Incidental Mutation 'R4581:3425401B19Rik'
| ID |
343696 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
3425401B19Rik
|
| Ensembl Gene |
ENSMUSG00000071540 |
| Gene Name |
RIKEN cDNA 3425401B19 gene |
| Synonyms |
|
| MMRRC Submission |
041802-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R4581 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
32381076-32407250 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 32383828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 712
(S712R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096038]
|
| AlphaFold |
D3Z1D3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096038
AA Change: S712R
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000093741
Gene: ENSMUSG00000071540
AA Change: S712R
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
G |
4: 123,754,146 (GRCm39) |
D20G |
possibly damaging |
Het |
| Abca7 |
A |
G |
10: 79,842,402 (GRCm39) |
D1112G |
probably benign |
Het |
| Actc1 |
G |
T |
2: 113,880,089 (GRCm39) |
H175N |
possibly damaging |
Het |
| Adgrd1 |
C |
T |
5: 129,279,595 (GRCm39) |
A863V |
possibly damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,430,979 (GRCm39) |
D935G |
possibly damaging |
Het |
| Ankrd7 |
T |
A |
6: 18,868,020 (GRCm39) |
N95K |
probably damaging |
Het |
| Arhgef4 |
G |
A |
1: 34,771,205 (GRCm39) |
E1171K |
possibly damaging |
Het |
| Ascc3 |
T |
C |
10: 50,587,121 (GRCm39) |
I991T |
probably damaging |
Het |
| Cacna1s |
T |
A |
1: 135,998,708 (GRCm39) |
|
probably null |
Het |
| Camk1d |
A |
T |
2: 5,359,515 (GRCm39) |
V177E |
probably benign |
Het |
| Cdh18 |
T |
A |
15: 23,226,869 (GRCm39) |
I110N |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,952,761 (GRCm39) |
K1484E |
probably benign |
Het |
| Cep68 |
A |
G |
11: 20,189,333 (GRCm39) |
S560P |
probably benign |
Het |
| Cog3 |
G |
T |
14: 75,970,391 (GRCm39) |
T352K |
probably benign |
Het |
| Cox6a2 |
A |
G |
7: 127,805,152 (GRCm39) |
S44P |
possibly damaging |
Het |
| Cplane1 |
C |
A |
15: 8,201,282 (GRCm39) |
P20T |
possibly damaging |
Het |
| Csmd2 |
T |
C |
4: 128,262,881 (GRCm39) |
V689A |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,476,295 (GRCm39) |
M1548L |
possibly damaging |
Het |
| Dennd5b |
G |
T |
6: 148,918,482 (GRCm39) |
|
silent |
Het |
| Dlgap2 |
T |
C |
8: 14,896,679 (GRCm39) |
Y1052H |
probably damaging |
Het |
| Dnaaf5 |
T |
A |
5: 139,170,440 (GRCm39) |
D502E |
probably damaging |
Het |
| Efhb |
C |
A |
17: 53,733,303 (GRCm39) |
A523S |
probably damaging |
Het |
| Epha8 |
C |
T |
4: 136,660,775 (GRCm39) |
V648M |
probably damaging |
Het |
| Fanca |
C |
T |
8: 124,001,077 (GRCm39) |
|
probably null |
Het |
| Fbxw7 |
G |
A |
3: 84,874,852 (GRCm39) |
E205K |
probably benign |
Het |
| Fer1l6 |
C |
T |
15: 58,512,075 (GRCm39) |
T1514I |
probably damaging |
Het |
| Gm12886 |
T |
C |
4: 121,273,880 (GRCm39) |
E112G |
probably damaging |
Het |
| Gm7535 |
T |
C |
17: 18,131,345 (GRCm39) |
|
probably benign |
Het |
| Irf2bp2 |
T |
A |
8: 127,317,994 (GRCm39) |
Q524L |
probably damaging |
Het |
| Itih4 |
A |
G |
14: 30,622,925 (GRCm39) |
D864G |
probably benign |
Het |
| Kdm4c |
T |
G |
4: 74,275,576 (GRCm39) |
|
probably null |
Het |
| Ltn1 |
A |
T |
16: 87,198,912 (GRCm39) |
|
probably null |
Het |
| Mafa |
G |
T |
15: 75,619,585 (GRCm39) |
P63T |
unknown |
Het |
| Mars2 |
T |
A |
1: 55,277,021 (GRCm39) |
L208H |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,156,459 (GRCm39) |
I769V |
probably benign |
Het |
| Nyap1 |
A |
G |
5: 137,734,284 (GRCm39) |
S250P |
probably damaging |
Het |
| Or8k35 |
A |
T |
2: 86,424,572 (GRCm39) |
M200K |
probably benign |
Het |
| Osmr |
C |
T |
15: 6,872,375 (GRCm39) |
V240I |
probably benign |
Het |
| Pcdhga3 |
A |
G |
18: 37,809,934 (GRCm39) |
T796A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,725,519 (GRCm39) |
V1459A |
unknown |
Het |
| Phactr3 |
A |
C |
2: 177,924,965 (GRCm39) |
H300P |
probably damaging |
Het |
| Pla2g4e |
T |
G |
2: 120,016,863 (GRCm39) |
H226P |
possibly damaging |
Het |
| Plcd4 |
T |
A |
1: 74,587,383 (GRCm39) |
W48R |
probably damaging |
Het |
| Prdm16 |
A |
G |
4: 154,407,810 (GRCm39) |
S1140P |
probably damaging |
Het |
| Rarg |
A |
C |
15: 102,160,986 (GRCm39) |
S18A |
possibly damaging |
Het |
| Rfx4 |
T |
A |
10: 84,680,164 (GRCm39) |
S114T |
possibly damaging |
Het |
| Sec14l4 |
G |
A |
11: 3,993,375 (GRCm39) |
|
probably null |
Het |
| Six1 |
T |
G |
12: 73,092,708 (GRCm39) |
T165P |
probably benign |
Het |
| Skint4 |
T |
C |
4: 111,944,239 (GRCm39) |
L17P |
probably damaging |
Het |
| Slc25a23 |
T |
A |
17: 57,359,740 (GRCm39) |
Y337F |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,312,284 (GRCm39) |
Y627C |
probably damaging |
Het |
| Smu1 |
A |
C |
4: 40,737,401 (GRCm39) |
|
probably null |
Het |
| Spryd3 |
A |
G |
15: 102,038,799 (GRCm39) |
S141P |
probably damaging |
Het |
| Src |
A |
T |
2: 157,304,958 (GRCm39) |
N175I |
probably damaging |
Het |
| Srcap |
GCTCCTCCTCCTCCTCCT |
GCTCCTCCTCCTCCT |
7: 127,157,482 (GRCm39) |
|
probably benign |
Het |
| Stc2 |
A |
G |
11: 31,315,326 (GRCm39) |
|
probably null |
Het |
| Taf6l |
T |
C |
19: 8,755,572 (GRCm39) |
D261G |
probably damaging |
Het |
| Tal1 |
T |
G |
4: 114,921,919 (GRCm39) |
V167G |
probably damaging |
Het |
| Tfec |
G |
A |
6: 16,834,124 (GRCm39) |
T261I |
probably damaging |
Het |
| Tgfb1 |
G |
T |
7: 25,396,655 (GRCm39) |
S273I |
possibly damaging |
Het |
| Tmem8b |
T |
A |
4: 43,685,760 (GRCm39) |
V636E |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,946,380 (GRCm39) |
M1084K |
probably damaging |
Het |
| Trem3 |
A |
C |
17: 48,556,639 (GRCm39) |
T37P |
possibly damaging |
Het |
| Ttc7b |
G |
A |
12: 100,466,376 (GRCm39) |
R79C |
probably damaging |
Het |
| Urb1 |
T |
C |
16: 90,585,034 (GRCm39) |
D529G |
probably benign |
Het |
| Vmn2r8 |
T |
A |
5: 108,949,570 (GRCm39) |
T426S |
probably benign |
Het |
| Yipf4 |
T |
C |
17: 74,806,089 (GRCm39) |
Y243H |
probably benign |
Het |
| Zfp574 |
T |
A |
7: 24,780,738 (GRCm39) |
C587S |
probably damaging |
Het |
| Zfp93 |
C |
A |
7: 23,975,093 (GRCm39) |
H359Q |
probably damaging |
Het |
| Znfx1 |
T |
C |
2: 166,892,236 (GRCm39) |
E660G |
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 |
|
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'- CTGTGTTCATTACGTGAGGCAC -3'
(R):5'- CTGAAATGGGACCGGCTATG -3'
Sequencing Primer
(F):5'- CATTACGTGAGGCACATTGC -3'
(R):5'- GGCGGAAATGAAGCCCCAC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation