Incidental Mutation 'R9447:Nras'
| ID |
713980 |
| 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 # |
R9447 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
102965643-102975230 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102967673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 90
(F90L)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000029445
AA Change: F90L
PolyPhen 2
Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000029445
Gene: ENSMUSG00000027852
AA Change: F90L
| 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 |
possibly damaging
Transcript: ENSMUST00000196355
AA Change: F90L
PolyPhen 2
Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142438
Gene: ENSMUSG00000027852
AA Change: F90L
| 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: F90L
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142603
Gene: ENSMUSG00000027852
AA Change: F90L
| 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 |
possibly damaging
Transcript: ENSMUST00000199049
AA Change: F90L
PolyPhen 2
Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143644
Gene: ENSMUSG00000027852
AA Change: F90L
| 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 |
possibly damaging
Transcript: ENSMUST00000200069
AA Change: F90L
PolyPhen 2
Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143391
Gene: ENSMUSG00000027852
AA Change: F90L
| Domain | Start | End | E-Value | Type |
|---|
|
RAS
|
1 |
166 |
1.09e-120 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200457
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
T |
A |
3: 59,651,051 (GRCm39) |
Y58N |
probably damaging |
Het |
| Ago4 |
G |
A |
4: 126,402,151 (GRCm39) |
P572S |
probably benign |
Het |
| Akr1c19 |
A |
G |
13: 4,296,838 (GRCm39) |
I295V |
probably benign |
Het |
| Cadps2 |
A |
T |
6: 23,323,297 (GRCm39) |
I1007K |
probably damaging |
Het |
| Cd47 |
C |
A |
16: 49,715,822 (GRCm39) |
T196K |
|
Het |
| Cdrt4 |
T |
G |
11: 62,883,418 (GRCm39) |
L40R |
probably damaging |
Het |
| Cox16 |
A |
T |
12: 81,406,109 (GRCm39) |
C72S |
probably benign |
Het |
| Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
| Daxx |
A |
T |
17: 34,132,247 (GRCm39) |
D497V |
unknown |
Het |
| Ddt |
A |
G |
10: 75,608,671 (GRCm39) |
V62A |
possibly damaging |
Het |
| Dhx57 |
A |
G |
17: 80,549,523 (GRCm39) |
V1294A |
probably damaging |
Het |
| Dnaaf5 |
A |
G |
5: 139,163,743 (GRCm39) |
T667A |
probably damaging |
Het |
| Dnase2a |
A |
C |
8: 85,635,786 (GRCm39) |
S90R |
probably damaging |
Het |
| Dytn |
A |
G |
1: 63,700,302 (GRCm39) |
V276A |
|
Het |
| Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
| Enpp6 |
A |
T |
8: 47,483,600 (GRCm39) |
R131W |
probably damaging |
Het |
| Epm2a |
C |
T |
10: 11,324,432 (GRCm39) |
H174Y |
possibly damaging |
Het |
| Fcho1 |
A |
G |
8: 72,169,913 (GRCm39) |
L70P |
probably damaging |
Het |
| Fhip1b |
G |
T |
7: 105,034,155 (GRCm39) |
T492K |
probably benign |
Het |
| Fstl4 |
G |
T |
11: 53,077,166 (GRCm39) |
C641F |
probably damaging |
Het |
| Ganab |
C |
T |
19: 8,886,894 (GRCm39) |
H327Y |
probably damaging |
Het |
| Gkn1 |
A |
G |
6: 87,323,322 (GRCm39) |
Y164H |
probably benign |
Het |
| Gm57858 |
A |
G |
3: 36,074,195 (GRCm39) |
V318A |
possibly damaging |
Het |
| Hpf1 |
A |
G |
8: 61,348,618 (GRCm39) |
D111G |
probably damaging |
Het |
| Hs3st2 |
C |
T |
7: 120,992,289 (GRCm39) |
R113W |
probably damaging |
Het |
| Ighm |
A |
T |
12: 113,384,794 (GRCm39) |
L353Q |
|
Het |
| Krbox5 |
A |
G |
13: 67,981,953 (GRCm39) |
E55G |
probably damaging |
Het |
| Ksr1 |
T |
C |
11: 78,909,159 (GRCm39) |
D782G |
unknown |
Het |
| Lpin2 |
A |
G |
17: 71,539,087 (GRCm39) |
K392E |
unknown |
Het |
| Lrrc4 |
A |
G |
6: 28,830,650 (GRCm39) |
S322P |
probably benign |
Het |
| Man2a1 |
T |
C |
17: 64,966,001 (GRCm39) |
V313A |
possibly damaging |
Het |
| Mctp1 |
A |
G |
13: 76,727,904 (GRCm39) |
S9G |
probably benign |
Het |
| Morn5 |
A |
T |
2: 35,969,525 (GRCm39) |
|
probably null |
Het |
| Mroh2b |
C |
T |
15: 4,960,823 (GRCm39) |
A795V |
probably damaging |
Het |
| Ncf4 |
G |
T |
15: 78,146,499 (GRCm39) |
A310S |
probably benign |
Het |
| Nedd4 |
T |
C |
9: 72,577,381 (GRCm39) |
Y69H |
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 89,221,678 (GRCm39) |
F113L |
probably benign |
Het |
| Ntsr1 |
C |
T |
2: 180,180,540 (GRCm39) |
T282I |
probably benign |
Het |
| Or1e1d-ps1 |
G |
T |
11: 73,819,617 (GRCm39) |
C189F |
probably benign |
Het |
| Osbpl3 |
T |
A |
6: 50,321,857 (GRCm39) |
K310* |
probably null |
Het |
| Pcca |
T |
C |
14: 122,854,290 (GRCm39) |
V194A |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,525,192 (GRCm39) |
Y900C |
probably damaging |
Het |
| Prss22 |
T |
C |
17: 24,212,837 (GRCm39) |
D300G |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,764,119 (GRCm39) |
Y451N |
probably damaging |
Het |
| Rnf181 |
G |
T |
6: 72,337,570 (GRCm39) |
T97K |
probably damaging |
Het |
| Sec24d |
T |
C |
3: 123,084,162 (GRCm39) |
S114P |
probably benign |
Het |
| Siae |
C |
A |
9: 37,557,743 (GRCm39) |
Q517K |
probably benign |
Het |
| Smurf2 |
A |
T |
11: 106,715,548 (GRCm39) |
V653D |
probably damaging |
Het |
| Sqor |
C |
A |
2: 122,649,520 (GRCm39) |
T359K |
possibly damaging |
Het |
| Taf6 |
A |
T |
5: 138,176,970 (GRCm39) |
*637R |
probably null |
Het |
| Tas2r109 |
A |
C |
6: 132,957,270 (GRCm39) |
M220R |
probably damaging |
Het |
| Tlr2 |
T |
A |
3: 83,748,445 (GRCm39) |
|
probably null |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Tmem8b |
T |
G |
4: 43,685,766 (GRCm39) |
L179R |
probably damaging |
Het |
| Tnfrsf10b |
T |
A |
14: 70,013,608 (GRCm39) |
H179Q |
probably damaging |
Het |
| Trip11 |
T |
A |
12: 101,850,148 (GRCm39) |
K1305N |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,582,862 (GRCm39) |
W22677L |
probably damaging |
Het |
| Ube2r2 |
T |
C |
4: 41,190,655 (GRCm39) |
V183A |
probably damaging |
Het |
| Ubqln4 |
T |
A |
3: 88,464,124 (GRCm39) |
D208E |
probably benign |
Het |
| Ugt2a3 |
T |
A |
5: 87,473,330 (GRCm39) |
N529I |
probably benign |
Het |
| Vmn1r125 |
A |
G |
7: 21,006,627 (GRCm39) |
N175S |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,338,950 (GRCm39) |
I397K |
probably damaging |
Het |
| Zfp821 |
G |
A |
8: 110,450,816 (GRCm39) |
V270I |
probably damaging |
Het |
| Zfp935 |
A |
G |
13: 62,602,842 (GRCm39) |
V99A |
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 |
|
|
R9112:Nras
|
UTSW |
3 |
102,967,658 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATTGAGCCTGTCCTTGTC -3'
(R):5'- TGGCACATATCTGCTGTTGC -3'
Sequencing Primer
(F):5'- ACCTCCTCACTCTTTCATATTCCCAG -3'
(R):5'- GGCACATATCTGCTGTTGCACTTG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation