Incidental Mutation 'R1394:2900026A02Rik'
ID |
162737 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
2900026A02Rik
|
Ensembl Gene |
ENSMUSG00000051339 |
Gene Name |
RIKEN cDNA 2900026A02 gene |
Synonyms |
LOC231620, Gm449 |
MMRRC Submission |
039456-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.095)
|
Stock # |
R1394 (G1)
|
Quality Score |
135 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
113234189-113369102 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 113249362 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 122
(Y122H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148442
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050125]
[ENSMUST00000211733]
[ENSMUST00000212276]
|
AlphaFold |
Q8BRV5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050125
AA Change: Y45H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058789 Gene: ENSMUSG00000051339 AA Change: Y45H
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: Y1504H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212276
AA Change: Y122H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.1231 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd27 |
T |
C |
7: 35,315,294 (GRCm39) |
F481S |
possibly damaging |
Het |
Casd1 |
T |
G |
6: 4,624,117 (GRCm39) |
C303W |
probably damaging |
Het |
Cep128 |
C |
T |
12: 91,233,754 (GRCm39) |
R438Q |
probably benign |
Het |
Cep192 |
A |
G |
18: 67,991,992 (GRCm39) |
T1957A |
probably damaging |
Het |
Cep290 |
T |
C |
10: 100,373,391 (GRCm39) |
S1224P |
possibly damaging |
Het |
Col5a2 |
A |
G |
1: 45,442,579 (GRCm39) |
|
probably null |
Het |
Cwc22 |
G |
A |
2: 77,759,823 (GRCm39) |
R75C |
possibly damaging |
Het |
Cyp4a30b |
A |
T |
4: 115,328,089 (GRCm39) |
|
probably null |
Het |
Dnah11 |
T |
C |
12: 117,936,099 (GRCm39) |
D3298G |
possibly damaging |
Het |
Drc3 |
T |
C |
11: 60,284,545 (GRCm39) |
I450T |
possibly damaging |
Het |
Dst |
T |
C |
1: 34,204,236 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Emilin2 |
G |
T |
17: 71,560,066 (GRCm39) |
D970E |
possibly damaging |
Het |
Fcgbp |
A |
G |
7: 27,792,804 (GRCm39) |
H936R |
probably damaging |
Het |
Fkbp15 |
T |
A |
4: 62,246,109 (GRCm39) |
M440L |
probably benign |
Het |
Fryl |
T |
C |
5: 73,230,255 (GRCm39) |
H1634R |
probably damaging |
Het |
Gm44511 |
G |
A |
6: 128,797,293 (GRCm39) |
S32L |
possibly damaging |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Ift81 |
G |
T |
5: 122,706,986 (GRCm39) |
D485E |
probably benign |
Het |
Ipp |
T |
A |
4: 116,395,109 (GRCm39) |
L548* |
probably null |
Het |
Itm2a |
C |
T |
X: 106,441,807 (GRCm39) |
V200I |
possibly damaging |
Het |
Kank1 |
A |
G |
19: 25,405,528 (GRCm39) |
N1182S |
probably damaging |
Het |
Mkks |
C |
T |
2: 136,722,882 (GRCm39) |
G92S |
probably damaging |
Het |
Mybbp1a |
C |
T |
11: 72,334,474 (GRCm39) |
P243L |
probably damaging |
Het |
Myo1f |
A |
G |
17: 33,802,714 (GRCm39) |
D386G |
probably damaging |
Het |
Obsl1 |
T |
C |
1: 75,469,309 (GRCm39) |
S109G |
probably damaging |
Het |
Or6z6 |
T |
A |
7: 6,491,361 (GRCm39) |
T171S |
probably damaging |
Het |
Or9s13 |
T |
A |
1: 92,548,267 (GRCm39) |
I213N |
probably benign |
Het |
Pcdh12 |
A |
G |
18: 38,414,242 (GRCm39) |
|
probably null |
Het |
Phlpp1 |
T |
C |
1: 106,278,348 (GRCm39) |
V920A |
possibly damaging |
Het |
Phlpp2 |
T |
A |
8: 110,603,662 (GRCm39) |
C109* |
probably null |
Het |
Prickle2 |
T |
A |
6: 92,353,363 (GRCm39) |
H701L |
possibly damaging |
Het |
Psen1 |
G |
A |
12: 83,771,346 (GRCm39) |
G209R |
probably damaging |
Het |
Psg19 |
T |
C |
7: 18,530,983 (GRCm39) |
N57S |
probably damaging |
Het |
Rdh12 |
A |
G |
12: 79,255,839 (GRCm39) |
T9A |
probably benign |
Het |
Rgma |
G |
T |
7: 73,067,542 (GRCm39) |
A360S |
probably benign |
Het |
Scyl2 |
T |
A |
10: 89,476,827 (GRCm39) |
K766M |
possibly damaging |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Spata31e5 |
T |
C |
1: 28,815,890 (GRCm39) |
E714G |
possibly damaging |
Het |
Spata46 |
A |
G |
1: 170,139,573 (GRCm39) |
T191A |
probably benign |
Het |
Spin1 |
T |
C |
13: 51,298,517 (GRCm39) |
Y179H |
probably damaging |
Het |
Tecpr1 |
T |
C |
5: 144,143,357 (GRCm39) |
T673A |
possibly damaging |
Het |
Tenm3 |
T |
A |
8: 48,729,435 (GRCm39) |
M1508L |
probably benign |
Het |
Vasn |
C |
T |
16: 4,467,576 (GRCm39) |
R508* |
probably null |
Het |
Vmn2r15 |
T |
A |
5: 109,442,014 (GRCm39) |
I140L |
probably benign |
Het |
Wdr44 |
T |
G |
X: 23,662,298 (GRCm39) |
C645G |
probably damaging |
Het |
Zfand1 |
G |
T |
3: 10,411,269 (GRCm39) |
T62K |
probably benign |
Het |
Zfy1 |
C |
T |
Y: 725,957 (GRCm39) |
V603I |
possibly damaging |
Het |
|
Other mutations in 2900026A02Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02810:2900026A02Rik
|
APN |
5 |
113,249,401 (GRCm39) |
missense |
probably damaging |
1.00 |
oyster
|
UTSW |
5 |
113,330,833 (GRCm39) |
missense |
probably benign |
0.14 |
pimento
|
UTSW |
5 |
113,243,473 (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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGACTGTCCAGACTGCTTGCC -3'
(R):5'- TCTCCTTTGCGCTAACATGGGAAG -3'
Sequencing Primer
(F):5'- caaggcaggggaagcaag -3'
(R):5'- CTAACATGGGAAGCAGCGG -3'
|
Posted On |
2014-03-17 |