Incidental Mutation 'R7905:Nf1'
ID 610232
Institutional Source Beutler Lab
Gene Symbol Nf1
Ensembl Gene ENSMUSG00000020716
Gene Name neurofibromin 1
Synonyms Nf-1, neurofibromin
MMRRC Submission 045957-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7905 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 79339693-79581612 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79547112 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 83 (A83T)
Ref Sequence ENSEMBL: ENSMUSP00000120982 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071325] [ENSMUST00000108251] [ENSMUST00000137997]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000071325
AA Change: A2099T

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000071289
Gene: ENSMUSG00000020716
AA Change: A2099T

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 damaging
Transcript: ENSMUST00000108251
AA Change: A2078T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103886
Gene: ENSMUSG00000020716
AA Change: A2078T

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 possibly damaging
Transcript: ENSMUST00000137997
AA Change: A83T

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120982
Gene: ENSMUSG00000020716
AA Change: A83T

DomainStartEndE-ValueType
low complexity region 604 614 N/A INTRINSIC
low complexity region 735 748 N/A INTRINSIC
Meta Mutation Damage Score 0.0995 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (44/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl9 T C 17: 33,433,827 (GRCm38) V287A possibly damaging Het
Adcy10 T A 1: 165,513,168 (GRCm38) probably null Het
Aox1 G A 1: 58,104,398 (GRCm38) S1225N possibly damaging Het
B430306N03Rik T A 17: 48,316,960 (GRCm38) S96R probably benign Het
Bpifa5 T C 2: 154,165,588 (GRCm38) I150T probably damaging Het
Ccdc28a A T 10: 18,218,328 (GRCm38) V181D probably benign Het
Cd40 T C 2: 165,062,325 (GRCm38) Y31H probably damaging Het
Cep290 A G 10: 100,554,490 (GRCm38) T2032A probably benign Het
Cnbd1 T C 4: 18,907,100 (GRCm38) K158R possibly damaging Het
Degs1 A C 1: 182,279,036 (GRCm38) N255K possibly damaging Het
Dll3 T G 7: 28,301,535 (GRCm38) I32L possibly damaging Het
Dsg4 A T 18: 20,454,669 (GRCm38) I278F probably damaging Het
Ets2 T A 16: 95,706,437 (GRCm38) I6N probably damaging Het
Gbp4 A G 5: 105,121,087 (GRCm38) F400S probably damaging Het
Golgb1 C T 16: 36,913,685 (GRCm38) A1139V probably benign Het
Hfm1 A T 5: 106,898,553 (GRCm38) L489H probably damaging Het
Kcna5 T C 6: 126,534,868 (GRCm38) D99G probably benign Het
Ldhc A G 7: 46,875,531 (GRCm38) probably null Het
Mief1 C G 15: 80,249,398 (GRCm38) P219A probably damaging Het
Myh11 A T 16: 14,207,681 (GRCm38) Y1408* probably null Het
Myo1b A G 1: 51,763,884 (GRCm38) probably null Het
Nedd4 A T 9: 72,677,379 (GRCm38) K121* probably null Het
Nek9 A C 12: 85,305,596 (GRCm38) M831R probably damaging Het
Or6c203 A T 10: 129,174,187 (GRCm38) I278N probably damaging Het
Osbpl10 T C 9: 115,062,010 (GRCm38) probably null Het
Pcdhb6 T C 18: 37,334,554 (GRCm38) L176P probably benign Het
Plxnb1 G A 9: 109,109,232 (GRCm38) V1285M probably damaging Het
Psg26 T A 7: 18,475,317 (GRCm38) M389L probably benign Het
Slc49a4 G A 16: 35,768,950 (GRCm38) P98S probably benign Het
Slc4a10 A G 2: 62,268,151 (GRCm38) E543G probably damaging Het
Spata31h1 A G 10: 82,296,102 (GRCm38) I358T probably benign Het
Spink7 G T 18: 62,592,416 (GRCm38) C85* probably null Het
Stard9 T C 2: 120,696,081 (GRCm38) W940R not run Het
Susd2 A T 10: 75,639,657 (GRCm38) L471* probably null Het
Taf2 A T 15: 55,047,432 (GRCm38) D615E possibly damaging Het
Taf4 G A 2: 179,932,029 (GRCm38) T682M probably damaging Het
Tfdp2 T C 9: 96,310,606 (GRCm38) S14P Het
Tha1 A C 11: 117,871,067 (GRCm38) V116G possibly damaging Het
Trim46 T C 3: 89,244,326 (GRCm38) H50R probably damaging Het
Trit1 A G 4: 123,016,715 (GRCm38) K36E probably damaging Het
Ttc13 A T 8: 124,688,596 (GRCm38) M268K probably benign Het
Ufc1 T A 1: 171,289,935 (GRCm38) K68N probably damaging Het
Zbbx T C 3: 75,085,513 (GRCm38) T225A probably benign Het
Zfp768 T C 7: 127,344,659 (GRCm38) E102G probably damaging 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
R7713:Nf1 UTSW 11 79,425,606 (GRCm38) missense probably benign
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
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'- ACGTGTGATGGAACTTTTAGTCTTA -3'
(R):5'- TATAGCAGTCTGGTAAGGTAAAGC -3'

Sequencing Primer
(F):5'- TCCCCAACTCCAACTTTAG -3'
(R):5'- TCTGGTAAGGTAAAGCTGAGAAAG -3'
Posted On 2019-12-20