Incidental Mutation 'R4343:Diras1'
| ID |
324234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Diras1
|
| Ensembl Gene |
ENSMUSG00000043670 |
| Gene Name |
DIRAS family, GTP-binding RAS-like 1 |
| Synonyms |
GBTS1, Di-Ras1 |
| MMRRC Submission |
041665-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.266)
|
| Stock # |
R4343 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
80855423-80861496 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 80858018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 78
(K78*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055125]
[ENSMUST00000144640]
|
| AlphaFold |
Q91Z61 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000055125
AA Change: K78*
|
| SMART Domains |
Protein: ENSMUSP00000055605
Gene: ENSMUSG00000043670
AA Change: K78*
| Domain | Start | End | E-Value | Type |
|---|
|
RAS
|
5 |
171 |
1.14e-82 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000144640
AA Change: K78*
|
| SMART Domains |
Protein: ENSMUSP00000120173
Gene: ENSMUSG00000043670
AA Change: K78*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miro
|
9 |
108 |
3.4e-17 |
PFAM |
|
Pfam:Ras
|
9 |
108 |
2.4e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151303
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151873
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DIRAS1 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004]
|
| Allele List at MGI |
All alleles(5) : Targeted(3) Gene trapped(2)
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd38 |
A |
C |
5: 44,026,431 (GRCm39) |
I72L |
probably benign |
Het |
| Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
| Gm8674 |
T |
A |
13: 50,053,742 (GRCm39) |
|
noncoding transcript |
Het |
| Gnal |
T |
C |
18: 67,268,659 (GRCm39) |
S182P |
probably benign |
Het |
| Grik1 |
T |
C |
16: 87,693,140 (GRCm39) |
T932A |
probably benign |
Het |
| Igf2r |
C |
T |
17: 12,928,398 (GRCm39) |
E982K |
possibly damaging |
Het |
| Lepr |
G |
A |
4: 101,622,349 (GRCm39) |
|
probably null |
Het |
| Mical3 |
C |
A |
6: 120,911,799 (GRCm39) |
E1083* |
probably null |
Het |
| Mki67 |
A |
G |
7: 135,296,847 (GRCm39) |
V2729A |
probably benign |
Het |
| Mmp20 |
GA |
GAA |
9: 7,628,346 (GRCm39) |
|
probably null |
Het |
| Myo7b |
A |
G |
18: 32,116,680 (GRCm39) |
F976L |
probably damaging |
Het |
| Nfasc |
A |
G |
1: 132,559,443 (GRCm39) |
F229S |
probably damaging |
Het |
| Npc1l1 |
G |
A |
11: 6,167,773 (GRCm39) |
T1006I |
probably benign |
Het |
| Or5g9 |
T |
A |
2: 85,552,592 (GRCm39) |
V281E |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,501,780 (GRCm39) |
E656G |
probably damaging |
Het |
| Prep |
C |
A |
10: 44,996,866 (GRCm39) |
S381R |
probably damaging |
Het |
| Rab31 |
C |
T |
17: 65,961,414 (GRCm39) |
R192H |
probably benign |
Het |
| Rbm5 |
T |
C |
9: 107,629,395 (GRCm39) |
D319G |
probably damaging |
Het |
| Rexo2 |
T |
C |
9: 48,380,148 (GRCm39) |
E228G |
possibly damaging |
Het |
| Rrn3 |
A |
G |
16: 13,601,986 (GRCm39) |
D80G |
probably benign |
Het |
| Slc38a3 |
A |
G |
9: 107,533,671 (GRCm39) |
V224A |
possibly damaging |
Het |
| Slc66a2 |
A |
G |
18: 80,327,004 (GRCm39) |
|
probably benign |
Het |
| Sycp2 |
T |
C |
2: 178,022,740 (GRCm39) |
T464A |
probably damaging |
Het |
| Tpcn1 |
A |
T |
5: 120,698,285 (GRCm39) |
L79H |
probably damaging |
Het |
| Trim30a |
T |
C |
7: 104,084,799 (GRCm39) |
Q137R |
probably benign |
Het |
| Tyrp1 |
A |
G |
4: 80,768,078 (GRCm39) |
D92G |
possibly damaging |
Het |
| Ugt1a6a |
T |
C |
1: 88,066,248 (GRCm39) |
L18P |
probably damaging |
Het |
| Ugt2b5 |
A |
T |
5: 87,287,582 (GRCm39) |
V195E |
probably damaging |
Het |
| Zmym2 |
T |
A |
14: 57,159,019 (GRCm39) |
M598K |
probably damaging |
Het |
|
| Other mutations in Diras1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01123:Diras1
|
APN |
10 |
80,858,249 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
|
IGL02574:Diras1
|
APN |
10 |
80,858,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03178:Diras1
|
APN |
10 |
80,858,211 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0044:Diras1
|
UTSW |
10 |
80,857,972 (GRCm39) |
nonsense |
probably null |
|
|
R0044:Diras1
|
UTSW |
10 |
80,857,972 (GRCm39) |
nonsense |
probably null |
|
|
R5289:Diras1
|
UTSW |
10 |
80,858,078 (GRCm39) |
nonsense |
probably null |
|
|
R5707:Diras1
|
UTSW |
10 |
80,857,915 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7752:Diras1
|
UTSW |
10 |
80,857,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Diras1
|
UTSW |
10 |
80,858,116 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTTTCCATGAAGGCGCAC -3'
(R):5'- ACAGAGCAATGACTACCGTGTG -3'
Sequencing Primer
(F):5'- AAGGCGCACTTCCACTCCTG -3'
(R):5'- GGTCGTGTTCGGCGCAG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation