463392-41640836 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41492111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 133 (V133A)
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: V133A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021794
Gene: ENSMUSG00000021365
AA Change: V133A

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000163623
AA Change: V133A

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125773
Gene: ENSMUSG00000021365
AA Change: V133A

DomainStartEndE-ValueType
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
AA Change: V127A

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225053
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl4 G T X: 141,126,184 (GRCm39) D313E probably damaging Het
Aifm3 A C 16: 17,321,405 (GRCm39) K453T probably benign Het
Anks1b T C 10: 90,733,100 (GRCm39) probably benign Het
Arfgef1 T C 1: 10,229,840 (GRCm39) D1287G probably damaging Het
Bcl3 G A 7: 19,546,416 (GRCm39) Q140* probably null Het
Bnipl T G 3: 95,150,045 (GRCm39) R316S probably damaging Het
Cacna1i T A 15: 80,275,958 (GRCm39) H1916Q probably benign Het
Ccdc171 C T 4: 83,599,432 (GRCm39) A749V probably damaging Het
Ceacam18 G A 7: 43,294,939 (GRCm39) G333E probably damaging Het
Cul7 G T 17: 46,969,641 (GRCm39) M969I possibly damaging Het
Cylc2 A G 4: 51,228,360 (GRCm39) T144A probably benign Het
Cyp2c50 A T 19: 40,086,495 (GRCm39) H294L probably damaging Het
D430041D05Rik T C 2: 104,085,306 (GRCm39) K1081R probably damaging Het
D930020B18Rik A G 10: 121,519,866 (GRCm39) K456R probably benign Het
Drd2 A G 9: 49,313,389 (GRCm39) N186S possibly damaging Het
Fanci A T 7: 79,098,925 (GRCm39) E1306D probably benign Het
Fbxl21 T A 13: 56,675,522 (GRCm39) probably benign Het
Galk2 T A 2: 125,729,807 (GRCm39) Y63N probably damaging Het
Git2 T C 5: 114,905,166 (GRCm39) D97G probably damaging Het
Gm8258 T A 5: 104,923,940 (GRCm39) noncoding transcript Het
Irf4 G T 13: 30,941,454 (GRCm39) S270I probably damaging Het
Itgb3 C A 11: 104,524,216 (GRCm39) probably benign Het
Itpr2 A C 6: 146,081,727 (GRCm39) I2299R probably damaging Het
Lig4 T C 8: 10,023,673 (GRCm39) I36V probably benign Het
Nup133 A C 8: 124,665,869 (GRCm39) Y185* probably null Het
Or51b6b A T 7: 103,310,194 (GRCm39) F88I probably benign Het
Or5d14 T C 2: 87,880,128 (GRCm39) Y280C possibly damaging Het
Or6c3 A G 10: 129,309,080 (GRCm39) H173R probably damaging Het
Pgbd5 T A 8: 125,101,138 (GRCm39) T373S possibly damaging Het
Ppp1r8 T C 4: 132,555,480 (GRCm39) E246G probably benign Het
Rmnd5b C T 11: 51,518,727 (GRCm39) V89M probably damaging Het
Rnf123 T C 9: 107,935,555 (GRCm39) I969V probably damaging Het
Ror2 A G 13: 53,265,124 (GRCm39) I656T probably damaging Het
Sgsm1 T C 5: 113,411,356 (GRCm39) E503G probably benign Het
Smgc T A 15: 91,744,882 (GRCm39) S381T possibly damaging Het
Tlr4 T G 4: 66,759,504 (GRCm39) F766V possibly damaging Het
Tnc T C 4: 63,918,938 (GRCm39) T1162A probably damaging Het
Usp39 A G 6: 72,315,476 (GRCm39) V156A probably damaging Het
Zdhhc5 A G 2: 84,521,538 (GRCm39) Y352H probably damaging Het
Zfp646 A G 7: 127,478,137 (GRCm39) T105A probably benign Het
Other mutations in Nedd9
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2014-01-21