Incidental Mutation 'R4925:3425401B19Rik'
| ID |
378985 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
3425401B19Rik
|
| Ensembl Gene |
ENSMUSG00000071540 |
| Gene Name |
RIKEN cDNA 3425401B19 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R4925 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
32381076-32407250 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32385137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 276
(H276L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096038]
|
| AlphaFold |
D3Z1D3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096038
AA Change: H276L
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000093741
Gene: ENSMUSG00000071540
AA Change: H276L
| 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
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 87.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
T |
A |
11: 58,316,540 (GRCm39) |
C173* |
probably null |
Het |
| Adam21 |
T |
G |
12: 81,607,163 (GRCm39) |
M200L |
probably benign |
Het |
| Adamts3 |
A |
T |
5: 89,832,182 (GRCm39) |
S974T |
probably benign |
Het |
| Adamtsl3 |
T |
A |
7: 82,251,507 (GRCm39) |
|
probably null |
Het |
| Atp8b2 |
A |
G |
3: 89,853,930 (GRCm39) |
|
probably null |
Het |
| Brd8 |
T |
C |
18: 34,740,388 (GRCm39) |
T552A |
probably benign |
Het |
| Btaf1 |
A |
G |
19: 36,988,733 (GRCm39) |
S1826G |
probably benign |
Het |
| Ccdc163 |
A |
G |
4: 116,568,528 (GRCm39) |
E77G |
possibly damaging |
Het |
| Ces2g |
A |
G |
8: 105,691,526 (GRCm39) |
R194G |
probably benign |
Het |
| Cip2a |
T |
C |
16: 48,836,726 (GRCm39) |
|
probably null |
Het |
| Cln8 |
A |
G |
8: 14,945,004 (GRCm39) |
H106R |
possibly damaging |
Het |
| Col12a1 |
T |
G |
9: 79,582,077 (GRCm39) |
L1391F |
probably damaging |
Het |
| Col16a1 |
G |
A |
4: 129,947,969 (GRCm39) |
D230N |
probably damaging |
Het |
| Crhbp |
C |
A |
13: 95,580,318 (GRCm39) |
G87V |
possibly damaging |
Het |
| Cyp3a16 |
C |
T |
5: 145,389,644 (GRCm39) |
M240I |
probably benign |
Het |
| Cyp4a14 |
A |
T |
4: 115,353,133 (GRCm39) |
W60R |
possibly damaging |
Het |
| Fam47e |
A |
G |
5: 92,733,149 (GRCm39) |
Y304C |
probably damaging |
Het |
| Fgfbp1 |
A |
T |
5: 44,136,634 (GRCm39) |
D219E |
probably damaging |
Het |
| Fgfr2 |
A |
T |
7: 129,787,002 (GRCm39) |
Y485N |
probably damaging |
Het |
| Fhdc1 |
C |
T |
3: 84,360,840 (GRCm39) |
V363M |
probably damaging |
Het |
| Foxb1 |
T |
A |
9: 69,667,437 (GRCm39) |
E31V |
probably damaging |
Het |
| Galnt9 |
T |
C |
5: 110,692,605 (GRCm39) |
V13A |
possibly damaging |
Het |
| Ghrl |
T |
C |
6: 113,693,218 (GRCm39) |
D77G |
probably damaging |
Het |
| Gpr85 |
A |
G |
6: 13,835,977 (GRCm39) |
V309A |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,731,472 (GRCm39) |
Y1622C |
probably damaging |
Het |
| Greb1l |
T |
A |
18: 10,547,447 (GRCm39) |
M1555K |
possibly damaging |
Het |
| Grin2a |
T |
A |
16: 9,487,687 (GRCm39) |
N404Y |
probably damaging |
Het |
| Gtpbp1 |
A |
C |
15: 79,600,169 (GRCm39) |
I399L |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,460,753 (GRCm39) |
S911P |
possibly damaging |
Het |
| Igkc |
A |
T |
6: 70,703,520 (GRCm39) |
K34* |
probably null |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Iqgap1 |
T |
A |
7: 80,415,065 (GRCm39) |
I149F |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,101,309 (GRCm39) |
A1934V |
probably benign |
Het |
| Lrp1 |
C |
A |
10: 127,410,944 (GRCm39) |
E1415* |
probably null |
Het |
| Lypd8l |
T |
A |
11: 58,501,513 (GRCm39) |
T157S |
probably damaging |
Het |
| Macf1 |
A |
C |
4: 123,420,445 (GRCm39) |
C270G |
probably benign |
Het |
| Marveld3 |
A |
G |
8: 110,674,943 (GRCm39) |
V291A |
probably benign |
Het |
| Med23 |
T |
C |
10: 24,786,645 (GRCm39) |
F917S |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Ncan |
A |
T |
8: 70,562,604 (GRCm39) |
D551E |
probably benign |
Het |
| Or1e23 |
A |
T |
11: 73,407,998 (GRCm39) |
I9N |
possibly damaging |
Het |
| Or4x6 |
T |
A |
2: 89,949,121 (GRCm39) |
T274S |
probably damaging |
Het |
| Or52h2 |
T |
C |
7: 103,839,387 (GRCm39) |
Y9C |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pla2g12a |
T |
C |
3: 129,672,467 (GRCm39) |
W34R |
probably damaging |
Het |
| Plekha7 |
A |
G |
7: 115,757,363 (GRCm39) |
F529S |
probably damaging |
Het |
| Potefam1 |
T |
C |
2: 111,048,961 (GRCm39) |
K273E |
probably benign |
Het |
| Ppl |
T |
A |
16: 4,922,846 (GRCm39) |
D215V |
probably damaging |
Het |
| Pramel15 |
A |
T |
4: 144,104,502 (GRCm39) |
M1K |
probably null |
Het |
| Prdm1 |
T |
A |
10: 44,316,165 (GRCm39) |
Y690F |
probably damaging |
Het |
| Prkcd |
T |
A |
14: 30,329,570 (GRCm39) |
D124V |
probably damaging |
Het |
| Ptprc |
C |
A |
1: 138,027,235 (GRCm39) |
D538Y |
probably benign |
Het |
| Rasl10b |
G |
A |
11: 83,303,505 (GRCm39) |
V21M |
probably damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,688,023 (GRCm39) |
Y657F |
probably benign |
Het |
| Rrn3 |
T |
C |
16: 13,617,836 (GRCm39) |
C360R |
probably damaging |
Het |
| Scarb1 |
T |
C |
5: 125,374,363 (GRCm39) |
T257A |
probably damaging |
Het |
| Serpinb2 |
T |
A |
1: 107,443,219 (GRCm39) |
M6K |
probably benign |
Het |
| Slco4a1 |
T |
C |
2: 180,113,849 (GRCm39) |
Y429H |
probably benign |
Het |
| St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
| Taar3 |
T |
A |
10: 23,826,441 (GRCm39) |
F329Y |
probably damaging |
Het |
| Tardbp |
A |
T |
4: 148,703,108 (GRCm39) |
N285K |
probably benign |
Het |
| Tcstv7b |
A |
G |
13: 120,702,384 (GRCm39) |
Y60C |
probably damaging |
Het |
| Tnni2 |
A |
T |
7: 141,996,430 (GRCm39) |
E4V |
probably benign |
Het |
| Tnpo2 |
A |
T |
8: 85,776,654 (GRCm39) |
I454F |
probably damaging |
Het |
| Tpr |
T |
G |
1: 150,308,316 (GRCm39) |
H1690Q |
probably benign |
Het |
| Trav18 |
T |
C |
14: 54,068,577 (GRCm39) |
S6P |
probably benign |
Het |
| Trf |
T |
C |
9: 103,096,445 (GRCm39) |
N25S |
probably benign |
Het |
| Vmn1r59 |
T |
C |
7: 5,457,115 (GRCm39) |
N215S |
probably benign |
Het |
| Vmn2r2 |
T |
C |
3: 64,044,892 (GRCm39) |
M1V |
probably null |
Het |
| Wdr64 |
T |
C |
1: 175,552,268 (GRCm39) |
|
probably null |
Het |
| Wdr73 |
T |
C |
7: 80,542,943 (GRCm39) |
S222G |
probably benign |
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 |
|
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'- ATGTGGATTGGCTCCCTGAC -3'
(R):5'- GCTCCTGGAGAACAAGAGTC -3'
Sequencing Primer
(F):5'- TTCCTGGGCACAGTTAGCTCG -3'
(R):5'- CTGGAGAACAAGAGTCTCCCAAG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation