Incidental Mutation 'PIT4515001:3425401B19Rik'
| ID |
556337 |
| 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 # |
PIT4515001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
32381076-32407250 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 32383068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 966
(R966*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096038]
|
| AlphaFold |
D3Z1D3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000096038
AA Change: R966*
|
| SMART Domains |
Protein: ENSMUSP00000093741
Gene: ENSMUSG00000071540
AA Change: R966*
| 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: 93.4%
- 3x: 91.0%
- 10x: 86.0%
- 20x: 75.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,404,342 (GRCm39) |
I221K |
possibly damaging |
Het |
| Adcy6 |
T |
C |
15: 98,493,027 (GRCm39) |
T880A |
probably benign |
Het |
| Agpat5 |
T |
A |
8: 18,896,657 (GRCm39) |
Y28N |
probably damaging |
Het |
| Atg2a |
A |
G |
19: 6,303,615 (GRCm39) |
I1125V |
probably damaging |
Het |
| B4galt6 |
A |
G |
18: 20,821,524 (GRCm39) |
Y335H |
probably benign |
Het |
| Bend3 |
A |
T |
10: 43,386,630 (GRCm39) |
E341V |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,028,385 (GRCm39) |
Y2351N |
probably damaging |
Het |
| Ccdc136 |
T |
A |
6: 29,417,225 (GRCm39) |
V682E |
probably benign |
Het |
| Ccdc142 |
T |
C |
6: 83,080,238 (GRCm39) |
C394R |
probably benign |
Het |
| Cfap58 |
A |
G |
19: 48,023,122 (GRCm39) |
N845D |
probably benign |
Het |
| Col4a3 |
G |
A |
1: 82,660,024 (GRCm39) |
G890R |
unknown |
Het |
| Cyp1a2 |
C |
A |
9: 57,589,242 (GRCm39) |
V191L |
probably benign |
Het |
| Cyp51 |
A |
T |
5: 4,149,122 (GRCm39) |
|
probably null |
Het |
| Diras2 |
T |
C |
13: 52,661,783 (GRCm39) |
S175G |
possibly damaging |
Het |
| Dnah6 |
A |
G |
6: 73,091,565 (GRCm39) |
F2242S |
probably damaging |
Het |
| Erg |
T |
A |
16: 95,210,619 (GRCm39) |
N78Y |
probably benign |
Het |
| Fdft1 |
T |
A |
14: 63,402,032 (GRCm39) |
Q49L |
probably benign |
Het |
| Frem1 |
G |
T |
4: 82,818,663 (GRCm39) |
H2183Q |
probably damaging |
Het |
| Fut2 |
G |
A |
7: 45,299,890 (GRCm39) |
T294I |
probably damaging |
Het |
| Gabrb1 |
A |
C |
5: 71,858,160 (GRCm39) |
D62A |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,238,004 (GRCm39) |
Y263* |
probably null |
Het |
| Gimap6 |
T |
C |
6: 48,679,502 (GRCm39) |
D178G |
probably benign |
Het |
| Gss |
T |
A |
2: 155,420,261 (GRCm39) |
T147S |
probably damaging |
Het |
| Hlcs |
A |
T |
16: 94,068,275 (GRCm39) |
V315E |
probably benign |
Het |
| Hoxa3 |
C |
T |
6: 52,147,164 (GRCm39) |
G363E |
unknown |
Het |
| Ift140 |
A |
G |
17: 25,305,834 (GRCm39) |
N807S |
probably damaging |
Het |
| Iglc1 |
T |
G |
16: 18,880,701 (GRCm39) |
D40A |
|
Het |
| Itga10 |
T |
A |
3: 96,569,948 (GRCm39) |
I1120N |
probably damaging |
Het |
| Jak3 |
T |
C |
8: 72,132,286 (GRCm39) |
V217A |
probably benign |
Het |
| Kank2 |
T |
G |
9: 21,706,179 (GRCm39) |
I280L |
probably benign |
Het |
| Kcnk1 |
G |
T |
8: 126,752,081 (GRCm39) |
G229V |
probably damaging |
Het |
| Kpna7 |
T |
C |
5: 144,941,862 (GRCm39) |
T143A |
probably benign |
Het |
| Letmd1 |
C |
T |
15: 100,374,683 (GRCm39) |
R310C |
probably damaging |
Het |
| Mga |
G |
A |
2: 119,746,985 (GRCm39) |
V379I |
probably damaging |
Het |
| Mto1 |
T |
A |
9: 78,364,699 (GRCm39) |
Y313N |
probably damaging |
Het |
| Muc5ac |
G |
A |
7: 141,361,153 (GRCm39) |
C1488Y |
probably damaging |
Het |
| Nde1 |
T |
A |
16: 13,988,357 (GRCm39) |
|
probably null |
Het |
| Nfatc3 |
T |
C |
8: 106,805,835 (GRCm39) |
S235P |
possibly damaging |
Het |
| Nup88 |
T |
C |
11: 70,835,547 (GRCm39) |
D602G |
probably benign |
Het |
| Or11g25 |
T |
A |
14: 50,723,536 (GRCm39) |
M207K |
probably benign |
Het |
| Or2h1b |
A |
C |
17: 37,462,270 (GRCm39) |
S198A |
probably benign |
Het |
| Pcnx1 |
G |
A |
12: 82,038,561 (GRCm39) |
C1309Y |
|
Het |
| Phldb1 |
A |
G |
9: 44,627,257 (GRCm39) |
I396T |
probably benign |
Het |
| Pramel38 |
T |
C |
5: 94,368,831 (GRCm39) |
M442T |
probably benign |
Het |
| Pramel41 |
A |
C |
5: 94,594,694 (GRCm39) |
K185Q |
probably benign |
Het |
| Prss53 |
G |
A |
7: 127,487,963 (GRCm39) |
T173I |
probably benign |
Het |
| Ptpn11 |
C |
A |
5: 121,302,617 (GRCm39) |
D156Y |
probably damaging |
Het |
| Rfx8 |
A |
G |
1: 39,729,265 (GRCm39) |
Y167H |
probably benign |
Het |
| Rpsa |
T |
A |
9: 119,960,214 (GRCm39) |
I259N |
probably benign |
Het |
| Rrm2b |
G |
T |
15: 37,947,048 (GRCm39) |
D84E |
probably benign |
Het |
| Scgb2b19 |
A |
T |
7: 32,979,036 (GRCm39) |
|
probably null |
Het |
| Sik3 |
T |
C |
9: 46,120,029 (GRCm39) |
L706P |
probably damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,281,112 (GRCm39) |
E426D |
probably damaging |
Het |
| Slc8a2 |
C |
A |
7: 15,874,504 (GRCm39) |
L251I |
possibly damaging |
Het |
| Taf6 |
T |
C |
5: 138,180,504 (GRCm39) |
K287E |
probably benign |
Het |
| Tiam1 |
G |
A |
16: 89,657,130 (GRCm39) |
T702I |
probably damaging |
Het |
| Tle1 |
A |
T |
4: 72,117,556 (GRCm39) |
F35I |
possibly damaging |
Het |
| Tle2 |
A |
G |
10: 81,422,964 (GRCm39) |
Q454R |
possibly damaging |
Het |
| Tsc2 |
T |
C |
17: 24,840,121 (GRCm39) |
N425S |
probably benign |
Het |
| Utp3 |
A |
G |
5: 88,702,564 (GRCm39) |
D31G |
probably benign |
Het |
| Vmn1r173 |
A |
T |
7: 23,401,911 (GRCm39) |
R49* |
probably null |
Het |
| Ybx2 |
T |
A |
11: 69,831,224 (GRCm39) |
V273E |
probably benign |
Het |
| Zbtb22 |
G |
A |
17: 34,137,672 (GRCm39) |
A606T |
probably benign |
Het |
| Zcchc8 |
A |
T |
5: 123,838,995 (GRCm39) |
D514E |
probably benign |
Het |
| Zfy2 |
T |
A |
Y: 2,117,096 (GRCm39) |
I244F |
probably benign |
Het |
| Zglp1 |
T |
C |
9: 20,977,485 (GRCm39) |
N110S |
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 |
|
|
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 |
|
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'- AAGCCTTCTTCCAGACGGTC -3'
(R):5'- CGGCCTTAGTGCTTCAGAAAG -3'
Sequencing Primer
(F):5'- AAGTGGCCTTTGAAACCTTGTTC -3'
(R):5'- TTCAGAAAGCCAAGAAATGCC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation