Incidental Mutation 'R5435:3425401B19Rik'
| ID |
428288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
3425401B19Rik
|
| Ensembl Gene |
ENSMUSG00000071540 |
| Gene Name |
RIKEN cDNA 3425401B19 gene |
| Synonyms |
|
| MMRRC Submission |
043000-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R5435 (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 32383413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 851
(F851L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096038]
|
| AlphaFold |
D3Z1D3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096038
AA Change: F851L
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000093741
Gene: ENSMUSG00000071540
AA Change: F851L
| 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 |
0.1953 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
C |
T |
17: 24,486,588 (GRCm39) |
V1480I |
possibly damaging |
Het |
| Acsbg1 |
G |
T |
9: 54,523,153 (GRCm39) |
Y491* |
probably null |
Het |
| Acsf3 |
T |
A |
8: 123,507,020 (GRCm39) |
N104K |
probably damaging |
Het |
| Adam23 |
T |
C |
1: 63,585,612 (GRCm39) |
Y400H |
possibly damaging |
Het |
| Adgra3 |
G |
A |
5: 50,147,468 (GRCm39) |
T524M |
probably damaging |
Het |
| Aff1 |
G |
A |
5: 103,902,198 (GRCm39) |
|
probably benign |
Het |
| Anxa9 |
T |
C |
3: 95,204,561 (GRCm39) |
Y321C |
probably damaging |
Het |
| Ap1g1 |
T |
A |
8: 110,565,552 (GRCm39) |
Y329N |
probably damaging |
Het |
| Aph1c |
A |
T |
9: 66,741,783 (GRCm39) |
I33N |
possibly damaging |
Het |
| B3galnt2 |
A |
G |
13: 14,171,575 (GRCm39) |
E491G |
probably benign |
Het |
| Bdh1 |
C |
T |
16: 31,275,475 (GRCm39) |
R235C |
probably damaging |
Het |
| Ccar2 |
A |
G |
14: 70,376,776 (GRCm39) |
L856P |
probably damaging |
Het |
| Ccdc107 |
A |
T |
4: 43,493,519 (GRCm39) |
D30V |
probably damaging |
Het |
| Ccdc116 |
G |
T |
16: 16,960,626 (GRCm39) |
H64N |
probably benign |
Het |
| Ccl12 |
T |
C |
11: 81,994,001 (GRCm39) |
I86T |
possibly damaging |
Het |
| Col2a1 |
T |
C |
15: 97,898,391 (GRCm39) |
|
probably benign |
Het |
| Col4a4 |
T |
A |
1: 82,431,728 (GRCm39) |
I1519F |
unknown |
Het |
| Ddx19b |
T |
C |
8: 111,735,458 (GRCm39) |
Q416R |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,037,121 (GRCm39) |
M3374L |
probably benign |
Het |
| Dnajc6 |
A |
T |
4: 101,463,807 (GRCm39) |
I119F |
probably damaging |
Het |
| Ensa |
C |
A |
3: 95,529,769 (GRCm39) |
|
probably benign |
Het |
| Fbxo4 |
C |
T |
15: 3,995,274 (GRCm39) |
V357I |
possibly damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Foxf1 |
G |
A |
8: 121,811,231 (GRCm39) |
G32S |
probably damaging |
Het |
| Gls2 |
G |
A |
10: 128,030,995 (GRCm39) |
|
probably benign |
Het |
| Gm13599 |
T |
A |
2: 67,226,496 (GRCm39) |
|
noncoding transcript |
Het |
| Gmnn |
A |
G |
13: 24,936,084 (GRCm39) |
S197P |
probably benign |
Het |
| Guf1 |
A |
T |
5: 69,720,512 (GRCm39) |
H324L |
probably benign |
Het |
| H2-Q6 |
A |
G |
17: 35,644,661 (GRCm39) |
D150G |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,832,791 (GRCm39) |
L152Q |
probably damaging |
Het |
| Hnrnpul2 |
T |
G |
19: 8,797,682 (GRCm39) |
S13A |
probably benign |
Het |
| Ighv5-4 |
A |
G |
12: 113,561,283 (GRCm39) |
F46L |
probably benign |
Het |
| Kank1 |
T |
G |
19: 25,388,507 (GRCm39) |
S727A |
probably benign |
Het |
| Kcnma1 |
A |
T |
14: 23,578,472 (GRCm39) |
Y201* |
probably null |
Het |
| Lyst |
A |
T |
13: 13,951,649 (GRCm39) |
H3750L |
possibly damaging |
Het |
| Mettl25 |
A |
G |
10: 105,615,447 (GRCm39) |
|
probably null |
Het |
| Mpdz |
A |
G |
4: 81,201,724 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
C |
T |
15: 77,653,809 (GRCm39) |
V1280I |
probably benign |
Het |
| Neto1 |
A |
T |
18: 86,416,388 (GRCm39) |
T32S |
probably benign |
Het |
| Nol7 |
C |
A |
13: 43,554,848 (GRCm39) |
H187Q |
possibly damaging |
Het |
| Or5ak22 |
T |
A |
2: 85,230,814 (GRCm39) |
N21I |
probably benign |
Het |
| Pcdha8 |
A |
G |
18: 37,126,652 (GRCm39) |
D378G |
probably damaging |
Het |
| Peak1 |
A |
G |
9: 56,113,770 (GRCm39) |
S694P |
probably damaging |
Het |
| Pih1d1 |
T |
A |
7: 44,805,696 (GRCm39) |
|
probably null |
Het |
| Pik3c2g |
T |
G |
6: 139,661,581 (GRCm39) |
|
probably null |
Het |
| Prkar2a |
A |
G |
9: 108,617,682 (GRCm39) |
R247G |
probably damaging |
Het |
| Psg26 |
A |
G |
7: 18,212,398 (GRCm39) |
I319T |
possibly damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Rasa3 |
T |
C |
8: 13,681,811 (GRCm39) |
E46G |
possibly damaging |
Het |
| Rbbp5 |
T |
A |
1: 132,422,013 (GRCm39) |
H304Q |
probably damaging |
Het |
| Relch |
T |
A |
1: 105,668,975 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,103,878 (GRCm39) |
E1783V |
probably damaging |
Het |
| Stag1 |
A |
G |
9: 100,835,603 (GRCm39) |
N151S |
probably benign |
Het |
| Tbc1d32 |
C |
A |
10: 55,916,246 (GRCm39) |
A1191S |
probably damaging |
Het |
| Tchh |
C |
A |
3: 93,350,979 (GRCm39) |
R140S |
possibly damaging |
Het |
| Trank1 |
A |
G |
9: 111,220,958 (GRCm39) |
Y2565C |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,744,702 (GRCm39) |
V5449D |
probably damaging |
Het |
| Tubgcp2 |
G |
A |
7: 139,575,985 (GRCm39) |
P893S |
possibly damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,742,268 (GRCm39) |
F2325S |
probably damaging |
Het |
| Wdr35 |
A |
G |
12: 9,039,951 (GRCm39) |
D352G |
probably benign |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Ypel3 |
A |
G |
7: 126,374,960 (GRCm39) |
|
probably benign |
Het |
| Zan |
T |
A |
5: 137,402,024 (GRCm39) |
T4023S |
unknown |
Het |
| Zfp735 |
T |
A |
11: 73,602,939 (GRCm39) |
C628S |
possibly 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 |
|
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'- GGCACGTCGTTATTGGAGAG -3'
(R):5'- GTGCCTCACGTAATGAACACAG -3'
Sequencing Primer
(F):5'- AGAGTGGGGTGTTAGGCATTTC -3'
(R):5'- CCTCACGTAATGAACACAGAGGTG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation