Mutagenetix > Incidental Mutation

Incidental Mutation 'R0196:Nf1'

23456

Institutional Source

Beutler Lab

Gene Symbol

Nf1

Ensembl Gene

ENSMUSG00000020716

Gene Name

neurofibromin 1

Synonyms

Nf-1, neurofibromin

MMRRC Submission

038455-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0196 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79339693-79581612 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79578272 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 786 (V786D)

Ref Sequence

ENSEMBL: ENSMUSP00000120982 (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: V2801D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071289
Gene: ENSMUSG00000020716
AA Change: V2801D

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: V2780D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103886
Gene: ENSMUSG00000020716
AA Change: V2780D

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 damaging
Transcript: ENSMUST00000137997
AA Change: V786D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120982
Gene: ENSMUSG00000020716
AA Change: V786D

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

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.8%
20x: 81.8%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,616,247 (GRCm38)		probably benign	Het
Aass	G	A	6: 23,109,520 (GRCm38)	P317L	probably damaging	Het
Abca12	T	A	1: 71,259,813 (GRCm38)	N2313I	possibly damaging	Het
Adamts12	T	C	15: 11,071,508 (GRCm38)	I46T	probably benign	Het
Adipoq	T	G	16: 23,146,643 (GRCm38)		probably null	Het
Amy1	A	T	3: 113,569,421 (GRCm38)	D92E	probably benign	Het
Asb15	G	A	6: 24,564,393 (GRCm38)	R282Q	probably damaging	Het
Bag6	G	C	17: 35,144,263 (GRCm38)	G693A	probably damaging	Het
Birc6	T	C	17: 74,580,287 (GRCm38)	I870T	possibly damaging	Het
Cand2	A	G	6: 115,789,502 (GRCm38)	K356R	probably damaging	Het
Cbfa2t3	T	C	8: 122,633,337 (GRCm38)	Q525R	possibly damaging	Het
Ccdc94	C	A	17: 55,964,653 (GRCm38)	D191E	probably damaging	Het
Cd4	T	C	6: 124,867,806 (GRCm38)	R339G	probably damaging	Het
Cdh8	A	G	8: 99,190,434 (GRCm38)	S350P	probably damaging	Het
Cep295	A	T	9: 15,338,213 (GRCm38)	S469T	probably damaging	Het
Ckap2l	A	T	2: 129,285,422 (GRCm38)	S279T	probably benign	Het
Clnk	T	A	5: 38,769,939 (GRCm38)	N66Y	probably damaging	Het
Col27a1	A	T	4: 63,224,266 (GRCm38)	T64S	probably benign	Het
Crtc1	T	C	8: 70,386,221 (GRCm38)	D599G	probably damaging	Het
Cyp2c23	A	C	19: 44,012,356 (GRCm38)	I363S	probably damaging	Het
Dnah10	A	T	5: 124,834,075 (GRCm38)	I4519F	possibly damaging	Het
Dner	T	A	1: 84,370,832 (GRCm38)	I716F	probably damaging	Het
Dsel	T	G	1: 111,861,603 (GRCm38)	T401P	possibly damaging	Het
Egfr	A	G	11: 16,911,746 (GRCm38)	D1175G	probably benign	Het
Ephb3	A	T	16: 21,218,054 (GRCm38)	N343I	probably damaging	Het
Fbxw10	T	A	11: 62,877,244 (GRCm38)	F974I	probably benign	Het
Gfi1b	T	C	2: 28,613,774 (GRCm38)	Y138C	probably damaging	Het
Gm11168	T	A	9: 3,005,175 (GRCm38)	L6H	probably benign	Het
Grb10	A	C	11: 11,945,583 (GRCm38)	V247G	probably damaging	Het
Gstp2	A	T	19: 4,040,514 (GRCm38)		probably null	Het
Hars2	C	T	18: 36,789,204 (GRCm38)	Q291*	probably null	Het
Hyal4	G	T	6: 24,756,221 (GRCm38)	W146L	probably damaging	Het
Il22ra1	C	T	4: 135,734,245 (GRCm38)	T107I	possibly damaging	Het
Itga8	A	G	2: 12,204,729 (GRCm38)		probably null	Het
Klhl25	T	C	7: 75,865,702 (GRCm38)	S119P	probably damaging	Het
Krt81	C	A	15: 101,463,627 (GRCm38)	R24L	possibly damaging	Het
Lrrc8c	T	C	5: 105,606,770 (GRCm38)	V137A	probably benign	Het
Macrod2	A	T	2: 142,176,625 (GRCm38)	E226V	probably damaging	Het
Mcemp1	A	T	8: 3,668,201 (GRCm38)	Q165L	probably benign	Het
Mcpt9	T	A	14: 56,027,996 (GRCm38)	K82M	probably benign	Het
Mpzl3	A	G	9: 45,062,160 (GRCm38)	T66A	probably damaging	Het
Msh6	G	A	17: 87,980,360 (GRCm38)	V143I	possibly damaging	Het
Mug1	G	A	6: 121,838,725 (GRCm38)		probably null	Het
Ncr1	G	T	7: 4,340,973 (GRCm38)	C153F	probably damaging	Het
Nisch	T	C	14: 31,203,394 (GRCm38)		probably benign	Het
Nwd2	T	A	5: 63,806,351 (GRCm38)	Y1093N	probably benign	Het
Oas3	G	A	5: 120,756,145 (GRCm38)	R39C	probably damaging	Het
Olfr1352	C	T	10: 78,984,189 (GRCm38)	T133I	possibly damaging	Het
Olfr392	A	T	11: 73,814,905 (GRCm38)	M59K	probably damaging	Het
Oxa1l	T	C	14: 54,363,487 (GRCm38)	I139T	probably damaging	Het
P3h3	T	A	6: 124,845,272 (GRCm38)	N583Y	probably damaging	Het
Pcdh18	A	T	3: 49,756,698 (GRCm38)		probably null	Het
Pcnp	C	T	16: 56,024,533 (GRCm38)		probably benign	Het
Pdzd8	G	T	19: 59,301,131 (GRCm38)	D612E	probably benign	Het
Pi4kb	T	C	3: 94,998,950 (GRCm38)	S8P	probably damaging	Het
Pikfyve	T	G	1: 65,256,072 (GRCm38)	V1454G	possibly damaging	Het
Podn	T	C	4: 108,021,498 (GRCm38)	N246D	probably damaging	Het
Prg4	T	C	1: 150,454,492 (GRCm38)		probably benign	Het
R3hdm2	T	C	10: 127,484,521 (GRCm38)	Y523H	probably damaging	Het
Rpf1	T	A	3: 146,508,149 (GRCm38)	E231V	possibly damaging	Het
Slc16a10	C	T	10: 40,056,615 (GRCm38)	E317K	probably benign	Het
Slc34a1	A	T	13: 55,412,265 (GRCm38)	I435F	probably damaging	Het
Snx19	A	G	9: 30,433,387 (GRCm38)	D629G	probably damaging	Het
Tomm70a	T	C	16: 57,146,100 (GRCm38)	I472T	probably benign	Het
Trp53	A	G	11: 69,588,680 (GRCm38)	Y202C	probably damaging	Het
Ttc14	T	A	3: 33,809,254 (GRCm38)		probably benign	Het
Ugt1a1	C	T	1: 88,212,555 (GRCm38)	A185V	possibly damaging	Het
Usp28	A	G	9: 49,028,278 (GRCm38)	D655G	probably damaging	Het
Vmn1r215	C	T	13: 23,076,084 (GRCm38)	T98I	probably damaging	Het
Vmn2r121	G	T	X: 124,132,182 (GRCm38)	T426N	probably benign	Het
Vmn2r99	A	G	17: 19,394,573 (GRCm38)	N852D	probably benign	Het
Xrn2	T	A	2: 147,047,660 (GRCm38)	D654E	probably damaging	Het
Zfp335	C	G	2: 164,896,145 (GRCm38)	A849P	possibly damaging	Het
Zfp954	C	T	7: 7,115,391 (GRCm38)	V385M	probably damaging	Het
Zmynd15	A	G	11: 70,464,226 (GRCm38)	T350A	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	79,468,769 (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

Predicted Primers

PCR Primer
(F):5'- TAGAATCTGCCCTCTGCTGGACAC -3'
(R):5'- GCGACCAGATGGGATCATAAGACAC -3'

Sequencing Primer
(F):5'- CTGGACACTCATGGTACAACTGG -3'
(R):5'- CACGAAGTGCAGCAGTGC -3'

Posted On

2013-04-16