Incidental Mutation 'IGL02810:2900026A02Rik'
| ID |
360539 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
2900026A02Rik
|
| Ensembl Gene |
ENSMUSG00000051339 |
| Gene Name |
RIKEN cDNA 2900026A02 gene |
| Synonyms |
LOC231620, Gm449 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
IGL02810
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
113234189-113369102 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113249401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 1491
(K1491E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147419
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050125]
[ENSMUST00000211733]
[ENSMUST00000212276]
|
| AlphaFold |
Q8BRV5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050125
AA Change: K32E
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000058789
Gene: ENSMUSG00000051339
AA Change: K32E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
62 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
109 |
N/A |
INTRINSIC |
|
Tankyrase_bdg_C
|
130 |
299 |
5.69e-103 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197597
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211733
AA Change: K1491E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212276
AA Change: K109E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
T |
C |
16: 56,498,138 (GRCm39) |
S696P |
probably damaging |
Het |
| Ago1 |
A |
G |
4: 126,336,886 (GRCm39) |
V273A |
probably benign |
Het |
| Atosb |
C |
A |
4: 43,034,429 (GRCm39) |
V389F |
probably damaging |
Het |
| Bbs2 |
A |
G |
8: 94,813,539 (GRCm39) |
Y213H |
probably benign |
Het |
| Car10 |
T |
A |
11: 93,469,522 (GRCm39) |
Y142N |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,799,016 (GRCm39) |
K415E |
possibly damaging |
Het |
| Exoc3l |
A |
T |
8: 106,021,980 (GRCm39) |
I41N |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 16,288,146 (GRCm39) |
D459G |
probably damaging |
Het |
| Gabbr1 |
T |
C |
17: 37,373,654 (GRCm39) |
F401L |
probably damaging |
Het |
| Galnt10 |
G |
A |
11: 57,616,412 (GRCm39) |
R109Q |
probably damaging |
Het |
| Gpr108 |
C |
T |
17: 57,549,742 (GRCm39) |
D265N |
probably benign |
Het |
| Helb |
T |
C |
10: 119,927,608 (GRCm39) |
N834S |
possibly damaging |
Het |
| Igkv8-30 |
A |
G |
6: 70,094,342 (GRCm39) |
V23A |
probably benign |
Het |
| Iqck |
A |
T |
7: 118,570,662 (GRCm39) |
K271N |
possibly damaging |
Het |
| Klhl17 |
T |
C |
4: 156,318,514 (GRCm39) |
E36G |
possibly damaging |
Het |
| Klrb1b |
A |
G |
6: 128,795,430 (GRCm39) |
|
probably null |
Het |
| Mybl1 |
G |
A |
1: 9,743,340 (GRCm39) |
P571S |
probably damaging |
Het |
| Mybl1 |
T |
C |
1: 9,748,613 (GRCm39) |
T328A |
probably benign |
Het |
| Nav3 |
A |
T |
10: 109,652,135 (GRCm39) |
D873E |
probably damaging |
Het |
| Nms |
T |
C |
1: 38,987,725 (GRCm39) |
Y147H |
possibly damaging |
Het |
| Nrde2 |
A |
T |
12: 100,110,017 (GRCm39) |
M338K |
possibly damaging |
Het |
| Oasl2 |
T |
A |
5: 115,035,852 (GRCm39) |
F43I |
probably damaging |
Het |
| Oxr1 |
G |
A |
15: 41,676,979 (GRCm39) |
V91I |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,613,942 (GRCm39) |
C503Y |
probably benign |
Het |
| Polr2m |
A |
T |
9: 71,390,848 (GRCm39) |
I14K |
probably benign |
Het |
| Ppara |
T |
C |
15: 85,661,878 (GRCm39) |
S40P |
probably damaging |
Het |
| Shisa6 |
T |
A |
11: 66,115,774 (GRCm39) |
T288S |
possibly damaging |
Het |
| Slc26a5 |
T |
C |
5: 22,018,381 (GRCm39) |
|
probably benign |
Het |
| Spag1 |
A |
G |
15: 36,234,693 (GRCm39) |
N818D |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,120,835 (GRCm39) |
|
probably null |
Het |
| Tctn1 |
C |
T |
5: 122,380,664 (GRCm39) |
|
probably null |
Het |
| Triobp |
A |
G |
15: 78,886,403 (GRCm39) |
N507S |
possibly damaging |
Het |
| Tut7 |
A |
G |
13: 59,929,830 (GRCm39) |
|
probably null |
Het |
| Ugt2b34 |
C |
A |
5: 87,054,383 (GRCm39) |
V133L |
probably benign |
Het |
| Yju2b |
A |
G |
8: 84,990,997 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in 2900026A02Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
oyster
|
UTSW |
5 |
113,330,833 (GRCm39) |
missense |
probably benign |
0.14 |
|
pimento
|
UTSW |
5 |
113,243,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1394:2900026A02Rik
|
UTSW |
5 |
113,249,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1395:2900026A02Rik
|
UTSW |
5 |
113,249,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4329:2900026A02Rik
|
UTSW |
5 |
113,243,455 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4766:2900026A02Rik
|
UTSW |
5 |
113,245,502 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6124:2900026A02Rik
|
UTSW |
5 |
113,331,622 (GRCm39) |
missense |
probably benign |
|
|
R6336:2900026A02Rik
|
UTSW |
5 |
113,331,349 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6365:2900026A02Rik
|
UTSW |
5 |
113,330,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6575:2900026A02Rik
|
UTSW |
5 |
113,330,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6759:2900026A02Rik
|
UTSW |
5 |
113,331,692 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7117:2900026A02Rik
|
UTSW |
5 |
113,339,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7168:2900026A02Rik
|
UTSW |
5 |
113,285,659 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7339:2900026A02Rik
|
UTSW |
5 |
113,330,938 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7450:2900026A02Rik
|
UTSW |
5 |
113,331,977 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7458:2900026A02Rik
|
UTSW |
5 |
113,338,510 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7525:2900026A02Rik
|
UTSW |
5 |
113,331,221 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7707:2900026A02Rik
|
UTSW |
5 |
113,285,852 (GRCm39) |
start codon destroyed |
probably benign |
0.14 |
|
R7848:2900026A02Rik
|
UTSW |
5 |
113,340,007 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7869:2900026A02Rik
|
UTSW |
5 |
113,332,001 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7871:2900026A02Rik
|
UTSW |
5 |
113,331,092 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8327:2900026A02Rik
|
UTSW |
5 |
113,331,685 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8411:2900026A02Rik
|
UTSW |
5 |
113,285,588 (GRCm39) |
missense |
probably benign |
|
|
R8429:2900026A02Rik
|
UTSW |
5 |
113,331,302 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8940:2900026A02Rik
|
UTSW |
5 |
113,241,068 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9065:2900026A02Rik
|
UTSW |
5 |
113,323,084 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9096:2900026A02Rik
|
UTSW |
5 |
113,339,793 (GRCm39) |
missense |
|
|
|
R9182:2900026A02Rik
|
UTSW |
5 |
113,243,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9191:2900026A02Rik
|
UTSW |
5 |
113,330,564 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9330:2900026A02Rik
|
UTSW |
5 |
113,330,833 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9336:2900026A02Rik
|
UTSW |
5 |
113,240,966 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9375:2900026A02Rik
|
UTSW |
5 |
113,332,567 (GRCm39) |
missense |
probably benign |
|
|
R9388:2900026A02Rik
|
UTSW |
5 |
113,338,714 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9483:2900026A02Rik
|
UTSW |
5 |
113,339,010 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9529:2900026A02Rik
|
UTSW |
5 |
113,331,682 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9675:2900026A02Rik
|
UTSW |
5 |
113,339,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9784:2900026A02Rik
|
UTSW |
5 |
113,338,527 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2015-12-18 |
Incidental Mutation