Incidental Mutation 'R1648:1110002E22Rik'
ID |
174005 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
1110002E22Rik
|
Ensembl Gene |
ENSMUSG00000090066 |
Gene Name |
RIKEN cDNA 1110002E22 gene |
Synonyms |
|
MMRRC Submission |
039684-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.544)
|
Stock # |
R1648 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
138065052-138081506 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 138069420 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 1457
(N1457D)
|
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: N1457D
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000123851 Gene: ENSMUSG00000090066 AA Change: N1457D
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184925
|
Meta Mutation Damage Score |
0.0638  |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.4%
|
Validation Efficiency |
95% (73/77) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
A |
G |
10: 10,395,371 (GRCm38) |
F817L |
probably damaging |
Het |
Akap6 |
A |
T |
12: 53,142,006 (GRCm38) |
K2068* |
probably null |
Het |
Alms1 |
T |
C |
6: 85,678,402 (GRCm38) |
L3310P |
probably damaging |
Het |
Ankrd27 |
T |
A |
7: 35,603,853 (GRCm38) |
D219E |
probably benign |
Het |
Atp10a |
T |
C |
7: 58,784,827 (GRCm38) |
V283A |
probably damaging |
Het |
Atp11a |
C |
T |
8: 12,847,495 (GRCm38) |
S270L |
probably damaging |
Het |
Casp3 |
T |
C |
8: 46,638,074 (GRCm38) |
S254P |
probably benign |
Het |
Cep104 |
G |
A |
4: 153,979,096 (GRCm38) |
|
probably null |
Het |
Cep170b |
C |
T |
12: 112,736,372 (GRCm38) |
T423I |
probably damaging |
Het |
Cfap58 |
A |
G |
19: 47,955,405 (GRCm38) |
E348G |
probably benign |
Het |
Chd6 |
A |
G |
2: 161,042,058 (GRCm38) |
L89S |
probably damaging |
Het |
Cyp2a22 |
T |
C |
7: 26,932,368 (GRCm38) |
S488G |
probably damaging |
Het |
D130040H23Rik |
C |
A |
8: 69,302,981 (GRCm38) |
H363Q |
probably benign |
Het |
Dcaf7 |
T |
A |
11: 106,051,802 (GRCm38) |
F192I |
probably damaging |
Het |
Ddx20 |
T |
C |
3: 105,679,188 (GRCm38) |
I614V |
probably benign |
Het |
Ehbp1 |
G |
A |
11: 22,096,000 (GRCm38) |
T558I |
probably damaging |
Het |
Eif2ak3 |
T |
A |
6: 70,883,631 (GRCm38) |
V397D |
possibly damaging |
Het |
Eif2b5 |
T |
C |
16: 20,502,585 (GRCm38) |
V296A |
possibly damaging |
Het |
Esr1 |
A |
G |
10: 5,001,260 (GRCm38) |
E546G |
possibly damaging |
Het |
Fras1 |
T |
A |
5: 96,726,613 (GRCm38) |
|
probably null |
Het |
G930045G22Rik |
T |
C |
6: 50,846,718 (GRCm38) |
|
noncoding transcript |
Het |
Gemin5 |
A |
T |
11: 58,147,979 (GRCm38) |
L568* |
probably null |
Het |
Gm22697+Rbm27 |
AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC |
AGGTCCCGGCCCAGGCCC |
18: 42,301,883 (GRCm38) |
|
probably benign |
Het |
Gpr155 |
T |
C |
2: 73,364,164 (GRCm38) |
|
probably null |
Het |
Has1 |
A |
G |
17: 17,849,985 (GRCm38) |
Y225H |
probably damaging |
Het |
Hk3 |
A |
G |
13: 55,014,461 (GRCm38) |
F110S |
probably damaging |
Het |
Iars1 |
A |
G |
13: 49,723,002 (GRCm38) |
K848E |
possibly damaging |
Het |
Kif17 |
A |
G |
4: 138,269,895 (GRCm38) |
Y43C |
probably damaging |
Het |
Kif20b |
A |
T |
19: 34,936,790 (GRCm38) |
T355S |
possibly damaging |
Het |
Kif21a |
T |
C |
15: 90,994,367 (GRCm38) |
T237A |
probably damaging |
Het |
Klc1 |
T |
C |
12: 111,776,887 (GRCm38) |
L216P |
probably damaging |
Het |
Krt7 |
A |
C |
15: 101,412,567 (GRCm38) |
S32R |
probably damaging |
Het |
Lama3 |
A |
G |
18: 12,532,199 (GRCm38) |
D2330G |
possibly damaging |
Het |
Limch1 |
T |
A |
5: 66,999,256 (GRCm38) |
S511R |
probably damaging |
Het |
Luzp2 |
T |
A |
7: 55,264,270 (GRCm38) |
|
probably null |
Het |
Macc1 |
T |
C |
12: 119,446,421 (GRCm38) |
M308T |
probably benign |
Het |
Mroh9 |
T |
G |
1: 163,046,056 (GRCm38) |
E510A |
probably damaging |
Het |
Myo1h |
G |
T |
5: 114,336,275 (GRCm38) |
L458F |
probably damaging |
Het |
Neto1 |
A |
T |
18: 86,500,054 (GRCm38) |
Y528F |
probably damaging |
Het |
Nlrp9b |
T |
A |
7: 20,026,544 (GRCm38) |
C187S |
possibly damaging |
Het |
Nup160 |
T |
C |
2: 90,710,088 (GRCm38) |
Y854H |
probably damaging |
Het |
Odc1 |
T |
C |
12: 17,548,537 (GRCm38) |
|
probably benign |
Het |
Or10a3n |
A |
G |
7: 108,893,765 (GRCm38) |
I214T |
probably damaging |
Het |
Or51a10 |
A |
G |
7: 104,050,169 (GRCm38) |
Y62H |
probably damaging |
Het |
Or5an10 |
T |
A |
19: 12,298,659 (GRCm38) |
I158L |
probably benign |
Het |
Plcb2 |
A |
T |
2: 118,723,780 (GRCm38) |
M64K |
possibly damaging |
Het |
Plcxd3 |
A |
T |
15: 4,375,809 (GRCm38) |
I33F |
probably benign |
Het |
Postn |
A |
G |
3: 54,376,101 (GRCm38) |
T534A |
probably damaging |
Het |
Prkd2 |
T |
A |
7: 16,857,807 (GRCm38) |
F588I |
possibly damaging |
Het |
Prrg4 |
C |
A |
2: 104,832,743 (GRCm38) |
A173S |
probably benign |
Het |
Rinl |
C |
T |
7: 28,797,632 (GRCm38) |
A519V |
probably damaging |
Het |
Rpgrip1l |
A |
C |
8: 91,252,889 (GRCm38) |
V975G |
probably damaging |
Het |
Rps6ka4 |
C |
A |
19: 6,839,362 (GRCm38) |
V118L |
probably benign |
Het |
Rtkn |
T |
C |
6: 83,135,994 (GRCm38) |
S16P |
probably damaging |
Het |
Sbspon |
C |
A |
1: 15,883,759 (GRCm38) |
R99L |
probably damaging |
Het |
Sdf4 |
G |
A |
4: 155,999,429 (GRCm38) |
A119T |
probably damaging |
Het |
Sgpp1 |
T |
A |
12: 75,716,216 (GRCm38) |
H397L |
possibly damaging |
Het |
Shc2 |
T |
A |
10: 79,626,111 (GRCm38) |
M367L |
probably benign |
Het |
Slc26a5 |
T |
A |
5: 21,813,976 (GRCm38) |
K590* |
probably null |
Het |
Slc39a12 |
T |
C |
2: 14,451,992 (GRCm38) |
V597A |
probably benign |
Het |
Smcp |
A |
T |
3: 92,584,481 (GRCm38) |
C20S |
unknown |
Het |
Tdrd6 |
A |
C |
17: 43,627,109 (GRCm38) |
V1016G |
possibly damaging |
Het |
Tmem132c |
T |
A |
5: 127,463,056 (GRCm38) |
|
probably benign |
Het |
Tmem170b |
A |
T |
13: 41,606,262 (GRCm38) |
Q16L |
probably null |
Het |
Tmem30a |
A |
G |
9: 79,793,029 (GRCm38) |
F61S |
probably damaging |
Het |
Tnfsf13b |
T |
C |
8: 10,031,534 (GRCm38) |
M232T |
probably damaging |
Het |
Trip11 |
T |
A |
12: 101,884,392 (GRCm38) |
K853* |
probably null |
Het |
Tusc3 |
C |
A |
8: 39,046,567 (GRCm38) |
S64* |
probably null |
Het |
Vmn2r111 |
A |
T |
17: 22,569,061 (GRCm38) |
D436E |
probably benign |
Het |
Zfp607a |
T |
C |
7: 27,879,068 (GRCm38) |
V521A |
probably benign |
Het |
Zfp704 |
A |
T |
3: 9,471,039 (GRCm38) |
S140R |
probably damaging |
Het |
|
Other mutations in 1110002E22Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0026:1110002E22Rik
|
UTSW |
3 |
138,066,805 (GRCm38) |
missense |
possibly damaging |
0.95 |
R0047:1110002E22Rik
|
UTSW |
3 |
138,066,264 (GRCm38) |
missense |
probably damaging |
0.97 |
R0047:1110002E22Rik
|
UTSW |
3 |
138,066,264 (GRCm38) |
missense |
probably damaging |
0.97 |
R0102:1110002E22Rik
|
UTSW |
3 |
138,068,113 (GRCm38) |
missense |
probably damaging |
1.00 |
R0102:1110002E22Rik
|
UTSW |
3 |
138,068,113 (GRCm38) |
missense |
probably damaging |
1.00 |
R0197:1110002E22Rik
|
UTSW |
3 |
138,069,871 (GRCm38) |
missense |
probably damaging |
1.00 |
R0239:1110002E22Rik
|
UTSW |
3 |
138,065,834 (GRCm38) |
small deletion |
probably benign |
|
R0394:1110002E22Rik
|
UTSW |
3 |
138,067,304 (GRCm38) |
missense |
probably damaging |
0.99 |
R0401:1110002E22Rik
|
UTSW |
3 |
138,070,306 (GRCm38) |
missense |
possibly damaging |
0.73 |
R0496:1110002E22Rik
|
UTSW |
3 |
138,068,244 (GRCm38) |
missense |
probably damaging |
1.00 |
R0591:1110002E22Rik
|
UTSW |
3 |
138,068,943 (GRCm38) |
nonsense |
probably null |
|
R0711:1110002E22Rik
|
UTSW |
3 |
138,068,225 (GRCm38) |
missense |
probably damaging |
0.99 |
R0883:1110002E22Rik
|
UTSW |
3 |
138,069,871 (GRCm38) |
missense |
probably damaging |
1.00 |
R0908:1110002E22Rik
|
UTSW |
3 |
138,070,077 (GRCm38) |
missense |
probably damaging |
0.99 |
R0968:1110002E22Rik
|
UTSW |
3 |
138,067,206 (GRCm38) |
missense |
probably damaging |
0.99 |
R1023:1110002E22Rik
|
UTSW |
3 |
138,066,871 (GRCm38) |
missense |
probably damaging |
1.00 |
R1168:1110002E22Rik
|
UTSW |
3 |
138,067,900 (GRCm38) |
missense |
probably benign |
0.20 |
R1472:1110002E22Rik
|
UTSW |
3 |
138,067,552 (GRCm38) |
missense |
possibly damaging |
0.95 |
R1538:1110002E22Rik
|
UTSW |
3 |
138,065,401 (GRCm38) |
missense |
probably benign |
0.02 |
R1800:1110002E22Rik
|
UTSW |
3 |
138,066,718 (GRCm38) |
missense |
probably damaging |
1.00 |
R1919:1110002E22Rik
|
UTSW |
3 |
138,067,270 (GRCm38) |
missense |
probably damaging |
0.99 |
R1974:1110002E22Rik
|
UTSW |
3 |
138,067,267 (GRCm38) |
missense |
probably damaging |
1.00 |
R1990:1110002E22Rik
|
UTSW |
3 |
138,065,658 (GRCm38) |
nonsense |
probably null |
|
R1991:1110002E22Rik
|
UTSW |
3 |
138,065,658 (GRCm38) |
nonsense |
probably null |
|
R2102:1110002E22Rik
|
UTSW |
3 |
138,065,173 (GRCm38) |
missense |
probably damaging |
0.99 |
R2761:1110002E22Rik
|
UTSW |
3 |
138,067,780 (GRCm38) |
missense |
probably damaging |
0.99 |
R2899:1110002E22Rik
|
UTSW |
3 |
138,065,682 (GRCm38) |
missense |
probably benign |
0.00 |
R3618:1110002E22Rik
|
UTSW |
3 |
138,068,407 (GRCm38) |
missense |
probably damaging |
1.00 |
R3904:1110002E22Rik
|
UTSW |
3 |
138,066,639 (GRCm38) |
missense |
probably benign |
0.15 |
R3955:1110002E22Rik
|
UTSW |
3 |
138,068,073 (GRCm38) |
missense |
probably benign |
0.00 |
R4520:1110002E22Rik
|
UTSW |
3 |
138,070,266 (GRCm38) |
missense |
probably damaging |
0.99 |
R4619:1110002E22Rik
|
UTSW |
3 |
138,069,759 (GRCm38) |
missense |
probably damaging |
0.99 |
R4736:1110002E22Rik
|
UTSW |
3 |
138,068,485 (GRCm38) |
missense |
probably damaging |
0.99 |
R4752:1110002E22Rik
|
UTSW |
3 |
138,069,990 (GRCm38) |
missense |
possibly damaging |
0.91 |
R4777:1110002E22Rik
|
UTSW |
3 |
138,065,742 (GRCm38) |
missense |
probably benign |
0.09 |
R4780:1110002E22Rik
|
UTSW |
3 |
138,065,370 (GRCm38) |
missense |
probably benign |
0.02 |
R4824:1110002E22Rik
|
UTSW |
3 |
138,065,676 (GRCm38) |
missense |
probably benign |
0.00 |
R4829:1110002E22Rik
|
UTSW |
3 |
138,069,019 (GRCm38) |
missense |
probably damaging |
0.99 |
R4965:1110002E22Rik
|
UTSW |
3 |
138,069,672 (GRCm38) |
missense |
probably benign |
|
R5206:1110002E22Rik
|
UTSW |
3 |
138,066,511 (GRCm38) |
missense |
probably benign |
0.00 |
R5212:1110002E22Rik
|
UTSW |
3 |
138,065,850 (GRCm38) |
missense |
possibly damaging |
0.85 |
R5373:1110002E22Rik
|
UTSW |
3 |
138,067,635 (GRCm38) |
missense |
probably benign |
|
R5374:1110002E22Rik
|
UTSW |
3 |
138,067,635 (GRCm38) |
missense |
probably benign |
|
R5506:1110002E22Rik
|
UTSW |
3 |
138,067,947 (GRCm38) |
missense |
probably damaging |
1.00 |
R5528:1110002E22Rik
|
UTSW |
3 |
138,066,499 (GRCm38) |
missense |
probably benign |
|
R5536:1110002E22Rik
|
UTSW |
3 |
138,066,388 (GRCm38) |
missense |
possibly damaging |
0.89 |
R5587:1110002E22Rik
|
UTSW |
3 |
138,065,409 (GRCm38) |
missense |
probably benign |
|
R5759:1110002E22Rik
|
UTSW |
3 |
138,068,658 (GRCm38) |
missense |
probably benign |
|
R5933:1110002E22Rik
|
UTSW |
3 |
138,070,348 (GRCm38) |
missense |
probably damaging |
1.00 |
R5957:1110002E22Rik
|
UTSW |
3 |
138,070,161 (GRCm38) |
missense |
probably benign |
|
R6092:1110002E22Rik
|
UTSW |
3 |
138,068,940 (GRCm38) |
missense |
probably benign |
0.02 |
R6305:1110002E22Rik
|
UTSW |
3 |
138,067,980 (GRCm38) |
missense |
probably damaging |
1.00 |
R6457:1110002E22Rik
|
UTSW |
3 |
138,066,622 (GRCm38) |
missense |
probably damaging |
1.00 |
R6469:1110002E22Rik
|
UTSW |
3 |
138,066,975 (GRCm38) |
missense |
probably damaging |
0.97 |
R6499:1110002E22Rik
|
UTSW |
3 |
138,068,800 (GRCm38) |
missense |
probably damaging |
1.00 |
R6527:1110002E22Rik
|
UTSW |
3 |
138,067,527 (GRCm38) |
missense |
probably damaging |
0.99 |
R6580:1110002E22Rik
|
UTSW |
3 |
138,066,625 (GRCm38) |
missense |
probably benign |
0.00 |
R6693:1110002E22Rik
|
UTSW |
3 |
138,069,154 (GRCm38) |
missense |
probably benign |
0.00 |
R6751:1110002E22Rik
|
UTSW |
3 |
138,066,210 (GRCm38) |
missense |
probably damaging |
1.00 |
R6852:1110002E22Rik
|
UTSW |
3 |
138,065,169 (GRCm38) |
nonsense |
probably null |
|
R6920:1110002E22Rik
|
UTSW |
3 |
138,068,050 (GRCm38) |
missense |
probably damaging |
1.00 |
R7001:1110002E22Rik
|
UTSW |
3 |
138,065,511 (GRCm38) |
missense |
probably benign |
|
R7145:1110002E22Rik
|
UTSW |
3 |
138,070,059 (GRCm38) |
missense |
probably damaging |
1.00 |
R7238:1110002E22Rik
|
UTSW |
3 |
138,069,951 (GRCm38) |
missense |
probably damaging |
1.00 |
R7278:1110002E22Rik
|
UTSW |
3 |
138,065,476 (GRCm38) |
missense |
probably benign |
|
R7425:1110002E22Rik
|
UTSW |
3 |
138,065,695 (GRCm38) |
missense |
probably benign |
0.00 |
R7487:1110002E22Rik
|
UTSW |
3 |
138,066,868 (GRCm38) |
missense |
probably damaging |
1.00 |
R7557:1110002E22Rik
|
UTSW |
3 |
138,068,283 (GRCm38) |
nonsense |
probably null |
|
R7663:1110002E22Rik
|
UTSW |
3 |
138,066,126 (GRCm38) |
missense |
probably damaging |
0.98 |
R7743:1110002E22Rik
|
UTSW |
3 |
138,068,755 (GRCm38) |
missense |
probably damaging |
1.00 |
R7799:1110002E22Rik
|
UTSW |
3 |
138,069,601 (GRCm38) |
missense |
probably benign |
0.33 |
R8181:1110002E22Rik
|
UTSW |
3 |
138,068,395 (GRCm38) |
missense |
probably damaging |
0.99 |
R8264:1110002E22Rik
|
UTSW |
3 |
138,067,782 (GRCm38) |
missense |
probably damaging |
0.99 |
R8273:1110002E22Rik
|
UTSW |
3 |
138,066,450 (GRCm38) |
missense |
probably benign |
|
R8434:1110002E22Rik
|
UTSW |
3 |
138,067,260 (GRCm38) |
missense |
probably damaging |
0.97 |
R8530:1110002E22Rik
|
UTSW |
3 |
138,068,825 (GRCm38) |
missense |
probably damaging |
0.99 |
R8754:1110002E22Rik
|
UTSW |
3 |
138,066,037 (GRCm38) |
missense |
probably benign |
|
R8808:1110002E22Rik
|
UTSW |
3 |
138,070,113 (GRCm38) |
missense |
probably benign |
0.01 |
R8891:1110002E22Rik
|
UTSW |
3 |
138,066,759 (GRCm38) |
nonsense |
probably null |
|
R9026:1110002E22Rik
|
UTSW |
3 |
138,065,148 (GRCm38) |
missense |
possibly damaging |
0.53 |
R9177:1110002E22Rik
|
UTSW |
3 |
138,069,916 (GRCm38) |
missense |
probably damaging |
1.00 |
R9250:1110002E22Rik
|
UTSW |
3 |
138,066,628 (GRCm38) |
missense |
probably damaging |
1.00 |
R9291:1110002E22Rik
|
UTSW |
3 |
138,066,703 (GRCm38) |
missense |
probably benign |
0.02 |
R9293:1110002E22Rik
|
UTSW |
3 |
138,066,078 (GRCm38) |
missense |
possibly damaging |
0.93 |
R9307:1110002E22Rik
|
UTSW |
3 |
138,065,422 (GRCm38) |
missense |
probably benign |
0.04 |
R9439:1110002E22Rik
|
UTSW |
3 |
138,066,287 (GRCm38) |
missense |
probably benign |
0.00 |
R9509:1110002E22Rik
|
UTSW |
3 |
138,065,834 (GRCm38) |
small deletion |
probably benign |
|
R9582:1110002E22Rik
|
UTSW |
3 |
138,067,005 (GRCm38) |
missense |
probably damaging |
0.99 |
R9599:1110002E22Rik
|
UTSW |
3 |
138,068,506 (GRCm38) |
missense |
probably benign |
0.16 |
R9613:1110002E22Rik
|
UTSW |
3 |
138,065,365 (GRCm38) |
missense |
probably damaging |
0.98 |
R9670:1110002E22Rik
|
UTSW |
3 |
138,065,133 (GRCm38) |
missense |
probably benign |
|
X0003:1110002E22Rik
|
UTSW |
3 |
138,069,096 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGGAAAGAACACAACCTTTGCAGC -3'
(R):5'- AGCAACGACTGTTTCTCGGTGG -3'
Sequencing Primer
(F):5'- TCACGGTGAGTTCTAGCAGC -3'
(R):5'- GGTTCCACTGACCTGAGATCC -3'
|
Posted On |
2014-04-24 |