Incidental Mutation 'R7493:3425401B19Rik'
| ID |
580957 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
3425401B19Rik
|
| Ensembl Gene |
ENSMUSG00000071540 |
| Gene Name |
RIKEN cDNA 3425401B19 gene |
| Synonyms |
|
| MMRRC Submission |
045567-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R7493 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
32381076-32407250 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32385257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 236
(L236P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096038]
|
| AlphaFold |
D3Z1D3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096038
AA Change: L236P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000093741
Gene: ENSMUSG00000071540
AA Change: L236P
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (74/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
A |
10: 79,837,896 (GRCm39) |
D488E |
probably damaging |
Het |
| Adora2a |
A |
G |
10: 75,169,423 (GRCm39) |
K296E |
possibly damaging |
Het |
| Aopep |
A |
G |
13: 63,163,345 (GRCm39) |
D122G |
probably benign |
Het |
| Atp13a4 |
T |
A |
16: 29,290,774 (GRCm39) |
E225V |
|
Het |
| Bpifb2 |
A |
G |
2: 153,731,397 (GRCm39) |
M258V |
possibly damaging |
Het |
| Brd2 |
G |
A |
17: 34,341,231 (GRCm39) |
|
probably benign |
Het |
| Btaf1 |
G |
T |
19: 36,987,005 (GRCm39) |
V1700F |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,076,433 (GRCm39) |
I797V |
|
Het |
| Ccdc148 |
T |
G |
2: 58,899,160 (GRCm39) |
E71A |
probably damaging |
Het |
| Ccdc18 |
T |
A |
5: 108,354,483 (GRCm39) |
L1074* |
probably null |
Het |
| Ccne2 |
A |
G |
4: 11,198,772 (GRCm39) |
D215G |
probably damaging |
Het |
| Cers6 |
T |
A |
2: 68,692,151 (GRCm39) |
|
probably null |
Het |
| Copz1 |
A |
G |
15: 103,204,971 (GRCm39) |
E110G |
probably damaging |
Het |
| Cped1 |
A |
T |
6: 22,215,512 (GRCm39) |
D682V |
probably damaging |
Het |
| Crb1 |
A |
T |
1: 139,164,768 (GRCm39) |
C1180S |
probably damaging |
Het |
| Cyren |
A |
T |
6: 34,851,593 (GRCm39) |
L114Q |
probably damaging |
Het |
| Echdc3 |
A |
T |
2: 6,194,368 (GRCm39) |
L229Q |
probably damaging |
Het |
| Etfb |
C |
T |
7: 43,104,000 (GRCm39) |
P145L |
probably damaging |
Het |
| Exoc3l2 |
G |
T |
7: 19,203,813 (GRCm39) |
R135L |
|
Het |
| Fam83a |
G |
A |
15: 57,849,569 (GRCm39) |
A38T |
probably damaging |
Het |
| G6pc2 |
T |
C |
2: 69,053,344 (GRCm39) |
Y133H |
probably benign |
Het |
| Gfy |
T |
C |
7: 44,827,518 (GRCm39) |
I193V |
probably benign |
Het |
| Ggnbp2 |
T |
C |
11: 84,744,899 (GRCm39) |
T208A |
probably benign |
Het |
| Gigyf1 |
T |
A |
5: 137,523,795 (GRCm39) |
M1019K |
probably damaging |
Het |
| Gm45783 |
T |
C |
7: 7,373,599 (GRCm39) |
D61G |
probably damaging |
Het |
| Golga5 |
T |
C |
12: 102,450,835 (GRCm39) |
|
probably null |
Het |
| Ighe |
A |
G |
12: 113,235,023 (GRCm39) |
V379A |
|
Het |
| Itpr3 |
C |
A |
17: 27,313,774 (GRCm39) |
H573Q |
probably benign |
Het |
| Klhl2 |
A |
G |
8: 65,202,809 (GRCm39) |
L463P |
probably damaging |
Het |
| Large1 |
T |
G |
8: 73,550,343 (GRCm39) |
M619L |
probably benign |
Het |
| Limd1 |
T |
A |
9: 123,308,748 (GRCm39) |
V149E |
probably benign |
Het |
| Lyz2 |
T |
C |
10: 117,118,144 (GRCm39) |
K2E |
probably damaging |
Het |
| Man2c1 |
T |
A |
9: 57,048,412 (GRCm39) |
S858T |
probably damaging |
Het |
| Nt5dc1 |
A |
T |
10: 34,180,932 (GRCm39) |
N439K |
probably benign |
Het |
| Or4a2 |
A |
G |
2: 89,248,145 (GRCm39) |
I204T |
probably benign |
Het |
| Or4n4b |
G |
A |
14: 50,536,281 (GRCm39) |
L162F |
probably benign |
Het |
| Or4p7 |
T |
C |
2: 88,222,224 (GRCm39) |
V211A |
possibly damaging |
Het |
| Or51f1 |
A |
T |
7: 102,506,278 (GRCm39) |
Y70* |
probably null |
Het |
| Or5d43 |
T |
C |
2: 88,105,445 (GRCm39) |
|
probably benign |
Het |
| Or7g27 |
A |
C |
9: 19,250,109 (GRCm39) |
M118L |
probably damaging |
Het |
| Otogl |
T |
C |
10: 107,722,843 (GRCm39) |
N296S |
probably benign |
Het |
| Patj |
A |
G |
4: 98,383,298 (GRCm39) |
N789D |
probably benign |
Het |
| Pcsk6 |
A |
G |
7: 65,693,314 (GRCm39) |
D851G |
possibly damaging |
Het |
| Peg3 |
T |
C |
7: 6,712,723 (GRCm39) |
H833R |
probably damaging |
Het |
| Pira1 |
T |
C |
7: 3,742,023 (GRCm39) |
E119G |
not run |
Het |
| Plekha5 |
A |
G |
6: 140,526,161 (GRCm39) |
D933G |
probably benign |
Het |
| Pnma1 |
G |
A |
12: 84,193,903 (GRCm39) |
R267C |
probably damaging |
Het |
| Ppp3cb |
T |
A |
14: 20,558,619 (GRCm39) |
H481L |
probably benign |
Het |
| Prl8a8 |
T |
C |
13: 27,695,418 (GRCm39) |
|
probably null |
Het |
| Ptma |
GGAAGAAG |
GGAAGAAGAAG |
1: 86,457,261 (GRCm39) |
|
probably benign |
Het |
| Ptpro |
C |
A |
6: 137,359,647 (GRCm39) |
L406I |
probably benign |
Het |
| Rbpj |
T |
C |
5: 53,758,276 (GRCm39) |
S18P |
probably benign |
Het |
| Rhbg |
C |
T |
3: 88,154,886 (GRCm39) |
V173M |
probably damaging |
Het |
| Rps6kc1 |
A |
G |
1: 190,532,254 (GRCm39) |
S583P |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,794,630 (GRCm39) |
S1217G |
probably benign |
Het |
| S1pr1 |
A |
T |
3: 115,505,922 (GRCm39) |
I224N |
probably damaging |
Het |
| Sall1 |
C |
T |
8: 89,757,681 (GRCm39) |
D808N |
probably benign |
Het |
| Shoc2 |
T |
C |
19: 53,976,467 (GRCm39) |
V119A |
probably benign |
Het |
| Spata31h1 |
A |
T |
10: 82,124,798 (GRCm39) |
Y2737* |
probably null |
Het |
| Spata31h1 |
T |
C |
10: 82,152,264 (GRCm39) |
Y34C |
unknown |
Het |
| Ssh2 |
A |
T |
11: 77,328,542 (GRCm39) |
E369D |
probably benign |
Het |
| Stx1b |
C |
T |
7: 127,406,531 (GRCm39) |
V273M |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,012,654 (GRCm39) |
H2615R |
probably benign |
Het |
| Tmc8 |
T |
C |
11: 117,675,758 (GRCm39) |
I225T |
probably benign |
Het |
| Tmem126b |
A |
G |
7: 90,121,854 (GRCm39) |
I52T |
probably benign |
Het |
| Top2b |
G |
A |
14: 16,416,605 (GRCm38) |
D1122N |
probably benign |
Het |
| Trav13-2 |
T |
A |
14: 53,872,363 (GRCm39) |
S7T |
possibly damaging |
Het |
| Ttc1 |
A |
T |
11: 43,636,189 (GRCm39) |
L18Q |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,567,553 (GRCm39) |
I27780N |
probably damaging |
Het |
| Ubfd1 |
T |
C |
7: 121,666,635 (GRCm39) |
S44P |
probably benign |
Het |
| Vmn1r89 |
A |
G |
7: 12,953,632 (GRCm39) |
K123E |
probably damaging |
Het |
| Vmn2r62 |
A |
C |
7: 42,437,316 (GRCm39) |
F389L |
possibly damaging |
Het |
| Vps35l |
C |
T |
7: 118,393,800 (GRCm39) |
|
probably null |
Het |
| Zdhhc11 |
T |
A |
13: 74,121,726 (GRCm39) |
M79K |
possibly damaging |
Het |
| Zfp202 |
G |
T |
9: 40,118,640 (GRCm39) |
V18F |
possibly damaging |
Het |
| Zfp39 |
A |
G |
11: 58,781,869 (GRCm39) |
F298L |
possibly damaging |
Het |
| Znrf1 |
G |
A |
8: 112,264,071 (GRCm39) |
G100D |
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 |
|
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'- GGGTGGTTTCAGCAATGTCC -3'
(R):5'- ACTCAATCTTGTGACAGCCG -3'
Sequencing Primer
(F):5'- GGTGGTTTCAGCAATGTCCTTTCTC -3'
(R):5'- GTTTGCACATCCCCCAGAAAGTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation