Incidental Mutation 'R6852:1110002E22Rik'
ID |
535008 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
1110002E22Rik
|
Ensembl Gene |
ENSMUSG00000090066 |
Gene Name |
RIKEN cDNA 1110002E22 gene |
Synonyms |
|
MMRRC Submission |
045023-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.545)
|
Stock # |
R6852 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
137770813-137787267 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 137770930 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 40
(Q40*)
|
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 null
Transcript: ENSMUST00000163080
AA Change: Q40*
|
SMART Domains |
Protein: ENSMUSP00000123851 Gene: ENSMUSG00000090066 AA Change: Q40*
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: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034E13Rik |
T |
C |
18: 52,796,705 (GRCm39) |
V81A |
probably damaging |
Het |
A630089N07Rik |
A |
G |
16: 97,866,855 (GRCm39) |
I369T |
probably benign |
Het |
Aatk |
T |
A |
11: 119,901,294 (GRCm39) |
Q977L |
probably benign |
Het |
Abca4 |
A |
T |
3: 121,928,844 (GRCm39) |
Q144H |
probably damaging |
Het |
Ampd3 |
T |
C |
7: 110,401,753 (GRCm39) |
F416L |
probably benign |
Het |
Anks1b |
A |
G |
10: 90,096,516 (GRCm39) |
E425G |
probably damaging |
Het |
Atm |
A |
G |
9: 53,393,730 (GRCm39) |
S1737P |
possibly damaging |
Het |
Bsph1 |
T |
A |
7: 13,204,255 (GRCm39) |
|
probably null |
Het |
Cabyr |
C |
T |
18: 12,887,154 (GRCm39) |
P262S |
probably benign |
Het |
Cdc14a |
G |
A |
3: 116,122,325 (GRCm39) |
P214L |
possibly damaging |
Het |
Cep128 |
C |
A |
12: 91,333,116 (GRCm39) |
|
probably null |
Het |
Cfh |
T |
A |
1: 140,075,487 (GRCm39) |
R250S |
probably damaging |
Het |
Ddx39a |
T |
C |
8: 84,449,646 (GRCm39) |
I417T |
probably benign |
Het |
Dgka |
T |
A |
10: 128,558,408 (GRCm39) |
K548M |
probably damaging |
Het |
Efr3a |
G |
A |
15: 65,701,679 (GRCm39) |
V198I |
probably benign |
Het |
Elapor1 |
T |
C |
3: 108,389,654 (GRCm39) |
E203G |
probably damaging |
Het |
Epg5 |
C |
T |
18: 78,056,106 (GRCm39) |
T1760I |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,488,635 (GRCm39) |
V3472A |
possibly damaging |
Het |
Fbxo48 |
T |
A |
11: 16,903,402 (GRCm39) |
N9K |
probably benign |
Het |
Fcgbpl1 |
T |
A |
7: 27,846,560 (GRCm39) |
I1084N |
probably damaging |
Het |
Fer1l6 |
A |
T |
15: 58,466,727 (GRCm39) |
H833L |
probably damaging |
Het |
Foxn1 |
G |
T |
11: 78,251,786 (GRCm39) |
Q482K |
probably benign |
Het |
Fstl5 |
A |
G |
3: 76,615,162 (GRCm39) |
D741G |
probably damaging |
Het |
Gmip |
C |
T |
8: 70,270,641 (GRCm39) |
Q55* |
probably null |
Het |
H2-T5 |
T |
C |
17: 36,478,965 (GRCm39) |
N95D |
possibly damaging |
Het |
Hapln2 |
G |
A |
3: 87,929,958 (GRCm39) |
T306M |
possibly damaging |
Het |
Kat6a |
T |
A |
8: 23,428,676 (GRCm39) |
S1344T |
probably benign |
Het |
Kctd1 |
C |
T |
18: 15,119,401 (GRCm39) |
D705N |
possibly damaging |
Het |
Lhx9 |
ACC |
ACCC |
1: 138,769,544 (GRCm39) |
|
probably null |
Het |
Micall2 |
G |
T |
5: 139,701,548 (GRCm39) |
A482D |
possibly damaging |
Het |
Mindy3 |
T |
A |
2: 12,424,063 (GRCm39) |
M1L |
possibly damaging |
Het |
Mtdh |
A |
G |
15: 34,136,867 (GRCm39) |
E352G |
probably damaging |
Het |
Muc5ac |
G |
A |
7: 141,370,644 (GRCm39) |
V3219I |
probably benign |
Het |
Myh4 |
A |
G |
11: 67,143,794 (GRCm39) |
|
probably null |
Het |
Ncor1 |
A |
G |
11: 62,234,071 (GRCm39) |
I377T |
probably damaging |
Het |
Oog4 |
C |
A |
4: 143,165,679 (GRCm39) |
C156F |
possibly damaging |
Het |
Or5m9 |
A |
T |
2: 85,876,948 (GRCm39) |
I41F |
probably benign |
Het |
Pcyt1a |
T |
C |
16: 32,288,938 (GRCm39) |
S260P |
probably damaging |
Het |
Phf3 |
A |
T |
1: 30,843,711 (GRCm39) |
F1749L |
probably damaging |
Het |
Prickle2 |
T |
C |
6: 92,353,525 (GRCm39) |
D647G |
probably benign |
Het |
Raver2 |
T |
C |
4: 100,990,787 (GRCm39) |
S387P |
probably benign |
Het |
Relch |
T |
C |
1: 105,681,320 (GRCm39) |
L1184P |
probably damaging |
Het |
Rgs19 |
A |
G |
2: 181,330,941 (GRCm39) |
S231P |
possibly damaging |
Het |
Rpl8 |
G |
T |
15: 76,790,149 (GRCm39) |
R198L |
probably benign |
Het |
Sacs |
T |
A |
14: 61,416,737 (GRCm39) |
S77T |
possibly damaging |
Het |
Samd14 |
G |
A |
11: 94,912,280 (GRCm39) |
G219D |
probably damaging |
Het |
Sec16a |
C |
T |
2: 26,331,431 (GRCm39) |
V195M |
probably damaging |
Het |
Sesn2 |
C |
T |
4: 132,221,113 (GRCm39) |
V453I |
possibly damaging |
Het |
Slc46a3 |
A |
T |
5: 147,822,970 (GRCm39) |
C291S |
probably damaging |
Het |
Smarcal1 |
A |
G |
1: 72,630,332 (GRCm39) |
T129A |
possibly damaging |
Het |
Sorl1 |
T |
A |
9: 41,935,694 (GRCm39) |
R1041W |
possibly damaging |
Het |
Sptlc3 |
T |
C |
2: 139,408,506 (GRCm39) |
I207T |
probably benign |
Het |
Srgap3 |
T |
C |
6: 112,793,622 (GRCm39) |
D118G |
probably damaging |
Het |
Tas2r117 |
T |
A |
6: 132,779,892 (GRCm39) |
V10D |
probably benign |
Het |
Tbcd |
A |
G |
11: 121,500,206 (GRCm39) |
K1111E |
probably benign |
Het |
Tor1aip1 |
A |
T |
1: 155,911,566 (GRCm39) |
L139Q |
probably damaging |
Het |
Trbv23 |
T |
C |
6: 41,193,181 (GRCm39) |
V23A |
probably damaging |
Het |
Ttll3 |
AAGTA |
AAGTATAGTA |
6: 113,376,120 (GRCm39) |
|
probably null |
Het |
Ttll3 |
GGCAAAG |
GGCAAAGCAAAG |
6: 113,376,116 (GRCm39) |
|
probably null |
Het |
Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
Vmn1r42 |
T |
G |
6: 89,821,769 (GRCm39) |
T267P |
possibly damaging |
Het |
Vmn2r53 |
C |
A |
7: 12,340,441 (GRCm39) |
V11F |
probably damaging |
Het |
Vmn2r67 |
T |
C |
7: 84,801,361 (GRCm39) |
M192V |
probably damaging |
Het |
Vmn2r78 |
T |
C |
7: 86,603,811 (GRCm39) |
V663A |
probably damaging |
Het |
Zdhhc1 |
C |
T |
8: 106,203,704 (GRCm39) |
G156S |
possibly damaging |
Het |
Zfp318 |
AGAAG |
AGAAGAGGAAG |
17: 46,723,464 (GRCm39) |
|
probably benign |
Het |
Zfp318 |
GAAGAA |
GAAGAAAAAGAA |
17: 46,723,459 (GRCm39) |
|
probably benign |
Het |
Zfp318 |
AAGAAG |
AAGAAGTAGAAG |
17: 46,723,460 (GRCm39) |
|
probably benign |
Het |
Zfp560 |
A |
G |
9: 20,259,339 (GRCm39) |
C508R |
probably damaging |
Het |
Zfp654 |
G |
A |
16: 64,606,961 (GRCm39) |
L414F |
probably damaging |
Het |
Zfp872 |
A |
T |
9: 22,111,355 (GRCm39) |
Y278F |
probably damaging |
Het |
Zscan20 |
T |
C |
4: 128,483,515 (GRCm39) |
S385G |
probably 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 |
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 |
|
R7425:1110002E22Rik
|
UTSW |
3 |
137,771,456 (GRCm39) |
missense |
probably benign |
0.00 |
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'- TATTTCTGGAATGACGTGACCCTC -3'
(R):5'- CTGAAACAGGTTCCCACGTG -3'
Sequencing Primer
(F):5'- GGAATGACGTGACCCTCTATCTC -3'
(R):5'- CCCAAGGCTGTAGGTACCACTG -3'
|
Posted On |
2018-09-12 |