Incidental Mutation 'R1350:Nf1'
ID 159540
Institutional Source Beutler Lab
Gene Symbol Nf1
Ensembl Gene ENSMUSG00000020716
Gene Name neurofibromin 1
Synonyms Mhdadsk9, Dsk9, neurofibromin, Nf-1
MMRRC Submission 039415-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1350 (G1)
Quality Score 207
Status Validated
Chromosome 11
Chromosomal Location 79230519-79472438 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79303513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 397 (C397S)
Ref Sequence ENSEMBL: ENSMUSP00000151975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071325] [ENSMUST00000108251] [ENSMUST00000219057]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000071325
AA Change: C397S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000071289
Gene: ENSMUSG00000020716
AA Change: C397S

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: C397S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103886
Gene: ENSMUSG00000020716
AA Change: C397S

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 noncoding transcript
Transcript: ENSMUST00000131800
Predicted Effect probably damaging
Transcript: ENSMUST00000219057
AA Change: C397S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9609 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.9%
  • 20x: 88.1%
Validation Efficiency 95% (57/60)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago4 A G 4: 126,400,925 (GRCm39) V640A probably benign Het
AI661453 C T 17: 47,778,853 (GRCm39) Q860* probably null Het
Atp10d A G 5: 72,418,469 (GRCm39) probably benign Het
Axdnd1 A G 1: 156,205,950 (GRCm39) probably null Het
Bivm T A 1: 44,165,863 (GRCm39) N104K possibly damaging Het
Capn15 A G 17: 26,183,666 (GRCm39) S338P probably benign Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Ccn6 C T 10: 39,034,302 (GRCm39) C100Y probably damaging Het
Col13a1 G A 10: 61,729,848 (GRCm39) probably benign Het
Crb2 A G 2: 37,682,081 (GRCm39) N821D probably damaging Het
D5Ertd579e T A 5: 36,771,081 (GRCm39) I1105F probably damaging Het
Dnaja2 A T 8: 86,266,717 (GRCm39) F337I probably damaging Het
Dntt C T 19: 41,025,578 (GRCm39) probably benign Het
Dock3 C T 9: 106,791,831 (GRCm39) E1381K possibly damaging Het
Fibp T C 19: 5,511,419 (GRCm39) Y96H probably damaging Het
Garnl3 A G 2: 32,942,226 (GRCm39) V85A probably damaging Het
Gsdme A T 6: 50,223,108 (GRCm39) probably null Het
Gucy2c A T 6: 136,720,912 (GRCm39) probably null Het
Hectd1 A G 12: 51,809,217 (GRCm39) V1748A probably benign Het
Hepacam2 G A 6: 3,467,530 (GRCm39) Q384* probably null Het
Itga10 T A 3: 96,564,793 (GRCm39) M961K probably benign Het
Kcnk1 C T 8: 126,751,967 (GRCm39) T191I probably benign Het
Khdrbs1 G A 4: 129,614,545 (GRCm39) P336L probably benign Het
Klhdc2 T A 12: 69,352,484 (GRCm39) probably null Het
Lipc T C 9: 70,705,649 (GRCm39) H478R probably benign Het
Lrp12 A T 15: 39,741,646 (GRCm39) C356* probably null Het
Nox3 A G 17: 3,700,396 (GRCm39) F439S probably damaging Het
Or12e9 T A 2: 87,202,701 (GRCm39) V275E probably benign Het
Or13a18 T C 7: 140,190,622 (GRCm39) V181A probably damaging Het
Or3a1b T C 11: 74,013,039 (GRCm39) L308P possibly damaging Het
Or4b12 A T 2: 90,096,690 (GRCm39) L28Q probably damaging Het
Or51b17 A G 7: 103,542,937 (GRCm39) W2R probably benign Het
Or7g29 T G 9: 19,286,710 (GRCm39) S156R possibly damaging Het
Or8b37 G A 9: 37,959,111 (GRCm39) V198I probably benign Het
Pcif1 T C 2: 164,728,687 (GRCm39) F288L probably damaging Het
Prxl2b C A 4: 154,982,585 (GRCm39) R107L probably damaging Het
Skint7 G T 4: 111,837,521 (GRCm39) A100S possibly damaging Het
Ssu2 A T 6: 112,351,807 (GRCm39) L306* probably null Het
Tasp1 T C 2: 139,899,341 (GRCm39) E4G probably damaging Het
Tfb1m A T 17: 3,595,955 (GRCm39) D99E probably benign Het
Ube3b A G 5: 114,544,198 (GRCm39) probably null Het
Uox A G 3: 146,330,330 (GRCm39) D162G probably damaging Het
Usp18 A G 6: 121,239,651 (GRCm39) T249A possibly damaging Het
Vmn1r202 T C 13: 22,685,886 (GRCm39) N177S probably benign Het
Vwa2 T A 19: 56,897,558 (GRCm39) M621K probably damaging Het
Wdfy3 C A 5: 102,046,418 (GRCm39) D1797Y probably damaging Het
Ylpm1 A T 12: 85,060,856 (GRCm39) probably benign Het
Zbtb9 G A 17: 27,193,380 (GRCm39) V262I probably benign Het
Other mutations in Nf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00225:Nf1 APN 11 79,286,731 (GRCm39) missense probably damaging 0.99
IGL00801:Nf1 APN 11 79,319,526 (GRCm39) splice site probably benign
IGL00823:Nf1 APN 11 79,456,343 (GRCm39) missense probably damaging 1.00
IGL00945:Nf1 APN 11 79,360,629 (GRCm39) missense probably damaging 0.99
IGL00960:Nf1 APN 11 79,335,947 (GRCm39) missense probably damaging 1.00
IGL01118:Nf1 APN 11 79,437,812 (GRCm39) missense probably damaging 0.99
IGL01604:Nf1 APN 11 79,332,535 (GRCm39) splice site probably benign
IGL01637:Nf1 APN 11 79,437,946 (GRCm39) missense probably damaging 1.00
IGL01659:Nf1 APN 11 79,450,275 (GRCm39) missense probably benign
IGL01764:Nf1 APN 11 79,275,013 (GRCm39) missense probably benign
IGL01772:Nf1 APN 11 79,281,075 (GRCm39) missense probably damaging 1.00
IGL02047:Nf1 APN 11 79,316,361 (GRCm39) missense probably benign 0.04
IGL02052:Nf1 APN 11 79,303,553 (GRCm39) missense probably damaging 1.00
IGL02071:Nf1 APN 11 79,334,947 (GRCm39) missense possibly damaging 0.96
IGL02312:Nf1 APN 11 79,335,474 (GRCm39) missense possibly damaging 0.95
IGL02341:Nf1 APN 11 79,455,752 (GRCm39) missense probably benign 0.33
IGL02390:Nf1 APN 11 79,456,761 (GRCm39) missense possibly damaging 0.64
IGL02390:Nf1 APN 11 79,302,502 (GRCm39) splice site probably benign
IGL02475:Nf1 APN 11 79,426,493 (GRCm39) missense probably damaging 1.00
IGL02567:Nf1 APN 11 79,437,969 (GRCm39) missense probably damaging 1.00
IGL02571:Nf1 APN 11 79,319,453 (GRCm39) missense probably damaging 1.00
IGL02664:Nf1 APN 11 79,335,424 (GRCm39) critical splice acceptor site probably null
IGL02664:Nf1 APN 11 79,335,425 (GRCm39) critical splice acceptor site probably null
IGL02992:Nf1 APN 11 79,325,759 (GRCm39) splice site probably benign
IGL03006:Nf1 APN 11 79,436,257 (GRCm39) missense probably damaging 1.00
IGL03216:Nf1 APN 11 79,455,721 (GRCm39) missense probably benign 0.17
Diesel UTSW 11 79,447,549 (GRCm39) missense probably damaging 0.96
Eyecandy UTSW 11 79,436,291 (GRCm39) missense probably damaging 1.00
Franklin UTSW 11 79,364,146 (GRCm39) splice site probably null
Gasoline UTSW 11 79,447,615 (GRCm39) missense probably benign 0.17
hancock UTSW 11 79,427,676 (GRCm39) missense probably benign
independence UTSW 11 79,345,136 (GRCm39) intron probably benign
jackson UTSW 11 79,338,398 (GRCm39) missense probably damaging 1.00
Jefferson UTSW 11 79,337,690 (GRCm39) missense probably damaging 1.00
Phyletic_dwarf UTSW 11 79,345,015 (GRCm39) missense probably damaging 1.00
responsibility UTSW 11 79,456,801 (GRCm39) missense probably damaging 0.99
weepy UTSW 11 79,437,812 (GRCm39) missense probably damaging 1.00
C9142:Nf1 UTSW 11 79,447,557 (GRCm39) missense probably damaging 0.98
I2289:Nf1 UTSW 11 79,438,602 (GRCm39) missense probably damaging 1.00
R0055:Nf1 UTSW 11 79,362,377 (GRCm39) missense probably damaging 1.00
R0055:Nf1 UTSW 11 79,362,377 (GRCm39) missense probably damaging 1.00
R0081:Nf1 UTSW 11 79,344,805 (GRCm39) splice site probably benign
R0115:Nf1 UTSW 11 79,359,702 (GRCm39) critical splice donor site probably null
R0144:Nf1 UTSW 11 79,437,953 (GRCm39) missense probably damaging 1.00
R0196:Nf1 UTSW 11 79,469,098 (GRCm39) missense probably damaging 1.00
R0196:Nf1 UTSW 11 79,359,595 (GRCm39) missense possibly damaging 0.94
R0217:Nf1 UTSW 11 79,319,400 (GRCm39) splice site probably benign
R0238:Nf1 UTSW 11 79,309,400 (GRCm39) missense possibly damaging 0.89
R0238:Nf1 UTSW 11 79,309,400 (GRCm39) missense possibly damaging 0.89
R0239:Nf1 UTSW 11 79,309,400 (GRCm39) missense possibly damaging 0.89
R0239:Nf1 UTSW 11 79,309,400 (GRCm39) missense possibly damaging 0.89
R0255:Nf1 UTSW 11 79,299,525 (GRCm39) splice site probably null
R0362:Nf1 UTSW 11 79,427,704 (GRCm39) missense probably damaging 1.00
R0364:Nf1 UTSW 11 79,332,783 (GRCm39) nonsense probably null
R0464:Nf1 UTSW 11 79,447,615 (GRCm39) missense probably benign 0.17
R0511:Nf1 UTSW 11 79,329,595 (GRCm39) missense probably benign 0.01
R0549:Nf1 UTSW 11 79,359,597 (GRCm39) missense probably damaging 0.99
R0585:Nf1 UTSW 11 79,459,527 (GRCm39) missense probably damaging 0.99
R0636:Nf1 UTSW 11 79,426,529 (GRCm39) missense probably damaging 0.99
R0924:Nf1 UTSW 11 79,344,692 (GRCm39) missense probably damaging 0.98
R0942:Nf1 UTSW 11 79,329,537 (GRCm39) missense probably benign 0.00
R1022:Nf1 UTSW 11 79,437,859 (GRCm39) missense probably damaging 1.00
R1024:Nf1 UTSW 11 79,437,859 (GRCm39) missense probably damaging 1.00
R1365:Nf1 UTSW 11 79,438,711 (GRCm39) splice site probably null
R1395:Nf1 UTSW 11 79,426,809 (GRCm39) missense possibly damaging 0.49
R1467:Nf1 UTSW 11 79,319,452 (GRCm39) missense possibly damaging 0.88
R1467:Nf1 UTSW 11 79,319,452 (GRCm39) missense possibly damaging 0.88
R1477:Nf1 UTSW 11 79,286,685 (GRCm39) nonsense probably null
R1508:Nf1 UTSW 11 79,331,735 (GRCm39) missense probably damaging 1.00
R1512:Nf1 UTSW 11 79,281,195 (GRCm39) missense probably damaging 1.00
R1605:Nf1 UTSW 11 79,331,749 (GRCm39) missense probably benign 0.01
R1680:Nf1 UTSW 11 79,441,824 (GRCm39) nonsense probably null
R1704:Nf1 UTSW 11 79,354,127 (GRCm39) splice site probably null
R1707:Nf1 UTSW 11 79,426,430 (GRCm39) missense probably damaging 1.00
R1741:Nf1 UTSW 11 79,334,757 (GRCm39) missense probably benign
R1761:Nf1 UTSW 11 79,275,091 (GRCm39) missense probably damaging 1.00
R1800:Nf1 UTSW 11 79,444,794 (GRCm39) missense possibly damaging 0.94
R1873:Nf1 UTSW 11 79,437,987 (GRCm39) missense probably damaging 1.00
R1966:Nf1 UTSW 11 79,302,390 (GRCm39) missense possibly damaging 0.72
R1967:Nf1 UTSW 11 79,303,571 (GRCm39) missense probably damaging 0.96
R1970:Nf1 UTSW 11 79,444,787 (GRCm39) missense probably benign 0.08
R2059:Nf1 UTSW 11 79,447,549 (GRCm39) missense probably damaging 0.96
R2105:Nf1 UTSW 11 79,360,652 (GRCm39) missense possibly damaging 0.50
R2151:Nf1 UTSW 11 79,338,396 (GRCm39) missense possibly damaging 0.94
R2211:Nf1 UTSW 11 79,334,890 (GRCm39) missense probably benign 0.39
R2497:Nf1 UTSW 11 79,334,710 (GRCm39) missense probably damaging 1.00
R2899:Nf1 UTSW 11 79,303,584 (GRCm39) missense possibly damaging 0.93
R3086:Nf1 UTSW 11 79,437,812 (GRCm39) missense probably damaging 1.00
R3120:Nf1 UTSW 11 79,455,725 (GRCm39) missense probably damaging 0.99
R3744:Nf1 UTSW 11 79,439,573 (GRCm39) missense probably benign 0.23
R3801:Nf1 UTSW 11 79,450,347 (GRCm39) missense probably null 0.98
R3804:Nf1 UTSW 11 79,450,347 (GRCm39) missense probably null 0.98
R4212:Nf1 UTSW 11 79,360,624 (GRCm39) missense probably damaging 1.00
R4298:Nf1 UTSW 11 79,275,070 (GRCm39) missense probably damaging 1.00
R4578:Nf1 UTSW 11 79,336,585 (GRCm39) missense probably damaging 1.00
R4579:Nf1 UTSW 11 79,359,583 (GRCm39) missense probably damaging 1.00
R4587:Nf1 UTSW 11 79,426,863 (GRCm39) critical splice donor site probably null
R4793:Nf1 UTSW 11 79,338,398 (GRCm39) missense probably damaging 1.00
R4834:Nf1 UTSW 11 79,437,123 (GRCm39) missense probably damaging 1.00
R4863:Nf1 UTSW 11 79,300,235 (GRCm39) missense probably damaging 1.00
R4967:Nf1 UTSW 11 79,456,379 (GRCm39) critical splice donor site probably null
R4971:Nf1 UTSW 11 79,335,469 (GRCm39) missense probably damaging 1.00
R5034:Nf1 UTSW 11 79,334,976 (GRCm39) missense probably damaging 0.98
R5036:Nf1 UTSW 11 79,337,690 (GRCm39) missense probably damaging 1.00
R5207:Nf1 UTSW 11 79,345,015 (GRCm39) missense probably damaging 1.00
R5348:Nf1 UTSW 11 79,455,725 (GRCm39) missense probably damaging 1.00
R5356:Nf1 UTSW 11 79,364,282 (GRCm39) missense possibly damaging 0.94
R5444:Nf1 UTSW 11 79,334,785 (GRCm39) missense possibly damaging 0.94
R5533:Nf1 UTSW 11 79,336,615 (GRCm39) missense probably damaging 0.99
R5918:Nf1 UTSW 11 79,460,048 (GRCm39) intron probably benign
R5978:Nf1 UTSW 11 79,431,245 (GRCm39) missense probably damaging 1.00
R6140:Nf1 UTSW 11 79,364,146 (GRCm39) splice site probably null
R6195:Nf1 UTSW 11 79,456,801 (GRCm39) missense probably damaging 0.99
R6216:Nf1 UTSW 11 79,302,433 (GRCm39) missense possibly damaging 0.93
R6233:Nf1 UTSW 11 79,456,801 (GRCm39) missense probably damaging 0.99
R6257:Nf1 UTSW 11 79,440,317 (GRCm39) missense probably damaging 1.00
R6258:Nf1 UTSW 11 79,456,581 (GRCm39) splice site probably null
R6756:Nf1 UTSW 11 79,335,413 (GRCm39) splice site probably null
R6878:Nf1 UTSW 11 79,325,708 (GRCm39) missense probably damaging 1.00
R6959:Nf1 UTSW 11 79,440,294 (GRCm39) missense probably damaging 0.98
R7007:Nf1 UTSW 11 79,337,849 (GRCm39) splice site probably null
R7066:Nf1 UTSW 11 79,447,546 (GRCm39) missense probably damaging 1.00
R7099:Nf1 UTSW 11 79,461,156 (GRCm39) missense probably benign 0.08
R7213:Nf1 UTSW 11 79,360,645 (GRCm39) missense probably benign 0.23
R7326:Nf1 UTSW 11 79,455,769 (GRCm39) missense probably benign
R7348:Nf1 UTSW 11 79,427,676 (GRCm39) missense probably benign
R7380:Nf1 UTSW 11 79,437,102 (GRCm39) missense probably damaging 1.00
R7407:Nf1 UTSW 11 79,338,969 (GRCm39) missense probably damaging 1.00
R7412:Nf1 UTSW 11 79,364,240 (GRCm39) missense probably damaging 1.00
R7545:Nf1 UTSW 11 79,300,350 (GRCm39) missense probably benign
R7567:Nf1 UTSW 11 79,438,052 (GRCm39) missense probably damaging 0.99
R7574:Nf1 UTSW 11 79,299,595 (GRCm39) missense probably null 0.99
R7616:Nf1 UTSW 11 79,275,092 (GRCm39) missense probably damaging 0.97
R7713:Nf1 UTSW 11 79,316,432 (GRCm39) missense probably benign
R7737:Nf1 UTSW 11 79,436,314 (GRCm39) missense probably benign 0.33
R7869:Nf1 UTSW 11 79,309,414 (GRCm39) missense probably damaging 1.00
R7905:Nf1 UTSW 11 79,437,938 (GRCm39) missense possibly damaging 0.80
R8232:Nf1 UTSW 11 79,469,157 (GRCm39) missense probably damaging 0.96
R8244:Nf1 UTSW 11 79,331,750 (GRCm39) missense probably benign
R8397:Nf1 UTSW 11 79,438,518 (GRCm39) missense probably damaging 1.00
R8436:Nf1 UTSW 11 79,349,709 (GRCm39) missense probably damaging 0.99
R8492:Nf1 UTSW 11 79,299,248 (GRCm39) missense probably benign 0.06
R8719:Nf1 UTSW 11 79,281,119 (GRCm39) missense possibly damaging 0.86
R8735:Nf1 UTSW 11 79,345,136 (GRCm39) intron probably benign
R8795:Nf1 UTSW 11 79,316,442 (GRCm39) missense probably damaging 1.00
R8797:Nf1 UTSW 11 79,366,711 (GRCm39) critical splice donor site probably benign
R8809:Nf1 UTSW 11 79,437,964 (GRCm39) missense probably damaging 0.99
R8812:Nf1 UTSW 11 79,437,180 (GRCm39) missense probably damaging 0.96
R8815:Nf1 UTSW 11 79,332,491 (GRCm39) missense probably damaging 1.00
R8828:Nf1 UTSW 11 79,286,679 (GRCm39) critical splice acceptor site probably null
R8894:Nf1 UTSW 11 79,336,619 (GRCm39) missense probably damaging 1.00
R9051:Nf1 UTSW 11 79,364,168 (GRCm39) missense probably damaging 1.00
R9103:Nf1 UTSW 11 79,450,332 (GRCm39) missense probably damaging 0.99
R9142:Nf1 UTSW 11 79,366,688 (GRCm39) missense probably damaging 1.00
R9142:Nf1 UTSW 11 79,362,315 (GRCm39) missense probably damaging 1.00
R9170:Nf1 UTSW 11 79,436,291 (GRCm39) missense probably damaging 1.00
R9201:Nf1 UTSW 11 79,461,156 (GRCm39) missense probably benign 0.08
R9267:Nf1 UTSW 11 79,331,716 (GRCm39) missense possibly damaging 0.72
R9309:Nf1 UTSW 11 79,359,595 (GRCm39) missense possibly damaging 0.94
R9340:Nf1 UTSW 11 79,447,629 (GRCm39) missense possibly damaging 0.90
R9398:Nf1 UTSW 11 79,438,018 (GRCm39) missense probably damaging 0.99
R9471:Nf1 UTSW 11 79,436,195 (GRCm39) missense probably damaging 0.99
R9630:Nf1 UTSW 11 79,302,470 (GRCm39) missense probably damaging 1.00
R9664:Nf1 UTSW 11 79,334,733 (GRCm39) missense probably damaging 1.00
X0052:Nf1 UTSW 11 79,450,242 (GRCm39) missense probably damaging 0.99
Z1177:Nf1 UTSW 11 79,455,751 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCTTTCGGATAAGCCCTCACAAC -3'
(R):5'- GGGAAGCTCTGCTTTACAGAAAGGTC -3'

Sequencing Primer
(F):5'- tatgggggtgacggagg -3'
(R):5'- GCTTTACAGAAAGGTCTAAGTTCAG -3'
Posted On 2014-03-14