Incidental Mutation 'IGL00886:Net1'
ID28816
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: 0.208) question?
Stock #IGL00886
Quality Score
Status
Chromosome13
Chromosomal Location3882018-3918220 bp(-) (GRCm38)
Type of Mutationutr 5 prime
DNA Base Change (assembly) A to G at 3893391 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091853] [ENSMUST00000099946] [ENSMUST00000222504]
Predicted Effect probably benign
Transcript: ENSMUST00000091853
SMART Domains Protein: ENSMUSP00000089464
Gene: ENSMUSG00000021215

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 benign
Transcript: ENSMUST00000099946
SMART Domains Protein: ENSMUSP00000097529
Gene: ENSMUSG00000021215

DomainStartEndE-ValueType
RhoGEF 124 301 2.84e-54 SMART
PH 333 449 5.79e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222017
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C T 11: 110,163,275 R67H possibly damaging Het
Ak4 G T 4: 101,447,189 E59* probably null Het
Ano10 T C 9: 122,271,324 N116S probably benign Het
Arid1b T A 17: 5,126,979 H658Q probably damaging Het
Atf2 G A 2: 73,845,503 T208I possibly damaging Het
Bco1 T C 8: 117,130,637 W448R probably damaging Het
Cel A T 2: 28,559,385 C277S probably damaging Het
Chd5 T A 4: 152,359,699 D296E probably benign Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Fmo9 T C 1: 166,680,145 probably null Het
Gdpgp1 T G 7: 80,239,352 L377R probably damaging Het
Gm26938 T A 5: 139,826,336 D3V probably damaging Het
Gpld1 T A 13: 24,962,353 Y193* probably null Het
Gtf2h4 T C 17: 35,669,982 H265R probably damaging Het
Hadh G T 3: 131,249,816 T83K probably benign Het
Hao1 T C 2: 134,523,159 M183V probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Ift88 T C 14: 57,478,068 Y523H probably damaging Het
Il23r G T 6: 67,473,890 Q202K possibly damaging Het
Iyd T C 10: 3,540,444 D50A probably benign Het
Katnal2 A T 18: 77,002,754 L248Q probably damaging Het
Krtap26-1 A T 16: 88,647,379 V118E possibly damaging Het
Lzic T C 4: 149,493,296 probably null Het
Mical2 T A 7: 112,315,072 N316K probably benign Het
Ndufc2 T A 7: 97,400,190 M1K probably null Het
Olfr309 G A 7: 86,307,051 L21F probably damaging Het
Pde1c A G 6: 56,173,674 Y287H probably damaging Het
Pitpnm1 T C 19: 4,110,665 probably null Het
Pla2r1 T A 2: 60,424,324 E1300V probably damaging Het
Polr3g T C 13: 81,694,677 Y73C probably damaging Het
Ryr1 T A 7: 29,024,229 E4137V probably damaging Het
Scrib T C 15: 76,048,794 D1425G possibly damaging Het
Slc25a12 A G 2: 71,344,032 Y23H possibly damaging Het
Spef2 C A 15: 9,663,095 G867W probably damaging Het
Strn3 A T 12: 51,610,150 Y698N probably damaging Het
Tldc1 T C 8: 119,773,268 probably benign Het
Ube3a T A 7: 59,284,737 F533I probably damaging Het
Other mutations in Net1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02271:Net1 APN 13 3887663 missense probably damaging 1.00
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 On2013-04-17