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: 0.074)
|
| Stock # |
R4972 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
32659119-32685293 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32661404 bp (GRCm38)
|
| 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: 192,833,773 (GRCm38) |
|
noncoding transcript |
Het |
| Actl11 |
A |
G |
9: 107,929,956 (GRCm38) |
T493A |
probably benign |
Het |
| Actn1 |
T |
C |
12: 80,173,039 (GRCm38) |
D686G |
probably benign |
Het |
| Adamts1 |
G |
A |
16: 85,795,945 (GRCm38) |
T525I |
probably damaging |
Het |
| Adcy10 |
T |
A |
1: 165,556,862 (GRCm38) |
L1064H |
probably damaging |
Het |
| AI661453 |
A |
T |
17: 47,466,399 (GRCm38) |
|
probably benign |
Het |
| Apba1 |
T |
A |
19: 23,912,536 (GRCm38) |
S433T |
probably benign |
Het |
| Arid4b |
T |
A |
13: 14,160,272 (GRCm38) |
N355K |
probably benign |
Het |
| Bsn |
A |
T |
9: 108,115,178 (GRCm38) |
M1125K |
probably damaging |
Het |
| C2cd5 |
A |
T |
6: 143,013,224 (GRCm38) |
M1003K |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,192,003 (GRCm38) |
M805V |
probably benign |
Het |
| Cep89 |
T |
G |
7: 35,432,552 (GRCm38) |
L637R |
probably damaging |
Het |
| Col24a1 |
A |
T |
3: 145,509,684 (GRCm38) |
I1444F |
probably benign |
Het |
| Commd4 |
A |
T |
9: 57,155,448 (GRCm38) |
S175T |
probably benign |
Het |
| Coq7 |
A |
G |
7: 118,510,117 (GRCm38) |
V236A |
unknown |
Het |
| Dctn2 |
C |
T |
10: 127,276,703 (GRCm38) |
R176C |
probably damaging |
Het |
| Ddx31 |
T |
C |
2: 28,860,770 (GRCm38) |
F389L |
probably damaging |
Het |
| Dgkz |
C |
T |
2: 91,945,702 (GRCm38) |
R72H |
probably benign |
Het |
| Dpysl4 |
A |
G |
7: 139,090,290 (GRCm38) |
D24G |
probably damaging |
Het |
| Dydc1 |
A |
G |
14: 41,082,338 (GRCm38) |
T106A |
probably benign |
Het |
| F13b |
A |
G |
1: 139,510,923 (GRCm38) |
Y355C |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,454,650 (GRCm38) |
M407V |
probably benign |
Het |
| Fzd5 |
C |
A |
1: 64,736,012 (GRCm38) |
V197L |
probably benign |
Het |
| Galnt16 |
G |
T |
12: 80,572,329 (GRCm38) |
E70* |
probably null |
Het |
| Gm8979 |
T |
C |
7: 106,083,314 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr171 |
A |
T |
3: 59,097,965 (GRCm38) |
F130I |
probably damaging |
Het |
| Grin3a |
T |
C |
4: 49,770,484 (GRCm38) |
N763D |
probably damaging |
Het |
| Gsta2 |
A |
T |
9: 78,337,679 (GRCm38) |
M51K |
probably damaging |
Het |
| Hacd3 |
A |
T |
9: 64,990,436 (GRCm38) |
I298N |
probably damaging |
Het |
| Il18r1 |
C |
T |
1: 40,491,064 (GRCm38) |
P317L |
probably benign |
Het |
| Iscu |
T |
A |
5: 113,776,976 (GRCm38) |
|
probably benign |
Het |
| Kif6 |
A |
G |
17: 49,707,619 (GRCm38) |
D250G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,692,077 (GRCm38) |
C51Y |
probably damaging |
Het |
| Lcn6 |
T |
A |
2: 25,680,067 (GRCm38) |
C82S |
probably damaging |
Het |
| Mob4 |
C |
G |
1: 55,151,002 (GRCm38) |
L135V |
possibly damaging |
Het |
| Mpzl3 |
T |
A |
9: 45,062,256 (GRCm38) |
|
probably benign |
Het |
| Mvp |
T |
C |
7: 126,989,798 (GRCm38) |
D599G |
probably damaging |
Het |
| Myo1a |
T |
C |
10: 127,716,309 (GRCm38) |
Y766H |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,627,193 (GRCm38) |
H260R |
probably damaging |
Het |
| Nbea |
C |
T |
3: 56,085,246 (GRCm38) |
R313H |
probably damaging |
Het |
| Necab1 |
T |
A |
4: 14,978,216 (GRCm38) |
D211V |
probably damaging |
Het |
| Nefl |
G |
T |
14: 68,086,763 (GRCm38) |
|
probably benign |
Het |
| Nfx1 |
T |
A |
4: 40,976,375 (GRCm38) |
D16E |
probably benign |
Het |
| Nlrp9a |
G |
T |
7: 26,570,539 (GRCm38) |
C797F |
probably damaging |
Het |
| Olfr1280 |
T |
A |
2: 111,315,818 (GRCm38) |
V113E |
probably damaging |
Het |
| Olfr467 |
A |
G |
7: 107,814,746 (GRCm38) |
Q56R |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,425,264 (GRCm38) |
D500G |
probably benign |
Het |
| Pgs1 |
T |
C |
11: 118,005,893 (GRCm38) |
|
probably null |
Het |
| Polr3b |
T |
A |
10: 84,638,124 (GRCm38) |
I189N |
probably damaging |
Het |
| Ppwd1 |
A |
T |
13: 104,220,108 (GRCm38) |
S300T |
probably benign |
Het |
| Prl2c2 |
A |
C |
13: 13,002,170 (GRCm38) |
N55K |
possibly damaging |
Het |
| Prpf19 |
C |
T |
19: 10,899,345 (GRCm38) |
|
probably benign |
Het |
| Prph2 |
G |
T |
17: 46,910,807 (GRCm38) |
L37F |
possibly damaging |
Het |
| Ptprg |
G |
T |
14: 12,226,427 (GRCm38) |
R565L |
possibly damaging |
Het |
| Rab8a |
C |
T |
8: 72,171,275 (GRCm38) |
T74M |
probably damaging |
Het |
| Rexo1 |
A |
T |
10: 80,549,693 (GRCm38) |
F510L |
probably damaging |
Het |
| Rexo2 |
G |
T |
9: 48,479,389 (GRCm38) |
T51K |
probably damaging |
Het |
| Sh3d21 |
T |
C |
4: 126,152,416 (GRCm38) |
K147R |
possibly damaging |
Het |
| Skint6 |
A |
G |
4: 112,835,068 (GRCm38) |
I1062T |
probably benign |
Het |
| Spag16 |
C |
T |
1: 70,724,928 (GRCm38) |
R636W |
probably damaging |
Het |
| Spata16 |
T |
C |
3: 26,840,723 (GRCm38) |
I307T |
possibly damaging |
Het |
| Speer4f2 |
T |
G |
5: 17,374,425 (GRCm38) |
I74S |
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,087,778 (GRCm38) |
Y1767F |
possibly damaging |
Het |
| Swt1 |
T |
C |
1: 151,423,542 (GRCm38) |
S7G |
probably benign |
Het |
| Tex9 |
A |
G |
9: 72,478,338 (GRCm38) |
|
probably null |
Het |
| Thsd7b |
C |
A |
1: 130,188,572 (GRCm38) |
P1354H |
probably damaging |
Het |
| Ticrr |
A |
G |
7: 79,669,668 (GRCm38) |
D467G |
probably damaging |
Het |
| Tmco5b |
A |
C |
2: 113,296,993 (GRCm38) |
D303A |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,824,058 (GRCm38) |
V876A |
probably damaging |
Het |
| Ttc21a |
G |
A |
9: 119,944,961 (GRCm38) |
E245K |
probably benign |
Het |
| Vezt |
C |
T |
10: 94,000,350 (GRCm38) |
|
probably null |
Het |
| Zscan20 |
G |
A |
4: 128,592,359 (GRCm38) |
P183S |
probably benign |
Het |
|
| Other mutations in 3425401B19Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00839:3425401B19Rik
|
APN |
14 |
32,660,916 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL00844:3425401B19Rik
|
APN |
14 |
32,662,999 (GRCm38) |
nonsense |
probably null |
|
|
IGL01292:3425401B19Rik
|
APN |
14 |
32,660,874 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL01295:3425401B19Rik
|
APN |
14 |
32,661,936 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
IGL01457:3425401B19Rik
|
APN |
14 |
32,660,951 (GRCm38) |
missense |
probably benign |
|
|
IGL01470:3425401B19Rik
|
APN |
14 |
32,660,457 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
IGL01612:3425401B19Rik
|
APN |
14 |
32,660,031 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
IGL01974:3425401B19Rik
|
APN |
14 |
32,659,805 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
IGL02095:3425401B19Rik
|
APN |
14 |
32,661,626 (GRCm38) |
missense |
probably benign |
0.33 |
|
IGL02138:3425401B19Rik
|
APN |
14 |
32,662,715 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
IGL02178:3425401B19Rik
|
APN |
14 |
32,662,461 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
IGL02245:3425401B19Rik
|
APN |
14 |
32,659,815 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02529:3425401B19Rik
|
APN |
14 |
32,661,233 (GRCm38) |
missense |
probably benign |
|
|
IGL03401:3425401B19Rik
|
APN |
14 |
32,662,266 (GRCm38) |
nonsense |
probably null |
|
|
PIT4515001:3425401B19Rik
|
UTSW |
14 |
32,661,111 (GRCm38) |
nonsense |
probably null |
|
|
R0233:3425401B19Rik
|
UTSW |
14 |
32,663,373 (GRCm38) |
missense |
probably benign |
|
|
R0233:3425401B19Rik
|
UTSW |
14 |
32,663,373 (GRCm38) |
missense |
probably benign |
|
|
R0320:3425401B19Rik
|
UTSW |
14 |
32,662,614 (GRCm38) |
missense |
probably benign |
0.19 |
|
R0519:3425401B19Rik
|
UTSW |
14 |
32,662,962 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0551:3425401B19Rik
|
UTSW |
14 |
32,662,641 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0759:3425401B19Rik
|
UTSW |
14 |
32,662,497 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0831:3425401B19Rik
|
UTSW |
14 |
32,662,271 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1124:3425401B19Rik
|
UTSW |
14 |
32,662,082 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R1346:3425401B19Rik
|
UTSW |
14 |
32,660,814 (GRCm38) |
missense |
probably benign |
0.07 |
|
R1997:3425401B19Rik
|
UTSW |
14 |
32,660,048 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R2055:3425401B19Rik
|
UTSW |
14 |
32,662,551 (GRCm38) |
missense |
probably benign |
|
|
R2212:3425401B19Rik
|
UTSW |
14 |
32,661,602 (GRCm38) |
missense |
probably benign |
0.33 |
|
R2416:3425401B19Rik
|
UTSW |
14 |
32,663,834 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2441:3425401B19Rik
|
UTSW |
14 |
32,663,492 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R2513:3425401B19Rik
|
UTSW |
14 |
32,661,852 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R3414:3425401B19Rik
|
UTSW |
14 |
32,661,602 (GRCm38) |
missense |
probably benign |
0.33 |
|
R3800:3425401B19Rik
|
UTSW |
14 |
32,663,068 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R3809:3425401B19Rik
|
UTSW |
14 |
32,663,693 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R4166:3425401B19Rik
|
UTSW |
14 |
32,660,955 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R4581:3425401B19Rik
|
UTSW |
14 |
32,661,871 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R4721:3425401B19Rik
|
UTSW |
14 |
32,663,150 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4769:3425401B19Rik
|
UTSW |
14 |
32,660,217 (GRCm38) |
missense |
probably benign |
0.32 |
|
R4809:3425401B19Rik
|
UTSW |
14 |
32,662,631 (GRCm38) |
missense |
probably benign |
0.19 |
|
R4919:3425401B19Rik
|
UTSW |
14 |
32,663,288 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R4925:3425401B19Rik
|
UTSW |
14 |
32,663,180 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R5068:3425401B19Rik
|
UTSW |
14 |
32,661,792 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R5069:3425401B19Rik
|
UTSW |
14 |
32,661,792 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R5070:3425401B19Rik
|
UTSW |
14 |
32,661,792 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R5258:3425401B19Rik
|
UTSW |
14 |
32,663,309 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5435:3425401B19Rik
|
UTSW |
14 |
32,661,456 (GRCm38) |
missense |
probably benign |
0.18 |
|
R5549:3425401B19Rik
|
UTSW |
14 |
32,663,036 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R5678:3425401B19Rik
|
UTSW |
14 |
32,662,053 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5680:3425401B19Rik
|
UTSW |
14 |
32,662,053 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5872:3425401B19Rik
|
UTSW |
14 |
32,660,352 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R5896:3425401B19Rik
|
UTSW |
14 |
32,661,675 (GRCm38) |
nonsense |
probably null |
|
|
R5940:3425401B19Rik
|
UTSW |
14 |
32,662,688 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6044:3425401B19Rik
|
UTSW |
14 |
32,660,657 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R6136:3425401B19Rik
|
UTSW |
14 |
32,662,282 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R6277:3425401B19Rik
|
UTSW |
14 |
32,663,694 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R6385:3425401B19Rik
|
UTSW |
14 |
32,661,279 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6728:3425401B19Rik
|
UTSW |
14 |
32,662,688 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6984:3425401B19Rik
|
UTSW |
14 |
32,661,980 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7047:3425401B19Rik
|
UTSW |
14 |
32,660,174 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7249:3425401B19Rik
|
UTSW |
14 |
32,663,314 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R7493:3425401B19Rik
|
UTSW |
14 |
32,663,300 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R7575:3425401B19Rik
|
UTSW |
14 |
32,662,632 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7742:3425401B19Rik
|
UTSW |
14 |
32,662,757 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R7747:3425401B19Rik
|
UTSW |
14 |
32,663,069 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R7784:3425401B19Rik
|
UTSW |
14 |
32,659,840 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8098:3425401B19Rik
|
UTSW |
14 |
32,662,661 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8111:3425401B19Rik
|
UTSW |
14 |
32,660,309 (GRCm38) |
nonsense |
probably null |
|
|
R8171:3425401B19Rik
|
UTSW |
14 |
32,662,025 (GRCm38) |
missense |
probably benign |
|
|
R8276:3425401B19Rik
|
UTSW |
14 |
32,663,928 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8330:3425401B19Rik
|
UTSW |
14 |
32,659,793 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8422:3425401B19Rik
|
UTSW |
14 |
32,662,297 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R8464:3425401B19Rik
|
UTSW |
14 |
32,659,977 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R8880:3425401B19Rik
|
UTSW |
14 |
32,660,880 (GRCm38) |
missense |
probably benign |
0.33 |
|
R8898:3425401B19Rik
|
UTSW |
14 |
32,661,044 (GRCm38) |
nonsense |
probably null |
|
|
R8911:3425401B19Rik
|
UTSW |
14 |
32,661,669 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R8934:3425401B19Rik
|
UTSW |
14 |
32,660,657 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R9094:3425401B19Rik
|
UTSW |
14 |
32,660,657 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R9399:3425401B19Rik
|
UTSW |
14 |
32,662,658 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9435:3425401B19Rik
|
UTSW |
14 |
32,660,605 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9485:3425401B19Rik
|
UTSW |
14 |
32,661,443 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9766:3425401B19Rik
|
UTSW |
14 |
32,663,831 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0025:3425401B19Rik
|
UTSW |
14 |
32,662,469 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Z1177:3425401B19Rik
|
UTSW |
14 |
32,661,398 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1177:3425401B19Rik
|
UTSW |
14 |
32,659,808 (GRCm38) |
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