Incidental Mutation 'R7784:3425401B19Rik'
| ID |
599465 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
3425401B19Rik
|
| Ensembl Gene |
ENSMUSG00000071540 |
| Gene Name |
RIKEN cDNA 3425401B19 gene |
| Synonyms |
|
| MMRRC Submission |
045840-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R7784 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
32381076-32407250 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32381797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 1389
(S1389R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096038]
|
| AlphaFold |
D3Z1D3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096038
AA Change: S1389R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000093741
Gene: ENSMUSG00000071540
AA Change: S1389R
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
A |
T |
5: 146,119,638 (GRCm39) |
|
probably null |
Het |
| Abca9 |
A |
T |
11: 110,045,243 (GRCm39) |
C363* |
probably null |
Het |
| Actbl2 |
T |
A |
13: 111,391,945 (GRCm39) |
N93K |
probably damaging |
Het |
| Adamtsl3 |
T |
C |
7: 82,223,197 (GRCm39) |
Y993H |
probably damaging |
Het |
| Adgrg1 |
G |
A |
8: 95,739,510 (GRCm39) |
W653* |
probably null |
Het |
| Akap13 |
T |
A |
7: 75,260,076 (GRCm39) |
V97D |
probably benign |
Het |
| Cacna1d |
T |
A |
14: 29,845,396 (GRCm39) |
D613V |
probably damaging |
Het |
| Col10a1 |
C |
A |
10: 34,270,214 (GRCm39) |
P62H |
unknown |
Het |
| Cpb2 |
A |
T |
14: 75,512,480 (GRCm39) |
N298Y |
probably damaging |
Het |
| Ddc |
A |
G |
11: 11,789,396 (GRCm39) |
|
probably null |
Het |
| Ddx6 |
T |
C |
9: 44,541,439 (GRCm39) |
|
probably null |
Het |
| Epb42 |
T |
G |
2: 120,864,916 (GRCm39) |
K58N |
probably benign |
Het |
| Eps8 |
T |
A |
6: 137,476,585 (GRCm39) |
I605L |
probably benign |
Het |
| Eps8l1 |
T |
C |
7: 4,475,121 (GRCm39) |
L304P |
probably damaging |
Het |
| Erbb4 |
T |
A |
1: 68,114,658 (GRCm39) |
I929F |
probably damaging |
Het |
| Erc2 |
A |
T |
14: 27,620,551 (GRCm39) |
N393I |
probably damaging |
Het |
| Fbxw25 |
C |
T |
9: 109,479,187 (GRCm39) |
D355N |
|
Het |
| Ffar2 |
T |
C |
7: 30,518,683 (GRCm39) |
K286E |
probably benign |
Het |
| Gabrd |
A |
G |
4: 155,473,389 (GRCm39) |
|
probably null |
Het |
| Ganc |
G |
A |
2: 120,267,149 (GRCm39) |
W488* |
probably null |
Het |
| Ifi207 |
T |
A |
1: 173,557,698 (GRCm39) |
M347L |
unknown |
Het |
| Kat6b |
A |
T |
14: 21,710,909 (GRCm39) |
I619F |
probably damaging |
Het |
| Kif26a |
A |
G |
12: 112,144,581 (GRCm39) |
R1612G |
possibly damaging |
Het |
| Kifc3 |
A |
G |
8: 95,837,320 (GRCm39) |
|
probably null |
Het |
| Krt39 |
A |
T |
11: 99,411,857 (GRCm39) |
C76* |
probably null |
Het |
| Lcmt1 |
G |
T |
7: 123,000,718 (GRCm39) |
R84L |
probably benign |
Het |
| Lrit1 |
A |
G |
14: 36,783,737 (GRCm39) |
Y355C |
probably benign |
Het |
| Mad2l1 |
C |
A |
6: 66,512,397 (GRCm39) |
|
probably null |
Het |
| Med23 |
C |
T |
10: 24,778,346 (GRCm39) |
T870M |
probably damaging |
Het |
| Mrpl2 |
A |
G |
17: 46,959,517 (GRCm39) |
|
probably null |
Het |
| Mtmr6 |
A |
G |
14: 60,537,894 (GRCm39) |
D593G |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,752,166 (GRCm39) |
V683M |
|
Het |
| Neb |
T |
A |
2: 52,125,500 (GRCm39) |
M506L |
|
Het |
| Or12d13 |
T |
C |
17: 37,647,469 (GRCm39) |
Y218C |
probably benign |
Het |
| Or12d13 |
A |
G |
17: 37,647,946 (GRCm39) |
F59S |
probably damaging |
Het |
| Or2a20 |
T |
A |
6: 43,194,322 (GRCm39) |
H158Q |
possibly damaging |
Het |
| Or9m1 |
G |
A |
2: 87,733,537 (GRCm39) |
T161I |
probably benign |
Het |
| Pdzd8 |
A |
G |
19: 59,316,295 (GRCm39) |
F294L |
probably damaging |
Het |
| Rabgap1 |
G |
A |
2: 37,377,544 (GRCm39) |
S347N |
possibly damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,044,201 (GRCm39) |
T350A |
|
Het |
| Rbp3 |
A |
T |
14: 33,676,115 (GRCm39) |
H21L |
probably benign |
Het |
| Rp1 |
C |
A |
1: 4,212,881 (GRCm39) |
V1069F |
unknown |
Het |
| Rtn4 |
T |
A |
11: 29,691,048 (GRCm39) |
L1113* |
probably null |
Het |
| Ryr3 |
A |
G |
2: 112,606,040 (GRCm39) |
F2407L |
probably damaging |
Het |
| Septin2 |
T |
A |
1: 93,425,166 (GRCm39) |
D107E |
probably damaging |
Het |
| Septin4 |
A |
G |
11: 87,469,834 (GRCm39) |
T7A |
probably benign |
Het |
| Slc34a3 |
T |
A |
2: 25,122,237 (GRCm39) |
I123F |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,639,936 (GRCm39) |
Y243H |
probably damaging |
Het |
| Slco1a1 |
T |
A |
6: 141,889,114 (GRCm39) |
E66V |
probably damaging |
Het |
| Slco1a7 |
C |
T |
6: 141,658,919 (GRCm39) |
|
probably null |
Het |
| Sp140l2 |
T |
A |
1: 85,190,195 (GRCm39) |
|
probably null |
Het |
| Spata33 |
A |
G |
8: 123,939,991 (GRCm39) |
R68G |
unknown |
Het |
| Spta1 |
G |
A |
1: 174,030,017 (GRCm39) |
D928N |
probably damaging |
Het |
| St8sia5 |
A |
G |
18: 77,342,246 (GRCm39) |
S319G |
probably benign |
Het |
| Tmem208 |
A |
G |
8: 106,055,465 (GRCm39) |
D149G |
possibly damaging |
Het |
| Trank1 |
A |
T |
9: 111,193,171 (GRCm39) |
I583F |
probably damaging |
Het |
| Trio |
C |
T |
15: 27,764,080 (GRCm39) |
V2015M |
probably damaging |
Het |
| Tsc22d1 |
C |
T |
14: 76,654,141 (GRCm39) |
Q207* |
probably null |
Het |
| Tshr |
A |
G |
12: 91,472,079 (GRCm39) |
D143G |
probably benign |
Het |
| Txlna |
C |
T |
4: 129,525,950 (GRCm39) |
R299H |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,176,789 (GRCm39) |
T1318S |
possibly damaging |
Het |
| Utp14b |
A |
G |
1: 78,642,660 (GRCm39) |
K186R |
probably damaging |
Het |
| Vars2 |
C |
T |
17: 35,969,050 (GRCm39) |
A884T |
possibly damaging |
Het |
| Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
| Zfp775 |
A |
G |
6: 48,596,183 (GRCm39) |
Q19R |
possibly 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 |
|
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 |
|
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'- GGGATCTCAAATGGCTAAGTATGAG -3'
(R):5'- TGCCTGTGACTTCCGTGATG -3'
Sequencing Primer
(F):5'- ATGGCTAAGTATGAGTTGAAATGTG -3'
(R):5'- GACTTCCGTGATGCCCCTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation