Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01764:Nf1'

153627

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 #

IGL01764

Quality Score

Status

Chromosome

Chromosomal Location

79339693-79581612 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79384187 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 25 (T25A)

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 benign
Transcript: ENSMUST00000071325
AA Change: T25A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000071289
Gene: ENSMUSG00000020716
AA Change: T25A

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 benign
Transcript: ENSMUST00000108251
AA Change: T25A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103886
Gene: ENSMUSG00000020716
AA Change: T25A

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

probably benign
Transcript: ENSMUST00000219057
AA Change: T25A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	T	10: 87,074,046 (GRCm38)	M1L	probably benign	Het
BC025920	T	A	10: 81,609,150 (GRCm38)	Y36N	probably damaging	Het
Cdk11b	G	A	4: 155,628,803 (GRCm38)	R112H	possibly damaging	Het
Ctu2	G	A	8: 122,479,422 (GRCm38)		probably benign	Het
Ddx56	A	C	11: 6,265,692 (GRCm38)	V219G	probably null	Het
Dnah14	T	C	1: 181,744,777 (GRCm38)	V2891A	probably benign	Het
Fbn2	G	T	18: 58,045,351 (GRCm38)	N1938K	probably damaging	Het
Fbxw20	A	G	9: 109,223,359 (GRCm38)	M302T	possibly damaging	Het
Fhdc1	G	A	3: 84,444,735 (GRCm38)	A1061V	possibly damaging	Het
Gpat2	T	C	2: 127,427,536 (GRCm38)	I36T	probably benign	Het
Gsta5	A	T	9: 78,304,507 (GRCm38)		probably null	Het
Hmcn2	A	G	2: 31,405,630 (GRCm38)	E2617G	possibly damaging	Het
Hrob	T	C	11: 102,255,596 (GRCm38)	C233R	probably benign	Het
Krba1	C	T	6: 48,415,836 (GRCm38)	R895W	probably benign	Het
Large2	G	T	2: 92,367,186 (GRCm38)		probably benign	Het
Lrp1b	C	T	2: 40,697,442 (GRCm38)	V165M	unknown	Het
Mapk1	T	A	16: 16,983,733 (GRCm38)	M36K	possibly damaging	Het
Nrxn3	G	A	12: 90,204,750 (GRCm38)	V1316I	possibly damaging	Het
Pik3r4	G	A	9: 105,685,122 (GRCm38)		probably benign	Het
Plekhh1	G	T	12: 79,054,905 (GRCm38)	A250S	probably benign	Het
Polr3g	G	A	13: 81,682,119 (GRCm38)	T145M	possibly damaging	Het
Prss32	A	G	17: 23,856,111 (GRCm38)	D145G	probably damaging	Het
Rab11fip3	T	C	17: 26,068,693 (GRCm38)	K162R	probably benign	Het
Spag7	A	G	11: 70,664,107 (GRCm38)		probably benign	Het
Spata2l	T	A	8: 123,234,175 (GRCm38)	Q125L	probably benign	Het
Tlr9	G	T	9: 106,225,805 (GRCm38)	C765F	probably damaging	Het
Trip11	A	T	12: 101,884,631 (GRCm38)	I773N	probably damaging	Het
Vcan	T	G	13: 89,725,388 (GRCm38)	T116P	probably damaging	Het
Vmn2r22	C	T	6: 123,650,420 (GRCm38)		probably null	Het
Yme1l1	T	C	2: 23,162,544 (GRCm38)	I70T	probably benign	Het
Zfp938	T	A	10: 82,227,790 (GRCm38)		probably benign	Het

Other mutations in Nf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2014-02-04