Incidental Mutation 'R0551:3425401B19Rik'
ID |
45192 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
3425401B19Rik
|
Ensembl Gene |
ENSMUSG00000071540 |
Gene Name |
RIKEN cDNA 3425401B19 gene |
Synonyms |
|
MMRRC Submission |
038743-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R0551 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
32381076-32407250 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32384598 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 456
(T456S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093741
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096038]
|
AlphaFold |
D3Z1D3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096038
AA Change: T456S
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000093741 Gene: ENSMUSG00000071540 AA Change: T456S
Domain | Start | End | E-Value | Type |
low complexity region
|
135 |
145 |
N/A |
INTRINSIC |
low complexity region
|
162 |
175 |
N/A |
INTRINSIC |
low complexity region
|
386 |
399 |
N/A |
INTRINSIC |
low complexity region
|
587 |
602 |
N/A |
INTRINSIC |
low complexity region
|
605 |
624 |
N/A |
INTRINSIC |
low complexity region
|
728 |
744 |
N/A |
INTRINSIC |
low complexity region
|
1002 |
1015 |
N/A |
INTRINSIC |
low complexity region
|
1086 |
1097 |
N/A |
INTRINSIC |
low complexity region
|
1147 |
1158 |
N/A |
INTRINSIC |
low complexity region
|
1161 |
1176 |
N/A |
INTRINSIC |
Pfam:DUF4585
|
1251 |
1322 |
6.5e-30 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
99% (77/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acmsd |
A |
T |
1: 127,694,070 (GRCm39) |
K333N |
probably benign |
Het |
Adcy2 |
T |
A |
13: 68,944,658 (GRCm39) |
K241N |
probably damaging |
Het |
Aebp1 |
A |
G |
11: 5,817,955 (GRCm39) |
I77V |
probably benign |
Het |
Albfm1 |
C |
T |
5: 90,720,578 (GRCm39) |
P250S |
probably damaging |
Het |
Ankrd35 |
A |
G |
3: 96,591,276 (GRCm39) |
T521A |
probably benign |
Het |
Arap2 |
C |
T |
5: 62,798,666 (GRCm39) |
|
probably null |
Het |
Arfgap3 |
A |
T |
15: 83,227,338 (GRCm39) |
C25S |
probably damaging |
Het |
Arhgap20 |
T |
A |
9: 51,737,125 (GRCm39) |
|
probably benign |
Het |
Arhgap39 |
C |
T |
15: 76,619,086 (GRCm39) |
D833N |
probably damaging |
Het |
Auts2 |
T |
C |
5: 131,469,307 (GRCm39) |
E446G |
possibly damaging |
Het |
Brwd1 |
C |
T |
16: 95,837,174 (GRCm39) |
R886H |
probably damaging |
Het |
Carm1 |
G |
A |
9: 21,491,787 (GRCm39) |
|
probably null |
Het |
Cdc5l |
G |
A |
17: 45,726,610 (GRCm39) |
R321W |
probably damaging |
Het |
Cfap54 |
A |
T |
10: 92,860,984 (GRCm39) |
M841K |
probably benign |
Het |
Clca4b |
T |
A |
3: 144,634,387 (GRCm39) |
T69S |
probably damaging |
Het |
Cpox |
A |
G |
16: 58,495,753 (GRCm39) |
I357V |
probably benign |
Het |
Diaph3 |
C |
A |
14: 87,147,536 (GRCm39) |
V711L |
probably benign |
Het |
Fabp3-ps1 |
T |
C |
10: 86,567,904 (GRCm39) |
|
probably benign |
Het |
Fam120b |
A |
T |
17: 15,651,905 (GRCm39) |
|
probably benign |
Het |
Fcho1 |
A |
G |
8: 72,164,818 (GRCm39) |
S488P |
probably benign |
Het |
Flcn |
A |
G |
11: 59,686,574 (GRCm39) |
|
probably null |
Het |
Flt3l |
A |
G |
7: 44,781,690 (GRCm39) |
W234R |
probably damaging |
Het |
Fzd7 |
G |
T |
1: 59,522,443 (GRCm39) |
V109L |
probably damaging |
Het |
G3bp1 |
A |
G |
11: 55,379,969 (GRCm39) |
N101S |
probably benign |
Het |
Gadd45g |
A |
G |
13: 52,001,963 (GRCm39) |
E143G |
probably damaging |
Het |
Ganab |
T |
G |
19: 8,884,644 (GRCm39) |
I149S |
probably benign |
Het |
Garnl3 |
A |
G |
2: 32,906,750 (GRCm39) |
S413P |
probably damaging |
Het |
Glis1 |
C |
T |
4: 107,425,316 (GRCm39) |
|
probably null |
Het |
Gm11563 |
A |
G |
11: 99,549,539 (GRCm39) |
S72P |
unknown |
Het |
Gpd1 |
T |
G |
15: 99,618,510 (GRCm39) |
I188S |
possibly damaging |
Het |
Gria2 |
A |
G |
3: 80,639,333 (GRCm39) |
|
probably benign |
Het |
Hpcal4 |
G |
T |
4: 123,082,848 (GRCm39) |
A65S |
possibly damaging |
Het |
Igsf10 |
G |
A |
3: 59,236,089 (GRCm39) |
T1364I |
probably benign |
Het |
Kdm4a |
T |
C |
4: 117,995,428 (GRCm39) |
*1065W |
probably null |
Het |
Klkb1 |
A |
G |
8: 45,731,003 (GRCm39) |
|
probably null |
Het |
Lipo3 |
T |
C |
19: 33,557,951 (GRCm39) |
D147G |
probably damaging |
Het |
Lrp1 |
A |
G |
10: 127,407,827 (GRCm39) |
S1821P |
probably benign |
Het |
Macroh2a2 |
A |
G |
10: 61,576,945 (GRCm39) |
S308P |
probably damaging |
Het |
Manba |
T |
C |
3: 135,223,734 (GRCm39) |
I207T |
probably damaging |
Het |
Mark3 |
T |
A |
12: 111,600,068 (GRCm39) |
S428T |
probably benign |
Het |
Mfsd4a |
G |
A |
1: 131,969,657 (GRCm39) |
T348I |
probably damaging |
Het |
Mybbp1a |
A |
G |
11: 72,339,202 (GRCm39) |
M880V |
probably benign |
Het |
N4bp2 |
T |
A |
5: 65,977,684 (GRCm39) |
|
probably null |
Het |
Nrdc |
T |
G |
4: 108,904,905 (GRCm39) |
I712S |
probably damaging |
Het |
Nup210 |
G |
A |
6: 90,998,466 (GRCm39) |
R774C |
possibly damaging |
Het |
Obscn |
G |
A |
11: 58,998,688 (GRCm39) |
R1395* |
probably null |
Het |
Or5b102 |
T |
A |
19: 13,041,658 (GRCm39) |
D294E |
probably benign |
Het |
Pcdh7 |
T |
C |
5: 57,879,336 (GRCm39) |
Y964H |
probably damaging |
Het |
Pgap6 |
C |
A |
17: 26,339,576 (GRCm39) |
Q605K |
probably damaging |
Het |
Plin4 |
T |
C |
17: 56,413,756 (GRCm39) |
T290A |
probably benign |
Het |
Ppara |
T |
C |
15: 85,671,306 (GRCm39) |
|
probably benign |
Het |
Psg21 |
T |
G |
7: 18,386,565 (GRCm39) |
|
probably null |
Het |
Ptar1 |
C |
A |
19: 23,697,704 (GRCm39) |
N405K |
probably benign |
Het |
Ralgps2 |
A |
G |
1: 156,660,233 (GRCm39) |
|
probably null |
Het |
Rnf6 |
T |
A |
5: 146,148,205 (GRCm39) |
N271I |
possibly damaging |
Het |
Sis |
T |
C |
3: 72,832,740 (GRCm39) |
D1019G |
possibly damaging |
Het |
Slc37a3 |
A |
G |
6: 39,329,688 (GRCm39) |
|
probably benign |
Het |
Slc49a3 |
A |
G |
5: 108,592,331 (GRCm39) |
|
probably benign |
Het |
Slc6a12 |
G |
A |
6: 121,333,877 (GRCm39) |
V238I |
probably damaging |
Het |
Sntg1 |
C |
A |
1: 8,624,960 (GRCm39) |
V279L |
possibly damaging |
Het |
Sorbs1 |
T |
A |
19: 40,300,260 (GRCm39) |
E567D |
probably damaging |
Het |
Sp110 |
C |
A |
1: 85,516,821 (GRCm39) |
|
probably benign |
Het |
Ssu2 |
A |
G |
6: 112,357,515 (GRCm39) |
V175A |
possibly damaging |
Het |
Stk36 |
G |
A |
1: 74,655,780 (GRCm39) |
E428K |
probably benign |
Het |
Teddm1b |
A |
T |
1: 153,751,090 (GRCm39) |
I300F |
possibly damaging |
Het |
Thy1 |
T |
C |
9: 43,958,645 (GRCm39) |
V129A |
probably damaging |
Het |
Tiam2 |
T |
A |
17: 3,479,229 (GRCm39) |
M654K |
probably damaging |
Het |
Tmem69 |
T |
C |
4: 116,410,470 (GRCm39) |
S167G |
probably benign |
Het |
Tmem81 |
C |
G |
1: 132,435,567 (GRCm39) |
I124M |
probably damaging |
Het |
Tspan10 |
A |
G |
11: 120,335,244 (GRCm39) |
D118G |
probably damaging |
Het |
Tspo2 |
A |
G |
17: 48,755,841 (GRCm39) |
|
probably benign |
Het |
Ttn |
G |
A |
2: 76,738,672 (GRCm39) |
Q4002* |
probably null |
Het |
Tyro3 |
G |
A |
2: 119,647,385 (GRCm39) |
R834Q |
probably damaging |
Het |
Ugt2b1 |
T |
C |
5: 87,073,943 (GRCm39) |
K139E |
probably benign |
Het |
Vmn1r9 |
A |
T |
6: 57,048,524 (GRCm39) |
I200F |
probably benign |
Het |
|
Other mutations in 3425401B19Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00839:3425401B19Rik
|
APN |
14 |
32,382,873 (GRCm39) |
missense |
probably benign |
0.18 |
IGL00844:3425401B19Rik
|
APN |
14 |
32,384,956 (GRCm39) |
nonsense |
probably null |
|
IGL01292:3425401B19Rik
|
APN |
14 |
32,382,831 (GRCm39) |
missense |
probably benign |
0.18 |
IGL01295:3425401B19Rik
|
APN |
14 |
32,383,893 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL01457:3425401B19Rik
|
APN |
14 |
32,382,908 (GRCm39) |
missense |
probably benign |
|
IGL01470:3425401B19Rik
|
APN |
14 |
32,382,414 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL01612:3425401B19Rik
|
APN |
14 |
32,381,988 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL01974:3425401B19Rik
|
APN |
14 |
32,381,762 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02095:3425401B19Rik
|
APN |
14 |
32,383,583 (GRCm39) |
missense |
probably benign |
0.33 |
IGL02138:3425401B19Rik
|
APN |
14 |
32,384,672 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02178:3425401B19Rik
|
APN |
14 |
32,384,418 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02245:3425401B19Rik
|
APN |
14 |
32,381,772 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02529:3425401B19Rik
|
APN |
14 |
32,383,190 (GRCm39) |
missense |
probably benign |
|
IGL03401:3425401B19Rik
|
APN |
14 |
32,384,223 (GRCm39) |
nonsense |
probably null |
|
PIT4515001:3425401B19Rik
|
UTSW |
14 |
32,383,068 (GRCm39) |
nonsense |
probably null |
|
R0233:3425401B19Rik
|
UTSW |
14 |
32,385,330 (GRCm39) |
missense |
probably benign |
|
R0233:3425401B19Rik
|
UTSW |
14 |
32,385,330 (GRCm39) |
missense |
probably benign |
|
R0320:3425401B19Rik
|
UTSW |
14 |
32,384,571 (GRCm39) |
missense |
probably benign |
0.19 |
R0519:3425401B19Rik
|
UTSW |
14 |
32,384,919 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0759:3425401B19Rik
|
UTSW |
14 |
32,384,454 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0831:3425401B19Rik
|
UTSW |
14 |
32,384,228 (GRCm39) |
missense |
probably benign |
0.01 |
R1124:3425401B19Rik
|
UTSW |
14 |
32,384,039 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1346:3425401B19Rik
|
UTSW |
14 |
32,382,771 (GRCm39) |
missense |
probably benign |
0.07 |
R1997:3425401B19Rik
|
UTSW |
14 |
32,382,005 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2055:3425401B19Rik
|
UTSW |
14 |
32,384,508 (GRCm39) |
missense |
probably benign |
|
R2212:3425401B19Rik
|
UTSW |
14 |
32,383,559 (GRCm39) |
missense |
probably benign |
0.33 |
R2416:3425401B19Rik
|
UTSW |
14 |
32,385,791 (GRCm39) |
missense |
probably benign |
0.04 |
R2441:3425401B19Rik
|
UTSW |
14 |
32,385,449 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2513:3425401B19Rik
|
UTSW |
14 |
32,383,809 (GRCm39) |
missense |
possibly damaging |
0.53 |
R3414:3425401B19Rik
|
UTSW |
14 |
32,383,559 (GRCm39) |
missense |
probably benign |
0.33 |
R3800:3425401B19Rik
|
UTSW |
14 |
32,385,025 (GRCm39) |
missense |
possibly damaging |
0.83 |
R3809:3425401B19Rik
|
UTSW |
14 |
32,385,650 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4166:3425401B19Rik
|
UTSW |
14 |
32,382,912 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4581:3425401B19Rik
|
UTSW |
14 |
32,383,828 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4721:3425401B19Rik
|
UTSW |
14 |
32,385,107 (GRCm39) |
missense |
probably benign |
0.01 |
R4769:3425401B19Rik
|
UTSW |
14 |
32,382,174 (GRCm39) |
missense |
probably benign |
0.32 |
R4809:3425401B19Rik
|
UTSW |
14 |
32,384,588 (GRCm39) |
missense |
probably benign |
0.19 |
R4919:3425401B19Rik
|
UTSW |
14 |
32,385,245 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4925:3425401B19Rik
|
UTSW |
14 |
32,385,137 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4972:3425401B19Rik
|
UTSW |
14 |
32,383,361 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5068:3425401B19Rik
|
UTSW |
14 |
32,383,749 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5069:3425401B19Rik
|
UTSW |
14 |
32,383,749 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5070:3425401B19Rik
|
UTSW |
14 |
32,383,749 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5258:3425401B19Rik
|
UTSW |
14 |
32,385,266 (GRCm39) |
missense |
probably damaging |
0.98 |
R5435:3425401B19Rik
|
UTSW |
14 |
32,383,413 (GRCm39) |
missense |
probably benign |
0.18 |
R5549:3425401B19Rik
|
UTSW |
14 |
32,384,993 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5678:3425401B19Rik
|
UTSW |
14 |
32,384,010 (GRCm39) |
missense |
probably damaging |
0.97 |
R5680:3425401B19Rik
|
UTSW |
14 |
32,384,010 (GRCm39) |
missense |
probably damaging |
0.97 |
R5872:3425401B19Rik
|
UTSW |
14 |
32,382,309 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5896:3425401B19Rik
|
UTSW |
14 |
32,383,632 (GRCm39) |
nonsense |
probably null |
|
R5940:3425401B19Rik
|
UTSW |
14 |
32,384,645 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6044:3425401B19Rik
|
UTSW |
14 |
32,382,614 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6136:3425401B19Rik
|
UTSW |
14 |
32,384,239 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6277:3425401B19Rik
|
UTSW |
14 |
32,385,651 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6385:3425401B19Rik
|
UTSW |
14 |
32,383,236 (GRCm39) |
missense |
probably benign |
0.01 |
R6728:3425401B19Rik
|
UTSW |
14 |
32,384,645 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6984:3425401B19Rik
|
UTSW |
14 |
32,383,937 (GRCm39) |
missense |
probably benign |
0.00 |
R7047:3425401B19Rik
|
UTSW |
14 |
32,382,131 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7249:3425401B19Rik
|
UTSW |
14 |
32,385,271 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7493:3425401B19Rik
|
UTSW |
14 |
32,385,257 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7575:3425401B19Rik
|
UTSW |
14 |
32,384,589 (GRCm39) |
missense |
probably benign |
0.03 |
R7742:3425401B19Rik
|
UTSW |
14 |
32,384,714 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7747:3425401B19Rik
|
UTSW |
14 |
32,385,026 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7784:3425401B19Rik
|
UTSW |
14 |
32,381,797 (GRCm39) |
missense |
probably benign |
0.00 |
R8098:3425401B19Rik
|
UTSW |
14 |
32,384,618 (GRCm39) |
missense |
probably damaging |
0.99 |
R8111:3425401B19Rik
|
UTSW |
14 |
32,382,266 (GRCm39) |
nonsense |
probably null |
|
R8171:3425401B19Rik
|
UTSW |
14 |
32,383,982 (GRCm39) |
missense |
probably benign |
|
R8276:3425401B19Rik
|
UTSW |
14 |
32,385,885 (GRCm39) |
missense |
probably damaging |
0.97 |
R8330:3425401B19Rik
|
UTSW |
14 |
32,381,750 (GRCm39) |
missense |
probably damaging |
0.98 |
R8422:3425401B19Rik
|
UTSW |
14 |
32,384,254 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8464:3425401B19Rik
|
UTSW |
14 |
32,381,934 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8880:3425401B19Rik
|
UTSW |
14 |
32,382,837 (GRCm39) |
missense |
probably benign |
0.33 |
R8898:3425401B19Rik
|
UTSW |
14 |
32,383,001 (GRCm39) |
nonsense |
probably null |
|
R8911:3425401B19Rik
|
UTSW |
14 |
32,383,626 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8934:3425401B19Rik
|
UTSW |
14 |
32,382,614 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9094:3425401B19Rik
|
UTSW |
14 |
32,382,614 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9399:3425401B19Rik
|
UTSW |
14 |
32,384,615 (GRCm39) |
missense |
probably damaging |
0.98 |
R9435:3425401B19Rik
|
UTSW |
14 |
32,382,562 (GRCm39) |
missense |
probably benign |
0.08 |
R9485:3425401B19Rik
|
UTSW |
14 |
32,383,400 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9766:3425401B19Rik
|
UTSW |
14 |
32,385,788 (GRCm39) |
missense |
probably benign |
0.00 |
X0025:3425401B19Rik
|
UTSW |
14 |
32,384,426 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:3425401B19Rik
|
UTSW |
14 |
32,383,355 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:3425401B19Rik
|
UTSW |
14 |
32,381,765 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTCAGAGGTTCTTGCTTGCTATC -3'
(R):5'- TGCTTTGGAAGACAAGAAACAGCCC -3'
Sequencing Primer
(F):5'- GTACTCTTGACACGTTTCCGAAC -3'
(R):5'- GCCCAATAGGAGAGGTCTACC -3'
|
Posted On |
2013-06-11 |