Mutagenetix > Incidental Mutation

Incidental Mutation 'R6756:Nf1'

531065

Institutional Source

Beutler Lab

Gene Symbol

Nf1

Ensembl Gene

ENSMUSG00000020716

Gene Name

neurofibromin 1

Synonyms

Mhdadsk9, Dsk9, neurofibromin, Nf-1

MMRRC Submission

044872-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6756 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79230519-79472438 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 79335413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000071325

SMART Domains

Protein: ENSMUSP00000071289
Gene: ENSMUSG00000020716

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 null
Transcript: ENSMUST00000108251

SMART Domains

Protein: ENSMUSP00000103886
Gene: ENSMUSG00000020716

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

Predicted Effect

probably null
Transcript: ENSMUST00000219057

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,298,512 (GRCm39)		probably null	Het
Adam7	T	C	14: 68,762,728 (GRCm39)	T166A	probably benign	Het
Ahnak	G	A	19: 8,984,925 (GRCm39)	V2070M	possibly damaging	Het
Atp6v1a	T	A	16: 43,909,421 (GRCm39)	T537S	probably benign	Het
Atp8b3	C	T	10: 80,361,895 (GRCm39)	E719K	possibly damaging	Het
Clba1	T	C	12: 112,775,820 (GRCm39)	L192P	probably damaging	Het
Dpy19l1	T	C	9: 24,385,080 (GRCm39)	T250A	probably damaging	Het
Fra10ac1	A	C	19: 38,204,313 (GRCm39)	Y88D	probably damaging	Het
Gm21738	C	T	14: 19,418,824 (GRCm38)	V35I	possibly damaging	Het
H2-M9	G	T	17: 36,953,227 (GRCm39)	H27N	probably damaging	Het
Hivep2	T	C	10: 14,008,303 (GRCm39)	C1634R	probably damaging	Het
Meiob	A	T	17: 25,058,506 (GRCm39)	T470S	possibly damaging	Het
Ms4a7	T	C	19: 11,301,889 (GRCm39)	H35R	possibly damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Npc1l1	T	C	11: 6,165,153 (GRCm39)	Y1053C	probably damaging	Het
Or4p21	T	C	2: 88,277,078 (GRCm39)	D68G	possibly damaging	Het
Or51a25	T	C	7: 102,373,295 (GRCm39)	N134S	probably benign	Het
Pcdh10	T	C	3: 45,334,541 (GRCm39)	V285A	possibly damaging	Het
Phldb2	A	T	16: 45,628,683 (GRCm39)	C550S	probably benign	Het
Phldb3	T	C	7: 24,326,756 (GRCm39)	Y595H	probably damaging	Het
Plekha8	C	T	6: 54,601,125 (GRCm39)	Q288*	probably null	Het
Ppp1r36	G	A	12: 76,474,696 (GRCm39)	A64T	probably benign	Het
Ptprd	T	C	4: 75,873,536 (GRCm39)	T1320A	probably damaging	Het
R3hdm1	GAA	GAAA	1: 128,090,548 (GRCm39)		probably null	Het
Recql4	T	C	15: 76,589,059 (GRCm39)	D943G	probably benign	Het
Slc24a2	A	G	4: 87,094,529 (GRCm39)	I330T	probably benign	Het
Srcin1	T	C	11: 97,425,836 (GRCm39)	D433G	probably damaging	Het
Upb1	A	G	10: 75,264,135 (GRCm39)	T194A	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
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
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'- ACCTAGGGATCAACTTGCTTC -3'
(R):5'- GACTCTGCTGTGATTCAGGAC -3'

Sequencing Primer
(F):5'- CTTCTAAAGAACTCAGGCCTGTGG -3'
(R):5'- TCAGGACAGAATGCTTACCTG -3'

Posted On

2018-08-01