Incidental Mutation 'R9675:2900026A02Rik'
| ID |
728297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2900026A02Rik
|
| Ensembl Gene |
ENSMUSG00000051339 |
| Gene Name |
RIKEN cDNA 2900026A02 gene |
| Synonyms |
LOC231620, Gm449 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R9675 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
113234189-113369102 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 113339827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 62
(P62T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147419
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000211733]
|
| AlphaFold |
Q8BRV5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211733
AA Change: P62T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
C |
T |
3: 59,784,538 (GRCm39) |
T337I |
probably damaging |
Het |
| Abtb2 |
T |
C |
2: 103,538,532 (GRCm39) |
F654L |
probably benign |
Het |
| Acta2 |
A |
T |
19: 34,223,612 (GRCm39) |
V161E |
|
Het |
| Adamtsl1 |
A |
C |
4: 86,161,989 (GRCm39) |
Y374S |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,449,247 (GRCm39) |
K2048E |
probably damaging |
Het |
| Arhgef4 |
C |
A |
1: 34,845,108 (GRCm39) |
D66E |
probably benign |
Het |
| Arsj |
T |
A |
3: 126,231,765 (GRCm39) |
H170Q |
probably damaging |
Het |
| Bmpr1b |
T |
C |
3: 141,563,321 (GRCm39) |
K208E |
probably benign |
Het |
| Brd4 |
A |
T |
17: 32,433,786 (GRCm39) |
M459K |
unknown |
Het |
| Btnl10 |
T |
A |
11: 58,814,442 (GRCm39) |
L374Q |
probably damaging |
Het |
| Cadm1 |
C |
T |
9: 47,441,752 (GRCm39) |
R28W |
probably damaging |
Het |
| Cts7 |
A |
T |
13: 61,504,371 (GRCm39) |
M64K |
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,712,652 (GRCm39) |
L1552P |
probably damaging |
Het |
| Dnaaf6rt |
G |
A |
1: 31,262,644 (GRCm39) |
V209I |
probably benign |
Het |
| Dock4 |
TGTGCCGGTGCCGGTGCCGGTGCCGGTGCC |
TGTGCCGGTGCCGGTGCCGGTGCCGGTGCCGGTGCC |
12: 40,894,379 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
TGCCGG |
TGCCGGAGCCGG |
12: 40,894,393 (GRCm39) |
|
probably benign |
Het |
| Dusp4 |
G |
A |
8: 35,274,964 (GRCm39) |
G28S |
probably benign |
Het |
| Fez2 |
A |
G |
17: 78,686,169 (GRCm39) |
C373R |
possibly damaging |
Het |
| Fibin |
T |
C |
2: 110,192,495 (GRCm39) |
T216A |
probably benign |
Het |
| Gad1 |
G |
A |
2: 70,416,200 (GRCm39) |
V220M |
probably damaging |
Het |
| Hsd17b13 |
A |
G |
5: 104,111,709 (GRCm39) |
L278S |
probably benign |
Het |
| Hyal5 |
G |
T |
6: 24,876,635 (GRCm39) |
E169D |
probably benign |
Het |
| Ighv1-15 |
A |
T |
12: 114,620,981 (GRCm39) |
C115S |
probably damaging |
Het |
| Msl2 |
T |
C |
9: 100,978,555 (GRCm39) |
S310P |
probably benign |
Het |
| Mss51 |
A |
G |
14: 20,537,189 (GRCm39) |
M93T |
probably damaging |
Het |
| Npas2 |
T |
C |
1: 39,364,446 (GRCm39) |
F263L |
probably damaging |
Het |
| Ogfod2 |
T |
C |
5: 124,252,452 (GRCm39) |
V177A |
probably damaging |
Het |
| Or1s2 |
T |
G |
19: 13,758,639 (GRCm39) |
V219G |
possibly damaging |
Het |
| Or9a4 |
A |
G |
6: 40,548,559 (GRCm39) |
M80V |
possibly damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pkd2l1 |
G |
T |
19: 44,137,696 (GRCm39) |
Q713K |
probably benign |
Het |
| Rasgrp1 |
T |
A |
2: 117,173,190 (GRCm39) |
M1L |
probably benign |
Het |
| Rnf167 |
T |
A |
11: 70,541,032 (GRCm39) |
H219Q |
possibly damaging |
Het |
| Spatc1 |
T |
A |
15: 76,152,520 (GRCm39) |
I50N |
probably damaging |
Het |
| Tcf20 |
T |
C |
15: 82,740,986 (GRCm39) |
Y155C |
probably damaging |
Het |
| Tfpt |
T |
A |
7: 3,623,981 (GRCm39) |
D142V |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,087,089 (GRCm39) |
V189A |
probably benign |
Het |
| Ttbk2 |
T |
G |
2: 120,637,241 (GRCm39) |
Q141H |
probably benign |
Het |
| Zbtb21 |
A |
G |
16: 97,752,945 (GRCm39) |
V474A |
probably 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 |
|
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 |
|
R9784:2900026A02Rik
|
UTSW |
5 |
113,338,527 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAGATCTCAGGAATGTGG -3'
(R):5'- AAGTTGGCTCCATCGCATCC -3'
Sequencing Primer
(F):5'- CTTTGTTAGGTACAGAAGGGCAATTC -3'
(R):5'- TCCATCGCATCCCTGAGG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation