Incidental Mutation 'R5373:1110002E22Rik'
| ID |
428853 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
1110002E22Rik
|
| Ensembl Gene |
ENSMUSG00000090066 |
| Gene Name |
RIKEN cDNA 1110002E22 gene |
| Synonyms |
|
| MMRRC Submission |
042949-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.544)
|
| Stock # |
R5373 (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 138067635 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 862
(S862G)
|
| 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: S862G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: S862G
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
96% (74/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410089E03Rik |
T |
C |
15: 8,270,803 (GRCm38) |
V3198A |
unknown |
Het |
| Abcb5 |
G |
T |
12: 118,887,177 (GRCm38) |
T887K |
probably damaging |
Het |
| Adgrf1 |
G |
A |
17: 43,291,005 (GRCm38) |
|
probably benign |
Het |
| Adss |
T |
G |
1: 177,796,388 (GRCm38) |
I3L |
probably benign |
Het |
| Anapc7 |
T |
A |
5: 122,438,217 (GRCm38) |
D302E |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,953,476 (GRCm38) |
|
probably null |
Het |
| Arpp21 |
T |
G |
9: 112,067,268 (GRCm38) |
M687L |
probably benign |
Het |
| Camkv |
T |
C |
9: 107,946,889 (GRCm38) |
S221P |
probably benign |
Het |
| Ccdc88a |
C |
T |
11: 29,463,409 (GRCm38) |
T649M |
possibly damaging |
Het |
| Cdh12 |
A |
C |
15: 21,583,912 (GRCm38) |
S613R |
probably damaging |
Het |
| Chsy1 |
C |
T |
7: 66,110,076 (GRCm38) |
Q56* |
probably null |
Het |
| Cisd2 |
A |
G |
3: 135,408,835 (GRCm38) |
V125A |
probably benign |
Het |
| Cntnap2 |
T |
A |
6: 47,107,969 (GRCm38) |
H1121Q |
probably benign |
Het |
| Corin |
A |
T |
5: 72,304,953 (GRCm38) |
C876S |
probably damaging |
Het |
| Cspp1 |
T |
G |
1: 10,134,126 (GRCm38) |
L1038R |
probably damaging |
Het |
| Cwc15 |
A |
G |
9: 14,504,938 (GRCm38) |
K147E |
possibly damaging |
Het |
| Dlgap2 |
A |
G |
8: 14,823,614 (GRCm38) |
D739G |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,369,189 (GRCm38) |
|
probably benign |
Het |
| Dnajc6 |
T |
C |
4: 101,615,627 (GRCm38) |
I317T |
probably damaging |
Het |
| Dpysl3 |
T |
C |
18: 43,361,036 (GRCm38) |
Y193C |
probably damaging |
Het |
| Dtna |
T |
C |
18: 23,651,613 (GRCm38) |
Y730H |
probably damaging |
Het |
| Dusp3 |
A |
G |
11: 101,984,625 (GRCm38) |
Y38H |
possibly damaging |
Het |
| Eif3m |
A |
T |
2: 105,012,932 (GRCm38) |
I151N |
probably damaging |
Het |
| Eml2 |
A |
T |
7: 19,179,263 (GRCm38) |
D62V |
possibly damaging |
Het |
| Epb41l3 |
C |
A |
17: 69,286,800 (GRCm38) |
H810N |
probably damaging |
Het |
| Evc2 |
C |
T |
5: 37,378,210 (GRCm38) |
R410W |
probably damaging |
Het |
| Fam169b |
T |
C |
7: 68,300,838 (GRCm38) |
Y13H |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,446,391 (GRCm38) |
T348A |
probably benign |
Het |
| Fezf2 |
A |
T |
14: 12,344,803 (GRCm38) |
V128E |
possibly damaging |
Het |
| Ighv3-5 |
A |
G |
12: 114,262,953 (GRCm38) |
S18P |
probably damaging |
Het |
| Kcnq5 |
T |
A |
1: 21,961,571 (GRCm38) |
H4L |
unknown |
Het |
| Kdm5d |
C |
T |
Y: 927,995 (GRCm38) |
P756S |
probably benign |
Het |
| Lig1 |
AG |
A |
7: 13,305,923 (GRCm38) |
|
probably null |
Het |
| Ly75 |
A |
T |
2: 60,311,771 (GRCm38) |
L1332M |
possibly damaging |
Het |
| Med1 |
T |
A |
11: 98,163,963 (GRCm38) |
K378N |
probably damaging |
Het |
| Mn1 |
A |
G |
5: 111,421,886 (GRCm38) |
|
probably null |
Het |
| Mpo |
T |
C |
11: 87,803,611 (GRCm38) |
|
probably null |
Het |
| Mtfr2 |
G |
T |
10: 20,352,852 (GRCm38) |
C48F |
probably benign |
Het |
| Nt5c |
G |
A |
11: 115,490,817 (GRCm38) |
|
probably null |
Het |
| Pcdhga4 |
T |
C |
18: 37,685,596 (GRCm38) |
V66A |
probably damaging |
Het |
| Pik3c3 |
T |
C |
18: 30,312,561 (GRCm38) |
S534P |
probably benign |
Het |
| Pla2g4e |
A |
T |
2: 120,186,395 (GRCm38) |
C222S |
probably benign |
Het |
| Plch1 |
A |
C |
3: 63,698,078 (GRCm38) |
H1468Q |
probably benign |
Het |
| Psd2 |
T |
A |
18: 36,007,503 (GRCm38) |
W610R |
probably damaging |
Het |
| Ptgs1 |
A |
T |
2: 36,251,186 (GRCm38) |
K548N |
probably damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,850,963 (GRCm38) |
M669T |
probably benign |
Het |
| Ptprf |
G |
T |
4: 118,226,041 (GRCm38) |
T923K |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,213,665 (GRCm38) |
N1011S |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,007,355 (GRCm38) |
V1639E |
probably damaging |
Het |
| Rgsl1 |
C |
T |
1: 153,790,307 (GRCm38) |
V986I |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,147,663 (GRCm38) |
C537R |
probably damaging |
Het |
| Rxfp2 |
A |
G |
5: 150,070,260 (GRCm38) |
T596A |
probably benign |
Het |
| Serpina3j |
A |
G |
12: 104,314,727 (GRCm38) |
D53G |
probably damaging |
Het |
| Slc26a7 |
A |
T |
4: 14,546,447 (GRCm38) |
I294N |
probably damaging |
Het |
| Slirp |
T |
C |
12: 87,449,422 (GRCm38) |
S96P |
possibly damaging |
Het |
| Snx6 |
T |
C |
12: 54,770,728 (GRCm38) |
E128G |
probably damaging |
Het |
| Spata6 |
T |
A |
4: 111,822,834 (GRCm38) |
|
probably null |
Het |
| Stap1 |
A |
G |
5: 86,090,928 (GRCm38) |
T152A |
possibly damaging |
Het |
| Susd5 |
G |
A |
9: 114,082,585 (GRCm38) |
G188R |
probably damaging |
Het |
| Thap2 |
A |
T |
10: 115,372,839 (GRCm38) |
Y125* |
probably null |
Het |
| Tnrc18 |
G |
A |
5: 142,740,156 (GRCm38) |
R1793C |
unknown |
Het |
| Ugt1a10 |
T |
A |
1: 88,055,910 (GRCm38) |
D143E |
probably damaging |
Het |
| Vmn1r85 |
A |
T |
7: 13,084,328 (GRCm38) |
Y296* |
probably null |
Het |
| Vmn2r71 |
C |
T |
7: 85,618,542 (GRCm38) |
T68I |
possibly damaging |
Het |
| Zc3h6 |
A |
T |
2: 129,002,156 (GRCm38) |
I207F |
possibly damaging |
Het |
| Zfp518a |
T |
C |
19: 40,913,510 (GRCm38) |
S628P |
probably benign |
Het |
| Zfp85 |
T |
C |
13: 67,749,458 (GRCm38) |
Y165C |
probably damaging |
Het |
| Zufsp |
T |
C |
10: 33,927,466 (GRCm38) |
N541D |
possibly 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 |
|
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'- GACATCTGAGAGTAGCAAGCC -3'
(R):5'- TCACCGTCTCTGAAGCACTC -3'
Sequencing Primer
(F):5'- TGATGGCCCCCAGAAGAAGTC -3'
(R):5'- CTCTGAAGCACTCTTTTTAATTTCAC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation