Incidental Mutation 'R6777:2900092C05Rik'
ID |
531335 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
2900092C05Rik
|
Ensembl Gene |
ENSMUSG00000030385 |
Gene Name |
RIKEN cDNA 2900092C05 gene |
Synonyms |
|
MMRRC Submission |
044893-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R6777 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
12246444-12290250 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 12246756 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 45
(L45F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032541
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032541]
|
AlphaFold |
Q5I0V9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032541
AA Change: L45F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000032541 Gene: ENSMUSG00000030385 AA Change: L45F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
Validation Efficiency |
100% (32/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam7 |
T |
C |
14: 68,762,784 (GRCm39) |
Y147C |
probably damaging |
Het |
Adss2 |
A |
T |
1: 177,603,902 (GRCm39) |
|
probably null |
Het |
Atp2c1 |
T |
A |
9: 105,295,799 (GRCm39) |
I812L |
possibly damaging |
Het |
Capn2 |
A |
G |
1: 182,297,742 (GRCm39) |
|
probably null |
Het |
Crybg3 |
A |
G |
16: 59,378,678 (GRCm39) |
|
probably benign |
Het |
Cux1 |
C |
G |
5: 136,594,422 (GRCm39) |
|
probably benign |
Het |
Dkk2 |
T |
A |
3: 131,879,572 (GRCm39) |
C84S |
probably damaging |
Het |
Eml3 |
T |
C |
19: 8,914,086 (GRCm39) |
V128A |
probably benign |
Het |
Fzr1 |
A |
G |
10: 81,206,327 (GRCm39) |
Y148H |
probably damaging |
Het |
Galnt9 |
G |
A |
5: 110,768,465 (GRCm39) |
R587H |
probably damaging |
Het |
Ganc |
A |
G |
2: 120,274,630 (GRCm39) |
T584A |
probably damaging |
Het |
Gldc |
T |
C |
19: 30,110,912 (GRCm39) |
T564A |
probably damaging |
Het |
Gm49359 |
A |
T |
13: 62,603,006 (GRCm39) |
C65S |
probably benign |
Het |
Hspa12a |
A |
G |
19: 58,810,519 (GRCm39) |
Y175H |
probably benign |
Het |
Ly6g |
A |
G |
15: 75,030,431 (GRCm39) |
D60G |
probably benign |
Het |
Or11j4 |
A |
T |
14: 50,631,115 (GRCm39) |
M301L |
probably damaging |
Het |
Pex1 |
T |
A |
5: 3,672,358 (GRCm39) |
C694S |
probably benign |
Het |
Pkd1l3 |
T |
C |
8: 110,353,446 (GRCm39) |
F676L |
probably benign |
Het |
Pla2g2c |
T |
C |
4: 138,470,976 (GRCm39) |
V119A |
probably benign |
Het |
Ralgps2 |
A |
G |
1: 156,715,515 (GRCm39) |
|
probably null |
Het |
Rbp3 |
C |
A |
14: 33,676,230 (GRCm39) |
H59Q |
probably benign |
Het |
Serpina3c |
T |
C |
12: 104,118,069 (GRCm39) |
K90E |
probably benign |
Het |
Slc24a3 |
A |
G |
2: 145,482,202 (GRCm39) |
Y620C |
probably damaging |
Het |
Smg1 |
C |
A |
7: 117,788,340 (GRCm39) |
|
probably benign |
Het |
Srp68 |
A |
T |
11: 116,153,730 (GRCm39) |
V198E |
probably damaging |
Het |
Ssx2ip |
C |
T |
3: 146,144,476 (GRCm39) |
T580M |
possibly damaging |
Het |
Terf2 |
A |
G |
8: 107,797,169 (GRCm39) |
V434A |
possibly damaging |
Het |
Tmem242 |
G |
A |
17: 5,483,830 (GRCm39) |
P71S |
probably damaging |
Het |
Tmprss13 |
C |
T |
9: 45,247,399 (GRCm39) |
R254* |
probably null |
Het |
Trgv3 |
A |
G |
13: 19,427,450 (GRCm39) |
Y111C |
probably damaging |
Het |
|
Other mutations in 2900092C05Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00714:2900092C05Rik
|
APN |
7 |
12,289,931 (GRCm39) |
splice site |
probably benign |
|
IGL01744:2900092C05Rik
|
APN |
7 |
12,284,459 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL03047:2900092C05Rik
|
UTSW |
7 |
12,246,568 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0001:2900092C05Rik
|
UTSW |
7 |
12,288,534 (GRCm39) |
splice site |
probably benign |
|
R0607:2900092C05Rik
|
UTSW |
7 |
12,288,625 (GRCm39) |
missense |
probably benign |
0.19 |
R0831:2900092C05Rik
|
UTSW |
7 |
12,284,523 (GRCm39) |
splice site |
probably benign |
|
R1468:2900092C05Rik
|
UTSW |
7 |
12,246,507 (GRCm39) |
start codon destroyed |
probably null |
0.83 |
R1468:2900092C05Rik
|
UTSW |
7 |
12,246,507 (GRCm39) |
start codon destroyed |
probably null |
0.83 |
R1846:2900092C05Rik
|
UTSW |
7 |
12,246,809 (GRCm39) |
missense |
probably benign |
0.38 |
R1852:2900092C05Rik
|
UTSW |
7 |
12,246,629 (GRCm39) |
splice site |
probably null |
|
R1912:2900092C05Rik
|
UTSW |
7 |
12,288,582 (GRCm39) |
missense |
probably benign |
0.01 |
R3442:2900092C05Rik
|
UTSW |
7 |
12,246,583 (GRCm39) |
nonsense |
probably null |
|
R3694:2900092C05Rik
|
UTSW |
7 |
12,284,443 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3751:2900092C05Rik
|
UTSW |
7 |
12,289,973 (GRCm39) |
missense |
probably benign |
0.02 |
R5977:2900092C05Rik
|
UTSW |
7 |
12,288,664 (GRCm39) |
missense |
probably benign |
0.17 |
R6158:2900092C05Rik
|
UTSW |
7 |
12,246,599 (GRCm39) |
missense |
probably benign |
0.37 |
R6931:2900092C05Rik
|
UTSW |
7 |
12,246,523 (GRCm39) |
missense |
unknown |
|
R7284:2900092C05Rik
|
UTSW |
7 |
12,246,605 (GRCm39) |
nonsense |
probably null |
|
R7406:2900092C05Rik
|
UTSW |
7 |
12,249,391 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8472:2900092C05Rik
|
UTSW |
7 |
12,246,568 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8802:2900092C05Rik
|
UTSW |
7 |
12,249,415 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8877:2900092C05Rik
|
UTSW |
7 |
12,288,704 (GRCm39) |
critical splice donor site |
probably null |
|
R9175:2900092C05Rik
|
UTSW |
7 |
12,249,412 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCAGATGAGCTTTATACTGTTGAG -3'
(R):5'- AGGCACATAGTACACTGAGGC -3'
Sequencing Primer
(F):5'- GAAAACAACAGACTTATCAGGTAGC -3'
(R):5'- CACATAGTACACTGAGGCTTAGAG -3'
|
Posted On |
2018-08-29 |