Incidental Mutation 'IGL02271:Net1'
ID287141
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Net1
Ensembl Gene ENSMUSG00000021215
Gene Nameneuroepithelial cell transforming gene 1
SynonymsmNET1, 0610025H04Rik, 9530071N24Rik, Net1 homolog
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.233) question?
Stock #IGL02271
Quality Score
Status
Chromosome13
Chromosomal Location3882018-3918220 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 3887663 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 146 (Y146C)
Ref Sequence ENSEMBL: ENSMUSP00000097529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091853] [ENSMUST00000099946] [ENSMUST00000222504]
Predicted Effect probably damaging
Transcript: ENSMUST00000091853
AA Change: Y200C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089464
Gene: ENSMUSG00000021215
AA Change: Y200C

DomainStartEndE-ValueType
low complexity region 11 19 N/A INTRINSIC
low complexity region 73 84 N/A INTRINSIC
RhoGEF 178 355 2.84e-54 SMART
PH 387 503 5.79e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000099946
AA Change: Y146C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097529
Gene: ENSMUSG00000021215
AA Change: Y146C

DomainStartEndE-ValueType
RhoGEF 124 301 2.84e-54 SMART
PH 333 449 5.79e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220887
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222442
Predicted Effect probably benign
Transcript: ENSMUST00000222504
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is part of the family of Rho guanine nucleotide exchange factors. Members of this family activate Rho proteins by catalyzing the exchange of GDP for GTP. The protein encoded by this gene interacts with RhoA within the cell nucleus and may play a role in repairing DNA damage after ionizing radiation. Pseudogenes of this gene are located on the long arms of chromosomes 1, 7 and 18. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit delayed mammary gland development during puberty associated with slower ductal extension, reduced ductal branching and epithelial cell proliferation, disorganized myoepithelial and ductal epithelial cells, and increased collagen deposition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astn1 C T 1: 158,510,950 probably benign Het
Bms1 C A 6: 118,389,329 V1068F probably benign Het
Cand1 A T 10: 119,211,721 N621K probably damaging Het
Cd44 C T 2: 102,831,387 E418K possibly damaging Het
Clip2 A T 5: 134,502,571 N758K probably benign Het
Cst11 A T 2: 148,771,241 Y55N probably damaging Het
Cytip A T 2: 58,133,860 L316* probably null Het
Ddx52 T C 11: 83,952,231 M352T probably damaging Het
Fancd2 G A 6: 113,535,759 probably benign Het
Fat4 A T 3: 38,979,919 E2573D probably benign Het
Fbxl13 T G 5: 21,490,456 D646A probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Grid2ip A G 5: 143,388,909 D928G probably benign Het
Hmgxb3 A G 18: 61,132,213 L1231P probably damaging Het
Ifitm7 A G 16: 13,983,677 F73L probably damaging Het
Ikbkb T A 8: 22,665,903 T583S probably benign Het
Kdm6b G A 11: 69,406,067 A458V possibly damaging Het
Klra2 T C 6: 131,230,217 K143R probably benign Het
Kmt2d A G 15: 98,866,428 S42P possibly damaging Het
Krt78 T A 15: 101,948,593 M360L probably benign Het
Lamb1 A G 12: 31,300,251 N677S probably damaging Het
Lrrc9 G A 12: 72,510,381 V1407I probably benign Het
Myo6 A G 9: 80,260,831 T426A probably benign Het
Nlrp4d T A 7: 10,388,698 noncoding transcript Het
Notch4 A T 17: 34,568,471 N335I probably damaging Het
Olfr127 A T 17: 37,904,243 E232D probably benign Het
Olfr202 A T 16: 59,284,221 I92K probably damaging Het
Olfr920 A T 9: 38,756,488 T267S probably benign Het
Pax3 A T 1: 78,195,332 H80Q probably damaging Het
Pclo A T 5: 14,679,494 probably benign Het
Pdgfra A G 5: 75,187,906 D869G probably damaging Het
Per2 T C 1: 91,445,610 Y152C probably damaging Het
Pilrb2 T C 5: 137,866,863 D223G probably benign Het
Rag1 T A 2: 101,643,388 I470F probably damaging Het
Rap1gap T C 4: 137,718,006 S333P probably damaging Het
Rundc3b A G 5: 8,492,530 Y430H probably damaging Het
Ryr1 T C 7: 29,094,047 D1332G probably benign Het
Sgo1 G A 17: 53,679,539 A208V possibly damaging Het
Skint5 C T 4: 113,937,581 probably null Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc28a3 A T 13: 58,558,637 S597T probably benign Het
Slc4a5 T A 6: 83,271,103 probably benign Het
Slc52a3 A G 2: 152,005,528 probably benign Het
Stac3 A G 10: 127,503,899 D158G probably benign Het
Tdo2 T C 3: 81,963,917 probably benign Het
Usp25 A T 16: 77,115,447 E1018V probably damaging Het
Vmn1r46 T A 6: 89,976,904 F245Y probably damaging Het
Other mutations in Net1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Net1 APN 13 3893391 utr 5 prime probably benign
IGL02698:Net1 APN 13 3887569 critical splice donor site probably null
R0580:Net1 UTSW 13 3886612 missense probably damaging 1.00
R1028:Net1 UTSW 13 3884375 missense probably damaging 1.00
R1070:Net1 UTSW 13 3912930 missense probably benign 0.31
R1775:Net1 UTSW 13 3887642 missense probably damaging 1.00
R1834:Net1 UTSW 13 3912941 unclassified probably benign
R3968:Net1 UTSW 13 3907795 critical splice donor site probably null
R4056:Net1 UTSW 13 3884949 missense probably damaging 1.00
R4884:Net1 UTSW 13 3884252 nonsense probably null
R4937:Net1 UTSW 13 3884905 missense probably damaging 1.00
R5068:Net1 UTSW 13 3886740 missense probably benign 0.30
R5123:Net1 UTSW 13 3886623 missense probably damaging 0.97
R5389:Net1 UTSW 13 3886170 missense probably damaging 1.00
R5390:Net1 UTSW 13 3893379 missense probably benign 0.18
R5509:Net1 UTSW 13 3884320 missense probably benign 0.00
R6548:Net1 UTSW 13 3886074 intron probably null
R7056:Net1 UTSW 13 3884845 missense probably benign 0.00
R7138:Net1 UTSW 13 3888510 missense probably damaging 1.00
Posted On2015-04-16