Incidental Mutation 'R7278:1110002E22Rik'
| ID |
571529 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
1110002E22Rik
|
| Ensembl Gene |
ENSMUSG00000090066 |
| Gene Name |
RIKEN cDNA 1110002E22 gene |
| Synonyms |
|
| MMRRC Submission |
045360-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.544)
|
| Stock # |
R7278 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
138065052-138081506 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 138065476 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 142
(L142P)
|
| 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: L142P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: L142P
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (78/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,291,126 |
R996S |
possibly damaging |
Het |
| Abcb6 |
A |
G |
1: 75,174,373 |
F558L |
possibly damaging |
Het |
| Acp7 |
T |
A |
7: 28,630,882 |
D2V |
unknown |
Het |
| Acvr1c |
T |
C |
2: 58,284,936 |
D280G |
probably damaging |
Het |
| Atp8a1 |
A |
G |
5: 67,624,037 |
S1124P |
|
Het |
| B4galnt1 |
A |
T |
10: 127,167,788 |
T207S |
probably benign |
Het |
| C2cd4d |
C |
A |
3: 94,364,138 |
T237N |
probably benign |
Het |
| C8b |
T |
C |
4: 104,780,627 |
C99R |
probably damaging |
Het |
| Ccnk |
C |
A |
12: 108,193,705 |
Q149K |
possibly damaging |
Het |
| Chfr |
A |
G |
5: 110,140,360 |
D47G |
probably benign |
Het |
| Chid1 |
A |
T |
7: 141,529,488 |
|
probably null |
Het |
| Cmya5 |
T |
A |
13: 93,095,700 |
E960V |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 77,096,284 |
S112P |
unknown |
Het |
| Cps1 |
G |
A |
1: 67,170,921 |
V637I |
probably damaging |
Het |
| Crispld1 |
A |
G |
1: 17,752,878 |
T390A |
probably benign |
Het |
| Cyp2c54 |
A |
T |
19: 40,070,253 |
L245* |
probably null |
Het |
| Ddr2 |
G |
T |
1: 169,984,961 |
T654K |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,791,791 |
|
probably null |
Het |
| Elavl4 |
C |
T |
4: 110,211,425 |
|
probably null |
Het |
| Emilin1 |
T |
C |
5: 30,920,660 |
V921A |
probably benign |
Het |
| Evpl |
T |
A |
11: 116,223,113 |
E1250D |
probably damaging |
Het |
| Fam228a |
C |
T |
12: 4,732,790 |
G101E |
probably benign |
Het |
| Fam92b |
T |
A |
8: 120,168,603 |
T187S |
possibly damaging |
Het |
| Gemin4 |
T |
C |
11: 76,212,106 |
T610A |
probably damaging |
Het |
| Glis1 |
T |
C |
4: 107,435,683 |
M1T |
probably null |
Het |
| Gm14399 |
C |
T |
2: 175,130,459 |
|
probably benign |
Het |
| Gorasp2 |
C |
T |
2: 70,679,505 |
T170I |
probably damaging |
Het |
| Gpr37 |
A |
G |
6: 25,669,342 |
V501A |
possibly damaging |
Het |
| Grik4 |
T |
A |
9: 42,622,060 |
Q388L |
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,551,125 |
D3035E |
probably damaging |
Het |
| Htr4 |
A |
T |
18: 62,412,176 |
N11Y |
probably benign |
Het |
| Itgb2l |
A |
G |
16: 96,429,043 |
S356P |
probably damaging |
Het |
| Klk1b22 |
A |
G |
7: 44,114,749 |
N34D |
probably benign |
Het |
| Lmcd1 |
A |
G |
6: 112,310,539 |
D62G |
possibly damaging |
Het |
| Lrp2 |
C |
T |
2: 69,486,352 |
G2095E |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,440,743 |
E4407V |
possibly damaging |
Het |
| Mcm5 |
T |
C |
8: 75,124,859 |
F631L |
probably benign |
Het |
| Mov10l1 |
A |
G |
15: 88,993,868 |
S170G |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,857,502 |
D1395V |
unknown |
Het |
| Muc6 |
G |
A |
7: 141,640,575 |
T1395M |
probably benign |
Het |
| Myh15 |
A |
G |
16: 49,091,105 |
D300G |
probably damaging |
Het |
| Nat6 |
T |
C |
9: 107,583,299 |
L131P |
probably damaging |
Het |
| Ndst4 |
A |
G |
3: 125,438,303 |
T174A |
probably benign |
Het |
| Nek5 |
T |
A |
8: 22,090,484 |
N406I |
probably benign |
Het |
| Nr2c2 |
G |
A |
6: 92,159,378 |
V400I |
probably damaging |
Het |
| Olfr364-ps1 |
G |
T |
2: 37,147,009 |
V266L |
probably benign |
Het |
| Olfr365 |
T |
C |
2: 37,202,080 |
Y280H |
probably damaging |
Het |
| Olfr449 |
G |
A |
6: 42,834,396 |
|
probably null |
Het |
| Olfr554 |
T |
C |
7: 102,640,983 |
S246P |
probably damaging |
Het |
| Olfr612 |
A |
T |
7: 103,538,728 |
Y169N |
probably benign |
Het |
| Olfr787 |
T |
A |
10: 129,462,751 |
I25N |
probably damaging |
Het |
| Parn |
T |
C |
16: 13,626,063 |
|
probably null |
Het |
| Pfkl |
T |
C |
10: 77,992,023 |
T468A |
probably damaging |
Het |
| Pi16 |
C |
A |
17: 29,319,234 |
P7Q |
possibly damaging |
Het |
| Plce1 |
T |
C |
19: 38,779,896 |
I2205T |
possibly damaging |
Het |
| Prss16 |
A |
T |
13: 22,003,147 |
N442K |
probably damaging |
Het |
| Pus7 |
A |
G |
5: 23,752,344 |
S370P |
probably damaging |
Het |
| Ripk3 |
G |
T |
14: 55,787,284 |
Y210* |
probably null |
Het |
| Rps6ka2 |
C |
A |
17: 7,271,635 |
F317L |
probably damaging |
Het |
| Slc13a3 |
G |
A |
2: 165,445,528 |
R169W |
possibly damaging |
Het |
| Slc6a21 |
T |
A |
7: 45,282,480 |
I256N |
possibly damaging |
Het |
| Slc6a9 |
G |
A |
4: 117,868,106 |
R589Q |
probably benign |
Het |
| Slc8a2 |
T |
C |
7: 16,141,152 |
S442P |
probably damaging |
Het |
| Snupn |
T |
A |
9: 56,982,744 |
M283K |
probably damaging |
Het |
| Steap3 |
A |
T |
1: 120,234,357 |
M395K |
probably damaging |
Het |
| Sv2b |
G |
A |
7: 75,147,654 |
P331S |
probably damaging |
Het |
| Tlr1 |
A |
G |
5: 64,926,772 |
V154A |
probably benign |
Het |
| Tmem131 |
A |
G |
1: 36,796,301 |
S1580P |
probably damaging |
Het |
| Tmem51 |
TCCCC |
TCCC |
4: 142,037,685 |
|
probably null |
Het |
| Trav14d-3-dv8 |
G |
A |
14: 53,078,761 |
R26H |
probably benign |
Het |
| Trp53 |
C |
T |
11: 69,591,255 |
L365F |
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,199,035 |
I1838N |
probably damaging |
Het |
| Ugt1a5 |
A |
T |
1: 88,166,886 |
K279* |
probably null |
Het |
| Unc80 |
A |
G |
1: 66,552,209 |
E1141G |
possibly damaging |
Het |
| Vti1b |
T |
C |
12: 79,166,379 |
D49G |
probably benign |
Het |
| Wnt10a |
A |
T |
1: 74,793,482 |
H78L |
possibly damaging |
Het |
| Zfp869 |
G |
A |
8: 69,706,478 |
H482Y |
probably damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,551,540 |
V638A |
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 |
|
|
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 |
|
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'- CAAGCAACTGGACTGGACAG -3'
(R):5'- CACACGTCTCCACATACTTGG -3'
Sequencing Primer
(F):5'- CAACTGGACTGGACAGCTCAG -3'
(R):5'- CCACATACTTGGCTTCAGGC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation