Incidental Mutation 'R0519:3425401B19Rik'
| ID |
48416 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
3425401B19Rik
|
| Ensembl Gene |
ENSMUSG00000071540 |
| Gene Name |
RIKEN cDNA 3425401B19 gene |
| Synonyms |
|
| MMRRC Submission |
038712-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R0519 (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 32384919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 349
(S349P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096038]
|
| AlphaFold |
D3Z1D3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096038
AA Change: S349P
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000093741
Gene: ENSMUSG00000071540
AA Change: S349P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226958
|
| Meta Mutation Damage Score |
0.1286 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.6%
- 20x: 93.2%
|
| Validation Efficiency |
99% (74/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
A |
G |
5: 107,696,067 (GRCm39) |
R168G |
probably benign |
Het |
| 2810004N23Rik |
C |
T |
8: 125,566,668 (GRCm39) |
G251R |
possibly damaging |
Het |
| Ackr4 |
A |
G |
9: 103,976,650 (GRCm39) |
V99A |
probably benign |
Het |
| Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
| Asxl3 |
A |
G |
18: 22,656,577 (GRCm39) |
Q1529R |
possibly damaging |
Het |
| Atg12 |
T |
C |
18: 46,874,477 (GRCm39) |
E46G |
probably benign |
Het |
| Cdcp2 |
A |
G |
4: 106,964,389 (GRCm39) |
|
probably benign |
Het |
| Clasrp |
A |
G |
7: 19,318,089 (GRCm39) |
|
probably benign |
Het |
| Clip2 |
A |
G |
5: 134,545,005 (GRCm39) |
V383A |
probably benign |
Het |
| Cntln |
C |
T |
4: 84,923,290 (GRCm39) |
|
probably benign |
Het |
| Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
| Csmd2 |
A |
C |
4: 128,380,798 (GRCm39) |
Y2118S |
possibly damaging |
Het |
| Dip2c |
T |
A |
13: 9,613,244 (GRCm39) |
V415E |
probably damaging |
Het |
| Dpy19l2 |
C |
T |
9: 24,469,391 (GRCm39) |
R755Q |
probably benign |
Het |
| Dsn1 |
A |
T |
2: 156,840,633 (GRCm39) |
|
probably benign |
Het |
| Dtd2 |
T |
C |
12: 52,051,742 (GRCm39) |
|
probably benign |
Het |
| Dync1i1 |
A |
G |
6: 6,027,399 (GRCm39) |
T602A |
probably benign |
Het |
| Ercc6 |
A |
C |
14: 32,248,799 (GRCm39) |
D450A |
probably damaging |
Het |
| Fgf12 |
A |
T |
16: 28,008,380 (GRCm39) |
V104D |
probably benign |
Het |
| Frem1 |
A |
T |
4: 82,888,870 (GRCm39) |
|
probably null |
Het |
| Gcgr |
G |
T |
11: 120,426,982 (GRCm39) |
W88L |
probably damaging |
Het |
| Glb1 |
ACCC |
ACC |
9: 114,250,812 (GRCm39) |
|
probably null |
Het |
| Hapln1 |
A |
G |
13: 89,732,835 (GRCm39) |
|
probably benign |
Het |
| Hmgn3 |
T |
C |
9: 82,994,301 (GRCm39) |
E40G |
probably damaging |
Het |
| Hsdl1 |
G |
A |
8: 120,292,450 (GRCm39) |
A255V |
probably damaging |
Het |
| Hyls1 |
T |
C |
9: 35,472,499 (GRCm39) |
K306E |
probably damaging |
Het |
| Jcad |
C |
T |
18: 4,649,122 (GRCm39) |
|
probably benign |
Het |
| Kif14 |
C |
A |
1: 136,396,885 (GRCm39) |
A397E |
probably damaging |
Het |
| Lcmt2 |
A |
T |
2: 120,969,825 (GRCm39) |
|
probably null |
Het |
| Lifr |
T |
C |
15: 7,207,061 (GRCm39) |
L524P |
probably damaging |
Het |
| Ly6g6f |
T |
C |
17: 35,301,828 (GRCm39) |
K209E |
possibly damaging |
Het |
| Macf1 |
G |
A |
4: 123,365,113 (GRCm39) |
T1651I |
probably benign |
Het |
| Mapk4 |
T |
C |
18: 74,103,392 (GRCm39) |
D39G |
probably damaging |
Het |
| Mbl1 |
A |
G |
14: 40,880,522 (GRCm39) |
M137V |
probably damaging |
Het |
| Mcm10 |
G |
A |
2: 5,013,356 (GRCm39) |
S92L |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,828,383 (GRCm39) |
K265R |
possibly damaging |
Het |
| Mxra7 |
A |
G |
11: 116,701,612 (GRCm39) |
|
probably null |
Het |
| Neu3 |
G |
A |
7: 99,472,524 (GRCm39) |
|
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,460,648 (GRCm39) |
T2395A |
probably benign |
Het |
| Or1j1 |
T |
A |
2: 36,702,627 (GRCm39) |
H159L |
probably damaging |
Het |
| Or5m9 |
A |
T |
2: 85,877,411 (GRCm39) |
Y195F |
probably benign |
Het |
| Or6s1 |
T |
A |
14: 51,308,614 (GRCm39) |
I79F |
probably damaging |
Het |
| Or7g34 |
A |
T |
9: 19,478,245 (GRCm39) |
I145N |
probably benign |
Het |
| Osgepl1 |
T |
C |
1: 53,360,255 (GRCm39) |
V327A |
probably damaging |
Het |
| Pcdhb21 |
T |
C |
18: 37,649,085 (GRCm39) |
V738A |
possibly damaging |
Het |
| Plekha8 |
A |
T |
6: 54,599,092 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
A |
C |
10: 107,374,781 (GRCm39) |
|
probably benign |
Het |
| Pus10 |
T |
A |
11: 23,661,201 (GRCm39) |
F263Y |
probably benign |
Het |
| Rad54b |
A |
T |
4: 11,599,809 (GRCm39) |
I338F |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,585,498 (GRCm39) |
F756L |
probably damaging |
Het |
| Scn11a |
A |
G |
9: 119,619,185 (GRCm39) |
L719P |
probably damaging |
Het |
| Slc2a2 |
G |
A |
3: 28,772,965 (GRCm39) |
V253I |
possibly damaging |
Het |
| Slc39a4 |
A |
T |
15: 76,499,338 (GRCm39) |
N192K |
probably benign |
Het |
| Soat1 |
T |
A |
1: 156,268,816 (GRCm39) |
I245F |
probably damaging |
Het |
| Sorcs2 |
G |
A |
5: 36,188,534 (GRCm39) |
A858V |
probably benign |
Het |
| Tcim |
T |
C |
8: 24,928,651 (GRCm39) |
T88A |
possibly damaging |
Het |
| Tecta |
G |
A |
9: 42,259,188 (GRCm39) |
|
probably benign |
Het |
| Tgm5 |
C |
A |
2: 120,879,376 (GRCm39) |
L553F |
probably damaging |
Het |
| Tjp1 |
A |
G |
7: 64,952,669 (GRCm39) |
V1555A |
probably benign |
Het |
| Tmem214 |
A |
C |
5: 31,027,012 (GRCm39) |
M1L |
probably null |
Het |
| Togaram1 |
T |
C |
12: 65,012,776 (GRCm39) |
|
probably benign |
Het |
| Topaz1 |
C |
A |
9: 122,578,544 (GRCm39) |
L485I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,548,626 (GRCm39) |
|
probably benign |
Het |
| Ube2o |
A |
G |
11: 116,437,285 (GRCm39) |
|
probably null |
Het |
| Ubr7 |
T |
A |
12: 102,734,465 (GRCm39) |
D246E |
probably benign |
Het |
| Vcpkmt |
T |
C |
12: 69,629,102 (GRCm39) |
D132G |
probably benign |
Het |
| Vmn2r111 |
T |
A |
17: 22,792,102 (GRCm39) |
Q51H |
probably benign |
Het |
| Vmn2r95 |
C |
T |
17: 18,659,765 (GRCm39) |
P170S |
probably damaging |
Het |
| Zbtb38 |
A |
G |
9: 96,567,826 (GRCm39) |
I1086T |
probably damaging |
Het |
| Zfp444 |
G |
A |
7: 6,191,172 (GRCm39) |
A118T |
probably benign |
Het |
| Zp2 |
A |
G |
7: 119,737,372 (GRCm39) |
I272T |
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 |
|
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 |
|
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'- TGGGCTGTTTCTTGTCTTCCAAAGC -3'
(R):5'- TTGAGCCAAGGTATCCCTCTCCAC -3'
Sequencing Primer
(F):5'- TCTTCCAAAGCATCAGGTGG -3'
(R):5'- CCAAGGAGGACTTTTCTGCAC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation