Incidental Mutation 'R2055:3425401B19Rik'
| ID |
226623 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
3425401B19Rik
|
| Ensembl Gene |
ENSMUSG00000071540 |
| Gene Name |
RIKEN cDNA 3425401B19 gene |
| Synonyms |
|
| MMRRC Submission |
040060-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R2055 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
32381076-32407250 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32384508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 486
(S486P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096038]
|
| AlphaFold |
D3Z1D3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096038
AA Change: S486P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000093741
Gene: ENSMUSG00000071540
AA Change: S486P
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
T |
C |
5: 138,561,107 (GRCm39) |
E185G |
probably damaging |
Het |
| A630023A22Rik |
T |
C |
14: 33,774,707 (GRCm39) |
|
probably benign |
Het |
| Abca1 |
T |
C |
4: 53,069,881 (GRCm39) |
N1271S |
probably benign |
Het |
| AI597479 |
C |
T |
1: 43,150,280 (GRCm39) |
A130V |
probably benign |
Het |
| Angptl4 |
A |
G |
17: 33,999,498 (GRCm39) |
|
probably null |
Het |
| Arhgef25 |
T |
A |
10: 127,021,004 (GRCm39) |
N294I |
probably damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,850,421 (GRCm39) |
V848A |
probably damaging |
Het |
| Bard1 |
T |
C |
1: 71,114,031 (GRCm39) |
T317A |
probably benign |
Het |
| C1rl |
T |
C |
6: 124,470,781 (GRCm39) |
W30R |
probably benign |
Het |
| Cchcr1 |
A |
G |
17: 35,837,317 (GRCm39) |
E379G |
probably damaging |
Het |
| Cfap36 |
G |
T |
11: 29,197,122 (GRCm39) |
A3E |
probably damaging |
Het |
| Cilp |
G |
A |
9: 65,186,997 (GRCm39) |
G1031S |
probably damaging |
Het |
| Clca4a |
A |
G |
3: 144,676,489 (GRCm39) |
Y64H |
probably damaging |
Het |
| Cops5 |
A |
G |
1: 10,102,562 (GRCm39) |
|
probably null |
Het |
| Cracr2a |
G |
T |
6: 127,585,564 (GRCm39) |
E121* |
probably null |
Het |
| Cstf1 |
A |
G |
2: 172,222,403 (GRCm39) |
E387G |
probably benign |
Het |
| D630044L22Rik |
A |
C |
17: 26,180,951 (GRCm39) |
D733E |
probably damaging |
Het |
| Dlc1 |
A |
T |
8: 37,060,535 (GRCm39) |
C514S |
probably damaging |
Het |
| Dmwd |
G |
T |
7: 18,810,610 (GRCm39) |
R139L |
probably benign |
Het |
| Dnah17 |
A |
T |
11: 117,958,357 (GRCm39) |
S2709T |
probably benign |
Het |
| Dnmt3a |
T |
C |
12: 3,922,859 (GRCm39) |
I154T |
probably benign |
Het |
| Dpp7 |
T |
C |
2: 25,244,490 (GRCm39) |
N297S |
possibly damaging |
Het |
| Ern2 |
A |
T |
7: 121,783,168 (GRCm39) |
V34D |
possibly damaging |
Het |
| Erp27 |
A |
G |
6: 136,885,227 (GRCm39) |
|
probably benign |
Het |
| F2 |
T |
C |
2: 91,458,787 (GRCm39) |
T508A |
probably benign |
Het |
| Fam181b |
A |
G |
7: 92,729,634 (GRCm39) |
T136A |
probably benign |
Het |
| Fam227b |
C |
A |
2: 125,942,874 (GRCm39) |
V308L |
probably benign |
Het |
| Fbxw20 |
A |
T |
9: 109,050,442 (GRCm39) |
H394Q |
probably damaging |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Glt8d1 |
T |
G |
14: 30,731,693 (GRCm39) |
S111A |
probably benign |
Het |
| Gm11146 |
A |
T |
16: 77,391,969 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
C |
T |
10: 119,885,416 (GRCm39) |
|
probably benign |
Het |
| H2-Q2 |
A |
T |
17: 35,564,247 (GRCm39) |
T334S |
probably benign |
Het |
| Hcrtr1 |
A |
G |
4: 130,024,680 (GRCm39) |
V402A |
probably benign |
Het |
| Hmcn2 |
C |
A |
2: 31,268,294 (GRCm39) |
A1130D |
probably benign |
Het |
| Hsd17b2 |
T |
C |
8: 118,428,913 (GRCm39) |
L60P |
possibly damaging |
Het |
| Htr1f |
A |
T |
16: 64,746,398 (GRCm39) |
I298N |
probably damaging |
Het |
| Ighmbp2 |
G |
T |
19: 3,315,095 (GRCm39) |
A775D |
probably benign |
Het |
| Kcnn3 |
A |
G |
3: 89,428,682 (GRCm39) |
T303A |
probably damaging |
Het |
| Kiz |
C |
A |
2: 146,733,203 (GRCm39) |
Q460K |
probably benign |
Het |
| Krt75 |
C |
T |
15: 101,481,196 (GRCm39) |
V193I |
probably benign |
Het |
| Lsp1 |
G |
A |
7: 142,043,144 (GRCm39) |
|
probably null |
Het |
| Mfsd12 |
A |
G |
10: 81,196,063 (GRCm39) |
H146R |
probably damaging |
Het |
| Mmp23 |
T |
C |
4: 155,736,444 (GRCm39) |
K199R |
possibly damaging |
Het |
| Naip2 |
A |
G |
13: 100,315,880 (GRCm39) |
V300A |
probably benign |
Het |
| Nbeal1 |
C |
T |
1: 60,350,216 (GRCm39) |
L2422F |
probably damaging |
Het |
| Nbeal2 |
G |
T |
9: 110,464,375 (GRCm39) |
D1094E |
possibly damaging |
Het |
| Nckap5 |
T |
C |
1: 125,954,635 (GRCm39) |
E639G |
probably damaging |
Het |
| Nr4a3 |
A |
G |
4: 48,067,771 (GRCm39) |
I456V |
possibly damaging |
Het |
| Or2t43 |
A |
G |
11: 58,457,673 (GRCm39) |
F166S |
probably damaging |
Het |
| Parp9 |
G |
T |
16: 35,773,984 (GRCm39) |
V86L |
probably damaging |
Het |
| Phactr1 |
A |
G |
13: 43,231,416 (GRCm39) |
N386S |
probably damaging |
Het |
| Pold2 |
A |
T |
11: 5,823,516 (GRCm39) |
Y304* |
probably null |
Het |
| Pou5f2 |
A |
G |
13: 78,173,940 (GRCm39) |
Y294C |
probably benign |
Het |
| Rars1 |
A |
G |
11: 35,717,410 (GRCm39) |
|
probably benign |
Het |
| Rbm12b1 |
A |
G |
4: 12,145,606 (GRCm39) |
E526G |
probably benign |
Het |
| Sacs |
T |
C |
14: 61,451,498 (GRCm39) |
Y4515H |
probably damaging |
Het |
| Sdk2 |
C |
A |
11: 113,741,780 (GRCm39) |
R813L |
probably damaging |
Het |
| Six5 |
T |
C |
7: 18,829,154 (GRCm39) |
V198A |
possibly damaging |
Het |
| Slco1a7 |
A |
T |
6: 141,671,181 (GRCm39) |
H430Q |
probably benign |
Het |
| Spata31e2 |
A |
T |
1: 26,724,813 (GRCm39) |
N122K |
possibly damaging |
Het |
| Spn |
A |
G |
7: 126,736,388 (GRCm39) |
S40P |
probably damaging |
Het |
| Ssr1 |
A |
G |
13: 38,171,761 (GRCm39) |
|
probably benign |
Het |
| Tlr6 |
C |
A |
5: 65,111,269 (GRCm39) |
C546F |
probably damaging |
Het |
| Top1 |
T |
A |
2: 160,544,748 (GRCm39) |
|
probably benign |
Het |
| Trhr2 |
A |
G |
8: 123,085,532 (GRCm39) |
S151P |
probably damaging |
Het |
| Tubb2b |
T |
G |
13: 34,311,708 (GRCm39) |
K362Q |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,643,832 (GRCm39) |
T1211A |
probably damaging |
Het |
| Vmn1r15 |
T |
C |
6: 57,235,729 (GRCm39) |
V199A |
possibly damaging |
Het |
| Vnn1 |
A |
G |
10: 23,776,475 (GRCm39) |
|
probably benign |
Het |
| Vps41 |
T |
A |
13: 19,038,786 (GRCm39) |
N737K |
possibly damaging |
Het |
| Vps50 |
T |
A |
6: 3,522,265 (GRCm39) |
N144K |
probably benign |
Het |
| Zc3h7a |
A |
T |
16: 10,955,340 (GRCm39) |
N911K |
probably benign |
Het |
| Zkscan7 |
T |
A |
9: 122,718,002 (GRCm39) |
S132R |
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 |
|
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 |
|
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'- GGTTTTCTTCAAGCCCATCGG -3'
(R):5'- GGTCAACTTCCAGAAAACGGTG -3'
Sequencing Primer
(F):5'- GTGACCCCATTGCTCAGAG -3'
(R):5'- AACGGTGTTCTAGACATGCC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation