Incidental Mutation 'R6920:1110002E22Rik'
| ID |
539562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
1110002E22Rik
|
| Ensembl Gene |
ENSMUSG00000090066 |
| Gene Name |
RIKEN cDNA 1110002E22 gene |
| Synonyms |
|
| MMRRC Submission |
045040-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.544)
|
| Stock # |
R6920 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
138065052-138081506 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 138068050 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 1000
(Y1000F)
|
| 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 damaging
Transcript: ENSMUST00000163080
AA Change: Y1000F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: Y1000F
| 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: 99.9%
- 10x: 99.1%
- 20x: 97.2%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
A |
G |
8: 121,535,421 (GRCm38) |
|
probably null |
Het |
| Aadat |
T |
C |
8: 60,529,433 (GRCm38) |
F245L |
probably damaging |
Het |
| Adcy10 |
T |
G |
1: 165,575,658 (GRCm38) |
L1575W |
probably damaging |
Het |
| Anks4b |
A |
T |
7: 120,183,008 (GRCm38) |
T421S |
probably damaging |
Het |
| Anpep |
A |
T |
7: 79,825,349 (GRCm38) |
I155N |
probably damaging |
Het |
| Arnt |
T |
C |
3: 95,490,621 (GRCm38) |
F572L |
probably damaging |
Het |
| Brip1 |
G |
A |
11: 86,148,536 (GRCm38) |
Q391* |
probably null |
Het |
| Brpf3 |
C |
A |
17: 28,823,996 (GRCm38) |
H1004N |
probably benign |
Het |
| Cand2 |
T |
A |
6: 115,791,289 (GRCm38) |
V465D |
possibly damaging |
Het |
| Card10 |
G |
T |
15: 78,802,409 (GRCm38) |
Y69* |
probably null |
Het |
| Catsperd |
A |
T |
17: 56,655,175 (GRCm38) |
K450* |
probably null |
Het |
| Ccdc137 |
T |
C |
11: 120,460,183 (GRCm38) |
L137P |
probably damaging |
Het |
| Cic |
T |
C |
7: 25,290,682 (GRCm38) |
S1905P |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,644,205 (GRCm38) |
G2971S |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,472,212 (GRCm38) |
Y183H |
probably damaging |
Het |
| Drosha |
T |
C |
15: 12,834,310 (GRCm38) |
Y167H |
unknown |
Het |
| E330034G19Rik |
A |
G |
14: 24,308,242 (GRCm38) |
K214R |
unknown |
Het |
| Fam180a |
T |
G |
6: 35,313,830 (GRCm38) |
I73L |
possibly damaging |
Het |
| Fbxo28 |
G |
T |
1: 182,341,421 (GRCm38) |
H51N |
probably benign |
Het |
| Gm12728 |
T |
G |
4: 105,790,336 (GRCm38) |
|
probably null |
Het |
| Gm973 |
T |
C |
1: 59,552,461 (GRCm38) |
C335R |
possibly damaging |
Het |
| Gpx8 |
A |
G |
13: 113,043,236 (GRCm38) |
V177A |
probably damaging |
Het |
| Hdlbp |
A |
G |
1: 93,412,361 (GRCm38) |
|
probably null |
Het |
| Htt |
T |
G |
5: 34,877,100 (GRCm38) |
Y1972D |
probably null |
Het |
| Igkv6-14 |
T |
C |
6: 70,435,132 (GRCm38) |
Y56C |
possibly damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,526,534 (GRCm38) |
|
probably null |
Het |
| Klc1 |
T |
C |
12: 111,787,585 (GRCm38) |
S105P |
probably damaging |
Het |
| Klhl20 |
T |
C |
1: 161,093,696 (GRCm38) |
D63G |
possibly damaging |
Het |
| Lamc3 |
A |
G |
2: 31,908,689 (GRCm38) |
D469G |
probably damaging |
Het |
| Lrit1 |
G |
C |
14: 37,060,095 (GRCm38) |
V242L |
probably damaging |
Het |
| Mboat4 |
G |
A |
8: 34,124,711 (GRCm38) |
R434H |
probably benign |
Het |
| Mttp |
T |
C |
3: 138,115,282 (GRCm38) |
K270E |
possibly damaging |
Het |
| Muc5ac |
G |
A |
7: 141,793,298 (GRCm38) |
C337Y |
possibly damaging |
Het |
| Nars |
A |
G |
18: 64,501,400 (GRCm38) |
V484A |
probably damaging |
Het |
| Noxa1 |
G |
T |
2: 25,091,832 (GRCm38) |
|
probably null |
Het |
| Olfr297 |
A |
G |
7: 86,527,314 (GRCm38) |
T186A |
probably benign |
Het |
| Olfr830 |
T |
A |
9: 18,875,525 (GRCm38) |
L63H |
probably damaging |
Het |
| Osbpl7 |
G |
A |
11: 97,050,758 (GRCm38) |
G36S |
probably damaging |
Het |
| P4htm |
C |
T |
9: 108,583,613 (GRCm38) |
G220D |
probably benign |
Het |
| Pcdhga7 |
A |
G |
18: 37,715,146 (GRCm38) |
I69V |
probably benign |
Het |
| Pla2g4e |
C |
T |
2: 120,185,314 (GRCm38) |
E250K |
possibly damaging |
Het |
| Plcd4 |
A |
G |
1: 74,565,835 (GRCm38) |
|
probably benign |
Het |
| Ppfia3 |
C |
A |
7: 45,358,807 (GRCm38) |
G213V |
possibly damaging |
Het |
| Ppp1r1a |
A |
G |
15: 103,533,086 (GRCm38) |
S67P |
probably damaging |
Het |
| Prss43 |
T |
C |
9: 110,828,612 (GRCm38) |
F193S |
probably benign |
Het |
| Rfx1 |
A |
G |
8: 84,095,488 (GRCm38) |
Y872C |
probably damaging |
Het |
| Rhot1 |
T |
A |
11: 80,242,095 (GRCm38) |
N218K |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,030,393 (GRCm38) |
F1028L |
probably damaging |
Het |
| Siglec1 |
G |
A |
2: 131,078,077 (GRCm38) |
Q845* |
probably null |
Het |
| Slc38a9 |
C |
T |
13: 112,701,526 (GRCm38) |
T275I |
possibly damaging |
Het |
| Slc39a4 |
A |
T |
15: 76,613,270 (GRCm38) |
S481T |
probably damaging |
Het |
| Ssr1 |
A |
T |
13: 37,986,022 (GRCm38) |
N191K |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,895,550 (GRCm38) |
S2258C |
probably damaging |
Het |
| Tm7sf3 |
T |
G |
6: 146,606,147 (GRCm38) |
R472S |
possibly damaging |
Het |
| Tmprss11a |
G |
A |
5: 86,428,635 (GRCm38) |
T119M |
probably benign |
Het |
| Traip |
C |
T |
9: 107,961,041 (GRCm38) |
R142* |
probably null |
Het |
| Utrn |
T |
C |
10: 12,750,470 (GRCm38) |
N100D |
probably damaging |
Het |
| Vmn1r74 |
T |
C |
7: 11,847,648 (GRCm38) |
S292P |
probably benign |
Het |
| Vmn2r71 |
A |
T |
7: 85,623,900 (GRCm38) |
I641F |
probably damaging |
Het |
| Vmn2r9 |
T |
A |
5: 108,849,046 (GRCm38) |
Y119F |
possibly damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,065,248 (GRCm38) |
N110S |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,664,693 (GRCm38) |
T928A |
probably benign |
Het |
| Zfp608 |
T |
A |
18: 54,988,265 (GRCm38) |
K83N |
probably damaging |
Het |
| Zfp808 |
A |
G |
13: 62,173,168 (GRCm38) |
H737R |
probably benign |
Het |
| Zswim4 |
T |
C |
8: 84,214,085 (GRCm38) |
N795S |
probably benign |
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 |
|
|
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 |
|
|
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'- GCATCTTCCTTCGGAGTCAG -3'
(R):5'- ATGGTCTTGAAGAGCTTTGAGC -3'
Sequencing Primer
(F):5'- ATCTTCCTTCGGAGTCAGAACAG -3'
(R):5'- CTTTGAGCTGCTGCCGCTG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation