Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03006:Nf1'

407557

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nf1

Ensembl Gene

ENSMUSG00000020716

Gene Name

neurofibromin 1

Synonyms

Nf-1, neurofibromin

Accession Numbers

Genbank: NM_010897; MGI: 97306

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03006

Quality Score

Status

Chromosome

Chromosomal Location

79339693-79581612 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79545431 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 1966 (D1966N)

Ref Sequence

ENSEMBL: ENSMUSP00000071289 (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: D1966N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071289
Gene: ENSMUSG00000020716
AA Change: D1966N

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: D1945N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103886
Gene: ENSMUSG00000020716
AA Change: D1945N

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 benign
Transcript: ENSMUST00000137997

SMART Domains

Protein: ENSMUSP00000120982
Gene: ENSMUSG00000020716

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

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	A	11: 109,827,845 (GRCm38)	S21C	probably damaging	Het
1700037H04Rik	A	C	2: 131,151,714 (GRCm38)	D22E	probably damaging	Het
2210408I21Rik	T	C	13: 77,323,772 (GRCm38)		probably null	Het
Abcc3	T	C	11: 94,368,595 (GRCm38)	D340G	probably benign	Het
Adamts17	G	T	7: 67,078,347 (GRCm38)	R879L	possibly damaging	Het
Cacna1f	C	A	X: 7,626,903 (GRCm38)	T1275K	probably damaging	Het
Csmd2	T	A	4: 128,480,765 (GRCm38)		probably benign	Het
Dll1	C	T	17: 15,373,592 (GRCm38)	R171Q	probably benign	Het
Dnm1	T	A	2: 32,353,121 (GRCm38)	D30V	possibly damaging	Het
Fam184a	G	A	10: 53,698,697 (GRCm38)	S216L	probably damaging	Het
Fbxo33	G	A	12: 59,204,319 (GRCm38)	A470V	probably benign	Het
Gm6401	C	T	14: 41,966,894 (GRCm38)	E73K	possibly damaging	Het
Ighv7-1	A	T	12: 113,896,525 (GRCm38)	S82R	probably damaging	Het
Klk1b4	A	G	7: 44,211,595 (GRCm38)	I221V	probably benign	Het
Lama3	T	C	18: 12,468,368 (GRCm38)		probably benign	Het
Lrch1	A	G	14: 74,813,620 (GRCm38)	L359P	probably damaging	Het
Mapk8ip3	T	C	17: 24,901,515 (GRCm38)	T882A	probably benign	Het
Med12	C	T	X: 101,278,078 (GRCm38)	R456W	probably damaging	Het
Mms22l	T	C	4: 24,521,253 (GRCm38)	S267P	probably damaging	Het
Mtpap	G	A	18: 4,375,721 (GRCm38)	G34R	possibly damaging	Het
Nlrp9c	G	A	7: 26,372,082 (GRCm38)	T867I	probably damaging	Het
Nrap	C	T	19: 56,347,164 (GRCm38)	V941I	probably benign	Het
Olfr172	T	A	16: 58,761,148 (GRCm38)	K9N	probably benign	Het
Pcdh10	A	G	3: 45,379,502 (GRCm38)	I84V	probably damaging	Het
Polr3d	T	A	14: 70,441,163 (GRCm38)		probably null	Het
Prkar2a	G	T	9: 108,740,441 (GRCm38)	V233L	probably benign	Het
Prl4a1	T	C	13: 28,023,376 (GRCm38)	V211A	probably damaging	Het
Qpct	T	C	17: 79,070,722 (GRCm38)	V107A	probably benign	Het
Rai1	T	C	11: 60,188,205 (GRCm38)	S1032P	possibly damaging	Het
Rims1	G	T	1: 22,296,954 (GRCm38)	T1113K	probably damaging	Het
Rxra	C	T	2: 27,759,645 (GRCm38)	T454I	probably damaging	Het
S100z	T	C	13: 95,478,619 (GRCm38)	I13V	probably damaging	Het
Scp2	T	C	4: 108,091,280 (GRCm38)	K167E	probably benign	Het
Sephs2	A	G	7: 127,273,034 (GRCm38)	F296L	probably benign	Het
Setd1b	A	G	5: 123,148,451 (GRCm38)	E520G	unknown	Het
Slc28a2	G	A	2: 122,452,538 (GRCm38)	V308M	possibly damaging	Het
Smarcad1	T	A	6: 65,083,889 (GRCm38)	I451K	probably benign	Het
Tarbp1	C	T	8: 126,444,142 (GRCm38)	D1040N	probably damaging	Het
Tdrd6	T	C	17: 43,625,432 (GRCm38)	D1575G	probably damaging	Het
Tll1	T	A	8: 64,074,217 (GRCm38)		probably benign	Het
Tsks	A	T	7: 44,950,774 (GRCm38)		probably benign	Het
Ttc1	A	T	11: 43,745,320 (GRCm38)	M32K	probably benign	Het
Txlnb	C	T	10: 17,838,975 (GRCm38)	A385V	probably damaging	Het
Zc4h2	T	C	X: 95,643,413 (GRCm38)	H98R	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
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	79,578,272 (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

Posted On

2016-08-02