Mutagenetix > Incidental Mutation

Incidental Mutation 'R7737:Nf1'

596332

Institutional Source

Beutler Lab

Gene Symbol

Nf1

Ensembl Gene

ENSMUSG00000020716

Gene Name

neurofibromin 1

Synonyms

Nf-1, neurofibromin

MMRRC Submission

045793-MU

Accession Numbers

Genbank: NM_010897; MGI: 97306

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7737 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79339693-79581612 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79545488 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1985 (I1985V)

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 benign
Transcript: ENSMUST00000071325
AA Change: I1985V

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000071289
Gene: ENSMUSG00000020716
AA Change: I1985V

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

possibly damaging
Transcript: ENSMUST00000108251
AA Change: I1964V

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103886
Gene: ENSMUSG00000020716
AA Change: I1964V

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

probably benign
Transcript: ENSMUST00000137997

SMART Domains

Protein: ENSMUSP00000120982
Gene: ENSMUSG00000020716

Domain	Start	End	E-Value	Type
low complexity region	604	614	N/A	INTRINSIC
low complexity region	735	748	N/A	INTRINSIC

Meta Mutation Damage Score

0.1098

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410141K09Rik	A	G	13: 66,433,677 (GRCm38)		probably null	Het
9530053A07Rik	T	A	7: 28,157,073 (GRCm38)	V2095E	probably damaging	Het
Adamts18	A	T	8: 113,736,934 (GRCm38)		probably null	Het
Akap3	T	A	6: 126,874,102 (GRCm38)	M861K	probably damaging	Het
Ankrd42	T	C	7: 92,605,262 (GRCm38)	T380A	possibly damaging	Het
Arhgef5	A	G	6: 43,273,794 (GRCm38)	E493G	possibly damaging	Het
Armc4	A	G	18: 7,217,890 (GRCm38)	L608P	probably damaging	Het
Arvcf	G	A	16: 18,397,101 (GRCm38)	R119Q	probably damaging	Het
Asmt	T	C	X: 170,676,440 (GRCm38)	F228S	probably damaging	Het
Atp2c2	T	A	8: 119,742,395 (GRCm38)	V349E	probably damaging	Het
BC034090	A	G	1: 155,241,673 (GRCm38)	V233A	possibly damaging	Het
Brinp3	G	T	1: 146,682,594 (GRCm38)	K85N	probably damaging	Het
Ccr6	G	A	17: 8,245,094 (GRCm38)		probably benign	Het
D7Ertd443e	A	G	7: 134,270,201 (GRCm38)	S644P	probably damaging	Het
Ddb1	C	T	19: 10,625,974 (GRCm38)	A882V	possibly damaging	Het
Epha4	C	T	1: 77,381,012 (GRCm38)	G783D	probably damaging	Het
Ephb1	T	A	9: 101,984,103 (GRCm38)	I621F	probably damaging	Het
Fbxw18	G	T	9: 109,701,263 (GRCm38)	Y93*	probably null	Het
Gak	A	C	5: 108,617,008 (GRCm38)	L84R	probably benign	Het
Gm21671	AACT	A	5: 25,950,851 (GRCm38)		probably benign	Het
Gm5458	A	T	14: 19,599,737 (GRCm38)		probably null	Het
Gpatch3	C	G	4: 133,575,096 (GRCm38)	Q113E	probably benign	Het
Gpld1	C	A	13: 24,975,726 (GRCm38)	L426M	probably damaging	Het
Ighmbp2	G	A	19: 3,274,467 (GRCm38)	P234S	unknown	Het
Itga6	G	A	2: 71,822,443 (GRCm38)	V217I	probably benign	Het
Kdm7a	A	T	6: 39,144,404 (GRCm38)	N872K	probably benign	Het
Klhl14	G	T	18: 21,558,134 (GRCm38)	Y446*	probably null	Het
Larp4b	T	A	13: 9,170,643 (GRCm38)		probably null	Het
Lct	A	T	1: 128,298,693 (GRCm38)	W1320R	probably benign	Het
Lrp2	T	C	2: 69,496,438 (GRCm38)	D1763G	possibly damaging	Het
Lrrk2	A	T	15: 91,815,446 (GRCm38)	N2499Y	probably damaging	Het
Lsg1	T	C	16: 30,581,185 (GRCm38)		probably null	Het
Mettl15	T	C	2: 109,137,378 (GRCm38)	K188E	probably damaging	Het
Mfsd4b1	A	G	10: 40,003,278 (GRCm38)	S208P	probably damaging	Het
Mlxipl	T	C	5: 135,135,381 (GRCm38)	S793P	possibly damaging	Het
Ms4a14	G	A	19: 11,302,786 (GRCm38)	Q803*	probably null	Het
Mtor	A	C	4: 148,538,738 (GRCm38)	E2015A	possibly damaging	Het
Myo15b	A	T	11: 115,887,923 (GRCm38)	Y2581F	unknown	Het
Myo7b	A	T	18: 32,014,204 (GRCm38)	Y95*	probably null	Het
Noxred1	G	A	12: 87,221,362 (GRCm38)	Q332*	probably null	Het
Nudt21	A	T	8: 94,022,833 (GRCm38)	Y202N	probably damaging	Het
Olfr345	A	T	2: 36,640,620 (GRCm38)	I194F	probably benign	Het
Pik3c2a	A	T	7: 116,356,253 (GRCm38)	S1176T	probably damaging	Het
Pramef17	A	C	4: 143,991,956 (GRCm38)	S306A	possibly damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,457,541 (GRCm38)		probably benign	Het
Rbmxl1	A	G	8: 78,505,623 (GRCm38)	S364P	unknown	Het
Rnf24	T	A	2: 131,303,496 (GRCm38)	K131N	probably benign	Het
Scai	T	A	2: 39,123,022 (GRCm38)	Q132L	probably damaging	Het
Sh3tc1	T	C	5: 35,723,953 (GRCm38)	R49G	probably benign	Het
Slc12a7	A	G	13: 73,788,677 (GRCm38)	E152G	probably benign	Het
Slc22a27	A	T	19: 7,896,762 (GRCm38)	M316K	probably damaging	Het
Spag1	G	T	15: 36,210,710 (GRCm38)	A427S	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm38)		probably benign	Het
Stk16	G	T	1: 75,211,351 (GRCm38)	C8F	probably damaging	Het
Syne2	T	C	12: 75,942,848 (GRCm38)	C1834R	probably damaging	Het
Tie1	C	T	4: 118,478,857 (GRCm38)		probably null	Het
Timp2	A	G	11: 118,303,895 (GRCm38)	I156T	probably damaging	Het
Tmem163	A	G	1: 127,491,610 (GRCm38)	M286T	possibly damaging	Het
Tmx4	T	A	2: 134,639,668 (GRCm38)	M112L	probably benign	Het
Trank1	G	T	9: 111,366,012 (GRCm38)	E1035*	probably null	Het
Trim5	C	T	7: 104,279,564 (GRCm38)	V57M	probably damaging	Het
Ubr3	A	G	2: 69,991,566 (GRCm38)	S1391G	probably benign	Het
Vmn1r72	A	T	7: 11,669,707 (GRCm38)	S271R	probably damaging	Het
Xpo5	G	A	17: 46,236,090 (GRCm38)		probably null	Het
Zfp592	A	T	7: 81,025,193 (GRCm38)	H635L	probably damaging	Het
Zfp791	A	T	8: 85,112,215 (GRCm38)	N62K	probably benign	Het
Zmynd11	G	A	13: 9,695,139 (GRCm38)	T248M	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTTCTACTATCTGTGCTAATGGAG -3'
(R):5'- ACAGGTGCCTATAGCTAAACTC -3'

Sequencing Primer
(F):5'- GCTAATGGAGTATTTTCTTCACAGG -3'
(R):5'- GAGATGCATTAGCTATTTACAGGGC -3'

Posted On

2019-11-26