Incidental Mutation 'R8808:1110002E22Rik'
ID |
672200 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
1110002E22Rik
|
Ensembl Gene |
ENSMUSG00000090066 |
Gene Name |
RIKEN cDNA 1110002E22 gene |
Synonyms |
|
MMRRC Submission |
068644-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.545)
|
Stock # |
R8808 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
137770813-137787267 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 137775874 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 1688
(P1688S)
|
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: P1688S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000123851 Gene: ENSMUSG00000090066 AA Change: P1688S
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: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
95% (60/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
T |
C |
15: 59,887,919 (GRCm39) |
T174A |
probably benign |
Het |
Actl10 |
T |
A |
2: 154,395,068 (GRCm39) |
L340Q |
probably damaging |
Het |
Adra1d |
T |
C |
2: 131,403,397 (GRCm39) |
E231G |
probably damaging |
Het |
Agt |
T |
A |
8: 125,291,028 (GRCm39) |
D93V |
probably benign |
Het |
Als2cl |
G |
T |
9: 110,718,282 (GRCm39) |
R341L |
possibly damaging |
Het |
Ankrd63 |
G |
T |
2: 118,533,549 (GRCm39) |
A124E |
unknown |
Het |
Aqp8 |
T |
C |
7: 123,065,922 (GRCm39) |
L239P |
probably damaging |
Het |
Arhgef11 |
A |
G |
3: 87,593,336 (GRCm39) |
E85G |
probably damaging |
Het |
Cacng4 |
T |
A |
11: 107,685,209 (GRCm39) |
I28F |
possibly damaging |
Het |
Cc2d1a |
T |
C |
8: 84,861,599 (GRCm39) |
D741G |
probably damaging |
Het |
Cct8l1 |
T |
A |
5: 25,722,210 (GRCm39) |
N308K |
possibly damaging |
Het |
Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
Chrna5 |
T |
A |
9: 54,905,348 (GRCm39) |
D53E |
probably benign |
Het |
Dap3 |
A |
T |
3: 88,835,514 (GRCm39) |
|
probably null |
Het |
Disp2 |
A |
G |
2: 118,620,489 (GRCm39) |
Y407C |
probably damaging |
Het |
Dnah1 |
A |
G |
14: 31,008,771 (GRCm39) |
M2001T |
probably benign |
Het |
Dysf |
C |
G |
6: 83,996,466 (GRCm39) |
|
probably benign |
Het |
Eif2ak1 |
A |
T |
5: 143,816,264 (GRCm39) |
K187N |
probably damaging |
Het |
Ethe1 |
T |
C |
7: 24,294,496 (GRCm39) |
S100P |
probably damaging |
Het |
Fam186a |
G |
C |
15: 99,842,604 (GRCm39) |
I1213M |
possibly damaging |
Het |
Gbp9 |
A |
G |
5: 105,232,875 (GRCm39) |
F259S |
probably damaging |
Het |
Heatr5b |
G |
A |
17: 79,072,834 (GRCm39) |
H1610Y |
possibly damaging |
Het |
Hk2 |
T |
A |
6: 82,705,747 (GRCm39) |
D852V |
probably benign |
Het |
Hmcn1 |
T |
A |
1: 150,531,570 (GRCm39) |
Q3233L |
possibly damaging |
Het |
Htt |
T |
A |
5: 35,046,791 (GRCm39) |
V2369E |
probably benign |
Het |
Il9 |
C |
A |
13: 56,629,942 (GRCm39) |
E35* |
probably null |
Het |
Itga8 |
A |
T |
2: 12,137,328 (GRCm39) |
C933* |
probably null |
Het |
Jak3 |
A |
G |
8: 72,138,164 (GRCm39) |
K872E |
possibly damaging |
Het |
Kcnmb2 |
A |
C |
3: 32,252,266 (GRCm39) |
M156L |
probably benign |
Het |
Kdm4a |
C |
T |
4: 117,999,480 (GRCm39) |
V981I |
unknown |
Het |
Klhl38 |
A |
T |
15: 58,178,225 (GRCm39) |
*582R |
probably null |
Het |
Map3k19 |
A |
G |
1: 127,751,866 (GRCm39) |
F495S |
probably damaging |
Het |
Mpeg1 |
T |
A |
19: 12,440,443 (GRCm39) |
W634R |
probably damaging |
Het |
Mrpl4 |
T |
A |
9: 20,918,978 (GRCm39) |
Y202N |
possibly damaging |
Het |
Nme8 |
A |
G |
13: 19,859,978 (GRCm39) |
V214A |
probably damaging |
Het |
Or4k36 |
A |
T |
2: 111,146,239 (GRCm39) |
R138S |
possibly damaging |
Het |
Or8k33 |
G |
A |
2: 86,384,297 (GRCm39) |
T57M |
probably damaging |
Het |
Pcdhgb6 |
A |
G |
18: 37,876,451 (GRCm39) |
I386M |
possibly damaging |
Het |
Pitpnm1 |
T |
A |
19: 4,162,356 (GRCm39) |
V1062E |
possibly damaging |
Het |
Plekhm3 |
G |
A |
1: 64,922,355 (GRCm39) |
R607W |
possibly damaging |
Het |
Plppr2 |
TCGCC |
TC |
9: 21,855,727 (GRCm39) |
|
probably benign |
Het |
Prap1 |
C |
A |
7: 139,676,982 (GRCm39) |
H141Q |
probably damaging |
Het |
Prep |
T |
A |
10: 44,971,252 (GRCm39) |
Y187* |
probably null |
Het |
Rergl |
T |
G |
6: 139,478,865 (GRCm39) |
E3A |
probably benign |
Het |
Rnf19a |
A |
T |
15: 36,242,021 (GRCm39) |
S673T |
probably benign |
Het |
Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
St18 |
G |
A |
1: 6,880,826 (GRCm39) |
E440K |
probably damaging |
Het |
Syne1 |
T |
A |
10: 5,309,074 (GRCm39) |
Q645L |
probably damaging |
Het |
Tmcc1 |
C |
A |
6: 116,111,099 (GRCm39) |
V61L |
|
Het |
Tmcc1 |
A |
T |
6: 116,111,098 (GRCm39) |
V61E |
|
Het |
Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
Tmem201 |
C |
A |
4: 149,814,138 (GRCm39) |
R154L |
possibly damaging |
Het |
Tmem71 |
G |
A |
15: 66,410,655 (GRCm39) |
A239V |
possibly damaging |
Het |
Tpgs2 |
A |
G |
18: 25,284,275 (GRCm39) |
W78R |
probably damaging |
Het |
Tssc4 |
T |
C |
7: 142,623,436 (GRCm39) |
V22A |
unknown |
Het |
Ttn |
T |
A |
2: 76,723,128 (GRCm39) |
E6496D |
unknown |
Het |
Ttn |
T |
A |
2: 76,697,539 (GRCm39) |
L227F |
|
Het |
Vps50 |
G |
T |
6: 3,522,338 (GRCm39) |
G169* |
probably null |
Het |
Yy1 |
CGGCGACCACGGCGGCGGCGGGGGCG |
CGGCG |
12: 108,759,506 (GRCm39) |
|
probably benign |
Het |
Zfp407 |
T |
C |
18: 84,361,185 (GRCm39) |
K1703R |
probably benign |
Het |
Zfp616 |
T |
G |
11: 73,976,523 (GRCm39) |
C931G |
probably damaging |
Het |
Zfp949 |
G |
A |
9: 88,451,417 (GRCm39) |
C329Y |
probably damaging |
Het |
Zswim5 |
T |
A |
4: 116,822,887 (GRCm39) |
D452E |
probably benign |
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 |
|
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 |
|
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'- AGATTGTTTGACCCCGAGACAG -3'
(R):5'- AGGTGATGCTGATGACAGGC -3'
Sequencing Primer
(F):5'- GGGCAATACGTGGATGTGCC -3'
(R):5'- ATGCTGATGACAGGCTTGCC -3'
|
Posted On |
2021-04-30 |