Incidental Mutation 'R9112:Nras'
| ID |
692283 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nras
|
| Ensembl Gene |
ENSMUSG00000027852 |
| Gene Name |
neuroblastoma ras oncogene |
| Synonyms |
N-ras |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.766)
|
| Stock # |
R9112 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
102965643-102975230 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102967658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 85
(N85Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029445]
[ENSMUST00000029446]
[ENSMUST00000128264]
[ENSMUST00000196355]
[ENSMUST00000197488]
[ENSMUST00000197678]
[ENSMUST00000197827]
[ENSMUST00000198180]
[ENSMUST00000199049]
[ENSMUST00000199240]
[ENSMUST00000199367]
[ENSMUST00000199420]
[ENSMUST00000199571]
[ENSMUST00000200069]
[ENSMUST00000200457]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029445
AA Change: N85Y
PolyPhen 2
Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000029445
Gene: ENSMUSG00000027852
AA Change: N85Y
| Domain | Start | End | E-Value | Type |
|---|
|
RAS
|
1 |
166 |
1.09e-120 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029446
|
| SMART Domains |
Protein: ENSMUSP00000029446
Gene: ENSMUSG00000068823
| Domain | Start | End | E-Value | Type |
|---|
|
CSP
|
27 |
90 |
3.11e-16 |
SMART |
|
CSP
|
187 |
248 |
1.52e-19 |
SMART |
|
CSP
|
350 |
413 |
6.22e-16 |
SMART |
|
CSP
|
520 |
582 |
2.86e-15 |
SMART |
|
CSP
|
675 |
738 |
2.2e-16 |
SMART |
|
Pfam:SUZ-C
|
757 |
788 |
3.3e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128264
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196355
AA Change: N85Y
PolyPhen 2
Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142438
Gene: ENSMUSG00000027852
AA Change: N85Y
| Domain | Start | End | E-Value | Type |
|---|
|
RAS
|
1 |
166 |
1.09e-120 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197488
|
| SMART Domains |
Protein: ENSMUSP00000143524
Gene: ENSMUSG00000068823
| Domain | Start | End | E-Value | Type |
|---|
|
CSP
|
27 |
90 |
3.11e-16 |
SMART |
|
CSP
|
156 |
217 |
1.52e-19 |
SMART |
|
CSP
|
319 |
382 |
6.22e-16 |
SMART |
|
CSP
|
489 |
551 |
2.86e-15 |
SMART |
|
CSP
|
644 |
707 |
2.2e-16 |
SMART |
|
Pfam:SUZ-C
|
726 |
757 |
1.7e-13 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197678
AA Change: N85Y
PolyPhen 2
Score 0.474 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142603
Gene: ENSMUSG00000027852
AA Change: N85Y
| Domain | Start | End | E-Value | Type |
|---|
|
RAS
|
1 |
150 |
4.08e-102 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197827
|
| SMART Domains |
Protein: ENSMUSP00000143503
Gene: ENSMUSG00000068823
| Domain | Start | End | E-Value | Type |
|---|
|
CSP
|
27 |
90 |
3.11e-16 |
SMART |
|
CSP
|
187 |
248 |
1.52e-19 |
SMART |
|
CSP
|
350 |
413 |
6.22e-16 |
SMART |
|
CSP
|
520 |
582 |
2.86e-15 |
SMART |
|
CSP
|
675 |
738 |
2.2e-16 |
SMART |
|
Pfam:SUZ-C
|
757 |
788 |
3.3e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198174
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198180
|
| SMART Domains |
Protein: ENSMUSP00000142983
Gene: ENSMUSG00000068823
| Domain | Start | End | E-Value | Type |
|---|
|
CSP
|
27 |
90 |
3.11e-16 |
SMART |
|
CSP
|
156 |
217 |
1.52e-19 |
SMART |
|
CSP
|
319 |
382 |
6.22e-16 |
SMART |
|
CSP
|
489 |
551 |
2.86e-15 |
SMART |
|
CSP
|
644 |
707 |
2.2e-16 |
SMART |
|
Pfam:SUZ-C
|
725 |
758 |
5.4e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199049
AA Change: N85Y
PolyPhen 2
Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143644
Gene: ENSMUSG00000027852
AA Change: N85Y
| Domain | Start | End | E-Value | Type |
|---|
|
RAS
|
1 |
166 |
5.3e-123 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199240
|
| SMART Domains |
Protein: ENSMUSP00000143050
Gene: ENSMUSG00000068823
| Domain | Start | End | E-Value | Type |
|---|
|
CSP
|
57 |
118 |
9e-22 |
SMART |
|
CSP
|
220 |
283 |
3.8e-18 |
SMART |
|
CSP
|
390 |
452 |
1.7e-17 |
SMART |
|
CSP
|
545 |
608 |
1.4e-18 |
SMART |
|
Pfam:SUZ-C
|
626 |
659 |
6.2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199367
|
| SMART Domains |
Protein: ENSMUSP00000143620
Gene: ENSMUSG00000027852
| Domain | Start | End | E-Value | Type |
|---|
|
small_GTPase
|
1 |
74 |
1.2e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199420
|
| SMART Domains |
Protein: ENSMUSP00000142703
Gene: ENSMUSG00000068823
| Domain | Start | End | E-Value | Type |
|---|
|
CSP
|
27 |
90 |
3.11e-16 |
SMART |
|
CSP
|
156 |
217 |
1.52e-19 |
SMART |
|
CSP
|
319 |
382 |
6.22e-16 |
SMART |
|
CSP
|
489 |
551 |
2.86e-15 |
SMART |
|
CSP
|
644 |
707 |
2.2e-16 |
SMART |
|
Pfam:SUZ-C
|
725 |
758 |
5.4e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199571
|
| SMART Domains |
Protein: ENSMUSP00000143028
Gene: ENSMUSG00000068823
| Domain | Start | End | E-Value | Type |
|---|
|
CSP
|
27 |
90 |
3.11e-16 |
SMART |
|
CSP
|
156 |
217 |
1.52e-19 |
SMART |
|
CSP
|
319 |
382 |
6.22e-16 |
SMART |
|
CSP
|
489 |
551 |
2.86e-15 |
SMART |
|
CSP
|
644 |
707 |
2.2e-16 |
SMART |
|
Pfam:SUZ-C
|
725 |
758 |
5.4e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200069
AA Change: N85Y
PolyPhen 2
Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143391
Gene: ENSMUSG00000027852
AA Change: N85Y
| Domain | Start | End | E-Value | Type |
|---|
|
RAS
|
1 |
166 |
1.09e-120 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200457
|
| Meta Mutation Damage Score |
0.4299 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This is an N-ras oncogene encoding a membrane protein that shuttles between the Golgi apparatus and the plasma membrane. This shuttling is regulated through palmitoylation and depalmitoylation by the ZDHHC9-GOLGA7 complex. The encoded protein, which has intrinsic GTPase activity, is activated by a guanine nucleotide-exchange factor and inactivated by a GTPase activating protein. Mutations in this gene have been associated with somatic rectal cancer, follicular thyroid cancer, autoimmune lymphoproliferative syndrome, Noonan syndrome, and juvenile myelomonocytic leukemia. [provided by RefSeq, Jun 2011]
PHENOTYPE: Mice homozygous for a targeted mutation are viable and fertile with no gross morphological or histological abnormalities, or defects in peripheral blood cell populations. Mice homozygous for an LTR insertion in intron 1 exhibit weight loss immune defectsand postnatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310033P09Rik |
A |
G |
11: 59,100,806 (GRCm39) |
S181G |
possibly damaging |
Het |
| 5730596B20Rik |
A |
G |
6: 52,156,413 (GRCm39) |
R160G |
unknown |
Het |
| Acy1 |
A |
G |
9: 106,311,952 (GRCm39) |
Y262H |
probably benign |
Het |
| Adamts13 |
T |
C |
2: 26,880,379 (GRCm39) |
S681P |
possibly damaging |
Het |
| Adgra3 |
C |
A |
5: 50,118,395 (GRCm39) |
C1051F |
probably damaging |
Het |
| Afp |
T |
C |
5: 90,652,289 (GRCm39) |
|
probably null |
Het |
| Agrn |
A |
T |
4: 156,261,514 (GRCm39) |
V568E |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,987,149 (GRCm39) |
E2811G |
probably damaging |
Het |
| Ap1m1 |
C |
A |
8: 72,994,066 (GRCm39) |
Y7* |
probably null |
Het |
| Apobec1 |
T |
A |
6: 122,555,837 (GRCm39) |
T207S |
probably benign |
Het |
| Arhgap32 |
G |
A |
9: 32,157,309 (GRCm39) |
R102Q |
probably damaging |
Het |
| Bcat2 |
T |
C |
7: 45,237,446 (GRCm39) |
|
probably null |
Het |
| Cd209f |
T |
A |
8: 4,155,802 (GRCm39) |
|
probably benign |
Het |
| Cox7c |
G |
A |
13: 86,194,837 (GRCm39) |
|
probably benign |
Het |
| Cyp2d11 |
A |
G |
15: 82,276,203 (GRCm39) |
V156A |
possibly damaging |
Het |
| Dhrs3 |
A |
T |
4: 144,653,769 (GRCm39) |
T297S |
probably benign |
Het |
| Dip2c |
T |
C |
13: 9,660,766 (GRCm39) |
C876R |
probably damaging |
Het |
| Eprs1 |
A |
T |
1: 185,129,273 (GRCm39) |
I587F |
probably damaging |
Het |
| Fam13c |
A |
G |
10: 70,286,978 (GRCm39) |
T81A |
probably benign |
Het |
| Flt4 |
A |
G |
11: 49,524,064 (GRCm39) |
Y548C |
probably damaging |
Het |
| Garin2 |
T |
C |
12: 78,757,202 (GRCm39) |
|
probably null |
Het |
| Gimap4 |
T |
A |
6: 48,667,629 (GRCm39) |
V128E |
probably benign |
Het |
| Gm32742 |
A |
G |
9: 51,060,735 (GRCm39) |
L856P |
possibly damaging |
Het |
| Gm5916 |
A |
G |
9: 36,032,258 (GRCm39) |
Y59H |
probably damaging |
Het |
| Gnai3 |
A |
T |
3: 108,030,990 (GRCm39) |
H57Q |
|
Het |
| Golga3 |
G |
T |
5: 110,333,757 (GRCm39) |
R131L |
probably benign |
Het |
| Gpc6 |
A |
T |
14: 117,424,088 (GRCm39) |
I59F |
probably benign |
Het |
| H2bc6 |
T |
C |
13: 23,769,753 (GRCm39) |
M63V |
possibly damaging |
Het |
| Herc6 |
T |
C |
6: 57,596,604 (GRCm39) |
S515P |
probably damaging |
Het |
| Ift74 |
T |
C |
4: 94,575,103 (GRCm39) |
I518T |
probably benign |
Het |
| Kat6b |
T |
C |
14: 21,675,256 (GRCm39) |
S474P |
possibly damaging |
Het |
| Klhl3 |
A |
C |
13: 58,248,212 (GRCm39) |
I28S |
unknown |
Het |
| Klrh1 |
T |
A |
6: 129,743,697 (GRCm39) |
I196F |
probably benign |
Het |
| Lipi |
A |
G |
16: 75,359,159 (GRCm39) |
F259S |
probably damaging |
Het |
| Lrrc8a |
T |
A |
2: 30,145,782 (GRCm39) |
S199T |
probably damaging |
Het |
| Map2 |
T |
A |
1: 66,472,723 (GRCm39) |
C1709* |
probably null |
Het |
| Mrgprf |
A |
G |
7: 144,861,503 (GRCm39) |
S22G |
probably benign |
Het |
| Myo1e |
G |
T |
9: 70,274,983 (GRCm39) |
R712L |
probably benign |
Het |
| Or4a71 |
C |
T |
2: 89,358,337 (GRCm39) |
C139Y |
probably damaging |
Het |
| Or5b3 |
A |
T |
19: 13,388,475 (GRCm39) |
I181F |
probably benign |
Het |
| Or6ae1 |
A |
G |
7: 139,742,660 (GRCm39) |
S68P |
|
Het |
| Or9q2 |
T |
C |
19: 13,772,780 (GRCm39) |
H65R |
probably damaging |
Het |
| Pcp2 |
T |
A |
8: 3,674,638 (GRCm39) |
|
probably benign |
Het |
| Pigv |
T |
C |
4: 133,392,079 (GRCm39) |
R364G |
probably benign |
Het |
| Plekhh3 |
T |
A |
11: 101,061,625 (GRCm39) |
S30C |
probably damaging |
Het |
| Poglut3 |
A |
G |
9: 53,295,530 (GRCm39) |
Y44C |
probably damaging |
Het |
| Pramel11 |
A |
C |
4: 143,623,334 (GRCm39) |
V280G |
possibly damaging |
Het |
| Pramel51 |
C |
T |
12: 88,144,055 (GRCm39) |
A261T |
possibly damaging |
Het |
| Rhof |
T |
C |
5: 123,258,571 (GRCm39) |
|
probably benign |
Het |
| Rufy3 |
A |
T |
5: 88,780,336 (GRCm39) |
E361D |
|
Het |
| Serpina1b |
T |
C |
12: 103,698,699 (GRCm39) |
D50G |
probably benign |
Het |
| Sgsm2 |
G |
A |
11: 74,756,222 (GRCm39) |
Q376* |
probably null |
Het |
| Slc18b1 |
A |
T |
10: 23,692,262 (GRCm39) |
I246F |
probably damaging |
Het |
| Slc38a9 |
A |
T |
13: 112,850,777 (GRCm39) |
N387I |
probably damaging |
Het |
| Synrg |
C |
G |
11: 83,862,409 (GRCm39) |
P35A |
probably damaging |
Het |
| Tdrp |
T |
C |
8: 14,005,796 (GRCm39) |
K42E |
probably damaging |
Het |
| Trappc10 |
A |
C |
10: 78,029,201 (GRCm39) |
M1112R |
probably damaging |
Het |
| Ube2e1 |
A |
G |
14: 18,285,203 (GRCm38) |
V90A |
probably damaging |
Het |
| Vwde |
C |
A |
6: 13,205,051 (GRCm39) |
V277F |
possibly damaging |
Het |
| Zfyve16 |
A |
G |
13: 92,659,563 (GRCm39) |
M116T |
possibly damaging |
Het |
|
| Other mutations in Nras |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00978:Nras
|
APN |
3 |
102,966,232 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01443:Nras
|
APN |
3 |
102,969,751 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL03327:Nras
|
APN |
3 |
102,966,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0697:Nras
|
UTSW |
3 |
102,967,616 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1688:Nras
|
UTSW |
3 |
102,967,689 (GRCm39) |
missense |
probably benign |
|
|
R1753:Nras
|
UTSW |
3 |
102,966,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2296:Nras
|
UTSW |
3 |
102,966,350 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3977:Nras
|
UTSW |
3 |
102,967,541 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3979:Nras
|
UTSW |
3 |
102,967,541 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6087:Nras
|
UTSW |
3 |
102,967,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6194:Nras
|
UTSW |
3 |
102,966,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8469:Nras
|
UTSW |
3 |
102,966,217 (GRCm39) |
splice site |
probably benign |
|
|
R8776:Nras
|
UTSW |
3 |
102,966,176 (GRCm39) |
intron |
probably benign |
|
|
R9447:Nras
|
UTSW |
3 |
102,967,673 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGATTGAGCCTGTCCTTGTCC -3'
(R):5'- GGCACATATCTGCTGTTGC -3'
Sequencing Primer
(F):5'- ATTGATGGTGAGACCTGC -3'
(R):5'- GGCACATATCTGCTGTTGCACTTG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation