Incidental Mutation 'R3968:Net1'
ID 312451
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 040936-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.239) question?
Stock # R3968 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 3932018-3968220 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 3957795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000089464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091853] [ENSMUST00000091853]
AlphaFold Q9Z206
Predicted Effect probably null
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 null
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
Meta Mutation Damage Score 0.9489 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.1%
Validation Efficiency 98% (40/41)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef12 C A 9: 42,916,847 (GRCm39) R432L probably damaging Het
Camk4 T A 18: 33,312,634 (GRCm39) I258N possibly damaging Het
Cdhr2 A T 13: 54,874,271 (GRCm39) N781I probably damaging Het
Cela1 C T 15: 100,582,534 (GRCm39) G93S probably damaging Het
Commd9 C A 2: 101,727,486 (GRCm39) N93K probably benign Het
Cysltr2 A G 14: 73,267,614 (GRCm39) I32T probably damaging Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Fcho2 A T 13: 98,871,564 (GRCm39) S551T probably benign Het
Fzd8 T C 18: 9,214,070 (GRCm39) V384A probably damaging Het
Gm14401 T C 2: 176,778,789 (GRCm39) Y292H possibly damaging Het
H2-M2 C T 17: 37,792,197 (GRCm39) G318S possibly damaging Het
Il21r G T 7: 125,227,215 (GRCm39) probably null Het
Itgam T C 7: 127,712,205 (GRCm39) Y697H probably damaging Het
Itpkb A T 1: 180,155,363 (GRCm39) probably benign Het
Lama3 A T 18: 12,713,398 (GRCm39) K3230M probably damaging Het
Ly75 T C 2: 60,158,217 (GRCm39) I1023V possibly damaging Het
Narf A T 11: 121,129,247 (GRCm39) E10D possibly damaging Het
Nlrx1 A T 9: 44,166,722 (GRCm39) probably benign Het
Oard1 T C 17: 48,722,282 (GRCm39) Y93H probably damaging Het
Or4n5 A T 14: 50,132,983 (GRCm39) I92N probably damaging Het
Or8b54 A G 9: 38,686,664 (GRCm39) T38A probably benign Het
Pcm1 T C 8: 41,778,867 (GRCm39) L1825P probably damaging Het
Pecr G A 1: 72,315,468 (GRCm39) T94I probably damaging Het
Piezo2 A T 18: 63,144,767 (GRCm39) V2776E probably damaging Het
Pik3r2 G A 8: 71,223,065 (GRCm39) R452C probably benign Het
Ppfia2 T A 10: 106,742,382 (GRCm39) D1058E probably damaging Het
Ppl T C 16: 4,918,196 (GRCm39) probably null Het
Rab39 G A 9: 53,597,932 (GRCm39) A111V possibly damaging Het
Sema3g T C 14: 30,948,478 (GRCm39) probably null Het
Slc19a1 T C 10: 76,877,680 (GRCm39) Y72H probably damaging Het
Sntb2 T A 8: 107,723,772 (GRCm39) Y340* probably null Het
Srrm4 A G 5: 116,582,803 (GRCm39) probably benign Het
Ssb C T 2: 69,697,793 (GRCm39) probably benign Het
Sval2 T A 6: 41,838,861 (GRCm39) V14E probably damaging Het
Tmc2 T G 2: 130,043,991 (GRCm39) V75G probably benign Het
Tnnc2 T C 2: 164,619,457 (GRCm39) E129G possibly damaging Het
Vmn2r94 C A 17: 18,478,647 (GRCm39) Q33H possibly damaging Het
Yap1 C T 9: 7,973,877 (GRCm39) R188Q probably damaging 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
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
R7056:Net1 UTSW 13 3,934,845 (GRCm39) missense probably benign 0.00
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'- TGACCAAGGCAATCTGTGAGG -3'
(R):5'- GTCCAGAGACAATTTGGAATTTCCC -3'

Sequencing Primer
(F):5'- CAAACTGTTTATCAACTGGGGGCC -3'
(R):5'- CATATGCACCTGCGTGTGTACAG -3'
Posted On 2015-04-29