Incidental Mutation 'R8296:2210408I21Rik'
| ID |
638965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2210408I21Rik
|
| Ensembl Gene |
ENSMUSG00000071252 |
| Gene Name |
RIKEN cDNA 2210408I21 gene |
| Synonyms |
|
| MMRRC Submission |
067785-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8296 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
77283659-77761903 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77415896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 663
(L663Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168779]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168779
AA Change: L663Q
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127449
Gene: ENSMUSG00000071252
AA Change: L663Q
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (77/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
C |
G |
10: 78,903,568 (GRCm39) |
R249S |
probably benign |
Het |
| 6030469F06Rik |
A |
G |
12: 31,235,058 (GRCm39) |
N146S |
noncoding transcript |
Het |
| Abcb5 |
G |
A |
12: 118,838,467 (GRCm39) |
P1032S |
probably benign |
Het |
| Acvr2a |
A |
T |
2: 48,789,736 (GRCm39) |
D493V |
possibly damaging |
Het |
| Amacr |
A |
G |
15: 10,995,004 (GRCm39) |
D272G |
probably benign |
Het |
| Bach1 |
A |
C |
16: 87,526,467 (GRCm39) |
K643T |
probably damaging |
Het |
| Bmt2 |
T |
C |
6: 13,628,672 (GRCm39) |
Y337C |
probably damaging |
Het |
| Bsn |
A |
G |
9: 107,994,578 (GRCm39) |
S566P |
probably benign |
Het |
| Cass4 |
A |
C |
2: 172,269,094 (GRCm39) |
D392A |
probably benign |
Het |
| Cbx2 |
A |
G |
11: 118,918,954 (GRCm39) |
E173G |
probably damaging |
Het |
| Ccdc166 |
G |
C |
15: 75,852,860 (GRCm39) |
A369G |
probably benign |
Het |
| Ccdc77 |
G |
A |
6: 120,308,870 (GRCm39) |
T315M |
possibly damaging |
Het |
| Ceacam10 |
C |
A |
7: 24,480,513 (GRCm39) |
H215N |
unknown |
Het |
| Ces1e |
C |
T |
8: 93,929,947 (GRCm39) |
M445I |
probably benign |
Het |
| Ces2b |
T |
G |
8: 105,563,112 (GRCm39) |
V350G |
possibly damaging |
Het |
| Chtf18 |
A |
G |
17: 25,941,165 (GRCm39) |
L611P |
probably benign |
Het |
| Col9a1 |
C |
A |
1: 24,217,380 (GRCm39) |
P19T |
unknown |
Het |
| Csf1r |
A |
T |
18: 61,250,750 (GRCm39) |
N487I |
probably damaging |
Het |
| Csl |
A |
T |
10: 99,594,161 (GRCm39) |
H301Q |
probably damaging |
Het |
| Cyp24a1 |
G |
A |
2: 170,332,036 (GRCm39) |
T330M |
probably damaging |
Het |
| Ddb2 |
T |
C |
2: 91,042,645 (GRCm39) |
D405G |
probably damaging |
Het |
| Degs1 |
A |
G |
1: 182,110,241 (GRCm39) |
F10L |
probably benign |
Het |
| Dhrs2 |
T |
A |
14: 55,477,928 (GRCm39) |
I220N |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,198,328 (GRCm39) |
D1535G |
possibly damaging |
Het |
| Dpy19l1 |
A |
G |
9: 24,414,372 (GRCm39) |
S19P |
probably benign |
Het |
| Eif3l |
A |
C |
15: 78,963,220 (GRCm39) |
E134A |
possibly damaging |
Het |
| Epb41 |
C |
A |
4: 131,664,772 (GRCm39) |
V90L |
|
Het |
| Flad1 |
A |
T |
3: 89,316,109 (GRCm39) |
V151D |
probably damaging |
Het |
| Gja10 |
A |
T |
4: 32,601,568 (GRCm39) |
I272N |
probably benign |
Het |
| Glmp |
T |
A |
3: 88,233,580 (GRCm39) |
D178E |
probably benign |
Het |
| Gm16494 |
G |
A |
17: 47,327,750 (GRCm39) |
P45S |
probably damaging |
Het |
| Gm4553 |
T |
C |
7: 141,719,458 (GRCm39) |
D6G |
unknown |
Het |
| Grid2 |
G |
A |
6: 63,233,929 (GRCm39) |
|
probably null |
Het |
| Icmt |
A |
G |
4: 152,387,482 (GRCm39) |
M226V |
probably benign |
Het |
| Igkv5-39 |
T |
C |
6: 69,877,607 (GRCm39) |
S50G |
probably benign |
Het |
| Ints5 |
T |
C |
19: 8,872,484 (GRCm39) |
S148P |
probably damaging |
Het |
| Itga2b |
A |
C |
11: 102,351,985 (GRCm39) |
V504G |
possibly damaging |
Het |
| Krt20 |
T |
A |
11: 99,323,063 (GRCm39) |
Y253F |
probably damaging |
Het |
| Man2a2 |
T |
A |
7: 80,018,656 (GRCm39) |
I68L |
probably damaging |
Het |
| Mpi |
G |
A |
9: 57,455,954 (GRCm39) |
T176I |
probably benign |
Het |
| Msh6 |
C |
T |
17: 88,294,340 (GRCm39) |
R1032C |
probably damaging |
Het |
| Myot |
C |
T |
18: 44,475,416 (GRCm39) |
T179I |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,116,601 (GRCm39) |
S946P |
|
Het |
| Notch3 |
G |
A |
17: 32,341,713 (GRCm39) |
A2013V |
probably damaging |
Het |
| Nr1d1 |
T |
C |
11: 98,662,133 (GRCm39) |
Y167C |
probably damaging |
Het |
| Or52h7 |
T |
A |
7: 104,213,593 (GRCm39) |
F55Y |
probably benign |
Het |
| Or52n2c |
T |
C |
7: 104,574,828 (GRCm39) |
I48V |
probably benign |
Het |
| Or7g32 |
A |
G |
9: 19,408,377 (GRCm39) |
E111G |
probably damaging |
Het |
| Or8k40 |
A |
C |
2: 86,584,893 (GRCm39) |
L63R |
probably damaging |
Het |
| P4ha3 |
G |
A |
7: 99,966,309 (GRCm39) |
V485M |
probably damaging |
Het |
| Pbk |
T |
A |
14: 66,054,185 (GRCm39) |
C243* |
probably null |
Het |
| Pde4b |
T |
A |
4: 102,459,983 (GRCm39) |
L388H |
possibly damaging |
Het |
| Pecam1 |
T |
C |
11: 106,579,745 (GRCm39) |
D439G |
probably benign |
Het |
| Pknox2 |
A |
T |
9: 36,822,459 (GRCm39) |
M230K |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,908,113 (GRCm39) |
I1185V |
probably damaging |
Het |
| Polr3g |
A |
G |
13: 81,842,682 (GRCm39) |
V111A |
unknown |
Het |
| Prkcg |
G |
C |
7: 3,377,580 (GRCm39) |
E562D |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rnf123 |
A |
T |
9: 107,940,089 (GRCm39) |
V768D |
probably damaging |
Het |
| Rps16 |
T |
A |
7: 28,052,008 (GRCm39) |
S129T |
probably benign |
Het |
| Scg2 |
A |
T |
1: 79,413,222 (GRCm39) |
N460K |
probably benign |
Het |
| Sct |
T |
C |
7: 140,858,807 (GRCm39) |
S42G |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,727,629 (GRCm39) |
N151K |
probably benign |
Het |
| Syce1l |
C |
A |
8: 114,380,721 (GRCm39) |
D144E |
possibly damaging |
Het |
| Syt17 |
T |
C |
7: 118,036,069 (GRCm39) |
Y99C |
probably damaging |
Het |
| Tgfbr3 |
T |
C |
5: 107,287,640 (GRCm39) |
N520D |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 129,523,193 (GRCm39) |
S76G |
probably benign |
Het |
| Tmem63a |
G |
T |
1: 180,788,685 (GRCm39) |
V341F |
probably benign |
Het |
| Trim5 |
A |
G |
7: 103,914,993 (GRCm39) |
S359P |
probably damaging |
Het |
| Tst |
A |
T |
15: 78,284,020 (GRCm39) |
V269E |
probably damaging |
Het |
| Ubr3 |
A |
T |
2: 69,784,706 (GRCm39) |
I808F |
probably null |
Het |
| Ugt3a1 |
T |
A |
15: 9,362,024 (GRCm39) |
Y267N |
probably benign |
Het |
| Wwc1 |
A |
T |
11: 35,761,384 (GRCm39) |
|
probably benign |
Het |
| Zfp36l2 |
G |
T |
17: 84,494,552 (GRCm39) |
N28K |
probably damaging |
Het |
| Zfp57 |
A |
G |
17: 37,321,136 (GRCm39) |
D330G |
probably benign |
Het |
| Zgrf1 |
C |
A |
3: 127,377,644 (GRCm39) |
S963Y |
probably damaging |
Het |
| Zranb2 |
A |
G |
3: 157,247,412 (GRCm39) |
K197E |
unknown |
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 |
|
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 |
|
R8911:2210408I21Rik
|
UTSW |
13 |
77,429,234 (GRCm39) |
missense |
probably benign |
0.28 |
|
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'- TCTAGTATGGCAGACTCTCCC -3'
(R):5'- AACACACAAGTTTTGTCTCGAG -3'
Sequencing Primer
(F):5'- CAGCCTGAACTAATTAGGTTCATAGG -3'
(R):5'- GTTTTGTCTCGAGCATCAAAACCAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation