Incidental Mutation 'R4972:3425401B19Rik'
| ID |
384548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
3425401B19Rik
|
| Ensembl Gene |
ENSMUSG00000071540 |
| Gene Name |
RIKEN cDNA 3425401B19 gene |
| Synonyms |
|
| MMRRC Submission |
042567-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R4972 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
32381076-32407250 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32383361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 868
(I868N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096038]
|
| AlphaFold |
D3Z1D3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096038
AA Change: I868N
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000093741
Gene: ENSMUSG00000071540
AA Change: I868N
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.2%
|
| Validation Efficiency |
93% (82/88) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730013G03Rik |
C |
G |
1: 192,516,081 (GRCm39) |
|
noncoding transcript |
Het |
| Actl11 |
A |
G |
9: 107,807,155 (GRCm39) |
T493A |
probably benign |
Het |
| Actn1 |
T |
C |
12: 80,219,813 (GRCm39) |
D686G |
probably benign |
Het |
| Adamts1 |
G |
A |
16: 85,592,833 (GRCm39) |
T525I |
probably damaging |
Het |
| Adcy10 |
T |
A |
1: 165,384,431 (GRCm39) |
L1064H |
probably damaging |
Het |
| AI661453 |
A |
T |
17: 47,777,324 (GRCm39) |
|
probably benign |
Het |
| Apba1 |
T |
A |
19: 23,889,900 (GRCm39) |
S433T |
probably benign |
Het |
| Arid4b |
T |
A |
13: 14,334,857 (GRCm39) |
N355K |
probably benign |
Het |
| Bsn |
A |
T |
9: 107,992,377 (GRCm39) |
M1125K |
probably damaging |
Het |
| C2cd5 |
A |
T |
6: 142,958,950 (GRCm39) |
M1003K |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,339,869 (GRCm39) |
M805V |
probably benign |
Het |
| Cep89 |
T |
G |
7: 35,131,977 (GRCm39) |
L637R |
probably damaging |
Het |
| Col24a1 |
A |
T |
3: 145,215,439 (GRCm39) |
I1444F |
probably benign |
Het |
| Commd4 |
A |
T |
9: 57,062,732 (GRCm39) |
S175T |
probably benign |
Het |
| Coq7 |
A |
G |
7: 118,109,340 (GRCm39) |
V236A |
unknown |
Het |
| Dctn2 |
C |
T |
10: 127,112,572 (GRCm39) |
R176C |
probably damaging |
Het |
| Ddx31 |
T |
C |
2: 28,750,782 (GRCm39) |
F389L |
probably damaging |
Het |
| Dgkz |
C |
T |
2: 91,776,047 (GRCm39) |
R72H |
probably benign |
Het |
| Dpysl4 |
A |
G |
7: 138,670,206 (GRCm39) |
D24G |
probably damaging |
Het |
| Dydc1 |
A |
G |
14: 40,804,295 (GRCm39) |
T106A |
probably benign |
Het |
| F13b |
A |
G |
1: 139,438,661 (GRCm39) |
Y355C |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,361,957 (GRCm39) |
M407V |
probably benign |
Het |
| Fzd5 |
C |
A |
1: 64,775,171 (GRCm39) |
V197L |
probably benign |
Het |
| Galnt16 |
G |
T |
12: 80,619,103 (GRCm39) |
E70* |
probably null |
Het |
| Gpr171 |
A |
T |
3: 59,005,386 (GRCm39) |
F130I |
probably damaging |
Het |
| Grin3a |
T |
C |
4: 49,770,484 (GRCm39) |
N763D |
probably damaging |
Het |
| Gsta2 |
A |
T |
9: 78,244,961 (GRCm39) |
M51K |
probably damaging |
Het |
| Gvin-ps3 |
T |
C |
7: 105,682,521 (GRCm39) |
|
noncoding transcript |
Het |
| Hacd3 |
A |
T |
9: 64,897,718 (GRCm39) |
I298N |
probably damaging |
Het |
| Il18r1 |
C |
T |
1: 40,530,224 (GRCm39) |
P317L |
probably benign |
Het |
| Iscu |
T |
A |
5: 113,915,037 (GRCm39) |
|
probably benign |
Het |
| Kif6 |
A |
G |
17: 50,014,647 (GRCm39) |
D250G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lcn6 |
T |
A |
2: 25,570,079 (GRCm39) |
C82S |
probably damaging |
Het |
| Mob4 |
C |
G |
1: 55,190,161 (GRCm39) |
L135V |
possibly damaging |
Het |
| Mpzl3 |
T |
A |
9: 44,973,554 (GRCm39) |
|
probably benign |
Het |
| Mvp |
T |
C |
7: 126,588,970 (GRCm39) |
D599G |
probably damaging |
Het |
| Myo1a |
T |
C |
10: 127,552,178 (GRCm39) |
Y766H |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,760,264 (GRCm39) |
H260R |
probably damaging |
Het |
| Nbea |
C |
T |
3: 55,992,667 (GRCm39) |
R313H |
probably damaging |
Het |
| Necab1 |
T |
A |
4: 14,978,216 (GRCm39) |
D211V |
probably damaging |
Het |
| Nefl |
G |
T |
14: 68,324,212 (GRCm39) |
|
probably benign |
Het |
| Nfx1 |
T |
A |
4: 40,976,375 (GRCm39) |
D16E |
probably benign |
Het |
| Nlrp9a |
G |
T |
7: 26,269,964 (GRCm39) |
C797F |
probably damaging |
Het |
| Or4k36 |
T |
A |
2: 111,146,163 (GRCm39) |
V113E |
probably damaging |
Het |
| Or5p5 |
A |
G |
7: 107,413,953 (GRCm39) |
Q56R |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,573,130 (GRCm39) |
D500G |
probably benign |
Het |
| Pgs1 |
T |
C |
11: 117,896,719 (GRCm39) |
|
probably null |
Het |
| Polr3b |
T |
A |
10: 84,473,988 (GRCm39) |
I189N |
probably damaging |
Het |
| Ppwd1 |
A |
T |
13: 104,356,616 (GRCm39) |
S300T |
probably benign |
Het |
| Prl2c2 |
A |
C |
13: 13,176,755 (GRCm39) |
N55K |
possibly damaging |
Het |
| Prpf19 |
C |
T |
19: 10,876,709 (GRCm39) |
|
probably benign |
Het |
| Prph2 |
G |
T |
17: 47,221,733 (GRCm39) |
L37F |
possibly damaging |
Het |
| Ptprg |
G |
T |
14: 12,226,427 (GRCm38) |
R565L |
possibly damaging |
Het |
| Rab8a |
C |
T |
8: 72,925,119 (GRCm39) |
T74M |
probably damaging |
Het |
| Rexo1 |
A |
T |
10: 80,385,527 (GRCm39) |
F510L |
probably damaging |
Het |
| Rexo2 |
G |
T |
9: 48,390,689 (GRCm39) |
T51K |
probably damaging |
Het |
| Sh3d21 |
T |
C |
4: 126,046,209 (GRCm39) |
K147R |
possibly damaging |
Het |
| Skint6 |
A |
G |
4: 112,692,265 (GRCm39) |
I1062T |
probably benign |
Het |
| Spag16 |
C |
T |
1: 70,764,087 (GRCm39) |
R636W |
probably damaging |
Het |
| Spata16 |
T |
C |
3: 26,894,872 (GRCm39) |
I307T |
possibly damaging |
Het |
| Speer4f2 |
T |
G |
5: 17,579,423 (GRCm39) |
I74S |
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,087,778 (GRCm39) |
Y1767F |
possibly damaging |
Het |
| Swt1 |
T |
C |
1: 151,299,293 (GRCm39) |
S7G |
probably benign |
Het |
| Tex9 |
A |
G |
9: 72,385,620 (GRCm39) |
|
probably null |
Het |
| Thsd7b |
C |
A |
1: 130,116,309 (GRCm39) |
P1354H |
probably damaging |
Het |
| Ticrr |
A |
G |
7: 79,319,416 (GRCm39) |
D467G |
probably damaging |
Het |
| Tmco5b |
A |
C |
2: 113,127,338 (GRCm39) |
D303A |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,665,978 (GRCm39) |
V876A |
probably damaging |
Het |
| Ttc21a |
G |
A |
9: 119,774,027 (GRCm39) |
E245K |
probably benign |
Het |
| Vezt |
C |
T |
10: 93,836,212 (GRCm39) |
|
probably null |
Het |
| Zscan20 |
G |
A |
4: 128,486,152 (GRCm39) |
P183S |
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 |
|
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 |
|
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 |
|
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'- AGAAGTCTCATCCTGGGCTG -3'
(R):5'- TGTTTCAGGAGGAAGACCCAG -3'
Sequencing Primer
(F):5'- ACACCATACACCTGTGCTGGG -3'
(R):5'- AGGAAGACCCAGGAAAGCATCC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation