Mutagenetix > Incidental Mutation

Incidental Mutation 'R5036:Nf1'

389543

Institutional Source

Beutler Lab

Gene Symbol

Nf1

Ensembl Gene

ENSMUSG00000020716

Gene Name

neurofibromin 1

Synonyms

Mhdadsk9, Dsk9, neurofibromin, Nf-1

MMRRC Submission

042627-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5036 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79230519-79472438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 79337690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1098 (Q1098K)

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 damaging
Transcript: ENSMUST00000071325
AA Change: Q1088K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071289
Gene: ENSMUSG00000020716
AA Change: Q1088K

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: Q1088K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103886
Gene: ENSMUSG00000020716
AA Change: Q1088K

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 damaging
Transcript: ENSMUST00000219057
AA Change: Q1098K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.2951

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.1%

Validation Efficiency

100% (44/44)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	G	A	7: 41,275,578 (GRCm39)	G427D	possibly damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
C4b	T	A	17: 34,959,419 (GRCm39)		probably null	Het
Cabyr	A	T	18: 12,884,303 (GRCm39)	E263D	probably damaging	Het
Car1	A	T	3: 14,841,299 (GRCm39)	D45E	possibly damaging	Het
Col25a1	T	C	3: 130,376,978 (GRCm39)		probably null	Het
Dnah6	G	T	6: 73,021,674 (GRCm39)	S3549R	probably benign	Het
Dync1h1	A	T	12: 110,596,969 (GRCm39)	I1639F	probably damaging	Het
Fhad1	A	T	4: 141,648,052 (GRCm39)	D271E	probably benign	Het
Gle1	T	C	2: 29,826,223 (GRCm39)	S101P	probably benign	Het
Gm4781	C	A	10: 100,232,851 (GRCm39)		noncoding transcript	Het
Gpatch3	A	G	4: 133,305,461 (GRCm39)	Y232C	probably damaging	Het
Gtf2ird2	A	G	5: 134,246,349 (GRCm39)	N869S	probably damaging	Het
Ifi204	G	A	1: 173,580,311 (GRCm39)	P400S	possibly damaging	Het
Ighv2-2	T	C	12: 113,552,092 (GRCm39)	T49A	possibly damaging	Het
Itsn1	T	A	16: 91,579,123 (GRCm39)		probably benign	Het
Mib2	A	T	4: 155,740,745 (GRCm39)	N626K	probably damaging	Het
Odc1	C	A	12: 17,598,020 (GRCm39)	Q116K	probably damaging	Het
Otof	C	T	5: 30,541,783 (GRCm39)	E761K	possibly damaging	Het
Palld	A	T	8: 62,003,196 (GRCm39)	V301D	probably damaging	Het
Pask	A	T	1: 93,249,801 (GRCm39)	L533*	probably null	Het
Plekhh2	T	C	17: 84,879,189 (GRCm39)	S638P	probably damaging	Het
Scaf8	T	A	17: 3,214,537 (GRCm39)		probably benign	Het
Sdccag8	G	T	1: 176,839,541 (GRCm39)	R695L	probably damaging	Het
Serpina1c	A	G	12: 103,865,085 (GRCm39)	I187T	probably damaging	Het
Slitrk5	G	T	14: 111,918,316 (GRCm39)	G647W	possibly damaging	Het
Sycp1	T	A	3: 102,727,916 (GRCm39)	K899M	probably damaging	Het
Taok1	G	A	11: 77,440,157 (GRCm39)	R617C	probably benign	Het
Tbc1d32	A	C	10: 56,071,500 (GRCm39)	Y341*	probably null	Het
Tenm4	A	G	7: 96,343,997 (GRCm39)	N267D	probably damaging	Het
Tenm4	T	C	7: 96,501,768 (GRCm39)	V1287A	probably damaging	Het
Tsga10	A	T	1: 37,823,049 (GRCm39)	V488E	possibly damaging	Het
Ttc39c	G	T	18: 12,820,138 (GRCm39)		probably null	Het
Uck1	A	T	2: 32,148,478 (GRCm39)		probably benign	Het
Vmn2r98	A	G	17: 19,286,419 (GRCm39)	I306V	probably benign	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
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'- AGTTTCCCCACCAGTTTTAGG -3'
(R):5'- CAGTCAATGGCCAAAATTAGAAGC -3'

Sequencing Primer
(F):5'- CCACCAGTTTTAGGTCTTTGTG -3'
(R):5'- TGGCCAAAATTAGAAGCAATTAGGTC -3'

Posted On

2016-06-06