Mutagenetix > Incidental Mutation

Incidental Mutation 'R3120:Nf1'

263182

Institutional Source

Beutler Lab

Gene Symbol

Nf1

Ensembl Gene

ENSMUSG00000020716

Gene Name

neurofibromin 1

Synonyms

Mhdadsk9, Dsk9, neurofibromin, Nf-1

MMRRC Submission

040593-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3120 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79230519-79472438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 79455725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 550 (T550K)

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: T2566K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071289
Gene: ENSMUSG00000020716
AA Change: T2566K

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: T2545K

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

SMART Domains

Protein: ENSMUSP00000103886
Gene: ENSMUSG00000020716
AA Change: T2545K

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: T550K

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

SMART Domains

Protein: ENSMUSP00000120982
Gene: ENSMUSG00000020716
AA Change: T550K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146699

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bsx	A	G	9: 40,788,908 (GRCm39)	K155R	possibly damaging	Het
Ccdc39	T	C	3: 33,891,987 (GRCm39)	K162E	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Dnah1	G	A	14: 30,988,779 (GRCm39)	R3351*	probably null	Het
Eml1	A	G	12: 108,479,312 (GRCm39)	R362G	probably benign	Het
Fam222b	T	C	11: 78,044,742 (GRCm39)	L101P	probably damaging	Het
Fars2	A	G	13: 36,430,400 (GRCm39)	E276G	probably damaging	Het
Gatad1	G	T	5: 3,691,456 (GRCm39)	Y33*	probably null	Het
Gclc	A	C	9: 77,688,552 (GRCm39)	E219A	possibly damaging	Het
Gm4846	A	G	1: 166,319,117 (GRCm39)	V207A	probably benign	Het
H1f5	A	T	13: 21,964,215 (GRCm39)	S170R	probably benign	Het
Hbq1a	T	C	11: 32,250,472 (GRCm39)	L87P	probably damaging	Het
Magea6	A	T	X: 153,707,291 (GRCm39)	I255N	probably benign	Het
Mfsd12	T	G	10: 81,197,049 (GRCm39)	V206G	probably benign	Het
Mis18bp1	T	C	12: 65,203,762 (GRCm39)		probably null	Het
Nlrp4f	T	C	13: 65,342,530 (GRCm39)	T372A	probably benign	Het
Or5p70	T	C	7: 107,994,930 (GRCm39)	I201T	possibly damaging	Het
Pkdcc	T	C	17: 83,527,466 (GRCm39)	Y215H	probably damaging	Het
Plekha5	A	G	6: 140,537,367 (GRCm39)	T253A	probably benign	Het
Polr2f	T	A	15: 79,028,788 (GRCm39)		probably null	Het
Prph2	C	T	17: 47,234,298 (GRCm39)	A289V	possibly damaging	Het
Ptdss2	C	T	7: 140,732,132 (GRCm39)	H140Y	probably damaging	Het
Rlf	T	A	4: 121,006,680 (GRCm39)	I877L	probably benign	Het
Scgb2b2	T	C	7: 31,003,001 (GRCm39)	L32S	possibly damaging	Het
Sfpq	T	A	4: 126,915,926 (GRCm39)	H239Q	unknown	Het
St6gal2	A	T	17: 55,789,111 (GRCm39)	R48S	probably benign	Het
Sybu	T	C	15: 44,536,355 (GRCm39)	D657G	possibly damaging	Het
Syt15	A	G	14: 33,944,950 (GRCm39)	I166V	probably benign	Het
Taar7f	C	A	10: 23,925,478 (GRCm39)	T24K	probably benign	Het
Tbcd	T	C	11: 121,499,474 (GRCm39)	S1093P	probably damaging	Het
Tfap2c	G	A	2: 172,399,015 (GRCm39)	V396M	possibly damaging	Het
Tnxb	C	T	17: 34,911,329 (GRCm39)	T1544I	possibly damaging	Het
Trim28	A	G	7: 12,762,341 (GRCm39)	T322A	probably damaging	Het
Tubgcp3	G	A	8: 12,707,626 (GRCm39)	A121V	possibly damaging	Het
Vmn2r14	A	T	5: 109,372,431 (GRCm39)	W20R	probably null	Het
Zfp551	A	G	7: 12,149,943 (GRCm39)	F489L	possibly damaging	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
R2105:Nf1	UTSW	11	79,360,652 (GRCm39)	missense	possibly damaging	0.50
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
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'- AGAAACTCTGCTCCAGGGATG -3'
(R):5'- GGCATAACTGGCTGATTTCTTTTC -3'

Sequencing Primer
(F):5'- GATGTCTCAGCTTGCGCTCAAAAG -3'
(R):5'- TCCTGCCCACTTGAGCCAG -3'

Posted On

2015-02-05