Incidental Mutation 'R6092:1110002E22Rik'
ID |
485971 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
1110002E22Rik
|
Ensembl Gene |
ENSMUSG00000090066 |
Gene Name |
RIKEN cDNA 1110002E22 gene |
Synonyms |
|
MMRRC Submission |
044249-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.431)
|
Stock # |
R6092 (G1)
|
Quality Score |
140.008 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
137770813-137787267 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 137774701 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 1297
(P1297S)
|
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: P1297S
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000123851 Gene: ENSMUSG00000090066 AA Change: P1297S
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
Validation Efficiency |
98% (61/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930486L24Rik |
C |
T |
13: 61,001,461 (GRCm39) |
V89M |
probably benign |
Het |
Abhd16a |
T |
C |
17: 35,317,786 (GRCm39) |
|
probably null |
Het |
Abtb1 |
A |
C |
6: 88,815,433 (GRCm39) |
C264G |
probably benign |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Arid1a |
C |
T |
4: 133,421,163 (GRCm39) |
G881R |
unknown |
Het |
Asb8 |
A |
G |
15: 98,034,123 (GRCm39) |
V144A |
possibly damaging |
Het |
Atm |
A |
C |
9: 53,435,714 (GRCm39) |
C199G |
probably damaging |
Het |
Atxn1 |
C |
A |
13: 45,720,288 (GRCm39) |
V536L |
probably benign |
Het |
Baz1a |
C |
T |
12: 54,955,868 (GRCm39) |
V1074M |
possibly damaging |
Het |
BC034090 |
T |
A |
1: 155,100,659 (GRCm39) |
D535V |
probably damaging |
Het |
Casp8ap2 |
C |
A |
4: 32,639,380 (GRCm39) |
H145N |
probably damaging |
Het |
Ccdc24 |
T |
A |
4: 117,729,645 (GRCm39) |
K25* |
probably null |
Het |
Ccdc91 |
A |
G |
6: 147,437,114 (GRCm39) |
N100S |
possibly damaging |
Het |
Cdh20 |
A |
T |
1: 110,026,036 (GRCm39) |
Y424F |
probably benign |
Het |
Clasp1 |
T |
C |
1: 118,438,028 (GRCm39) |
S612P |
probably damaging |
Het |
Cxcl14 |
T |
C |
13: 56,443,646 (GRCm39) |
M55V |
possibly damaging |
Het |
Dnah11 |
T |
C |
12: 117,892,191 (GRCm39) |
T3661A |
probably benign |
Het |
Dnah14 |
T |
A |
1: 181,449,398 (GRCm39) |
D574E |
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,091,680 (GRCm39) |
V2204M |
possibly damaging |
Het |
Ercc4 |
A |
T |
16: 12,943,125 (GRCm39) |
H178L |
probably benign |
Het |
Far2 |
T |
C |
6: 148,076,581 (GRCm39) |
F475L |
probably benign |
Het |
Ggt7 |
A |
G |
2: 155,359,959 (GRCm39) |
|
probably null |
Het |
Gm4131 |
T |
A |
14: 62,718,364 (GRCm39) |
T81S |
possibly damaging |
Het |
Gprc6a |
A |
G |
10: 51,491,173 (GRCm39) |
S788P |
probably damaging |
Het |
Hmgxb3 |
C |
A |
18: 61,270,672 (GRCm39) |
G884V |
possibly damaging |
Het |
Homer1 |
T |
A |
13: 93,502,945 (GRCm39) |
|
probably benign |
Het |
Iars1 |
T |
C |
13: 49,861,897 (GRCm39) |
S483P |
probably damaging |
Het |
Kansl1l |
C |
G |
1: 66,812,643 (GRCm39) |
E457Q |
probably damaging |
Het |
Krtap4-9 |
G |
A |
11: 99,676,481 (GRCm39) |
|
probably benign |
Het |
Lepr |
C |
A |
4: 101,649,220 (GRCm39) |
P874T |
probably damaging |
Het |
Mad2l2 |
T |
A |
4: 148,228,067 (GRCm39) |
F100L |
probably damaging |
Het |
Mavs |
A |
T |
2: 131,087,518 (GRCm39) |
R339* |
probably null |
Het |
Mettl1 |
G |
A |
10: 126,877,843 (GRCm39) |
|
probably benign |
Het |
Mfsd8 |
A |
G |
3: 40,774,031 (GRCm39) |
V493A |
possibly damaging |
Het |
Mtmr9 |
C |
T |
14: 63,779,901 (GRCm39) |
V63M |
possibly damaging |
Het |
Mto1 |
T |
C |
9: 78,368,131 (GRCm39) |
I425T |
possibly damaging |
Het |
Or2av9 |
A |
T |
11: 58,380,900 (GRCm39) |
M227K |
probably damaging |
Het |
Or5g29 |
A |
G |
2: 85,420,950 (GRCm39) |
Y22C |
probably benign |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Pclo |
C |
T |
5: 14,727,937 (GRCm39) |
|
probably benign |
Het |
Phf2 |
T |
C |
13: 48,969,533 (GRCm39) |
D608G |
unknown |
Het |
Plch2 |
T |
C |
4: 155,068,829 (GRCm39) |
T1266A |
probably benign |
Het |
Prdm12 |
A |
G |
2: 31,533,889 (GRCm39) |
N169D |
probably damaging |
Het |
Rimbp3 |
A |
G |
16: 17,030,134 (GRCm39) |
Y1186C |
probably damaging |
Het |
Serpinb3d |
T |
C |
1: 107,006,989 (GRCm39) |
M240V |
probably damaging |
Het |
Slc25a38 |
C |
T |
9: 119,945,658 (GRCm39) |
R74C |
probably damaging |
Het |
Slc25a39 |
A |
T |
11: 102,295,719 (GRCm39) |
Y109* |
probably null |
Het |
Slc26a8 |
T |
C |
17: 28,867,129 (GRCm39) |
N564S |
probably damaging |
Het |
Spag4 |
G |
A |
2: 155,907,696 (GRCm39) |
|
probably benign |
Het |
Stx1b |
A |
G |
7: 127,407,035 (GRCm39) |
M74T |
possibly damaging |
Het |
Tbc1d1 |
A |
G |
5: 64,507,242 (GRCm39) |
D1153G |
probably benign |
Het |
Tert |
T |
C |
13: 73,776,700 (GRCm39) |
F484L |
probably benign |
Het |
Tet1 |
A |
G |
10: 62,649,494 (GRCm39) |
V72A |
probably benign |
Het |
Tnfrsf13c |
T |
C |
15: 82,107,355 (GRCm39) |
T147A |
probably damaging |
Het |
Trpa1 |
A |
T |
1: 14,959,710 (GRCm39) |
Y659N |
probably damaging |
Het |
Trpm2 |
A |
G |
10: 77,761,516 (GRCm39) |
F1045L |
probably benign |
Het |
Ttc13 |
T |
C |
8: 125,405,772 (GRCm39) |
H529R |
probably benign |
Het |
Ttn |
T |
C |
2: 76,545,614 (GRCm39) |
T32570A |
probably damaging |
Het |
Uba7 |
A |
G |
9: 107,860,359 (GRCm39) |
T892A |
possibly damaging |
Het |
Uty |
A |
T |
Y: 1,174,836 (GRCm39) |
M195K |
probably benign |
Het |
Zfp109 |
A |
G |
7: 23,928,978 (GRCm39) |
S152P |
possibly damaging |
Het |
Zfp532 |
T |
C |
18: 65,777,281 (GRCm39) |
V846A |
probably damaging |
Het |
Zfp658 |
A |
T |
7: 43,223,951 (GRCm39) |
H742L |
possibly damaging |
Het |
Zfp831 |
C |
A |
2: 174,547,299 (GRCm39) |
P1494Q |
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 |
|
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 |
|
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'- ATTGTCTCCAAAGCGTCTGC -3'
(R):5'- CCATGTTCTCAAAGGCAGCC -3'
Sequencing Primer
(F):5'- TCAGAGGACCCCTGAGAAGC -3'
(R):5'- CCTCTGCAGACGTTCTAT -3'
|
Posted On |
2017-08-16 |