Mutagenetix > Incidental Mutation

Incidental Mutation 'R2105:Nf1'

230890

Institutional Source

Beutler Lab

Gene Symbol

Nf1

Ensembl Gene

ENSMUSG00000020716

Gene Name

neurofibromin 1

Synonyms

Mhdadsk9, Dsk9, neurofibromin, Nf-1

MMRRC Submission

040109-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2105 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79230519-79472438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79360652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 1443 (R1443S)

Ref Sequence

ENSEMBL: ENSMUSP00000103886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071325] [ENSMUST00000108251]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000071325
AA Change: R1464S

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000071289
Gene: ENSMUSG00000020716
AA Change: R1464S

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: R1443S

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103886
Gene: ENSMUSG00000020716
AA Change: R1443S

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: ENSMUST00000122917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130979

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,650,459 (GRCm39)	P1189L	probably benign	Het
Acbd4	G	A	11: 102,995,265 (GRCm39)	D57N	probably damaging	Het
Acot4	A	T	12: 84,085,516 (GRCm39)	M78L	probably damaging	Het
Ago1	A	T	4: 126,355,581 (GRCm39)	M76K	probably benign	Het
Agrn	G	T	4: 156,261,756 (GRCm39)	Y511*	probably null	Het
Arhgef15	A	T	11: 68,838,507 (GRCm39)		probably null	Het
Atp1a3	A	T	7: 24,689,278 (GRCm39)	M594K	probably damaging	Het
Atp4a	G	A	7: 30,419,793 (GRCm39)		probably null	Het
Bckdk	T	A	7: 127,506,489 (GRCm39)	I272N	probably damaging	Het
Bod1l	A	G	5: 41,989,622 (GRCm39)	V367A	probably benign	Het
C1galt1c1	T	C	X: 37,720,145 (GRCm39)	M284V	possibly damaging	Het
Cenpk	T	A	13: 104,366,105 (GRCm39)	C4*	probably null	Het
Cfap53	T	C	18: 74,416,294 (GRCm39)	V9A	possibly damaging	Het
Chil3	T	C	3: 106,067,794 (GRCm39)	I124V	possibly damaging	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Cyp2c67	T	C	19: 39,614,681 (GRCm39)	Y282C	probably benign	Het
D5Ertd579e	C	T	5: 36,770,793 (GRCm39)	A1201T	probably benign	Het
Dock4	A	G	12: 40,742,988 (GRCm39)	H381R	probably benign	Het
Drc1	C	T	5: 30,513,785 (GRCm39)	S447F	probably benign	Het
Fam83g	G	T	11: 61,594,284 (GRCm39)	R606L	probably benign	Het
Fmnl1	A	C	11: 103,085,518 (GRCm39)	S688R	probably benign	Het
Fryl	C	T	5: 73,279,642 (GRCm39)	V219I	probably benign	Het
Golgb1	T	A	16: 36,735,026 (GRCm39)	N1424K	probably benign	Het
Gpr39	T	C	1: 125,605,621 (GRCm39)	V183A	possibly damaging	Het
H2-T22	A	T	17: 36,351,409 (GRCm39)	Y274N	probably benign	Het
Hif1a	T	A	12: 73,984,519 (GRCm39)	Y313N	probably damaging	Het
Hip1r	T	A	5: 124,138,267 (GRCm39)	M787K	probably damaging	Het
Hipk3	T	C	2: 104,269,737 (GRCm39)	E484G	probably damaging	Het
Hsh2d	T	A	8: 72,954,490 (GRCm39)	F291I	probably benign	Het
Ino80	T	C	2: 119,262,410 (GRCm39)	E692G	probably null	Het
Itgam	T	A	7: 127,680,884 (GRCm39)	V271D	probably damaging	Het
Kansl1	A	C	11: 104,226,385 (GRCm39)	I924S	probably damaging	Het
Kcnq2	A	G	2: 180,723,145 (GRCm39)	C628R	probably benign	Het
Krt78	A	C	15: 101,855,849 (GRCm39)	V654G	possibly damaging	Het
Lrit2	A	G	14: 36,793,913 (GRCm39)	T326A	probably damaging	Het
Ltk	T	C	2: 119,582,569 (GRCm39)	E710G	probably damaging	Het
Lysmd1	T	C	3: 95,042,285 (GRCm39)	L53S	probably damaging	Het
Mc4r	T	C	18: 66,992,669 (GRCm39)	Y148C	probably damaging	Het
Mfn2	G	A	4: 147,973,162 (GRCm39)	Q172*	probably null	Het
Mknk2	A	G	10: 80,504,435 (GRCm39)	L242P	possibly damaging	Het
Mrpl45	A	T	11: 97,216,573 (GRCm39)	H167L	probably benign	Het
Myc	T	C	15: 61,859,951 (GRCm39)	V208A	probably damaging	Het
Myh7b	A	G	2: 155,471,377 (GRCm39)	E1175G	probably benign	Het
Myo18a	A	T	11: 77,741,060 (GRCm39)	M1456L	probably benign	Het
Myocd	G	A	11: 65,109,484 (GRCm39)	Q96*	probably null	Het
Nckap5	T	A	1: 125,954,255 (GRCm39)	I766F	probably damaging	Het
Ndst1	T	C	18: 60,824,325 (GRCm39)	E784G	probably benign	Het
Nhlrc3	A	G	3: 53,361,072 (GRCm39)	W228R	probably damaging	Het
Nup107	G	A	10: 117,609,225 (GRCm39)	T378I	probably damaging	Het
Or14c40	A	T	7: 86,313,591 (GRCm39)	K240N	probably damaging	Het
Or1o3	A	T	17: 37,573,964 (GRCm39)	M197K	probably benign	Het
Or52d13	T	A	7: 103,109,480 (GRCm39)		probably null	Het
Or5m3b	C	T	2: 85,871,674 (GRCm39)	T5I	probably damaging	Het
Or5w11	A	G	2: 87,459,283 (GRCm39)	T159A	probably benign	Het
Or6b13	T	A	7: 139,782,656 (GRCm39)	D9V	probably benign	Het
Otop1	A	G	5: 38,457,801 (GRCm39)	D520G	probably benign	Het
Papln	C	T	12: 83,827,010 (GRCm39)	P712S	probably benign	Het
Pcbd2	T	A	13: 55,880,846 (GRCm39)	I34N	probably damaging	Het
Pkd1l3	T	A	8: 110,374,205 (GRCm39)	C29*	probably null	Het
Pou5f1	G	A	17: 35,820,899 (GRCm39)	V114M	probably benign	Het
Pramel28	A	T	4: 143,692,390 (GRCm39)	Y204N	probably benign	Het
Prpf4b	C	A	13: 35,068,214 (GRCm39)		probably benign	Het
Prr23a1	C	T	9: 98,724,709 (GRCm39)	P24S	probably damaging	Het
Ptch1	T	A	13: 63,693,059 (GRCm39)	M65L	probably benign	Het
Rc3h2	A	T	2: 37,289,636 (GRCm39)	I392K	possibly damaging	Het
Reck	G	T	4: 43,943,195 (GRCm39)	D916Y	probably damaging	Het
Rtf2	A	G	2: 172,287,285 (GRCm39)	D68G	probably damaging	Het
Ryr1	G	T	7: 28,789,575 (GRCm39)	T1513K	probably damaging	Het
Sacs	A	G	14: 61,410,890 (GRCm39)	D55G	possibly damaging	Het
Scn9a	A	G	2: 66,398,527 (GRCm39)	S28P	probably benign	Het
Scrn3	A	G	2: 73,160,196 (GRCm39)	M280V	probably damaging	Het
Snx29	C	T	16: 11,328,898 (GRCm39)	T559I	possibly damaging	Het
Spn	C	T	7: 126,735,413 (GRCm39)	E109K	probably damaging	Het
Sra1	C	T	18: 36,808,121 (GRCm39)	R369H	probably benign	Het
Srsf11	C	T	3: 157,724,982 (GRCm39)	A64T	probably damaging	Het
Stk17b	A	G	1: 53,815,764 (GRCm39)	S12P	probably benign	Het
Sult1d1	C	A	5: 87,707,661 (GRCm39)	G153V	probably damaging	Het
Sycp2	A	T	2: 177,991,931 (GRCm39)		probably null	Het
Tgfb3	T	C	12: 86,116,543 (GRCm39)	E165G	possibly damaging	Het
Tns2	C	A	15: 102,015,941 (GRCm39)	H160N	probably benign	Het
Ubn1	T	A	16: 4,895,088 (GRCm39)	C711*	probably null	Het
Usp13	A	T	3: 32,956,135 (GRCm39)	D469V	probably damaging	Het
Vmn1r231	A	T	17: 21,110,380 (GRCm39)	H178Q	possibly damaging	Het
Vwa1	A	G	4: 155,857,250 (GRCm39)	S183P	probably damaging	Het
Xpo7	A	G	14: 70,928,431 (GRCm39)	I424T	probably benign	Het
Zfp109	A	G	7: 23,936,041 (GRCm39)		probably null	Het

Other mutations in Nf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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	79,456,761 (GRCm39)	missense	possibly damaging	0.64
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	79,469,098 (GRCm39)	missense	probably damaging	1.00
R0196:Nf1	UTSW	11	79,359,595 (GRCm39)	missense	possibly damaging	0.94
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
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

Predicted Primers

PCR Primer
(F):5'- CTCACACTTGCAAACGTGTG -3'
(R):5'- TGCTTTACAGGTTCCAGAGAG -3'

Sequencing Primer
(F):5'- TATGCACATATCACACAATACACATG -3'
(R):5'- CTTTACAGGTTCCAGAGAGTTTTC -3'

Posted On

2014-09-18