Incidental Mutation 'R6385:3425401B19Rik'
| ID |
515567 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
3425401B19Rik
|
| Ensembl Gene |
ENSMUSG00000071540 |
| Gene Name |
RIKEN cDNA 3425401B19 gene |
| Synonyms |
|
| MMRRC Submission |
044534-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R6385 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
32381076-32407250 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32383236 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 910
(M910L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096038]
|
| AlphaFold |
D3Z1D3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096038
AA Change: M910L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000093741
Gene: ENSMUSG00000071540
AA Change: M910L
| 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: 99.9%
- 10x: 99.3%
- 20x: 97.4%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,025,080 (GRCm39) |
I988F |
probably damaging |
Het |
| Adgra2 |
A |
T |
8: 27,608,878 (GRCm39) |
S92C |
probably damaging |
Het |
| Apon |
A |
G |
10: 128,090,223 (GRCm39) |
|
probably benign |
Het |
| Arap3 |
G |
A |
18: 38,130,084 (GRCm39) |
R26* |
probably null |
Het |
| Btnl6 |
T |
G |
17: 34,727,343 (GRCm39) |
I396L |
probably benign |
Het |
| Catsper3 |
G |
T |
13: 55,934,239 (GRCm39) |
Q53H |
probably damaging |
Het |
| Cep164 |
T |
G |
9: 45,691,081 (GRCm39) |
E372A |
probably damaging |
Het |
| Cln3 |
A |
T |
7: 126,174,207 (GRCm39) |
C339S |
probably null |
Het |
| Cntnap2 |
G |
A |
6: 46,833,114 (GRCm39) |
D776N |
probably benign |
Het |
| Cttnbp2nl |
A |
G |
3: 104,912,952 (GRCm39) |
F311L |
probably benign |
Het |
| Daam2 |
C |
T |
17: 49,770,964 (GRCm39) |
A918T |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,346,549 (GRCm39) |
V7353A |
possibly damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fanca |
A |
T |
8: 124,032,606 (GRCm39) |
|
probably null |
Het |
| Filip1 |
G |
T |
9: 79,727,813 (GRCm39) |
Q269K |
possibly damaging |
Het |
| Fut9 |
G |
A |
4: 25,620,328 (GRCm39) |
S162L |
probably damaging |
Het |
| Gtf2ird1 |
A |
T |
5: 134,433,544 (GRCm39) |
H294Q |
probably benign |
Het |
| Gucy1a1 |
A |
G |
3: 82,016,313 (GRCm39) |
I225T |
probably benign |
Het |
| H2-DMb1 |
T |
A |
17: 34,374,576 (GRCm39) |
N75K |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
| Hes1 |
A |
G |
16: 29,884,424 (GRCm39) |
M6V |
possibly damaging |
Het |
| Hydin |
A |
T |
8: 111,038,856 (GRCm39) |
H198L |
possibly damaging |
Het |
| Iars1 |
T |
C |
13: 49,855,371 (GRCm39) |
L266P |
probably damaging |
Het |
| Ifna11 |
A |
G |
4: 88,738,386 (GRCm39) |
E64G |
probably damaging |
Het |
| Inpp5d |
T |
A |
1: 87,627,397 (GRCm39) |
L566Q |
probably damaging |
Het |
| Kcnh3 |
T |
C |
15: 99,125,822 (GRCm39) |
S160P |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,838,326 (GRCm39) |
T850A |
probably damaging |
Het |
| Lgi3 |
A |
G |
14: 70,768,610 (GRCm39) |
T36A |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,326,128 (GRCm39) |
S1810G |
probably benign |
Het |
| Lypd10 |
A |
T |
7: 24,413,535 (GRCm39) |
I184F |
probably damaging |
Het |
| Msln |
T |
A |
17: 25,970,115 (GRCm39) |
D280V |
probably benign |
Het |
| Myh4 |
A |
T |
11: 67,146,663 (GRCm39) |
I1513F |
probably damaging |
Het |
| Ncf2 |
A |
T |
1: 152,706,173 (GRCm39) |
M262L |
probably benign |
Het |
| Neb |
G |
T |
2: 52,075,311 (GRCm39) |
A218D |
probably damaging |
Het |
| Notch4 |
C |
A |
17: 34,792,788 (GRCm39) |
Q640K |
probably null |
Het |
| Or4f7 |
T |
C |
2: 111,644,964 (GRCm39) |
I36V |
probably benign |
Het |
| Or52e19b |
A |
T |
7: 103,033,104 (GRCm39) |
V35D |
possibly damaging |
Het |
| Or6k6 |
A |
T |
1: 173,944,862 (GRCm39) |
F240Y |
probably damaging |
Het |
| Pear1 |
G |
T |
3: 87,661,506 (GRCm39) |
H562N |
probably benign |
Het |
| Poli |
C |
A |
18: 70,663,072 (GRCm39) |
|
probably benign |
Het |
| Ppp3r2 |
A |
G |
4: 49,681,767 (GRCm39) |
I61T |
possibly damaging |
Het |
| Rfc5 |
T |
C |
5: 117,523,463 (GRCm39) |
T112A |
probably benign |
Het |
| Serhl |
A |
G |
15: 82,985,823 (GRCm39) |
T5A |
probably benign |
Het |
| Shank3 |
T |
C |
15: 89,405,578 (GRCm39) |
|
probably null |
Het |
| Slc22a28 |
A |
G |
19: 8,078,844 (GRCm39) |
S282P |
probably damaging |
Het |
| Slc2a12 |
C |
T |
10: 22,569,929 (GRCm39) |
T540I |
possibly damaging |
Het |
| Slurp2 |
T |
C |
15: 74,618,524 (GRCm39) |
M1V |
probably null |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tln2 |
C |
T |
9: 67,185,411 (GRCm39) |
A700T |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,748,192 (GRCm39) |
V4286I |
probably benign |
Het |
| Ube2u |
A |
G |
4: 100,389,341 (GRCm39) |
K214R |
possibly damaging |
Het |
| Vmn1r46 |
A |
G |
6: 89,953,427 (GRCm39) |
H92R |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,067,504 (GRCm39) |
I1486T |
probably damaging |
Het |
| Zc3h11a |
A |
T |
1: 133,565,192 (GRCm39) |
S236T |
possibly damaging |
Het |
| Zfp318 |
A |
G |
17: 46,721,932 (GRCm39) |
K1312E |
probably damaging |
Het |
| Zfp930 |
A |
G |
8: 69,681,283 (GRCm39) |
Y326C |
probably damaging |
Het |
| Zfp972 |
G |
T |
2: 177,563,588 (GRCm39) |
D8E |
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 |
|
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 |
|
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'- CCCCAAGTCTGCTGATTTGC -3'
(R):5'- GCACAGACTGTTCCCAATTAAAG -3'
Sequencing Primer
(F):5'- ACCTGCCGTATCTGGGGATG -3'
(R):5'- AGACTGTTCCCAATTAAAGACAAC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation