Incidental Mutation 'R7056:Net1'
ID 547942
Institutional Source Beutler Lab
Gene Symbol Net1
Ensembl Gene ENSMUSG00000021215
Gene Name neuroepithelial cell transforming gene 1
Synonyms Net1 homolog, 9530071N24Rik, 0610025H04Rik, mNET1
MMRRC Submission 045153-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # R7056 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 3932018-3968220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3934845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 394 (M394V)
Ref Sequence ENSEMBL: ENSMUSP00000097529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091853] [ENSMUST00000099946] [ENSMUST00000222504]
AlphaFold Q9Z206
Predicted Effect probably benign
Transcript: ENSMUST00000091853
AA Change: M448V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000089464
Gene: ENSMUSG00000021215
AA Change: M448V

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
AA Change: M394V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000097529
Gene: ENSMUSG00000021215
AA Change: M394V

DomainStartEndE-ValueType
RhoGEF 124 301 2.84e-54 SMART
PH 333 449 5.79e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000222504
Meta Mutation Damage Score 0.0854 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (62/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atr T A 9: 95,744,916 (GRCm39) S78T probably damaging Het
B2m T C 2: 121,981,465 (GRCm39) L60P probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cep350 A C 1: 155,724,373 (GRCm39) I3075S probably damaging Het
Cep97 A G 16: 55,725,935 (GRCm39) S651P probably damaging Het
Chrna5 C T 9: 54,888,985 (GRCm39) probably benign Het
Cog5 T C 12: 31,715,468 (GRCm39) V80A possibly damaging Het
Col9a2 G A 4: 120,906,913 (GRCm39) probably null Het
Cop1 C T 1: 159,077,647 (GRCm39) L161F probably damaging Het
Cyp4f17 A T 17: 32,746,846 (GRCm39) M383L possibly damaging Het
Dennd4a A G 9: 64,814,205 (GRCm39) D1474G possibly damaging Het
Dgkb A C 12: 38,150,492 (GRCm39) S100R probably benign Het
Dnah17 A G 11: 118,016,212 (GRCm39) V309A probably benign Het
Dner C A 1: 84,558,457 (GRCm39) R169L possibly damaging Het
Dus1l T C 11: 120,682,120 (GRCm39) E362G probably benign Het
Eed A T 7: 89,619,564 (GRCm39) S168T possibly damaging Het
Eif3a T A 19: 60,751,500 (GRCm39) probably null Het
Fam234b A G 6: 135,205,450 (GRCm39) S472G probably benign Het
Fbn2 T A 18: 58,209,798 (GRCm39) T1028S probably benign Het
Fbxw16 A G 9: 109,265,352 (GRCm39) V393A possibly damaging Het
Fig4 A T 10: 41,096,928 (GRCm39) L838Q probably benign Het
Gm13941 T G 2: 110,927,147 (GRCm39) S137R unknown Het
Gm9938 T G 19: 23,701,981 (GRCm39) probably benign Het
Igsf10 T G 3: 59,238,501 (GRCm39) D560A probably damaging Het
Lrrk2 T A 15: 91,659,198 (GRCm39) L1870* probably null Het
Mep1b T A 18: 21,224,247 (GRCm39) Y347N probably damaging Het
Mepce T C 5: 137,780,968 (GRCm39) N613D probably damaging Het
Mgat3 T G 15: 80,096,097 (GRCm39) L308R probably damaging Het
Morc2a A G 11: 3,625,925 (GRCm39) Y175C probably damaging Het
Necab2 A G 8: 120,178,878 (GRCm39) N98S probably benign Het
Nfat5 G A 8: 108,094,738 (GRCm39) G993D probably damaging Het
Obscn C A 11: 58,887,122 (GRCm39) probably benign Het
Olr1 T C 6: 129,465,904 (GRCm39) H34R probably damaging Het
Or2ab1 A G 11: 58,489,044 (GRCm39) Y274C probably damaging Het
Or4f60 T C 2: 111,902,662 (GRCm39) N89D probably benign Het
Pmm2 T A 16: 8,460,628 (GRCm39) F27L probably damaging Het
Ptpdc1 C A 13: 48,740,466 (GRCm39) V261F possibly damaging Het
Pyroxd1 G T 6: 142,304,808 (GRCm39) R345L probably benign Het
Radil A T 5: 142,480,109 (GRCm39) C670* probably null Het
Rasgrf2 C T 13: 92,167,203 (GRCm39) S290N probably damaging Het
Rbm33 T C 5: 28,599,001 (GRCm39) probably benign Het
Rnf111 A T 9: 70,360,957 (GRCm39) S501R possibly damaging Het
Sel1l2 T A 2: 140,087,334 (GRCm39) I446F probably benign Het
Sh3pxd2b T C 11: 32,372,737 (GRCm39) S635P probably benign Het
Slc30a2 G A 4: 134,074,726 (GRCm39) R161Q probably damaging Het
Smg1 T C 7: 117,745,623 (GRCm39) probably benign Het
Sorcs2 C A 5: 36,225,474 (GRCm39) D132Y probably damaging Het
Sox18 T C 2: 181,313,280 (GRCm39) D12G probably damaging Het
Srsf4 G T 4: 131,628,004 (GRCm39) probably benign Het
Susd4 C A 1: 182,660,721 (GRCm39) T81N probably benign Het
Tmem256 G T 11: 69,729,416 (GRCm39) probably benign Het
Tor4a T C 2: 25,084,853 (GRCm39) H350R probably benign Het
Ugt2a3 T A 5: 87,484,953 (GRCm39) S24C probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r77 C T 7: 86,451,023 (GRCm39) T303I probably benign Het
Wdr70 T A 15: 7,913,877 (GRCm39) I591F possibly damaging Het
Wdr93 T C 7: 79,399,088 (GRCm39) I74T probably damaging Het
Zfp292 A T 4: 34,809,784 (GRCm39) C1087S probably damaging Het
Zfp592 T A 7: 80,673,067 (GRCm39) D10E probably damaging Het
Zfp69 A G 4: 120,788,295 (GRCm39) V340A probably benign Het
Zswim2 C T 2: 83,751,092 (GRCm39) probably null Het
Other mutations in Net1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Net1 APN 13 3,943,391 (GRCm39) utr 5 prime probably benign
IGL02271:Net1 APN 13 3,937,663 (GRCm39) missense probably damaging 1.00
IGL02698:Net1 APN 13 3,937,569 (GRCm39) critical splice donor site probably null
Rete UTSW 13 3,934,845 (GRCm39) missense probably benign 0.00
R0580:Net1 UTSW 13 3,936,612 (GRCm39) missense probably damaging 1.00
R1028:Net1 UTSW 13 3,934,375 (GRCm39) missense probably damaging 1.00
R1070:Net1 UTSW 13 3,962,930 (GRCm39) missense probably benign 0.31
R1775:Net1 UTSW 13 3,937,642 (GRCm39) missense probably damaging 1.00
R1834:Net1 UTSW 13 3,962,941 (GRCm39) unclassified probably benign
R3968:Net1 UTSW 13 3,957,795 (GRCm39) critical splice donor site probably null
R4056:Net1 UTSW 13 3,934,949 (GRCm39) missense probably damaging 1.00
R4884:Net1 UTSW 13 3,934,252 (GRCm39) nonsense probably null
R4937:Net1 UTSW 13 3,934,905 (GRCm39) missense probably damaging 1.00
R5068:Net1 UTSW 13 3,936,740 (GRCm39) missense probably benign 0.30
R5123:Net1 UTSW 13 3,936,623 (GRCm39) missense probably damaging 0.97
R5389:Net1 UTSW 13 3,936,170 (GRCm39) missense probably damaging 1.00
R5390:Net1 UTSW 13 3,943,379 (GRCm39) missense probably benign 0.18
R5509:Net1 UTSW 13 3,934,320 (GRCm39) missense probably benign 0.00
R6548:Net1 UTSW 13 3,936,074 (GRCm39) splice site probably null
R7138:Net1 UTSW 13 3,938,510 (GRCm39) missense probably damaging 1.00
R8314:Net1 UTSW 13 3,962,672 (GRCm39) intron probably benign
R8317:Net1 UTSW 13 3,957,856 (GRCm39) missense possibly damaging 0.86
R8375:Net1 UTSW 13 3,943,458 (GRCm39) unclassified probably benign
R8854:Net1 UTSW 13 3,934,214 (GRCm39) missense probably benign
R9070:Net1 UTSW 13 3,936,103 (GRCm39) missense probably damaging 1.00
R9569:Net1 UTSW 13 3,938,518 (GRCm39) missense probably benign 0.01
R9623:Net1 UTSW 13 3,937,569 (GRCm39) critical splice donor site probably null
RF006:Net1 UTSW 13 3,937,406 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TGTGCCAGCATATGACTGGG -3'
(R):5'- CATGAGATCACTATTCTATGCCGTG -3'

Sequencing Primer
(F):5'- TTCAAAATGCTAAGGGTTGAGTC -3'
(R):5'- GAAATGAGCGCCACTTGT -3'
Posted On 2019-05-13