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 essential
(E-score: 0.544)
|
| Stock # |
R6092 (G1)
|
| Quality Score |
140.008 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
138065052-138081506 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 138068940 bp (GRCm38)
|
| 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: 60,853,647 (GRCm38) |
V89M |
probably benign |
Het |
| Abhd16a |
T |
C |
17: 35,098,810 (GRCm38) |
|
probably null |
Het |
| Abtb1 |
A |
C |
6: 88,838,451 (GRCm38) |
C264G |
probably benign |
Het |
| Ank3 |
G |
A |
10: 70,002,565 (GRCm38) |
R1566K |
possibly damaging |
Het |
| Arid1a |
C |
T |
4: 133,693,852 (GRCm38) |
G881R |
unknown |
Het |
| Asb8 |
A |
G |
15: 98,136,242 (GRCm38) |
V144A |
possibly damaging |
Het |
| Atm |
A |
C |
9: 53,524,414 (GRCm38) |
C199G |
probably damaging |
Het |
| Atxn1 |
C |
A |
13: 45,566,812 (GRCm38) |
V536L |
probably benign |
Het |
| Baz1a |
C |
T |
12: 54,909,083 (GRCm38) |
V1074M |
possibly damaging |
Het |
| BC034090 |
T |
A |
1: 155,224,913 (GRCm38) |
D535V |
probably damaging |
Het |
| Casp8ap2 |
C |
A |
4: 32,639,380 (GRCm38) |
H145N |
probably damaging |
Het |
| Ccdc24 |
T |
A |
4: 117,872,448 (GRCm38) |
K25* |
probably null |
Het |
| Ccdc91 |
A |
G |
6: 147,535,616 (GRCm38) |
N100S |
possibly damaging |
Het |
| Cdh7 |
A |
T |
1: 110,098,306 (GRCm38) |
Y424F |
probably benign |
Het |
| Clasp1 |
T |
C |
1: 118,510,298 (GRCm38) |
S612P |
probably damaging |
Het |
| Cxcl14 |
T |
C |
13: 56,295,833 (GRCm38) |
M55V |
possibly damaging |
Het |
| Dnah11 |
T |
C |
12: 117,928,456 (GRCm38) |
T3661A |
probably benign |
Het |
| Dnah14 |
T |
A |
1: 181,621,833 (GRCm38) |
D574E |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,114,697 (GRCm38) |
V2204M |
possibly damaging |
Het |
| Ercc4 |
A |
T |
16: 13,125,261 (GRCm38) |
H178L |
probably benign |
Het |
| Far2 |
T |
C |
6: 148,175,083 (GRCm38) |
F475L |
probably benign |
Het |
| Ggt7 |
A |
G |
2: 155,518,039 (GRCm38) |
|
probably null |
Het |
| Gm4131 |
T |
A |
14: 62,480,915 (GRCm38) |
T81S |
possibly damaging |
Het |
| Gprc6a |
A |
G |
10: 51,615,077 (GRCm38) |
S788P |
probably damaging |
Het |
| Hmgxb3 |
C |
A |
18: 61,137,600 (GRCm38) |
G884V |
possibly damaging |
Het |
| Homer1 |
T |
A |
13: 93,366,437 (GRCm38) |
|
probably benign |
Het |
| Iars |
T |
C |
13: 49,708,421 (GRCm38) |
S483P |
probably damaging |
Het |
| Kansl1l |
C |
G |
1: 66,773,484 (GRCm38) |
E457Q |
probably damaging |
Het |
| Krtap4-9 |
G |
A |
11: 99,785,655 (GRCm38) |
|
probably benign |
Het |
| Lepr |
C |
A |
4: 101,792,023 (GRCm38) |
P874T |
probably damaging |
Het |
| Mad2l2 |
T |
A |
4: 148,143,610 (GRCm38) |
F100L |
probably damaging |
Het |
| Mavs |
A |
T |
2: 131,245,598 (GRCm38) |
R339* |
probably null |
Het |
| Mettl1 |
G |
A |
10: 127,041,974 (GRCm38) |
|
probably benign |
Het |
| Mfsd8 |
A |
G |
3: 40,819,596 (GRCm38) |
V493A |
possibly damaging |
Het |
| Mtmr9 |
C |
T |
14: 63,542,452 (GRCm38) |
V63M |
possibly damaging |
Het |
| Mto1 |
T |
C |
9: 78,460,849 (GRCm38) |
I425T |
possibly damaging |
Het |
| Olfr332 |
A |
T |
11: 58,490,074 (GRCm38) |
M227K |
probably damaging |
Het |
| Olfr883 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 38,026,540 (GRCm38) |
|
probably null |
Het |
| Olfr998 |
A |
G |
2: 85,590,606 (GRCm38) |
Y22C |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,677,923 (GRCm38) |
|
probably benign |
Het |
| Phf2 |
T |
C |
13: 48,816,057 (GRCm38) |
D608G |
unknown |
Het |
| Plch2 |
T |
C |
4: 154,984,372 (GRCm38) |
T1266A |
probably benign |
Het |
| Prdm12 |
A |
G |
2: 31,643,877 (GRCm38) |
N169D |
probably damaging |
Het |
| Rimbp3 |
A |
G |
16: 17,212,270 (GRCm38) |
Y1186C |
probably damaging |
Het |
| Serpinb3d |
T |
C |
1: 107,079,259 (GRCm38) |
M240V |
probably damaging |
Het |
| Slc25a38 |
C |
T |
9: 120,116,592 (GRCm38) |
R74C |
probably damaging |
Het |
| Slc25a39 |
A |
T |
11: 102,404,893 (GRCm38) |
Y109* |
probably null |
Het |
| Slc26a8 |
T |
C |
17: 28,648,155 (GRCm38) |
N564S |
probably damaging |
Het |
| Spag4 |
G |
A |
2: 156,065,776 (GRCm38) |
|
probably benign |
Het |
| Stx1b |
A |
G |
7: 127,807,863 (GRCm38) |
M74T |
possibly damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,349,899 (GRCm38) |
D1153G |
probably benign |
Het |
| Tert |
T |
C |
13: 73,628,581 (GRCm38) |
F484L |
probably benign |
Het |
| Tet1 |
A |
G |
10: 62,813,715 (GRCm38) |
V72A |
probably benign |
Het |
| Tnfrsf13c |
T |
C |
15: 82,223,154 (GRCm38) |
T147A |
probably damaging |
Het |
| Trpa1 |
A |
T |
1: 14,889,486 (GRCm38) |
Y659N |
probably damaging |
Het |
| Trpm2 |
A |
G |
10: 77,925,682 (GRCm38) |
F1045L |
probably benign |
Het |
| Ttc13 |
T |
C |
8: 124,679,033 (GRCm38) |
H529R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,715,270 (GRCm38) |
T32570A |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,983,160 (GRCm38) |
T892A |
possibly damaging |
Het |
| Uty |
A |
T |
Y: 1,174,836 (GRCm38) |
M195K |
probably benign |
Het |
| Zfp109 |
A |
G |
7: 24,229,553 (GRCm38) |
S152P |
possibly damaging |
Het |
| Zfp532 |
T |
C |
18: 65,644,210 (GRCm38) |
V846A |
probably damaging |
Het |
| Zfp658 |
A |
T |
7: 43,574,527 (GRCm38) |
H742L |
possibly damaging |
Het |
| Zfp831 |
C |
A |
2: 174,705,506 (GRCm38) |
P1494Q |
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 |
|
R1648:1110002E22Rik
|
UTSW |
3 |
138,069,420 (GRCm38) |
missense |
probably benign |
0.18 |
|
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 |
|
|
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'- ATTGTCTCCAAAGCGTCTGC -3'
(R):5'- CCATGTTCTCAAAGGCAGCC -3'
Sequencing Primer
(F):5'- TCAGAGGACCCCTGAGAAGC -3'
(R):5'- CCTCTGCAGACGTTCTAT -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation