Incidental Mutation 'IGL00225:Nf1'
ID | 2215 |
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
|
Is this an essential gene? |
Essential (E-score: 1.000)
|
Stock # | IGL00225
|
Quality Score | |
Status |
|
Chromosome | 11 |
Chromosomal Location | 79339693-79581612 bp(+) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
T to A
at 79395905 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 177
(I177K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103886
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071325]
[ENSMUST00000108251]
[ENSMUST00000219057]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071325
AA Change: I177K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000071289 Gene: ENSMUSG00000020716 AA Change: I177K
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: I177K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103886 Gene: ENSMUSG00000020716 AA Change: I177K
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: ENSMUST00000131800
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219057
AA Change: I177K
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
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: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Flii |
T |
C |
11: 60,723,415 |
N93D |
probably benign |
Het |
Gm8356 |
T |
C |
14: 6,537,141 |
K24E |
probably damaging |
Het |
Hars |
G |
A |
18: 36,768,172 |
T409M |
probably damaging |
Het |
Ivns1abp |
A |
G |
1: 151,351,112 |
|
probably null |
Het |
Kcnq4 |
G |
A |
4: 120,698,016 |
Q657* |
probably null |
Het |
Kdm4c |
T |
G |
4: 74,345,567 |
V696G |
probably benign |
Het |
Klrb1f |
T |
A |
6: 129,053,175 |
|
probably benign |
Het |
Lrp4 |
G |
A |
2: 91,495,026 |
V1399I |
probably benign |
Het |
Mki67 |
A |
G |
7: 135,690,120 |
V3168A |
probably benign |
Het |
Nnt |
A |
T |
13: 119,369,997 |
N371K |
probably damaging |
Het |
Olfr472 |
C |
T |
7: 107,903,104 |
P129L |
probably damaging |
Het |
Olfr60 |
A |
G |
7: 140,345,210 |
Y260H |
probably damaging |
Het |
Oraov1 |
G |
A |
7: 144,917,668 |
G86D |
possibly damaging |
Het |
Prkdc |
G |
T |
16: 15,809,644 |
V3389L |
possibly damaging |
Het |
Prr16 |
T |
A |
18: 51,303,120 |
Y224N |
possibly damaging |
Het |
Ptgs1 |
G |
A |
2: 36,237,219 |
C39Y |
probably damaging |
Het |
Sla |
T |
C |
15: 66,782,630 |
D269G |
possibly damaging |
Het |
Stk38l |
T |
A |
6: 146,758,473 |
M1K |
probably null |
Het |
Trim24 |
T |
A |
6: 37,903,648 |
N160K |
possibly damaging |
Het |
Zfp451 |
A |
G |
1: 33,786,540 |
|
probably benign |
Het |
|
Other mutations in Nf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00801:Nf1
|
APN |
11 |
79428700 |
splice site |
probably benign |
|
IGL00823:Nf1
|
APN |
11 |
79565517 |
missense |
probably damaging |
1.00 |
IGL00945:Nf1
|
APN |
11 |
79469803 |
missense |
probably damaging |
0.99 |
IGL00960:Nf1
|
APN |
11 |
79445121 |
missense |
probably damaging |
1.00 |
IGL01118:Nf1
|
APN |
11 |
79546986 |
missense |
probably damaging |
0.99 |
IGL01604:Nf1
|
APN |
11 |
79441709 |
splice site |
probably benign |
|
IGL01637:Nf1
|
APN |
11 |
79547120 |
missense |
probably damaging |
1.00 |
IGL01659:Nf1
|
APN |
11 |
79559449 |
missense |
probably benign |
|
IGL01764:Nf1
|
APN |
11 |
79384187 |
missense |
probably benign |
|
IGL01772:Nf1
|
APN |
11 |
79390249 |
missense |
probably damaging |
1.00 |
IGL02047:Nf1
|
APN |
11 |
79425535 |
missense |
probably benign |
0.04 |
IGL02052:Nf1
|
APN |
11 |
79412727 |
missense |
probably damaging |
1.00 |
IGL02071:Nf1
|
APN |
11 |
79444121 |
missense |
possibly damaging |
0.96 |
IGL02312:Nf1
|
APN |
11 |
79444648 |
missense |
possibly damaging |
0.95 |
IGL02341:Nf1
|
APN |
11 |
79564926 |
missense |
probably benign |
0.33 |
IGL02390:Nf1
|
APN |
11 |
79565935 |
missense |
possibly damaging |
0.64 |
IGL02390:Nf1
|
APN |
11 |
79411676 |
splice site |
probably benign |
|
IGL02475:Nf1
|
APN |
11 |
79535667 |
missense |
probably damaging |
1.00 |
IGL02567:Nf1
|
APN |
11 |
79547143 |
missense |
probably damaging |
1.00 |
IGL02571:Nf1
|
APN |
11 |
79428627 |
missense |
probably damaging |
1.00 |
IGL02664:Nf1
|
APN |
11 |
79444598 |
critical splice acceptor site |
probably null |
|
IGL02664:Nf1
|
APN |
11 |
79444599 |
critical splice acceptor site |
probably null |
|
IGL02992:Nf1
|
APN |
11 |
79434933 |
splice site |
probably benign |
|
IGL03006:Nf1
|
APN |
11 |
79545431 |
missense |
probably damaging |
1.00 |
IGL03216:Nf1
|
APN |
11 |
79564895 |
missense |
probably benign |
0.17 |
Diesel
|
UTSW |
11 |
79556723 |
missense |
probably damaging |
0.96 |
Franklin
|
UTSW |
11 |
79473320 |
splice site |
probably null |
|
Gasoline
|
UTSW |
11 |
79556789 |
missense |
probably benign |
0.17 |
hancock
|
UTSW |
11 |
79536850 |
missense |
probably benign |
|
jackson
|
UTSW |
11 |
79447572 |
missense |
probably damaging |
1.00 |
Jefferson
|
UTSW |
11 |
79446864 |
missense |
probably damaging |
1.00 |
Phyletic_dwarf
|
UTSW |
11 |
79454189 |
missense |
probably damaging |
1.00 |
C9142:Nf1
|
UTSW |
11 |
79556731 |
missense |
probably damaging |
0.98 |
I2289:Nf1
|
UTSW |
11 |
79547776 |
missense |
probably damaging |
1.00 |
R0055:Nf1
|
UTSW |
11 |
79471551 |
missense |
probably damaging |
1.00 |
R0055:Nf1
|
UTSW |
11 |
79471551 |
missense |
probably damaging |
1.00 |
R0081:Nf1
|
UTSW |
11 |
79453979 |
splice site |
probably benign |
|
R0115:Nf1
|
UTSW |
11 |
79468876 |
critical splice donor site |
probably null |
|
R0144:Nf1
|
UTSW |
11 |
79547127 |
missense |
probably damaging |
1.00 |
R0196:Nf1
|
UTSW |
11 |
79468769 |
missense |
possibly damaging |
0.94 |
R0196:Nf1
|
UTSW |
11 |
79578272 |
missense |
probably damaging |
1.00 |
R0217:Nf1
|
UTSW |
11 |
79428574 |
splice site |
probably benign |
|
R0238:Nf1
|
UTSW |
11 |
79418574 |
missense |
possibly damaging |
0.89 |
R0238:Nf1
|
UTSW |
11 |
79418574 |
missense |
possibly damaging |
0.89 |
R0239:Nf1
|
UTSW |
11 |
79418574 |
missense |
possibly damaging |
0.89 |
R0239:Nf1
|
UTSW |
11 |
79418574 |
missense |
possibly damaging |
0.89 |
R0255:Nf1
|
UTSW |
11 |
79408699 |
splice site |
probably null |
|
R0362:Nf1
|
UTSW |
11 |
79536878 |
missense |
probably damaging |
1.00 |
R0364:Nf1
|
UTSW |
11 |
79441957 |
nonsense |
probably null |
|
R0464:Nf1
|
UTSW |
11 |
79556789 |
missense |
probably benign |
0.17 |
R0511:Nf1
|
UTSW |
11 |
79438769 |
missense |
probably benign |
0.01 |
R0549:Nf1
|
UTSW |
11 |
79468771 |
missense |
probably damaging |
0.99 |
R0585:Nf1
|
UTSW |
11 |
79568701 |
missense |
probably damaging |
0.99 |
R0636:Nf1
|
UTSW |
11 |
79535703 |
missense |
probably damaging |
0.99 |
R0924:Nf1
|
UTSW |
11 |
79453866 |
missense |
probably damaging |
0.98 |
R0942:Nf1
|
UTSW |
11 |
79438711 |
missense |
probably benign |
0.00 |
R1022:Nf1
|
UTSW |
11 |
79547033 |
missense |
probably damaging |
1.00 |
R1024:Nf1
|
UTSW |
11 |
79547033 |
missense |
probably damaging |
1.00 |
R1350:Nf1
|
UTSW |
11 |
79412687 |
missense |
probably damaging |
1.00 |
R1365:Nf1
|
UTSW |
11 |
79547885 |
splice site |
probably null |
|
R1395:Nf1
|
UTSW |
11 |
79535983 |
missense |
possibly damaging |
0.49 |
R1467:Nf1
|
UTSW |
11 |
79428626 |
missense |
possibly damaging |
0.88 |
R1467:Nf1
|
UTSW |
11 |
79428626 |
missense |
possibly damaging |
0.88 |
R1477:Nf1
|
UTSW |
11 |
79395859 |
nonsense |
probably null |
|
R1508:Nf1
|
UTSW |
11 |
79440909 |
missense |
probably damaging |
1.00 |
R1512:Nf1
|
UTSW |
11 |
79390369 |
missense |
probably damaging |
1.00 |
R1605:Nf1
|
UTSW |
11 |
79440923 |
missense |
probably benign |
0.01 |
R1680:Nf1
|
UTSW |
11 |
79550998 |
nonsense |
probably null |
|
R1704:Nf1
|
UTSW |
11 |
79463301 |
splice site |
probably null |
|
R1707:Nf1
|
UTSW |
11 |
79535604 |
missense |
probably damaging |
1.00 |
R1741:Nf1
|
UTSW |
11 |
79443931 |
missense |
probably benign |
|
R1761:Nf1
|
UTSW |
11 |
79384265 |
missense |
probably damaging |
1.00 |
R1800:Nf1
|
UTSW |
11 |
79553968 |
missense |
possibly damaging |
0.94 |
R1873:Nf1
|
UTSW |
11 |
79547161 |
missense |
probably damaging |
1.00 |
R1966:Nf1
|
UTSW |
11 |
79411564 |
missense |
possibly damaging |
0.72 |
R1967:Nf1
|
UTSW |
11 |
79412745 |
missense |
probably damaging |
0.96 |
R1970:Nf1
|
UTSW |
11 |
79553961 |
missense |
probably benign |
0.08 |
R2059:Nf1
|
UTSW |
11 |
79556723 |
missense |
probably damaging |
0.96 |
R2105:Nf1
|
UTSW |
11 |
79469826 |
missense |
possibly damaging |
0.50 |
R2151:Nf1
|
UTSW |
11 |
79447570 |
missense |
possibly damaging |
0.94 |
R2211:Nf1
|
UTSW |
11 |
79444064 |
missense |
probably benign |
0.39 |
R2497:Nf1
|
UTSW |
11 |
79443884 |
missense |
probably damaging |
1.00 |
R2899:Nf1
|
UTSW |
11 |
79412758 |
missense |
possibly damaging |
0.93 |
R3086:Nf1
|
UTSW |
11 |
79546986 |
missense |
probably damaging |
1.00 |
R3120:Nf1
|
UTSW |
11 |
79564899 |
missense |
probably damaging |
0.99 |
R3744:Nf1
|
UTSW |
11 |
79548747 |
missense |
probably benign |
0.23 |
R3801:Nf1
|
UTSW |
11 |
79559521 |
missense |
probably null |
0.98 |
R3804:Nf1
|
UTSW |
11 |
79559521 |
missense |
probably null |
0.98 |
R4212:Nf1
|
UTSW |
11 |
79469798 |
missense |
probably damaging |
1.00 |
R4298:Nf1
|
UTSW |
11 |
79384244 |
missense |
probably damaging |
1.00 |
R4578:Nf1
|
UTSW |
11 |
79445759 |
missense |
probably damaging |
1.00 |
R4579:Nf1
|
UTSW |
11 |
79468757 |
missense |
probably damaging |
1.00 |
R4587:Nf1
|
UTSW |
11 |
79536037 |
critical splice donor site |
probably null |
|
R4793:Nf1
|
UTSW |
11 |
79447572 |
missense |
probably damaging |
1.00 |
R4834:Nf1
|
UTSW |
11 |
79546297 |
missense |
probably damaging |
1.00 |
R4863:Nf1
|
UTSW |
11 |
79409409 |
missense |
probably damaging |
1.00 |
R4967:Nf1
|
UTSW |
11 |
79565553 |
critical splice donor site |
probably null |
|
R4971:Nf1
|
UTSW |
11 |
79444643 |
missense |
probably damaging |
1.00 |
R5034:Nf1
|
UTSW |
11 |
79444150 |
missense |
probably damaging |
0.98 |
R5036:Nf1
|
UTSW |
11 |
79446864 |
missense |
probably damaging |
1.00 |
R5207:Nf1
|
UTSW |
11 |
79454189 |
missense |
probably damaging |
1.00 |
R5348:Nf1
|
UTSW |
11 |
79564899 |
missense |
probably damaging |
1.00 |
R5356:Nf1
|
UTSW |
11 |
79473456 |
missense |
possibly damaging |
0.94 |
R5444:Nf1
|
UTSW |
11 |
79443959 |
missense |
possibly damaging |
0.94 |
R5533:Nf1
|
UTSW |
11 |
79445789 |
missense |
probably damaging |
0.99 |
R5918:Nf1
|
UTSW |
11 |
79569222 |
intron |
probably benign |
|
R5978:Nf1
|
UTSW |
11 |
79540419 |
missense |
probably damaging |
1.00 |
R6140:Nf1
|
UTSW |
11 |
79473320 |
splice site |
probably null |
|
R6195:Nf1
|
UTSW |
11 |
79565975 |
missense |
probably damaging |
0.99 |
R6216:Nf1
|
UTSW |
11 |
79411607 |
missense |
possibly damaging |
0.93 |
R6233:Nf1
|
UTSW |
11 |
79565975 |
missense |
probably damaging |
0.99 |
R6257:Nf1
|
UTSW |
11 |
79549491 |
missense |
probably damaging |
1.00 |
R6258:Nf1
|
UTSW |
11 |
79565755 |
splice site |
probably null |
|
R6756:Nf1
|
UTSW |
11 |
79444587 |
splice site |
probably null |
|
R6878:Nf1
|
UTSW |
11 |
79434882 |
missense |
probably damaging |
1.00 |
R6959:Nf1
|
UTSW |
11 |
79549468 |
missense |
probably damaging |
0.98 |
R7007:Nf1
|
UTSW |
11 |
79447023 |
splice site |
probably null |
|
R7066:Nf1
|
UTSW |
11 |
79556720 |
missense |
probably damaging |
1.00 |
R7099:Nf1
|
UTSW |
11 |
79570330 |
missense |
probably benign |
0.08 |
R7213:Nf1
|
UTSW |
11 |
79469819 |
missense |
probably benign |
0.23 |
R7326:Nf1
|
UTSW |
11 |
79564943 |
missense |
probably benign |
|
R7348:Nf1
|
UTSW |
11 |
79536850 |
missense |
probably benign |
|
R7380:Nf1
|
UTSW |
11 |
79546276 |
missense |
probably damaging |
1.00 |
R7407:Nf1
|
UTSW |
11 |
79448143 |
missense |
probably damaging |
1.00 |
R7412:Nf1
|
UTSW |
11 |
79473414 |
missense |
probably damaging |
1.00 |
R7545:Nf1
|
UTSW |
11 |
79409524 |
missense |
probably benign |
|
R7567:Nf1
|
UTSW |
11 |
79547226 |
missense |
probably damaging |
0.99 |
R7574:Nf1
|
UTSW |
11 |
79408769 |
missense |
probably null |
0.99 |
R7616:Nf1
|
UTSW |
11 |
79384266 |
missense |
probably damaging |
0.97 |
R7713:Nf1
|
UTSW |
11 |
79425606 |
missense |
probably benign |
|
R7737:Nf1
|
UTSW |
11 |
79545488 |
missense |
probably benign |
0.33 |
R7869:Nf1
|
UTSW |
11 |
79418588 |
missense |
probably damaging |
1.00 |
R7905:Nf1
|
UTSW |
11 |
79547112 |
missense |
possibly damaging |
0.80 |
R8232:Nf1
|
UTSW |
11 |
79578331 |
missense |
probably damaging |
0.96 |
R8244:Nf1
|
UTSW |
11 |
79440924 |
missense |
probably benign |
|
R8397:Nf1
|
UTSW |
11 |
79547692 |
missense |
probably damaging |
1.00 |
R8436:Nf1
|
UTSW |
11 |
79458883 |
missense |
probably damaging |
0.99 |
R8492:Nf1
|
UTSW |
11 |
79408422 |
missense |
probably benign |
0.06 |
X0052:Nf1
|
UTSW |
11 |
79559416 |
missense |
probably damaging |
0.99 |
Z1177:Nf1
|
UTSW |
11 |
79564925 |
missense |
probably benign |
0.00 |
|
Posted On | 2011-12-09 |