Incidental Mutation 'R7713:Nf1'
ID 594742
Institutional Source Beutler Lab
Gene Symbol Nf1
Ensembl Gene ENSMUSG00000020716
Gene Name neurofibromin 1
Synonyms Nf-1, neurofibromin
MMRRC Submission 045771-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7713 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 79339693-79581612 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79425606 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 496 (M496V)
Ref Sequence ENSEMBL: ENSMUSP00000071289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071325] [ENSMUST00000108251] [ENSMUST00000219057]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000071325
AA Change: M496V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071289
Gene: ENSMUSG00000020716
AA Change: M496V

DomainStartEndE-ValueType
RasGAP 1189 1559 2.56e-151 SMART
SEC14 1585 1737 2.36e-11 SMART
low complexity region 2619 2629 N/A INTRINSIC
low complexity region 2750 2763 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108251
AA Change: M496V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103886
Gene: ENSMUSG00000020716
AA Change: M496V

DomainStartEndE-ValueType
RasGAP 1189 1538 1.23e-153 SMART
SEC14 1564 1716 2.36e-11 SMART
low complexity region 2598 2608 N/A INTRINSIC
low complexity region 2729 2742 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000219057
AA Change: M506V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous embryos die by day 14.5 with enlarged head and chest, pale liver, microphthalmia, cardiac defects and delayed organ development. Heterozygotes have elevated astrocyte number, predisposition to multiple tumor types and learning/memory deficits. [provided by MGI curators]
Allele List at MGI

All alleles(23) : Targeted, knock-out(4) Targeted, other(3) Gene trapped(16)

Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,230,311 (GRCm38) S119P possibly damaging Het
Agtpbp1 T A 13: 59,514,152 (GRCm38) I282F probably damaging Het
Armh1 A T 4: 117,214,228 (GRCm38) M355K possibly damaging Het
Cep128 A T 12: 91,019,322 (GRCm38) D1013E probably benign Het
Clock A T 5: 76,245,420 (GRCm38) probably null Het
Cspg4b T G 13: 113,346,541 (GRCm38) V1559G Het
D630003M21Rik G A 2: 158,216,778 (GRCm38) Q401* probably null Het
Dnah17 C A 11: 118,025,171 (GRCm38) V4302L probably benign Het
Drc3 A G 11: 60,370,560 (GRCm38) Y179C probably benign Het
Erbb3 T C 10: 128,574,449 (GRCm38) T647A probably benign Het
Esrp2 T C 8: 106,134,276 (GRCm38) T205A probably benign Het
Fbxw7 T C 3: 84,967,565 (GRCm38) probably null Het
Fmn1 C T 2: 113,525,814 (GRCm38) P965S unknown Het
Fndc7 C T 3: 108,870,663 (GRCm38) V412M possibly damaging Het
G2e3 C A 12: 51,369,056 (GRCm38) A525E probably damaging Het
Gcfc2 C T 6: 81,941,390 (GRCm38) R354C probably damaging Het
Ggt1 T A 10: 75,585,674 (GRCm38) N510K probably damaging Het
Gnas C T 2: 174,299,027 (GRCm38) T389I unknown Het
Hapln3 C T 7: 79,117,373 (GRCm38) R306H probably benign Het
Hydin T C 8: 110,593,812 (GRCm38) L4496P possibly damaging Het
Iqgap2 T A 13: 95,731,444 (GRCm38) I219L probably benign Het
Kcnj2 T C 11: 111,072,483 (GRCm38) S234P probably benign Het
Lipf T A 19: 33,973,065 (GRCm38) S286T probably damaging Het
Lrrc32 G T 7: 98,499,338 (GRCm38) G442W probably damaging Het
Megf10 GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA GGCAGCAACAGCACCAGCAGCA 18: 57,293,999 (GRCm38) probably benign Het
Mtmr4 T C 11: 87,597,724 (GRCm38) V68A probably damaging Het
Mug2 T C 6: 122,078,795 (GRCm38) S1146P possibly damaging Het
Naa35 T C 13: 59,598,105 (GRCm38) I75T probably benign Het
Nepn T A 10: 52,401,178 (GRCm38) F337I probably benign Het
Nthl1 A T 17: 24,638,657 (GRCm38) I277F possibly damaging Het
Or10a3 A C 7: 108,880,682 (GRCm38) I308S probably damaging Het
Or4p8 T C 2: 88,897,778 (GRCm38) probably benign Het
Osr1 A T 12: 9,579,253 (GRCm38) Y42F probably damaging Het
Rad54l2 G A 9: 106,717,223 (GRCm38) R369W probably damaging Het
Ryr3 T A 2: 112,635,346 (GRCm38) T4828S probably benign Het
Slc25a54 T A 3: 109,102,817 (GRCm38) C211S probably damaging Het
Ube4b C T 4: 149,398,781 (GRCm38) R10Q possibly damaging Het
Usp9y G A Y: 1,304,411 (GRCm38) Q2440* probably null Het
Yars1 G T 4: 129,210,498 (GRCm38) V312L probably benign Het
Zfp26 G A 9: 20,441,334 (GRCm38) T145I probably benign Het
Zic5 T C 14: 122,464,113 (GRCm38) N402S unknown Het
Other mutations in Nf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00225:Nf1 APN 11 79,395,905 (GRCm38) missense probably damaging 0.99
IGL00801:Nf1 APN 11 79,428,700 (GRCm38) splice site probably benign
IGL00823:Nf1 APN 11 79,565,517 (GRCm38) missense probably damaging 1.00
IGL00945:Nf1 APN 11 79,469,803 (GRCm38) missense probably damaging 0.99
IGL00960:Nf1 APN 11 79,445,121 (GRCm38) missense probably damaging 1.00
IGL01118:Nf1 APN 11 79,546,986 (GRCm38) missense probably damaging 0.99
IGL01604:Nf1 APN 11 79,441,709 (GRCm38) splice site probably benign
IGL01637:Nf1 APN 11 79,547,120 (GRCm38) missense probably damaging 1.00
IGL01659:Nf1 APN 11 79,559,449 (GRCm38) missense probably benign
IGL01764:Nf1 APN 11 79,384,187 (GRCm38) missense probably benign
IGL01772:Nf1 APN 11 79,390,249 (GRCm38) missense probably damaging 1.00
IGL02047:Nf1 APN 11 79,425,535 (GRCm38) missense probably benign 0.04
IGL02052:Nf1 APN 11 79,412,727 (GRCm38) missense probably damaging 1.00
IGL02071:Nf1 APN 11 79,444,121 (GRCm38) missense possibly damaging 0.96
IGL02312:Nf1 APN 11 79,444,648 (GRCm38) missense possibly damaging 0.95
IGL02341:Nf1 APN 11 79,564,926 (GRCm38) missense probably benign 0.33
IGL02390:Nf1 APN 11 79,565,935 (GRCm38) missense possibly damaging 0.64
IGL02390:Nf1 APN 11 79,411,676 (GRCm38) splice site probably benign
IGL02475:Nf1 APN 11 79,535,667 (GRCm38) missense probably damaging 1.00
IGL02567:Nf1 APN 11 79,547,143 (GRCm38) missense probably damaging 1.00
IGL02571:Nf1 APN 11 79,428,627 (GRCm38) missense probably damaging 1.00
IGL02664:Nf1 APN 11 79,444,598 (GRCm38) critical splice acceptor site probably null
IGL02664:Nf1 APN 11 79,444,599 (GRCm38) critical splice acceptor site probably null
IGL02992:Nf1 APN 11 79,434,933 (GRCm38) splice site probably benign
IGL03006:Nf1 APN 11 79,545,431 (GRCm38) missense probably damaging 1.00
IGL03216:Nf1 APN 11 79,564,895 (GRCm38) missense probably benign 0.17
Diesel UTSW 11 79,556,723 (GRCm38) missense probably damaging 0.96
Eyecandy UTSW 11 79,545,465 (GRCm38) missense probably damaging 1.00
Franklin UTSW 11 79,473,320 (GRCm38) splice site probably null
Gasoline UTSW 11 79,556,789 (GRCm38) missense probably benign 0.17
hancock UTSW 11 79,536,850 (GRCm38) missense probably benign
independence UTSW 11 79,454,310 (GRCm38) intron probably benign
jackson UTSW 11 79,447,572 (GRCm38) missense probably damaging 1.00
Jefferson UTSW 11 79,446,864 (GRCm38) missense probably damaging 1.00
Phyletic_dwarf UTSW 11 79,454,189 (GRCm38) missense probably damaging 1.00
responsibility UTSW 11 79,565,975 (GRCm38) missense probably damaging 0.99
weepy UTSW 11 79,546,986 (GRCm38) missense probably damaging 1.00
C9142:Nf1 UTSW 11 79,556,731 (GRCm38) missense probably damaging 0.98
I2289:Nf1 UTSW 11 79,547,776 (GRCm38) missense probably damaging 1.00
R0055:Nf1 UTSW 11 79,471,551 (GRCm38) missense probably damaging 1.00
R0055:Nf1 UTSW 11 79,471,551 (GRCm38) missense probably damaging 1.00
R0081:Nf1 UTSW 11 79,453,979 (GRCm38) splice site probably benign
R0115:Nf1 UTSW 11 79,468,876 (GRCm38) critical splice donor site probably null
R0144:Nf1 UTSW 11 79,547,127 (GRCm38) missense probably damaging 1.00
R0196:Nf1 UTSW 11 79,578,272 (GRCm38) missense probably damaging 1.00
R0196:Nf1 UTSW 11 79,468,769 (GRCm38) missense possibly damaging 0.94
R0217:Nf1 UTSW 11 79,428,574 (GRCm38) splice site probably benign
R0238:Nf1 UTSW 11 79,418,574 (GRCm38) missense possibly damaging 0.89
R0238:Nf1 UTSW 11 79,418,574 (GRCm38) missense possibly damaging 0.89
R0239:Nf1 UTSW 11 79,418,574 (GRCm38) missense possibly damaging 0.89
R0239:Nf1 UTSW 11 79,418,574 (GRCm38) missense possibly damaging 0.89
R0255:Nf1 UTSW 11 79,408,699 (GRCm38) splice site probably null
R0362:Nf1 UTSW 11 79,536,878 (GRCm38) missense probably damaging 1.00
R0364:Nf1 UTSW 11 79,441,957 (GRCm38) nonsense probably null
R0464:Nf1 UTSW 11 79,556,789 (GRCm38) missense probably benign 0.17
R0511:Nf1 UTSW 11 79,438,769 (GRCm38) missense probably benign 0.01
R0549:Nf1 UTSW 11 79,468,771 (GRCm38) missense probably damaging 0.99
R0585:Nf1 UTSW 11 79,568,701 (GRCm38) missense probably damaging 0.99
R0636:Nf1 UTSW 11 79,535,703 (GRCm38) missense probably damaging 0.99
R0924:Nf1 UTSW 11 79,453,866 (GRCm38) missense probably damaging 0.98
R0942:Nf1 UTSW 11 79,438,711 (GRCm38) missense probably benign 0.00
R1022:Nf1 UTSW 11 79,547,033 (GRCm38) missense probably damaging 1.00
R1024:Nf1 UTSW 11 79,547,033 (GRCm38) missense probably damaging 1.00
R1350:Nf1 UTSW 11 79,412,687 (GRCm38) missense probably damaging 1.00
R1365:Nf1 UTSW 11 79,547,885 (GRCm38) splice site probably null
R1395:Nf1 UTSW 11 79,535,983 (GRCm38) missense possibly damaging 0.49
R1467:Nf1 UTSW 11 79,428,626 (GRCm38) missense possibly damaging 0.88
R1467:Nf1 UTSW 11 79,428,626 (GRCm38) missense possibly damaging 0.88
R1477:Nf1 UTSW 11 79,395,859 (GRCm38) nonsense probably null
R1508:Nf1 UTSW 11 79,440,909 (GRCm38) missense probably damaging 1.00
R1512:Nf1 UTSW 11 79,390,369 (GRCm38) missense probably damaging 1.00
R1605:Nf1 UTSW 11 79,440,923 (GRCm38) missense probably benign 0.01
R1680:Nf1 UTSW 11 79,550,998 (GRCm38) nonsense probably null
R1704:Nf1 UTSW 11 79,463,301 (GRCm38) splice site probably null
R1707:Nf1 UTSW 11 79,535,604 (GRCm38) missense probably damaging 1.00
R1741:Nf1 UTSW 11 79,443,931 (GRCm38) missense probably benign
R1761:Nf1 UTSW 11 79,384,265 (GRCm38) missense probably damaging 1.00
R1800:Nf1 UTSW 11 79,553,968 (GRCm38) missense possibly damaging 0.94
R1873:Nf1 UTSW 11 79,547,161 (GRCm38) missense probably damaging 1.00
R1966:Nf1 UTSW 11 79,411,564 (GRCm38) missense possibly damaging 0.72
R1967:Nf1 UTSW 11 79,412,745 (GRCm38) missense probably damaging 0.96
R1970:Nf1 UTSW 11 79,553,961 (GRCm38) missense probably benign 0.08
R2059:Nf1 UTSW 11 79,556,723 (GRCm38) missense probably damaging 0.96
R2105:Nf1 UTSW 11 79,469,826 (GRCm38) missense possibly damaging 0.50
R2151:Nf1 UTSW 11 79,447,570 (GRCm38) missense possibly damaging 0.94
R2211:Nf1 UTSW 11 79,444,064 (GRCm38) missense probably benign 0.39
R2497:Nf1 UTSW 11 79,443,884 (GRCm38) missense probably damaging 1.00
R2899:Nf1 UTSW 11 79,412,758 (GRCm38) missense possibly damaging 0.93
R3086:Nf1 UTSW 11 79,546,986 (GRCm38) missense probably damaging 1.00
R3120:Nf1 UTSW 11 79,564,899 (GRCm38) missense probably damaging 0.99
R3744:Nf1 UTSW 11 79,548,747 (GRCm38) missense probably benign 0.23
R3801:Nf1 UTSW 11 79,559,521 (GRCm38) missense probably null 0.98
R3804:Nf1 UTSW 11 79,559,521 (GRCm38) missense probably null 0.98
R4212:Nf1 UTSW 11 79,469,798 (GRCm38) missense probably damaging 1.00
R4298:Nf1 UTSW 11 79,384,244 (GRCm38) missense probably damaging 1.00
R4578:Nf1 UTSW 11 79,445,759 (GRCm38) missense probably damaging 1.00
R4579:Nf1 UTSW 11 79,468,757 (GRCm38) missense probably damaging 1.00
R4587:Nf1 UTSW 11 79,536,037 (GRCm38) critical splice donor site probably null
R4793:Nf1 UTSW 11 79,447,572 (GRCm38) missense probably damaging 1.00
R4834:Nf1 UTSW 11 79,546,297 (GRCm38) missense probably damaging 1.00
R4863:Nf1 UTSW 11 79,409,409 (GRCm38) missense probably damaging 1.00
R4967:Nf1 UTSW 11 79,565,553 (GRCm38) critical splice donor site probably null
R4971:Nf1 UTSW 11 79,444,643 (GRCm38) missense probably damaging 1.00
R5034:Nf1 UTSW 11 79,444,150 (GRCm38) missense probably damaging 0.98
R5036:Nf1 UTSW 11 79,446,864 (GRCm38) missense probably damaging 1.00
R5207:Nf1 UTSW 11 79,454,189 (GRCm38) missense probably damaging 1.00
R5348:Nf1 UTSW 11 79,564,899 (GRCm38) missense probably damaging 1.00
R5356:Nf1 UTSW 11 79,473,456 (GRCm38) missense possibly damaging 0.94
R5444:Nf1 UTSW 11 79,443,959 (GRCm38) missense possibly damaging 0.94
R5533:Nf1 UTSW 11 79,445,789 (GRCm38) missense probably damaging 0.99
R5918:Nf1 UTSW 11 79,569,222 (GRCm38) intron probably benign
R5978:Nf1 UTSW 11 79,540,419 (GRCm38) missense probably damaging 1.00
R6140:Nf1 UTSW 11 79,473,320 (GRCm38) splice site probably null
R6195:Nf1 UTSW 11 79,565,975 (GRCm38) missense probably damaging 0.99
R6216:Nf1 UTSW 11 79,411,607 (GRCm38) missense possibly damaging 0.93
R6233:Nf1 UTSW 11 79,565,975 (GRCm38) missense probably damaging 0.99
R6257:Nf1 UTSW 11 79,549,491 (GRCm38) missense probably damaging 1.00
R6258:Nf1 UTSW 11 79,565,755 (GRCm38) splice site probably null
R6756:Nf1 UTSW 11 79,444,587 (GRCm38) splice site probably null
R6878:Nf1 UTSW 11 79,434,882 (GRCm38) missense probably damaging 1.00
R6959:Nf1 UTSW 11 79,549,468 (GRCm38) missense probably damaging 0.98
R7007:Nf1 UTSW 11 79,447,023 (GRCm38) splice site probably null
R7066:Nf1 UTSW 11 79,556,720 (GRCm38) missense probably damaging 1.00
R7099:Nf1 UTSW 11 79,570,330 (GRCm38) missense probably benign 0.08
R7213:Nf1 UTSW 11 79,469,819 (GRCm38) missense probably benign 0.23
R7326:Nf1 UTSW 11 79,564,943 (GRCm38) missense probably benign
R7348:Nf1 UTSW 11 79,536,850 (GRCm38) missense probably benign
R7380:Nf1 UTSW 11 79,546,276 (GRCm38) missense probably damaging 1.00
R7407:Nf1 UTSW 11 79,448,143 (GRCm38) missense probably damaging 1.00
R7412:Nf1 UTSW 11 79,473,414 (GRCm38) missense probably damaging 1.00
R7545:Nf1 UTSW 11 79,409,524 (GRCm38) missense probably benign
R7567:Nf1 UTSW 11 79,547,226 (GRCm38) missense probably damaging 0.99
R7574:Nf1 UTSW 11 79,408,769 (GRCm38) missense probably null 0.99
R7616:Nf1 UTSW 11 79,384,266 (GRCm38) missense probably damaging 0.97
R7737:Nf1 UTSW 11 79,545,488 (GRCm38) missense probably benign 0.33
R7869:Nf1 UTSW 11 79,418,588 (GRCm38) missense probably damaging 1.00
R7905:Nf1 UTSW 11 79,547,112 (GRCm38) missense possibly damaging 0.80
R8232:Nf1 UTSW 11 79,578,331 (GRCm38) missense probably damaging 0.96
R8244:Nf1 UTSW 11 79,440,924 (GRCm38) missense probably benign
R8397:Nf1 UTSW 11 79,547,692 (GRCm38) missense probably damaging 1.00
R8436:Nf1 UTSW 11 79,458,883 (GRCm38) missense probably damaging 0.99
R8492:Nf1 UTSW 11 79,408,422 (GRCm38) missense probably benign 0.06
R8719:Nf1 UTSW 11 79,390,293 (GRCm38) missense possibly damaging 0.86
R8735:Nf1 UTSW 11 79,454,310 (GRCm38) intron probably benign
R8795:Nf1 UTSW 11 79,425,616 (GRCm38) missense probably damaging 1.00
R8797:Nf1 UTSW 11 79,475,885 (GRCm38) critical splice donor site probably benign
R8809:Nf1 UTSW 11 79,547,138 (GRCm38) missense probably damaging 0.99
R8812:Nf1 UTSW 11 79,546,354 (GRCm38) missense probably damaging 0.96
R8815:Nf1 UTSW 11 79,441,665 (GRCm38) missense probably damaging 1.00
R8828:Nf1 UTSW 11 79,395,853 (GRCm38) critical splice acceptor site probably null
R8894:Nf1 UTSW 11 79,445,793 (GRCm38) missense probably damaging 1.00
R9051:Nf1 UTSW 11 79,473,342 (GRCm38) missense probably damaging 1.00
R9103:Nf1 UTSW 11 79,559,506 (GRCm38) missense probably damaging 0.99
R9142:Nf1 UTSW 11 79,475,862 (GRCm38) missense probably damaging 1.00
R9142:Nf1 UTSW 11 79,471,489 (GRCm38) missense probably damaging 1.00
R9170:Nf1 UTSW 11 79,545,465 (GRCm38) missense probably damaging 1.00
R9201:Nf1 UTSW 11 79,570,330 (GRCm38) missense probably benign 0.08
R9267:Nf1 UTSW 11 79,440,890 (GRCm38) missense possibly damaging 0.72
R9309:Nf1 UTSW 11 79,468,769 (GRCm38) missense possibly damaging 0.94
R9340:Nf1 UTSW 11 79,556,803 (GRCm38) missense possibly damaging 0.90
R9398:Nf1 UTSW 11 79,547,192 (GRCm38) missense probably damaging 0.99
R9471:Nf1 UTSW 11 79,545,369 (GRCm38) missense probably damaging 0.99
R9630:Nf1 UTSW 11 79,411,644 (GRCm38) missense probably damaging 1.00
R9664:Nf1 UTSW 11 79,443,907 (GRCm38) missense probably damaging 1.00
X0052:Nf1 UTSW 11 79,559,416 (GRCm38) missense probably damaging 0.99
Z1177:Nf1 UTSW 11 79,564,925 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCAGTATCATACATTTGGTGGTATG -3'
(R):5'- CAGTTCAATGCGGAGGGAAC -3'

Sequencing Primer
(F):5'- GTTTCTAAGGTGATGCCATG -3'
(R):5'- TCAATGCGGAGGGAACGGTTAG -3'
Posted On 2019-11-12