Incidental Mutation 'IGL02390:Nf1'
ID 294214
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 # IGL02390
Quality Score
Status
Chromosome 11
Chromosomal Location 79230519-79472438 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79456761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 616 (Y616H)
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: Y2631H

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000071289
Gene: ENSMUSG00000020716
AA Change: Y2631H

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 possibly damaging
Transcript: ENSMUST00000108251
AA Change: Y2610H

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103886
Gene: ENSMUSG00000020716
AA Change: Y2610H

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: Y616H

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000120982
Gene: ENSMUSG00000020716
AA Change: Y616H

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,187,377 (GRCm39) K894R probably benign Het
Ampd1 C T 3: 102,986,357 (GRCm39) A12V probably benign Het
Ano4 T A 10: 88,860,843 (GRCm39) D345V possibly damaging Het
Arl6 A G 16: 59,441,580 (GRCm39) probably null Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Atrn C T 2: 130,862,897 (GRCm39) P1326S possibly damaging Het
Btbd9 A G 17: 30,743,788 (GRCm39) V238A probably benign Het
Cdh16 T C 8: 105,348,606 (GRCm39) T141A probably damaging Het
Cetn4 T C 3: 37,363,305 (GRCm39) D102G probably damaging Het
Col5a3 T A 9: 20,688,292 (GRCm39) N1256I unknown Het
Cyfip2 A G 11: 46,112,225 (GRCm39) F993L possibly damaging Het
Dcaf6 T A 1: 165,250,490 (GRCm39) I125F possibly damaging Het
Dclk2 A C 3: 86,731,990 (GRCm39) S336A probably damaging Het
Dnah8 G A 17: 31,049,819 (GRCm39) V4327I probably benign Het
Ebna1bp2 T C 4: 118,478,694 (GRCm39) V59A possibly damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
F2 A T 2: 91,463,332 (GRCm39) V184D possibly damaging Het
Fbxo38 C T 18: 62,666,660 (GRCm39) R171H probably damaging Het
Fhod3 A C 18: 25,199,332 (GRCm39) S668R probably benign Het
Fkbp10 T A 11: 100,306,843 (GRCm39) F78L probably damaging Het
Garre1 T C 7: 33,947,643 (GRCm39) D455G probably damaging Het
Hyi C T 4: 118,219,810 (GRCm39) R254C probably benign Het
Igfl3 A T 7: 17,915,659 (GRCm39) probably benign Het
Lgals9 T A 11: 78,854,361 (GRCm39) I308F probably damaging Het
Lrrc8a C A 2: 30,146,713 (GRCm39) P509Q probably damaging Het
Mapkap1 T A 2: 34,322,101 (GRCm39) N6K probably damaging Het
Mdh1b T A 1: 63,760,716 (GRCm39) H115L probably benign Het
Med17 G A 9: 15,188,963 (GRCm39) R101* probably null Het
Mrpl15 T C 1: 4,855,837 (GRCm39) S22G probably benign Het
Olig1 C A 16: 91,067,041 (GRCm39) Q93K probably damaging Het
Or13d1 T A 4: 52,971,263 (GRCm39) I214N probably damaging Het
Or1o1 A T 17: 37,716,986 (GRCm39) L182F probably benign Het
Or4f59 A T 2: 111,873,056 (GRCm39) V107E possibly damaging Het
Otoa C A 7: 120,730,590 (GRCm39) L597M possibly damaging Het
Parp16 C T 9: 65,141,051 (GRCm39) P207L possibly damaging Het
Pbrm1 T A 14: 30,754,467 (GRCm39) D162E probably benign Het
Pramel21 T A 4: 143,341,895 (GRCm39) M108K probably benign Het
Prdm10 A G 9: 31,264,685 (GRCm39) I658V possibly damaging Het
Psg21 A T 7: 18,386,556 (GRCm39) H143Q probably benign Het
Rfx4 C T 10: 84,676,014 (GRCm39) R28W probably damaging Het
Sart1 T G 19: 5,430,489 (GRCm39) M753L possibly damaging Het
Smcr8 T A 11: 60,670,548 (GRCm39) D565E probably benign Het
Smyd4 T A 11: 75,278,332 (GRCm39) probably null Het
Sned1 T C 1: 93,189,386 (GRCm39) V274A probably benign Het
Tbc1d13 T C 2: 30,027,399 (GRCm39) probably benign Het
Tox A T 4: 6,697,534 (GRCm39) I423N possibly damaging Het
Tsc2 A T 17: 24,819,427 (GRCm39) V1232D probably damaging Het
Uckl1 C T 2: 181,216,212 (GRCm39) V178I possibly damaging Het
Usp13 T A 3: 32,985,865 (GRCm39) Y175* probably null Het
Vwde A G 6: 13,190,684 (GRCm39) V469A 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 79,302,502 (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 79,359,595 (GRCm39) missense possibly damaging 0.94
R0196:Nf1 UTSW 11 79,469,098 (GRCm39) missense probably damaging 1.00
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