Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00225:Nf1'

2215

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nf1

Ensembl Gene

ENSMUSG00000020716

Gene Name

neurofibromin 1

Synonyms

Nf-1, neurofibromin

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00225

Quality Score

Status

Chromosome

Chromosomal Location

79339693-79581612 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79395905 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 177 (I177K)

Ref Sequence

ENSEMBL: ENSMUSP00000103886 (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: I177K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071289
Gene: ENSMUSG00000020716
AA Change: I177K

Domain	Start	End	E-Value	Type
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: I177K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103886
Gene: ENSMUSG00000020716
AA Change: I177K

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000219057
AA Change: I177K

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Flii	T	C	11: 60,723,415 (GRCm38)	N93D	probably benign	Het
Gm8356	T	C	14: 6,537,141 (GRCm38)	K24E	probably damaging	Het
Hars	G	A	18: 36,768,172 (GRCm38)	T409M	probably damaging	Het
Ivns1abp	A	G	1: 151,351,112 (GRCm38)		probably null	Het
Kcnq4	G	A	4: 120,698,016 (GRCm38)	Q657*	probably null	Het
Kdm4c	T	G	4: 74,345,567 (GRCm38)	V696G	probably benign	Het
Klrb1f	T	A	6: 129,053,175 (GRCm38)		probably benign	Het
Lrp4	G	A	2: 91,495,026 (GRCm38)	V1399I	probably benign	Het
Mki67	A	G	7: 135,690,120 (GRCm38)	V3168A	probably benign	Het
Nnt	A	T	13: 119,369,997 (GRCm38)	N371K	probably damaging	Het
Olfr472	C	T	7: 107,903,104 (GRCm38)	P129L	probably damaging	Het
Olfr60	A	G	7: 140,345,210 (GRCm38)	Y260H	probably damaging	Het
Oraov1	G	A	7: 144,917,668 (GRCm38)	G86D	possibly damaging	Het
Prkdc	G	T	16: 15,809,644 (GRCm38)	V3389L	possibly damaging	Het
Prr16	T	A	18: 51,303,120 (GRCm38)	Y224N	possibly damaging	Het
Ptgs1	G	A	2: 36,237,219 (GRCm38)	C39Y	probably damaging	Het
Sla	T	C	15: 66,782,630 (GRCm38)	D269G	possibly damaging	Het
Stk38l	T	A	6: 146,758,473 (GRCm38)	M1K	probably null	Het
Trim24	T	A	6: 37,903,648 (GRCm38)	N160K	possibly damaging	Het
Zfp451	A	G	1: 33,786,540 (GRCm38)		probably benign	Het

Other mutations in Nf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2011-12-09