Incidental Mutation 'IGL02567:Nf1'
ID 298864
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nf1
Ensembl Gene ENSMUSG00000020716
Gene Name neurofibromin 1
Synonyms Mhdadsk9, Dsk9, neurofibromin, Nf-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02567
Quality Score
Status
Chromosome 11
Chromosomal Location 79230519-79472438 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79437969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 2109 (V2109D)
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: V2109D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071289
Gene: ENSMUSG00000020716
AA Change: V2109D

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: V2088D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103886
Gene: ENSMUSG00000020716
AA Change: V2088D

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 damaging
Transcript: ENSMUST00000137997
AA Change: V93D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120982
Gene: ENSMUSG00000020716
AA Change: V93D

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 C A 11: 53,263,578 (GRCm39) S199R possibly damaging Het
Ano1 A G 7: 144,165,362 (GRCm39) L621P probably damaging Het
Calcr C T 6: 3,691,564 (GRCm39) V404M probably damaging Het
Carmil3 A G 14: 55,736,339 (GRCm39) S635G possibly damaging Het
Ccl12 C A 11: 81,993,447 (GRCm39) S28R possibly damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdhr3 T C 12: 33,088,900 (GRCm39) N761D probably benign Het
Col14a1 T C 15: 55,208,357 (GRCm39) probably null Het
Col28a1 T C 6: 8,014,819 (GRCm39) K862R possibly damaging Het
Cyp2c66 C T 19: 39,175,084 (GRCm39) probably benign Het
D5Ertd615e T C 5: 45,320,758 (GRCm39) noncoding transcript Het
Deup1 T C 9: 15,486,579 (GRCm39) E367G probably damaging Het
Dpp8 T G 9: 64,986,058 (GRCm39) Y849* probably null Het
Efhc1 T A 1: 21,043,188 (GRCm39) V369E probably damaging Het
Entrep2 T A 7: 64,436,479 (GRCm39) M101L possibly damaging Het
Epg5 A G 18: 78,076,288 (GRCm39) Y2562C probably damaging Het
Fbln5 A G 12: 101,728,059 (GRCm39) probably null Het
Frem1 A T 4: 82,918,292 (GRCm39) M551K probably damaging Het
Gba2 T C 4: 43,567,281 (GRCm39) S889G probably benign Het
Golph3 C T 15: 12,349,507 (GRCm39) R176* probably null Het
Got2 A T 8: 96,598,829 (GRCm39) F191Y probably benign Het
Gtf2ird2 G T 5: 134,241,890 (GRCm39) probably benign Het
H4c16 G A 6: 136,781,272 (GRCm39) R36W probably damaging Het
Hivep3 A G 4: 119,991,153 (GRCm39) T2218A probably damaging Het
Htr1f C T 16: 64,746,611 (GRCm39) G227D probably benign Het
Ifi202b C T 1: 173,791,370 (GRCm39) S436N possibly damaging Het
Opa1 C A 16: 29,407,104 (GRCm39) D29E probably benign Het
Papln C T 12: 83,825,611 (GRCm39) P631S probably benign Het
Pde4c T A 8: 71,200,570 (GRCm39) M352K probably benign Het
Pigu T C 2: 155,173,112 (GRCm39) T129A possibly damaging Het
Pla2g4c T A 7: 13,079,965 (GRCm39) H424Q probably damaging Het
Ptpn13 T G 5: 103,710,157 (GRCm39) L1564R probably damaging Het
Rbm5 T C 9: 107,621,473 (GRCm39) D642G probably damaging Het
Rnf111 T C 9: 70,366,287 (GRCm39) T384A probably damaging Het
Scn11a T C 9: 119,633,555 (GRCm39) T393A probably damaging Het
Sned1 A T 1: 93,202,069 (GRCm39) K619M probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Syt9 A G 7: 107,035,868 (GRCm39) Y295C probably damaging Het
Taar7f T A 10: 23,926,323 (GRCm39) Y306N probably damaging Het
Tmem107 T G 11: 68,961,845 (GRCm39) L25V possibly damaging Het
Wdr24 T G 17: 26,043,322 (GRCm39) I48S probably damaging Het
Zc3hc1 T C 6: 30,374,848 (GRCm39) D231G probably benign Het
Zfp142 T C 1: 74,617,309 (GRCm39) K341E possibly damaging Het
Zfp142 T A 1: 74,617,306 (GRCm39) S342C possibly damaging Het
Zfp142 T G 1: 74,617,308 (GRCm39) K341T possibly damaging Het
Zfp804b T A 5: 6,819,989 (GRCm39) I989L probably benign Het
Zfyve9 A C 4: 108,531,720 (GRCm39) V1095G probably damaging 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
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
R1350:Nf1 UTSW 11 79,303,513 (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
Posted On 2015-04-16