Incidental Mutation 'R9766:3425401B19Rik'
| ID |
733297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
3425401B19Rik
|
| Ensembl Gene |
ENSMUSG00000071540 |
| Gene Name |
RIKEN cDNA 3425401B19 gene |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R9766 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
32381076-32407250 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32385788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 59
(V59A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096038]
|
| AlphaFold |
D3Z1D3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096038
AA Change: V59A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000093741
Gene: ENSMUSG00000071540
AA Change: V59A
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
T |
11: 119,902,565 (GRCm39) |
H610Q |
probably benign |
Het |
| Acox1 |
G |
A |
11: 116,071,867 (GRCm39) |
A187V |
probably damaging |
Het |
| Acsbg3 |
A |
G |
17: 57,189,177 (GRCm39) |
Y195C |
probably benign |
Het |
| AI661453 |
C |
T |
17: 47,757,570 (GRCm39) |
R76W |
probably damaging |
Het |
| Anapc1 |
C |
T |
2: 128,500,221 (GRCm39) |
R808Q |
probably damaging |
Het |
| Ankrd26 |
T |
C |
6: 118,500,067 (GRCm39) |
T1135A |
possibly damaging |
Het |
| Arhgap17 |
A |
G |
7: 122,921,148 (GRCm39) |
V113A |
probably benign |
Het |
| Art3 |
T |
C |
5: 92,562,138 (GRCm39) |
C379R |
unknown |
Het |
| Bltp3a |
T |
C |
17: 28,105,799 (GRCm39) |
L775P |
probably damaging |
Het |
| Bmp5 |
A |
G |
9: 75,800,982 (GRCm39) |
I371V |
probably damaging |
Het |
| Ccdc88b |
T |
A |
19: 6,833,096 (GRCm39) |
E281V |
probably damaging |
Het |
| Ces1e |
A |
T |
8: 93,946,031 (GRCm39) |
Y171N |
probably damaging |
Het |
| Cib3 |
A |
T |
8: 72,961,034 (GRCm39) |
F68I |
possibly damaging |
Het |
| Crtac1 |
A |
T |
19: 42,402,557 (GRCm39) |
L17Q |
possibly damaging |
Het |
| Crybg3 |
A |
T |
16: 59,376,207 (GRCm39) |
S1682R |
probably benign |
Het |
| Ddx60 |
G |
A |
8: 62,465,312 (GRCm39) |
G1323D |
probably damaging |
Het |
| Dock3 |
A |
C |
9: 106,788,483 (GRCm39) |
D161E |
probably benign |
Het |
| Dpep3 |
A |
C |
8: 106,705,369 (GRCm39) |
L127R |
probably damaging |
Het |
| Dus2 |
A |
G |
8: 106,772,568 (GRCm39) |
D226G |
probably damaging |
Het |
| Ebna1bp2 |
T |
C |
4: 118,480,821 (GRCm39) |
V184A |
possibly damaging |
Het |
| Edem1 |
T |
A |
6: 108,823,648 (GRCm39) |
I348N |
probably damaging |
Het |
| Efcab8 |
A |
T |
2: 153,656,362 (GRCm39) |
M599L |
unknown |
Het |
| Eif2ak4 |
A |
T |
2: 118,261,313 (GRCm39) |
K618* |
probably null |
Het |
| Fbxw27 |
T |
C |
9: 109,602,215 (GRCm39) |
K253E |
possibly damaging |
Het |
| Fgf5 |
A |
G |
5: 98,423,113 (GRCm39) |
E166G |
possibly damaging |
Het |
| Flot1 |
G |
T |
17: 36,141,555 (GRCm39) |
E321* |
probably null |
Het |
| Gm14443 |
T |
C |
2: 175,012,248 (GRCm39) |
E66G |
probably benign |
Het |
| Gprc6a |
G |
A |
10: 51,491,884 (GRCm39) |
P622S |
probably damaging |
Het |
| Gsta2 |
A |
T |
9: 78,244,876 (GRCm39) |
Y79* |
probably null |
Het |
| Hecw2 |
A |
G |
1: 53,904,287 (GRCm39) |
S1154P |
probably damaging |
Het |
| Hrob |
A |
T |
11: 102,146,586 (GRCm39) |
Q287H |
possibly damaging |
Het |
| Kcnd2 |
T |
C |
6: 21,216,367 (GRCm39) |
S24P |
probably benign |
Het |
| Knl1 |
A |
G |
2: 118,900,381 (GRCm39) |
D694G |
probably damaging |
Het |
| L1td1 |
T |
C |
4: 98,624,753 (GRCm39) |
I316T |
probably benign |
Het |
| Lrsam1 |
G |
T |
2: 32,818,077 (GRCm39) |
Q660K |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,548,153 (GRCm39) |
T6047S |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,552,383 (GRCm39) |
T4637S |
probably benign |
Het |
| Myo5a |
T |
C |
9: 75,078,914 (GRCm39) |
Y891H |
probably damaging |
Het |
| Nkd2 |
G |
T |
13: 73,995,131 (GRCm39) |
D22E |
possibly damaging |
Het |
| Patl2 |
A |
T |
2: 121,954,212 (GRCm39) |
V453E |
probably damaging |
Het |
| Pcnx2 |
A |
G |
8: 126,488,313 (GRCm39) |
Y1744H |
probably damaging |
Het |
| Phf8-ps |
T |
G |
17: 33,285,647 (GRCm39) |
N385T |
probably damaging |
Het |
| Pira2 |
T |
A |
7: 3,845,517 (GRCm39) |
H289L |
possibly damaging |
Het |
| Pitpnm1 |
T |
C |
19: 4,158,117 (GRCm39) |
I569T |
probably benign |
Het |
| Ppp4r4 |
T |
C |
12: 103,562,735 (GRCm39) |
V568A |
probably benign |
Het |
| Ptf1a |
G |
A |
2: 19,451,062 (GRCm39) |
G131S |
probably benign |
Het |
| Rasgrf2 |
G |
T |
13: 92,160,188 (GRCm39) |
H396N |
probably damaging |
Het |
| Rfx1 |
C |
T |
8: 84,814,376 (GRCm39) |
T315M |
probably damaging |
Het |
| Rnf207 |
C |
A |
4: 152,400,402 (GRCm39) |
R148L |
probably damaging |
Het |
| Scn11a |
T |
G |
9: 119,584,181 (GRCm39) |
N1478T |
probably damaging |
Het |
| Sdr39u1 |
C |
T |
14: 56,135,194 (GRCm39) |
V250I |
probably benign |
Het |
| Serinc3 |
T |
C |
2: 163,471,095 (GRCm39) |
T276A |
probably damaging |
Het |
| Speer4a3 |
AACT |
A |
5: 26,155,849 (GRCm39) |
|
probably benign |
Het |
| Stambp |
C |
A |
6: 83,534,469 (GRCm39) |
A273S |
probably benign |
Het |
| Taf2 |
T |
C |
15: 54,910,881 (GRCm39) |
|
probably null |
Het |
| Tex26 |
A |
T |
5: 149,386,642 (GRCm39) |
Y232F |
probably damaging |
Het |
| Tmem258 |
T |
C |
19: 10,184,578 (GRCm39) |
L55P |
probably damaging |
Het |
| Trappc8 |
A |
G |
18: 20,979,630 (GRCm39) |
I755T |
possibly damaging |
Het |
| Ubr4 |
T |
C |
4: 139,194,595 (GRCm39) |
Y1163H |
unknown |
Het |
| Usp14 |
G |
A |
18: 10,005,630 (GRCm39) |
T254I |
probably benign |
Het |
| Vcan |
A |
G |
13: 89,839,247 (GRCm39) |
L2099P |
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,042,866 (GRCm39) |
V1962I |
possibly damaging |
Het |
| Zfp407 |
T |
C |
18: 84,577,574 (GRCm39) |
T1180A |
probably benign |
Het |
| Zfp644 |
C |
A |
5: 106,784,691 (GRCm39) |
G619C |
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 |
|
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 |
|
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'- GCTCCTCAAGCCTGAAATGG -3'
(R):5'- CGGAAGCTGACAGATGATGC -3'
Sequencing Primer
(F):5'- AGTCTCCTCTGGACTGGGG -3'
(R):5'- CTGACAGATGATGCAGGGAAAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation