Incidental Mutation 'R7425:1110002E22Rik'
| ID |
575974 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
1110002E22Rik
|
| Ensembl Gene |
ENSMUSG00000090066 |
| Gene Name |
RIKEN cDNA 1110002E22 gene |
| Synonyms |
|
| MMRRC Submission |
045503-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.431)
|
| Stock # |
R7425 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
137770813-137787267 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 137771456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 215
(E215G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053318]
[ENSMUST00000163080]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053318
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163080
AA Change: E215G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: E215G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
505 |
N/A |
INTRINSIC |
|
low complexity region
|
667 |
680 |
N/A |
INTRINSIC |
|
low complexity region
|
937 |
948 |
N/A |
INTRINSIC |
|
low complexity region
|
995 |
1007 |
N/A |
INTRINSIC |
|
low complexity region
|
1105 |
1115 |
N/A |
INTRINSIC |
|
low complexity region
|
1224 |
1242 |
N/A |
INTRINSIC |
|
low complexity region
|
1376 |
1385 |
N/A |
INTRINSIC |
|
Pfam:DUF4585
|
1598 |
1667 |
6.9e-32 |
PFAM |
|
low complexity region
|
1723 |
1738 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam8 |
T |
A |
7: 139,572,394 (GRCm39) |
|
probably benign |
Het |
| Ankrd35 |
A |
G |
3: 96,592,104 (GRCm39) |
S797G |
not run |
Het |
| Anxa3 |
T |
A |
5: 96,982,680 (GRCm39) |
H259Q |
probably benign |
Het |
| Ap3d1 |
T |
A |
10: 80,557,426 (GRCm39) |
Q302L |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,305,682 (GRCm39) |
V1294A |
probably benign |
Het |
| Atp13a5 |
G |
A |
16: 29,116,278 (GRCm39) |
Q613* |
probably null |
Het |
| Bltp1 |
T |
A |
3: 37,002,490 (GRCm39) |
H1478Q |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,037,543 (GRCm39) |
H2448L |
probably benign |
Het |
| Bmpr2 |
T |
G |
1: 59,906,510 (GRCm39) |
N534K |
probably benign |
Het |
| C1qbp |
T |
C |
11: 70,869,072 (GRCm39) |
|
probably null |
Het |
| C1qbp |
G |
T |
11: 70,869,073 (GRCm39) |
|
probably null |
Het |
| C1ql3 |
T |
G |
2: 13,015,229 (GRCm39) |
K144Q |
possibly damaging |
Het |
| C3 |
T |
C |
17: 57,511,039 (GRCm39) |
M1656V |
possibly damaging |
Het |
| Cand1 |
A |
T |
10: 119,052,148 (GRCm39) |
Y252N |
probably benign |
Het |
| Capn13 |
T |
C |
17: 73,625,053 (GRCm39) |
I632M |
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,557,757 (GRCm39) |
E776G |
probably damaging |
Het |
| Ccnl1 |
A |
T |
3: 65,856,179 (GRCm39) |
V242D |
probably damaging |
Het |
| Cd68 |
T |
C |
11: 69,555,938 (GRCm39) |
D200G |
probably benign |
Het |
| Cela3a |
T |
C |
4: 137,132,899 (GRCm39) |
N118D |
probably benign |
Het |
| Celsr2 |
A |
G |
3: 108,309,773 (GRCm39) |
C1609R |
probably damaging |
Het |
| Cep85l |
G |
C |
10: 53,177,666 (GRCm39) |
Q458E |
probably damaging |
Het |
| Cnga1 |
T |
G |
5: 72,766,868 (GRCm39) |
E190D |
probably benign |
Het |
| Cntnap3 |
G |
A |
13: 64,906,066 (GRCm39) |
R847C |
probably damaging |
Het |
| Cntrob |
G |
A |
11: 69,205,560 (GRCm39) |
Q425* |
probably null |
Het |
| Commd9 |
G |
A |
2: 101,730,245 (GRCm39) |
W128* |
probably null |
Het |
| Csnk1a1 |
C |
T |
18: 61,718,330 (GRCm39) |
S352L |
unknown |
Het |
| Dact2 |
A |
G |
17: 14,416,593 (GRCm39) |
S536P |
probably damaging |
Het |
| Ddx25 |
A |
G |
9: 35,465,882 (GRCm39) |
I113T |
probably benign |
Het |
| Dscam |
T |
A |
16: 96,430,598 (GRCm39) |
D1630V |
probably damaging |
Het |
| Fndc7 |
A |
C |
3: 108,783,975 (GRCm39) |
F211L |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,262,091 (GRCm39) |
T559A |
probably damaging |
Het |
| Hpx |
C |
A |
7: 105,241,068 (GRCm39) |
D402Y |
probably damaging |
Het |
| Ints13 |
A |
G |
6: 146,476,198 (GRCm39) |
|
probably null |
Het |
| Ipcef1 |
T |
C |
10: 6,906,066 (GRCm39) |
K76E |
probably damaging |
Het |
| Kcnb2 |
A |
C |
1: 15,780,031 (GRCm39) |
Q301P |
probably damaging |
Het |
| Lamp3 |
C |
T |
16: 19,518,362 (GRCm39) |
|
probably null |
Het |
| Lmod2 |
A |
T |
6: 24,603,475 (GRCm39) |
H150L |
probably benign |
Het |
| Lrch3 |
T |
C |
16: 32,826,077 (GRCm39) |
F718S |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,596,287 (GRCm39) |
V1082A |
probably benign |
Het |
| Nbas |
G |
T |
12: 13,519,881 (GRCm39) |
V1598L |
probably damaging |
Het |
| Nrxn3 |
C |
T |
12: 89,479,870 (GRCm39) |
R671* |
probably null |
Het |
| Or4c110 |
A |
T |
2: 88,832,544 (GRCm39) |
F29L |
|
Het |
| Or4c58 |
A |
G |
2: 89,674,789 (GRCm39) |
L176P |
probably damaging |
Het |
| Or52e8 |
A |
T |
7: 104,624,268 (GRCm39) |
L312* |
probably null |
Het |
| Or5a3 |
A |
C |
19: 12,400,204 (GRCm39) |
H177P |
probably damaging |
Het |
| Or6d14 |
A |
T |
6: 116,533,398 (GRCm39) |
E4V |
possibly damaging |
Het |
| Pcdhga6 |
T |
A |
18: 37,841,619 (GRCm39) |
N446K |
probably damaging |
Het |
| Phlpp1 |
A |
T |
1: 106,320,303 (GRCm39) |
I1433F |
probably benign |
Het |
| Pla2g6 |
G |
A |
15: 79,192,933 (GRCm39) |
R245C |
probably damaging |
Het |
| Rgl3 |
G |
A |
9: 21,888,123 (GRCm39) |
Q464* |
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,720,530 (GRCm39) |
D2706G |
probably benign |
Het |
| Sbf2 |
G |
A |
7: 109,974,984 (GRCm39) |
Q718* |
probably null |
Het |
| Sdad1 |
T |
C |
5: 92,447,980 (GRCm39) |
T252A |
probably benign |
Het |
| Sgk1 |
T |
C |
10: 21,870,009 (GRCm39) |
L16P |
probably damaging |
Het |
| Slc38a8 |
A |
G |
8: 120,212,327 (GRCm39) |
S339P |
possibly damaging |
Het |
| Slc44a4 |
T |
C |
17: 35,140,667 (GRCm39) |
S287P |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,375,760 (GRCm39) |
I111V |
probably damaging |
Het |
| Synm |
A |
C |
7: 67,383,194 (GRCm39) |
S1489R |
probably damaging |
Het |
| Tfb2m |
A |
G |
1: 179,365,269 (GRCm39) |
F232L |
probably benign |
Het |
| Traf3 |
A |
T |
12: 111,227,095 (GRCm39) |
K328* |
probably null |
Het |
| Trim38 |
C |
A |
13: 23,972,365 (GRCm39) |
Q229K |
probably benign |
Het |
| Vcan |
A |
G |
13: 89,837,951 (GRCm39) |
I2531T |
probably damaging |
Het |
| Virma |
T |
A |
4: 11,546,211 (GRCm39) |
I1683N |
possibly damaging |
Het |
| Vmn1r18 |
A |
T |
6: 57,367,551 (GRCm39) |
M1K |
probably null |
Het |
| Vmn2r87 |
T |
C |
10: 130,314,761 (GRCm39) |
N275S |
probably damaging |
Het |
| Vps13a |
T |
A |
19: 16,701,066 (GRCm39) |
H701L |
probably benign |
Het |
| Vrk3 |
T |
A |
7: 44,420,348 (GRCm39) |
|
probably null |
Het |
| Zfp993 |
T |
A |
4: 146,742,098 (GRCm39) |
S141T |
possibly damaging |
Het |
|
| Other mutations in 1110002E22Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0026:1110002E22Rik
|
UTSW |
3 |
137,772,566 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0047:1110002E22Rik
|
UTSW |
3 |
137,772,025 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0047:1110002E22Rik
|
UTSW |
3 |
137,772,025 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0102:1110002E22Rik
|
UTSW |
3 |
137,773,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0102:1110002E22Rik
|
UTSW |
3 |
137,773,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0197:1110002E22Rik
|
UTSW |
3 |
137,775,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:1110002E22Rik
|
UTSW |
3 |
137,771,595 (GRCm39) |
small deletion |
probably benign |
|
|
R0394:1110002E22Rik
|
UTSW |
3 |
137,773,065 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0401:1110002E22Rik
|
UTSW |
3 |
137,776,067 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0496:1110002E22Rik
|
UTSW |
3 |
137,774,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0591:1110002E22Rik
|
UTSW |
3 |
137,774,704 (GRCm39) |
nonsense |
probably null |
|
|
R0711:1110002E22Rik
|
UTSW |
3 |
137,773,986 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0883:1110002E22Rik
|
UTSW |
3 |
137,775,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0908:1110002E22Rik
|
UTSW |
3 |
137,775,838 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0968:1110002E22Rik
|
UTSW |
3 |
137,772,967 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1023:1110002E22Rik
|
UTSW |
3 |
137,772,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1168:1110002E22Rik
|
UTSW |
3 |
137,773,661 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1472:1110002E22Rik
|
UTSW |
3 |
137,773,313 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1538:1110002E22Rik
|
UTSW |
3 |
137,771,162 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1648:1110002E22Rik
|
UTSW |
3 |
137,775,181 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1800:1110002E22Rik
|
UTSW |
3 |
137,772,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1919:1110002E22Rik
|
UTSW |
3 |
137,773,031 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1974:1110002E22Rik
|
UTSW |
3 |
137,773,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1990:1110002E22Rik
|
UTSW |
3 |
137,771,419 (GRCm39) |
nonsense |
probably null |
|
|
R1991:1110002E22Rik
|
UTSW |
3 |
137,771,419 (GRCm39) |
nonsense |
probably null |
|
|
R2102:1110002E22Rik
|
UTSW |
3 |
137,770,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2761:1110002E22Rik
|
UTSW |
3 |
137,773,541 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2899:1110002E22Rik
|
UTSW |
3 |
137,771,443 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3618:1110002E22Rik
|
UTSW |
3 |
137,774,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3904:1110002E22Rik
|
UTSW |
3 |
137,772,400 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3955:1110002E22Rik
|
UTSW |
3 |
137,773,834 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4520:1110002E22Rik
|
UTSW |
3 |
137,776,027 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4619:1110002E22Rik
|
UTSW |
3 |
137,775,520 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4736:1110002E22Rik
|
UTSW |
3 |
137,774,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4752:1110002E22Rik
|
UTSW |
3 |
137,775,751 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4777:1110002E22Rik
|
UTSW |
3 |
137,771,503 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4780:1110002E22Rik
|
UTSW |
3 |
137,771,131 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4824:1110002E22Rik
|
UTSW |
3 |
137,771,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4829:1110002E22Rik
|
UTSW |
3 |
137,774,780 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4965:1110002E22Rik
|
UTSW |
3 |
137,775,433 (GRCm39) |
missense |
probably benign |
|
|
R5206:1110002E22Rik
|
UTSW |
3 |
137,772,272 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5212:1110002E22Rik
|
UTSW |
3 |
137,771,611 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5373:1110002E22Rik
|
UTSW |
3 |
137,773,396 (GRCm39) |
missense |
probably benign |
|
|
R5374:1110002E22Rik
|
UTSW |
3 |
137,773,396 (GRCm39) |
missense |
probably benign |
|
|
R5506:1110002E22Rik
|
UTSW |
3 |
137,773,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5528:1110002E22Rik
|
UTSW |
3 |
137,772,260 (GRCm39) |
missense |
probably benign |
|
|
R5536:1110002E22Rik
|
UTSW |
3 |
137,772,149 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5587:1110002E22Rik
|
UTSW |
3 |
137,771,170 (GRCm39) |
missense |
probably benign |
|
|
R5759:1110002E22Rik
|
UTSW |
3 |
137,774,419 (GRCm39) |
missense |
probably benign |
|
|
R5933:1110002E22Rik
|
UTSW |
3 |
137,776,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5957:1110002E22Rik
|
UTSW |
3 |
137,775,922 (GRCm39) |
missense |
probably benign |
|
|
R6092:1110002E22Rik
|
UTSW |
3 |
137,774,701 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6305:1110002E22Rik
|
UTSW |
3 |
137,773,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6457:1110002E22Rik
|
UTSW |
3 |
137,772,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6469:1110002E22Rik
|
UTSW |
3 |
137,772,736 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6499:1110002E22Rik
|
UTSW |
3 |
137,774,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6527:1110002E22Rik
|
UTSW |
3 |
137,773,288 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6580:1110002E22Rik
|
UTSW |
3 |
137,772,386 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6693:1110002E22Rik
|
UTSW |
3 |
137,774,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6751:1110002E22Rik
|
UTSW |
3 |
137,771,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6852:1110002E22Rik
|
UTSW |
3 |
137,770,930 (GRCm39) |
nonsense |
probably null |
|
|
R6920:1110002E22Rik
|
UTSW |
3 |
137,773,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7001:1110002E22Rik
|
UTSW |
3 |
137,771,272 (GRCm39) |
missense |
probably benign |
|
|
R7145:1110002E22Rik
|
UTSW |
3 |
137,775,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7238:1110002E22Rik
|
UTSW |
3 |
137,775,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7278:1110002E22Rik
|
UTSW |
3 |
137,771,237 (GRCm39) |
missense |
probably benign |
|
|
R7487:1110002E22Rik
|
UTSW |
3 |
137,772,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7557:1110002E22Rik
|
UTSW |
3 |
137,774,044 (GRCm39) |
nonsense |
probably null |
|
|
R7663:1110002E22Rik
|
UTSW |
3 |
137,771,887 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7743:1110002E22Rik
|
UTSW |
3 |
137,774,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7799:1110002E22Rik
|
UTSW |
3 |
137,775,362 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8181:1110002E22Rik
|
UTSW |
3 |
137,774,156 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8264:1110002E22Rik
|
UTSW |
3 |
137,773,543 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8273:1110002E22Rik
|
UTSW |
3 |
137,772,211 (GRCm39) |
missense |
probably benign |
|
|
R8434:1110002E22Rik
|
UTSW |
3 |
137,773,021 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8530:1110002E22Rik
|
UTSW |
3 |
137,774,586 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8754:1110002E22Rik
|
UTSW |
3 |
137,771,798 (GRCm39) |
missense |
probably benign |
|
|
R8808:1110002E22Rik
|
UTSW |
3 |
137,775,874 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8891:1110002E22Rik
|
UTSW |
3 |
137,772,520 (GRCm39) |
nonsense |
probably null |
|
|
R9026:1110002E22Rik
|
UTSW |
3 |
137,770,909 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9177:1110002E22Rik
|
UTSW |
3 |
137,775,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9250:1110002E22Rik
|
UTSW |
3 |
137,772,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9291:1110002E22Rik
|
UTSW |
3 |
137,772,464 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9293:1110002E22Rik
|
UTSW |
3 |
137,771,839 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9307:1110002E22Rik
|
UTSW |
3 |
137,771,183 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9439:1110002E22Rik
|
UTSW |
3 |
137,772,048 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9509:1110002E22Rik
|
UTSW |
3 |
137,771,595 (GRCm39) |
small deletion |
probably benign |
|
|
R9582:1110002E22Rik
|
UTSW |
3 |
137,772,766 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9599:1110002E22Rik
|
UTSW |
3 |
137,774,267 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9613:1110002E22Rik
|
UTSW |
3 |
137,771,126 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9670:1110002E22Rik
|
UTSW |
3 |
137,770,894 (GRCm39) |
missense |
probably benign |
|
|
X0003:1110002E22Rik
|
UTSW |
3 |
137,774,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAGAATGGAAGGCGGTAC -3'
(R):5'- AGGCCATTGTCTTCTGCAC -3'
Sequencing Primer
(F):5'- GGTACGTCTGACATGAACTCACAG -3'
(R):5'- TCTGCACTGTCCACCAGG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation