Incidental Mutation 'R0831:3425401B19Rik'
| ID |
77576 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
3425401B19Rik
|
| Ensembl Gene |
ENSMUSG00000071540 |
| Gene Name |
RIKEN cDNA 3425401B19 gene |
| Synonyms |
|
| MMRRC Submission |
039010-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R0831 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
32381076-32407250 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32384228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 579
(N579S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096038]
|
| AlphaFold |
D3Z1D3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096038
AA Change: N579S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000093741
Gene: ENSMUSG00000071540
AA Change: N579S
| 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: 99.6%
- 3x: 98.9%
- 10x: 96.9%
- 20x: 92.0%
|
| Validation Efficiency |
95% (82/86) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
C |
T |
7: 12,284,523 (GRCm39) |
|
probably benign |
Het |
| Adck1 |
G |
T |
12: 88,335,118 (GRCm39) |
M1I |
probably null |
Het |
| Adgra3 |
A |
T |
5: 50,128,144 (GRCm39) |
I779N |
probably damaging |
Het |
| Adgrf2 |
A |
G |
17: 43,021,334 (GRCm39) |
S497P |
probably damaging |
Het |
| Afg3l2 |
A |
C |
18: 67,554,297 (GRCm39) |
F468L |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,605,502 (GRCm39) |
I2384N |
probably benign |
Het |
| Ankrd13b |
A |
T |
11: 77,363,585 (GRCm39) |
S244R |
probably damaging |
Het |
| Aox1 |
T |
A |
1: 58,378,842 (GRCm39) |
H1030Q |
probably benign |
Het |
| Ap1b1 |
A |
G |
11: 4,973,092 (GRCm39) |
|
probably benign |
Het |
| Atxn2l |
A |
G |
7: 126,098,332 (GRCm39) |
S187P |
probably damaging |
Het |
| B4galt4 |
G |
T |
16: 38,588,341 (GRCm39) |
E57D |
probably benign |
Het |
| Cad |
T |
C |
5: 31,224,944 (GRCm39) |
V949A |
probably damaging |
Het |
| Cadps2 |
C |
T |
6: 23,321,739 (GRCm39) |
S1051N |
possibly damaging |
Het |
| Ccdc66 |
C |
T |
14: 27,219,313 (GRCm39) |
V148I |
probably benign |
Het |
| Ccser1 |
C |
T |
6: 61,400,045 (GRCm39) |
P55S |
probably damaging |
Het |
| Cds2 |
T |
C |
2: 132,127,887 (GRCm39) |
|
probably null |
Het |
| Cep95 |
A |
G |
11: 106,705,530 (GRCm39) |
D548G |
probably benign |
Het |
| Chil3 |
A |
G |
3: 106,057,063 (GRCm39) |
Y294H |
probably benign |
Het |
| Chmp5 |
A |
G |
4: 40,949,500 (GRCm39) |
D39G |
probably damaging |
Het |
| Chrd |
T |
A |
16: 20,560,059 (GRCm39) |
F887I |
probably damaging |
Het |
| Col24a1 |
G |
T |
3: 145,034,520 (GRCm39) |
G580V |
probably damaging |
Het |
| Col6a2 |
A |
T |
10: 76,439,939 (GRCm39) |
N655K |
probably damaging |
Het |
| Ctsf |
A |
T |
19: 4,909,868 (GRCm39) |
Y416F |
possibly damaging |
Het |
| Dennd5a |
A |
C |
7: 109,533,961 (GRCm39) |
V77G |
probably damaging |
Het |
| Dna2 |
A |
T |
10: 62,795,108 (GRCm39) |
K460* |
probably null |
Het |
| Dnah17 |
A |
T |
11: 117,951,097 (GRCm39) |
M2842K |
probably damaging |
Het |
| Dnajc13 |
C |
A |
9: 104,049,811 (GRCm39) |
G1765V |
probably damaging |
Het |
| Donson |
A |
C |
16: 91,480,651 (GRCm39) |
C243W |
probably damaging |
Het |
| Dpp8 |
A |
T |
9: 64,985,961 (GRCm39) |
N817I |
possibly damaging |
Het |
| Eef1d |
G |
A |
15: 75,768,655 (GRCm39) |
|
probably benign |
Het |
| Esf1 |
T |
A |
2: 140,010,279 (GRCm39) |
D19V |
probably damaging |
Het |
| Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
| Gm21738 |
T |
C |
14: 19,415,963 (GRCm38) |
K192R |
probably benign |
Het |
| Gm9867 |
C |
A |
4: 140,049,799 (GRCm39) |
A128S |
unknown |
Het |
| Igsf23 |
G |
T |
7: 19,675,662 (GRCm39) |
|
probably benign |
Het |
| Inhca |
T |
C |
9: 103,146,978 (GRCm39) |
H292R |
possibly damaging |
Het |
| Kdm7a |
C |
A |
6: 39,143,699 (GRCm39) |
|
probably benign |
Het |
| Kif14 |
G |
A |
1: 136,453,609 (GRCm39) |
|
probably benign |
Het |
| Mroh7 |
T |
C |
4: 106,537,990 (GRCm39) |
N1229D |
possibly damaging |
Het |
| Mrps11 |
C |
A |
7: 78,441,611 (GRCm39) |
|
probably benign |
Het |
| Mtmr2 |
T |
A |
9: 13,707,409 (GRCm39) |
D248E |
probably damaging |
Het |
| Myrfl |
C |
A |
10: 116,619,114 (GRCm39) |
S748I |
probably benign |
Het |
| Nop14 |
T |
C |
5: 34,807,864 (GRCm39) |
E366G |
possibly damaging |
Het |
| Or13c3 |
T |
G |
4: 52,855,764 (GRCm39) |
I250L |
possibly damaging |
Het |
| Or2w25 |
C |
T |
11: 59,504,480 (GRCm39) |
T230I |
possibly damaging |
Het |
| Or52z13 |
A |
G |
7: 103,247,338 (GRCm39) |
I272V |
probably benign |
Het |
| Or7e177 |
T |
A |
9: 20,211,861 (GRCm39) |
C123S |
probably benign |
Het |
| Or8g2b |
C |
T |
9: 39,751,579 (GRCm39) |
P283L |
probably damaging |
Het |
| Phykpl |
G |
T |
11: 51,476,366 (GRCm39) |
E29* |
probably null |
Het |
| Plppr4 |
A |
G |
3: 117,125,295 (GRCm39) |
|
probably null |
Het |
| Prmt2 |
A |
C |
10: 76,043,641 (GRCm39) |
|
probably benign |
Het |
| Prodh2 |
T |
A |
7: 30,193,649 (GRCm39) |
Y114* |
probably null |
Het |
| Prr23a2 |
C |
A |
9: 98,738,917 (GRCm39) |
H92N |
probably damaging |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Rdx |
C |
A |
9: 51,977,117 (GRCm39) |
A122E |
probably damaging |
Het |
| Rspo3 |
T |
G |
10: 29,330,253 (GRCm39) |
D236A |
unknown |
Het |
| Sdk2 |
A |
T |
11: 113,723,084 (GRCm39) |
D1302E |
probably damaging |
Het |
| Sipa1 |
A |
T |
19: 5,710,382 (GRCm39) |
D209E |
probably damaging |
Het |
| Sirpa |
T |
G |
2: 129,469,856 (GRCm39) |
|
probably benign |
Het |
| Ska1 |
A |
C |
18: 74,330,570 (GRCm39) |
|
probably benign |
Het |
| Slc4a9 |
T |
C |
18: 36,668,331 (GRCm39) |
|
probably benign |
Het |
| Slco1b2 |
T |
C |
6: 141,631,172 (GRCm39) |
V602A |
probably benign |
Het |
| Slco2a1 |
T |
C |
9: 102,959,533 (GRCm39) |
V543A |
probably damaging |
Het |
| Sorcs3 |
A |
T |
19: 48,682,433 (GRCm39) |
L489F |
probably damaging |
Het |
| Sorl1 |
T |
C |
9: 41,982,365 (GRCm39) |
|
probably benign |
Het |
| Sp140l1 |
C |
G |
1: 85,077,226 (GRCm39) |
K113N |
probably benign |
Het |
| Spindoc |
G |
T |
19: 7,352,100 (GRCm39) |
N82K |
probably benign |
Het |
| Stk17b |
C |
A |
1: 53,796,651 (GRCm39) |
C372F |
probably damaging |
Het |
| Tbck |
A |
G |
3: 132,428,052 (GRCm39) |
|
probably benign |
Het |
| Thoc1 |
C |
T |
18: 9,963,267 (GRCm39) |
T127I |
probably benign |
Het |
| Togaram2 |
G |
T |
17: 72,023,439 (GRCm39) |
R765L |
probably damaging |
Het |
| Tprg1 |
A |
G |
16: 25,136,219 (GRCm39) |
Y70C |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,215,325 (GRCm39) |
Y1050H |
probably damaging |
Het |
| Vmn1r205 |
T |
A |
13: 22,776,586 (GRCm39) |
D172V |
probably benign |
Het |
| Vmn1r79 |
A |
T |
7: 11,910,990 (GRCm39) |
N291Y |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,833,980 (GRCm39) |
N549K |
probably damaging |
Het |
| Vrk3 |
T |
A |
7: 44,414,227 (GRCm39) |
L241Q |
probably damaging |
Het |
| Zc3h7a |
A |
G |
16: 10,969,744 (GRCm39) |
S386P |
probably damaging |
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 |
|
R0551:3425401B19Rik
|
UTSW |
14 |
32,384,598 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0759:3425401B19Rik
|
UTSW |
14 |
32,384,454 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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'- GTCGCTGTAAAACACATCCTCCTCC -3'
(R):5'- CCCAGCCTGCTGTTCAACCTAAAAG -3'
Sequencing Primer
(F):5'- TTCAGACTCCCTGTTGAAGAG -3'
(R):5'- CCTAAAAGATGTTCGGAAACGTGTC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation