Incidental Mutation 'IGL03006:Nf1'
ID 407557
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nf1
Ensembl Gene ENSMUSG00000020716
Gene Name neurofibromin 1
Synonyms Nf-1, neurofibromin
Accession Numbers

Genbank: NM_010897; MGI: 97306

Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03006
Quality Score
Status
Chromosome 11
Chromosomal Location 79339693-79581612 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79545431 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 1966 (D1966N)
Ref Sequence ENSEMBL: ENSMUSP00000071289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071325] [ENSMUST00000108251] [ENSMUST00000137997]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000071325
AA Change: D1966N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071289
Gene: ENSMUSG00000020716
AA Change: D1966N

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: D1945N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103886
Gene: ENSMUSG00000020716
AA Change: D1945N

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: ENSMUST00000137997
SMART Domains Protein: ENSMUSP00000120982
Gene: ENSMUSG00000020716

DomainStartEndE-ValueType
low complexity region 604 614 N/A INTRINSIC
low complexity region 735 748 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146699
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 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
1700012B07Rik T A 11: 109,827,845 (GRCm38) S21C probably damaging Het
1700037H04Rik A C 2: 131,151,714 (GRCm38) D22E probably damaging Het
2210408I21Rik T C 13: 77,323,772 (GRCm38) probably null Het
Abcc3 T C 11: 94,368,595 (GRCm38) D340G probably benign Het
Adamts17 G T 7: 67,078,347 (GRCm38) R879L possibly damaging Het
Cacna1f C A X: 7,626,903 (GRCm38) T1275K probably damaging Het
Csmd2 T A 4: 128,480,765 (GRCm38) probably benign Het
Dll1 C T 17: 15,373,592 (GRCm38) R171Q probably benign Het
Dnm1 T A 2: 32,353,121 (GRCm38) D30V possibly damaging Het
Fam184a G A 10: 53,698,697 (GRCm38) S216L probably damaging Het
Fbxo33 G A 12: 59,204,319 (GRCm38) A470V probably benign Het
Gm6401 C T 14: 41,966,894 (GRCm38) E73K possibly damaging Het
Ighv7-1 A T 12: 113,896,525 (GRCm38) S82R probably damaging Het
Klk1b4 A G 7: 44,211,595 (GRCm38) I221V probably benign Het
Lama3 T C 18: 12,468,368 (GRCm38) probably benign Het
Lrch1 A G 14: 74,813,620 (GRCm38) L359P probably damaging Het
Mapk8ip3 T C 17: 24,901,515 (GRCm38) T882A probably benign Het
Med12 C T X: 101,278,078 (GRCm38) R456W probably damaging Het
Mms22l T C 4: 24,521,253 (GRCm38) S267P probably damaging Het
Mtpap G A 18: 4,375,721 (GRCm38) G34R possibly damaging Het
Nlrp9c G A 7: 26,372,082 (GRCm38) T867I probably damaging Het
Nrap C T 19: 56,347,164 (GRCm38) V941I probably benign Het
Olfr172 T A 16: 58,761,148 (GRCm38) K9N probably benign Het
Pcdh10 A G 3: 45,379,502 (GRCm38) I84V probably damaging Het
Polr3d T A 14: 70,441,163 (GRCm38) probably null Het
Prkar2a G T 9: 108,740,441 (GRCm38) V233L probably benign Het
Prl4a1 T C 13: 28,023,376 (GRCm38) V211A probably damaging Het
Qpct T C 17: 79,070,722 (GRCm38) V107A probably benign Het
Rai1 T C 11: 60,188,205 (GRCm38) S1032P possibly damaging Het
Rims1 G T 1: 22,296,954 (GRCm38) T1113K probably damaging Het
Rxra C T 2: 27,759,645 (GRCm38) T454I probably damaging Het
S100z T C 13: 95,478,619 (GRCm38) I13V probably damaging Het
Scp2 T C 4: 108,091,280 (GRCm38) K167E probably benign Het
Sephs2 A G 7: 127,273,034 (GRCm38) F296L probably benign Het
Setd1b A G 5: 123,148,451 (GRCm38) E520G unknown Het
Slc28a2 G A 2: 122,452,538 (GRCm38) V308M possibly damaging Het
Smarcad1 T A 6: 65,083,889 (GRCm38) I451K probably benign Het
Tarbp1 C T 8: 126,444,142 (GRCm38) D1040N probably damaging Het
Tdrd6 T C 17: 43,625,432 (GRCm38) D1575G probably damaging Het
Tll1 T A 8: 64,074,217 (GRCm38) probably benign Het
Tsks A T 7: 44,950,774 (GRCm38) probably benign Het
Ttc1 A T 11: 43,745,320 (GRCm38) M32K probably benign Het
Txlnb C T 10: 17,838,975 (GRCm38) A385V probably damaging Het
Zc4h2 T C X: 95,643,413 (GRCm38) H98R 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
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
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
Posted On 2016-08-02