Incidental Mutation 'R8911:2210408I21Rik'
| ID |
678647 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2210408I21Rik
|
| Ensembl Gene |
ENSMUSG00000071252 |
| Gene Name |
RIKEN cDNA 2210408I21 gene |
| Synonyms |
|
| MMRRC Submission |
068764-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8911 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
77283659-77761903 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77429234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 774
(I774F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168779]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168779
AA Change: I774F
PolyPhen 2
Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000127449
Gene: ENSMUSG00000071252
AA Change: I774F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
121 |
133 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
164 |
N/A |
INTRINSIC |
|
Pfam:DUF4495
|
515 |
832 |
1.6e-140 |
PFAM |
|
low complexity region
|
1241 |
1255 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (76/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
T |
14: 32,383,626 (GRCm39) |
C780S |
possibly damaging |
Het |
| Abca12 |
T |
C |
1: 71,380,690 (GRCm39) |
D306G |
probably benign |
Het |
| Adgrl2 |
T |
C |
3: 148,558,163 (GRCm39) |
|
probably benign |
Het |
| Agt |
T |
C |
8: 125,291,184 (GRCm39) |
Y41C |
probably benign |
Het |
| Alx3 |
G |
T |
3: 107,511,603 (GRCm39) |
R204L |
probably damaging |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Bcl11a |
C |
T |
11: 24,114,763 (GRCm39) |
P702L |
probably damaging |
Het |
| Bpifa2 |
A |
G |
2: 153,851,090 (GRCm39) |
N17S |
probably benign |
Het |
| Cabcoco1 |
T |
C |
10: 68,377,584 (GRCm39) |
D35G |
probably benign |
Het |
| Cd69 |
T |
C |
6: 129,252,187 (GRCm39) |
K21R |
probably benign |
Het |
| Cdhr18 |
T |
C |
14: 13,823,796 (GRCm38) |
|
probably null |
Het |
| Cntn4 |
T |
C |
6: 106,330,743 (GRCm39) |
|
probably null |
Het |
| Cntnap5c |
A |
C |
17: 58,506,043 (GRCm39) |
N689T |
probably damaging |
Het |
| Cog5 |
A |
G |
12: 31,883,238 (GRCm39) |
Y389C |
probably damaging |
Het |
| Col5a1 |
T |
C |
2: 27,887,630 (GRCm39) |
|
probably null |
Het |
| Coro1b |
G |
A |
19: 4,200,803 (GRCm39) |
R245Q |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,748,019 (GRCm39) |
D244G |
probably damaging |
Het |
| Ctcfl |
C |
T |
2: 172,937,121 (GRCm39) |
|
probably null |
Het |
| Dpy19l4 |
G |
A |
4: 11,317,078 (GRCm39) |
P40L |
possibly damaging |
Het |
| Dsg4 |
C |
A |
18: 20,584,929 (GRCm39) |
Y214* |
probably null |
Het |
| Eapp |
A |
T |
12: 54,739,440 (GRCm39) |
|
probably benign |
Het |
| Fmo6 |
T |
C |
1: 162,748,114 (GRCm39) |
T317A |
possibly damaging |
Het |
| Gm11595 |
A |
G |
11: 99,663,564 (GRCm39) |
C39R |
unknown |
Het |
| Golim4 |
T |
C |
3: 75,813,703 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
G |
A |
12: 16,740,903 (GRCm39) |
S1393L |
possibly damaging |
Het |
| Guca1b |
A |
G |
17: 47,700,044 (GRCm39) |
I73V |
probably benign |
Het |
| Hdac7 |
C |
T |
15: 97,694,789 (GRCm39) |
V796I |
possibly damaging |
Het |
| Hectd1 |
A |
G |
12: 51,795,616 (GRCm39) |
I2271T |
probably damaging |
Het |
| Heg1 |
T |
G |
16: 33,558,627 (GRCm39) |
Y1066* |
probably null |
Het |
| Helz2 |
C |
A |
2: 180,880,173 (GRCm39) |
K514N |
|
Het |
| Ice1 |
C |
T |
13: 70,740,787 (GRCm39) |
R70Q |
|
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Itgae |
A |
G |
11: 73,004,447 (GRCm39) |
T245A |
probably damaging |
Het |
| Jhy |
G |
A |
9: 40,822,453 (GRCm39) |
Q562* |
probably null |
Het |
| Khnyn |
A |
G |
14: 56,124,735 (GRCm39) |
R330G |
probably benign |
Het |
| Lamc2 |
A |
T |
1: 153,027,873 (GRCm39) |
C184S |
probably damaging |
Het |
| Lhx5 |
T |
A |
5: 120,574,509 (GRCm39) |
L271* |
probably null |
Het |
| Magel2 |
G |
A |
7: 62,029,537 (GRCm39) |
V814M |
unknown |
Het |
| Manf |
A |
G |
9: 106,767,461 (GRCm39) |
I85T |
possibly damaging |
Het |
| Mgmt |
A |
G |
7: 136,729,794 (GRCm39) |
T203A |
probably benign |
Het |
| Mmp9 |
C |
T |
2: 164,794,568 (GRCm39) |
S520F |
possibly damaging |
Het |
| Myrip |
A |
G |
9: 120,270,484 (GRCm39) |
E578G |
possibly damaging |
Het |
| Naaladl2 |
A |
G |
3: 23,900,757 (GRCm39) |
M691T |
probably damaging |
Het |
| Ncln |
C |
T |
10: 81,323,519 (GRCm39) |
V51I |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or4c112 |
T |
C |
2: 88,854,294 (GRCm39) |
N18D |
probably benign |
Het |
| Or4c117 |
T |
C |
2: 88,955,608 (GRCm39) |
I156V |
probably benign |
Het |
| Pcdhga12 |
A |
T |
18: 37,900,118 (GRCm39) |
M317L |
possibly damaging |
Het |
| Pcnt |
T |
G |
10: 76,223,359 (GRCm39) |
K1941T |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,650,917 (GRCm39) |
M896K |
probably benign |
Het |
| Pfkfb3 |
A |
T |
2: 11,487,254 (GRCm39) |
|
probably null |
Het |
| Pik3cb |
A |
G |
9: 98,946,201 (GRCm39) |
S542P |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,247,257 (GRCm39) |
V822A |
probably benign |
Het |
| Plcl2 |
G |
T |
17: 50,915,141 (GRCm39) |
G717C |
probably damaging |
Het |
| Ptprs |
C |
T |
17: 56,730,320 (GRCm39) |
A1185T |
probably benign |
Het |
| Ptpru |
T |
A |
4: 131,503,560 (GRCm39) |
I1157F |
probably damaging |
Het |
| Rbbp6 |
A |
G |
7: 122,591,268 (GRCm39) |
T457A |
possibly damaging |
Het |
| Rdh16f2 |
A |
G |
10: 127,712,812 (GRCm39) |
E270G |
probably damaging |
Het |
| Rrp15 |
C |
T |
1: 186,453,641 (GRCm39) |
E269K |
unknown |
Het |
| Sec23b |
T |
C |
2: 144,401,316 (GRCm39) |
V59A |
probably benign |
Het |
| Slc22a21 |
A |
T |
11: 53,846,809 (GRCm39) |
|
probably null |
Het |
| Sp5 |
C |
A |
2: 70,306,962 (GRCm39) |
P216T |
probably benign |
Het |
| Synj1 |
A |
T |
16: 90,775,622 (GRCm39) |
D385E |
probably damaging |
Het |
| Trim37 |
C |
T |
11: 87,097,629 (GRCm39) |
S808F |
possibly damaging |
Het |
| Tsks |
A |
T |
7: 44,592,694 (GRCm39) |
|
probably benign |
Het |
| Upf1 |
A |
T |
8: 70,791,087 (GRCm39) |
S563T |
possibly damaging |
Het |
| Upf2 |
A |
G |
2: 5,987,893 (GRCm39) |
D580G |
unknown |
Het |
| Usp14 |
A |
G |
18: 9,996,194 (GRCm39) |
I462T |
probably damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vmn1r184 |
C |
G |
7: 25,966,310 (GRCm39) |
Q19E |
possibly damaging |
Het |
| Vps50 |
C |
A |
6: 3,516,710 (GRCm39) |
A64E |
probably benign |
Het |
| Zc3h11a |
T |
A |
1: 133,566,339 (GRCm39) |
N211I |
probably damaging |
Het |
| Zfp518a |
A |
C |
19: 40,901,870 (GRCm39) |
K600Q |
possibly damaging |
Het |
| Zfp729a |
A |
T |
13: 67,768,061 (GRCm39) |
S723T |
probably benign |
Het |
| Zmynd12 |
A |
T |
4: 119,294,286 (GRCm39) |
I88F |
probably damaging |
Het |
|
| Other mutations in 2210408I21Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00164:2210408I21Rik
|
APN |
13 |
77,471,477 (GRCm39) |
splice site |
probably benign |
|
|
IGL01154:2210408I21Rik
|
APN |
13 |
77,429,213 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01461:2210408I21Rik
|
APN |
13 |
77,429,214 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01624:2210408I21Rik
|
APN |
13 |
77,341,205 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02033:2210408I21Rik
|
APN |
13 |
77,407,995 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02621:2210408I21Rik
|
APN |
13 |
77,408,150 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02718:2210408I21Rik
|
APN |
13 |
77,322,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02823:2210408I21Rik
|
APN |
13 |
77,410,074 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02859:2210408I21Rik
|
APN |
13 |
77,415,818 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL03006:2210408I21Rik
|
APN |
13 |
77,471,891 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03072:2210408I21Rik
|
APN |
13 |
77,408,116 (GRCm39) |
missense |
probably benign |
|
|
IGL03184:2210408I21Rik
|
APN |
13 |
77,471,570 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL03275:2210408I21Rik
|
APN |
13 |
77,446,674 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
PIT4651001:2210408I21Rik
|
UTSW |
13 |
77,408,014 (GRCm39) |
missense |
probably benign |
|
|
R0226:2210408I21Rik
|
UTSW |
13 |
77,451,544 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0323:2210408I21Rik
|
UTSW |
13 |
77,446,674 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0614:2210408I21Rik
|
UTSW |
13 |
77,340,782 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0894:2210408I21Rik
|
UTSW |
13 |
77,471,726 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1165:2210408I21Rik
|
UTSW |
13 |
77,482,406 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1509:2210408I21Rik
|
UTSW |
13 |
77,340,766 (GRCm39) |
missense |
probably benign |
|
|
R1711:2210408I21Rik
|
UTSW |
13 |
77,418,039 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1714:2210408I21Rik
|
UTSW |
13 |
77,464,479 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1718:2210408I21Rik
|
UTSW |
13 |
77,393,489 (GRCm39) |
intron |
probably benign |
|
|
R1836:2210408I21Rik
|
UTSW |
13 |
77,471,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1893:2210408I21Rik
|
UTSW |
13 |
77,415,928 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2035:2210408I21Rik
|
UTSW |
13 |
77,760,761 (GRCm39) |
makesense |
probably null |
|
|
R2329:2210408I21Rik
|
UTSW |
13 |
77,451,444 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2897:2210408I21Rik
|
UTSW |
13 |
77,471,640 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3688:2210408I21Rik
|
UTSW |
13 |
77,415,968 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4153:2210408I21Rik
|
UTSW |
13 |
77,341,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4387:2210408I21Rik
|
UTSW |
13 |
77,464,693 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4388:2210408I21Rik
|
UTSW |
13 |
77,464,693 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4499:2210408I21Rik
|
UTSW |
13 |
77,464,646 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4614:2210408I21Rik
|
UTSW |
13 |
77,402,375 (GRCm39) |
splice site |
probably null |
|
|
R4798:2210408I21Rik
|
UTSW |
13 |
77,471,843 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4943:2210408I21Rik
|
UTSW |
13 |
77,393,446 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5045:2210408I21Rik
|
UTSW |
13 |
77,415,927 (GRCm39) |
splice site |
probably null |
|
|
R5387:2210408I21Rik
|
UTSW |
13 |
77,408,092 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5500:2210408I21Rik
|
UTSW |
13 |
77,451,508 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5686:2210408I21Rik
|
UTSW |
13 |
77,451,433 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6111:2210408I21Rik
|
UTSW |
13 |
77,476,021 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6135:2210408I21Rik
|
UTSW |
13 |
77,402,335 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6188:2210408I21Rik
|
UTSW |
13 |
77,331,850 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6388:2210408I21Rik
|
UTSW |
13 |
77,410,230 (GRCm39) |
missense |
probably benign |
|
|
R6588:2210408I21Rik
|
UTSW |
13 |
77,340,766 (GRCm39) |
missense |
probably benign |
|
|
R6632:2210408I21Rik
|
UTSW |
13 |
77,429,186 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6638:2210408I21Rik
|
UTSW |
13 |
77,451,521 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6755:2210408I21Rik
|
UTSW |
13 |
77,475,994 (GRCm39) |
missense |
probably benign |
|
|
R6971:2210408I21Rik
|
UTSW |
13 |
77,341,306 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7079:2210408I21Rik
|
UTSW |
13 |
77,402,323 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7130:2210408I21Rik
|
UTSW |
13 |
77,418,021 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7215:2210408I21Rik
|
UTSW |
13 |
77,471,690 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7272:2210408I21Rik
|
UTSW |
13 |
77,471,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7331:2210408I21Rik
|
UTSW |
13 |
77,331,728 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7561:2210408I21Rik
|
UTSW |
13 |
77,341,314 (GRCm39) |
missense |
probably benign |
|
|
R7684:2210408I21Rik
|
UTSW |
13 |
77,760,659 (GRCm39) |
nonsense |
probably null |
|
|
R7728:2210408I21Rik
|
UTSW |
13 |
77,464,596 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7881:2210408I21Rik
|
UTSW |
13 |
77,471,685 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7963:2210408I21Rik
|
UTSW |
13 |
77,340,673 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8008:2210408I21Rik
|
UTSW |
13 |
77,429,234 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8024:2210408I21Rik
|
UTSW |
13 |
77,760,713 (GRCm39) |
missense |
probably benign |
|
|
R8170:2210408I21Rik
|
UTSW |
13 |
77,411,713 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8201:2210408I21Rik
|
UTSW |
13 |
77,341,278 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8255:2210408I21Rik
|
UTSW |
13 |
77,415,850 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8296:2210408I21Rik
|
UTSW |
13 |
77,415,896 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8476:2210408I21Rik
|
UTSW |
13 |
77,410,020 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8526:2210408I21Rik
|
UTSW |
13 |
77,417,935 (GRCm39) |
nonsense |
probably null |
|
|
R8746:2210408I21Rik
|
UTSW |
13 |
77,451,529 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8812:2210408I21Rik
|
UTSW |
13 |
77,480,471 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8870:2210408I21Rik
|
UTSW |
13 |
77,471,840 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8885:2210408I21Rik
|
UTSW |
13 |
77,471,525 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8910:2210408I21Rik
|
UTSW |
13 |
77,471,768 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8965:2210408I21Rik
|
UTSW |
13 |
77,760,723 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8968:2210408I21Rik
|
UTSW |
13 |
77,480,429 (GRCm39) |
nonsense |
probably null |
|
|
R8989:2210408I21Rik
|
UTSW |
13 |
77,760,724 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9163:2210408I21Rik
|
UTSW |
13 |
77,393,400 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9378:2210408I21Rik
|
UTSW |
13 |
77,471,735 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9478:2210408I21Rik
|
UTSW |
13 |
77,451,573 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9523:2210408I21Rik
|
UTSW |
13 |
77,407,988 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9595:2210408I21Rik
|
UTSW |
13 |
77,464,566 (GRCm39) |
missense |
probably benign |
|
|
X0066:2210408I21Rik
|
UTSW |
13 |
77,331,759 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
Z1088:2210408I21Rik
|
UTSW |
13 |
77,323,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGGCATAACTATACCTTCCTC -3'
(R):5'- GGTGCAGAACTGTAAAATCCCC -3'
Sequencing Primer
(F):5'- ACCTTCCTCTATGTAAGGATTGTTC -3'
(R):5'- GAAGTTCTCAAAATCTACCTTTTCCC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation