Incidental Mutation 'R9291:1110002E22Rik'
| ID |
704262 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
1110002E22Rik
|
| Ensembl Gene |
ENSMUSG00000090066 |
| Gene Name |
RIKEN cDNA 1110002E22 gene |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.544)
|
| Stock # |
R9291 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
138065052-138081506 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 138066703 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 551
(N551S)
|
| 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: N551S
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: N551S
| 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: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
C |
A |
17: 84,668,952 (GRCm38) |
V486L |
probably benign |
Het |
| Acoxl |
T |
A |
2: 127,972,573 (GRCm38) |
I303N |
probably damaging |
Het |
| Atp6v1h |
G |
T |
1: 5,150,061 (GRCm38) |
W464L |
probably null |
Het |
| Cdcp2 |
A |
G |
4: 107,106,856 (GRCm38) |
D301G |
probably damaging |
Het |
| Cenpv |
T |
C |
11: 62,538,862 (GRCm38) |
D115G |
probably benign |
Het |
| Cnfn |
T |
C |
7: 25,368,051 (GRCm38) |
D67G |
possibly damaging |
Het |
| Col27a1 |
A |
C |
4: 63,224,302 (GRCm38) |
I76L |
probably damaging |
Het |
| Crb2 |
G |
A |
2: 37,792,201 (GRCm38) |
V865I |
probably damaging |
Het |
| Ctf1 |
T |
A |
7: 127,717,032 (GRCm38) |
L58Q |
probably damaging |
Het |
| Dennd6b |
C |
T |
15: 89,187,387 (GRCm38) |
V276M |
possibly damaging |
Het |
| Dis3l2 |
A |
G |
1: 86,973,493 (GRCm38) |
T483A |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,191,161 (GRCm38) |
T223A |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 118,027,516 (GRCm38) |
E2372K |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,725,125 (GRCm38) |
I1772T |
probably damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,447,953 (GRCm38) |
I170T |
probably damaging |
Het |
| Ehd4 |
G |
T |
2: 120,091,274 (GRCm38) |
D500E |
probably damaging |
Het |
| Elac2 |
T |
C |
11: 64,992,316 (GRCm38) |
I388T |
probably damaging |
Het |
| Entpd6 |
G |
A |
2: 150,767,039 (GRCm38) |
V348M |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,012,850 (GRCm38) |
C1746* |
probably null |
Het |
| Exosc2 |
G |
T |
2: 31,670,859 (GRCm38) |
M40I |
probably benign |
Het |
| Fam193a |
T |
C |
5: 34,436,491 (GRCm38) |
Y27H |
probably damaging |
Het |
| Gm8005 |
A |
G |
14: 42,436,928 (GRCm38) |
F148L |
|
Het |
| Hectd4 |
T |
C |
5: 121,348,965 (GRCm38) |
V3341A |
probably benign |
Het |
| Hecw1 |
A |
G |
13: 14,316,937 (GRCm38) |
V77A |
probably benign |
Het |
| Irf2bp1 |
T |
A |
7: 19,004,533 (GRCm38) |
C33S |
probably damaging |
Het |
| Kank4 |
A |
T |
4: 98,778,451 (GRCm38) |
H586Q |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 25,900,013 (GRCm38) |
N619S |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,895,224 (GRCm38) |
E13G |
possibly damaging |
Het |
| Lrp2 |
A |
T |
2: 69,480,035 (GRCm38) |
D2731E |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,709,353 (GRCm38) |
N2942S |
probably benign |
Het |
| Maml3 |
G |
A |
3: 51,856,907 (GRCm38) |
T212M |
probably benign |
Het |
| Mill2 |
T |
C |
7: 18,841,491 (GRCm38) |
V41A |
probably benign |
Het |
| Moxd2 |
C |
A |
6: 40,880,428 (GRCm38) |
C466F |
probably damaging |
Het |
| Nefh |
A |
G |
11: 4,940,871 (GRCm38) |
S583P |
probably benign |
Het |
| Nlrp9b |
T |
A |
7: 20,024,586 (GRCm38) |
S583T |
possibly damaging |
Het |
| Nup214 |
T |
G |
2: 31,977,794 (GRCm38) |
M91R |
probably benign |
Het |
| Or4c121 |
A |
C |
2: 89,193,794 (GRCm38) |
M80R |
possibly damaging |
Het |
| Or6c206 |
T |
C |
10: 129,261,333 (GRCm38) |
I124T |
probably damaging |
Het |
| Or8k53 |
A |
T |
2: 86,347,424 (GRCm38) |
I114N |
probably benign |
Het |
| Otud4 |
A |
G |
8: 79,646,323 (GRCm38) |
Y90C |
probably damaging |
Het |
| Papln |
C |
A |
12: 83,778,510 (GRCm38) |
T575N |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,569,976 (GRCm38) |
N3417K |
probably damaging |
Het |
| Pop7 |
A |
G |
5: 137,501,649 (GRCm38) |
*141Q |
probably null |
Het |
| Pramel26 |
A |
T |
4: 143,812,681 (GRCm38) |
Y81N |
probably benign |
Het |
| Rchy1 |
A |
G |
5: 91,951,906 (GRCm38) |
L191S |
possibly damaging |
Het |
| Rims1 |
T |
C |
1: 22,397,522 (GRCm38) |
D296G |
|
Het |
| Sftpb |
T |
A |
6: 72,309,897 (GRCm38) |
C261* |
probably null |
Het |
| Sgcd |
C |
T |
11: 46,979,339 (GRCm38) |
C265Y |
probably damaging |
Het |
| Slc44a5 |
G |
A |
3: 154,256,581 (GRCm38) |
V384M |
possibly damaging |
Het |
| Slx4ip |
T |
A |
2: 137,046,796 (GRCm38) |
N132K |
probably benign |
Het |
| Sspo |
C |
T |
6: 48,496,396 (GRCm38) |
T4861M |
probably damaging |
Het |
| Swt1 |
T |
A |
1: 151,410,943 (GRCm38) |
E266V |
probably damaging |
Het |
| Tbc1d9 |
A |
G |
8: 83,261,121 (GRCm38) |
D903G |
probably damaging |
Het |
| Tbx18 |
A |
T |
9: 87,729,482 (GRCm38) |
M165K |
probably damaging |
Het |
| Tmem25 |
T |
C |
9: 44,795,502 (GRCm38) |
N282S |
probably damaging |
Het |
| Tom1l2 |
T |
C |
11: 60,262,730 (GRCm38) |
I140M |
probably benign |
Het |
| Trak2 |
A |
G |
1: 58,903,899 (GRCm38) |
S783P |
probably damaging |
Het |
| Trpv4 |
G |
A |
5: 114,630,007 (GRCm38) |
T534M |
probably benign |
Het |
| Ttc6 |
G |
T |
12: 57,575,944 (GRCm38) |
R43M |
probably damaging |
Het |
| Vmn1r194 |
A |
G |
13: 22,244,705 (GRCm38) |
Y164C |
probably benign |
Het |
| Vmn1r228 |
T |
C |
17: 20,776,761 (GRCm38) |
Y165C |
probably benign |
Het |
| Vps13b |
C |
A |
15: 35,846,913 (GRCm38) |
T2614K |
probably damaging |
Het |
| Zdhhc14 |
T |
C |
17: 5,647,962 (GRCm38) |
F102S |
probably benign |
Het |
| Zyg11b |
A |
G |
4: 108,250,817 (GRCm38) |
M464T |
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 |
|
|
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 |
|
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'- TTGGTGGCAGTGATGAGACC -3'
(R):5'- TAAGGGTAAGCAAGGCTCCG -3'
Sequencing Primer
(F):5'- GATGACAATAGCTGTTACGTCAG -3'
(R):5'- AAGGCCCTGGAGGTTAGGTTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation