Incidental Mutation 'R8989:2210408I21Rik'
| ID |
684309 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2210408I21Rik
|
| Ensembl Gene |
ENSMUSG00000071252 |
| Gene Name |
RIKEN cDNA 2210408I21 gene |
| Synonyms |
|
| MMRRC Submission |
068821-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8989 (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 G
at 77760724 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 1260
(I1260M)
|
| 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: I1260M
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000127449
Gene: ENSMUSG00000071252
AA Change: I1260M
| 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: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
A |
19: 31,904,556 (GRCm39) |
F273Y |
possibly damaging |
Het |
| A3galt2 |
T |
C |
4: 128,655,231 (GRCm39) |
W45R |
probably damaging |
Het |
| Adam23 |
A |
G |
1: 63,588,948 (GRCm39) |
E460G |
probably damaging |
Het |
| Ago1 |
T |
A |
4: 126,357,583 (GRCm39) |
T31S |
probably benign |
Het |
| Ago3 |
T |
A |
4: 126,298,191 (GRCm39) |
T110S |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 52,927,654 (GRCm39) |
F188S |
probably damaging |
Het |
| Asic2 |
G |
A |
11: 81,043,180 (GRCm39) |
P38S |
probably benign |
Het |
| Astn2 |
A |
T |
4: 65,499,890 (GRCm39) |
C1000S |
possibly damaging |
Het |
| Atp10b |
T |
A |
11: 43,136,269 (GRCm39) |
C1132* |
probably null |
Het |
| Atp7b |
A |
T |
8: 22,510,911 (GRCm39) |
S527T |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,979,025 (GRCm39) |
T763I |
probably benign |
Het |
| Capn11 |
A |
G |
17: 45,954,783 (GRCm39) |
L118P |
probably damaging |
Het |
| Col13a1 |
T |
C |
10: 61,696,250 (GRCm39) |
E589G |
unknown |
Het |
| Col6a2 |
T |
C |
10: 76,440,015 (GRCm39) |
D630G |
probably damaging |
Het |
| Ctnnd2 |
G |
A |
15: 30,669,660 (GRCm39) |
R423H |
probably damaging |
Het |
| Dld |
G |
A |
12: 31,383,458 (GRCm39) |
T447I |
probably damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,912,059 (GRCm39) |
L1227S |
probably damaging |
Het |
| Elac1 |
C |
A |
18: 73,880,310 (GRCm39) |
E29* |
probably null |
Het |
| Entrep1 |
T |
A |
19: 23,962,196 (GRCm39) |
Q269L |
probably damaging |
Het |
| Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
| Fancc |
G |
T |
13: 63,548,090 (GRCm39) |
L70M |
possibly damaging |
Het |
| Fgd6 |
T |
A |
10: 93,959,425 (GRCm39) |
M1041K |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,663,446 (GRCm39) |
V1014A |
possibly damaging |
Het |
| Galnt1 |
C |
T |
18: 24,402,567 (GRCm39) |
T308I |
possibly damaging |
Het |
| Garre1 |
T |
C |
7: 33,956,869 (GRCm39) |
Q332R |
probably damaging |
Het |
| Gpr63 |
T |
A |
4: 25,007,357 (GRCm39) |
V27D |
possibly damaging |
Het |
| Hcfc2 |
T |
C |
10: 82,536,822 (GRCm39) |
V78A |
probably damaging |
Het |
| Hexd |
T |
A |
11: 121,109,136 (GRCm39) |
|
probably benign |
Het |
| Hipk1 |
T |
C |
3: 103,668,960 (GRCm39) |
T479A |
possibly damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,229,544 (GRCm39) |
D711G |
probably damaging |
Het |
| Ifna16 |
A |
T |
4: 88,594,912 (GRCm39) |
F61Y |
probably damaging |
Het |
| Insrr |
T |
A |
3: 87,722,664 (GRCm39) |
N1295K |
probably damaging |
Het |
| Kif5b |
T |
A |
18: 6,209,021 (GRCm39) |
R914W |
probably damaging |
Het |
| Lpo |
T |
C |
11: 87,708,660 (GRCm39) |
T113A |
probably benign |
Het |
| Mmp21 |
T |
C |
7: 133,276,746 (GRCm39) |
D419G |
probably damaging |
Het |
| Naf1 |
A |
G |
8: 67,313,628 (GRCm39) |
T204A |
possibly damaging |
Het |
| Nsmce4a |
T |
C |
7: 130,141,587 (GRCm39) |
T201A |
probably benign |
Het |
| Nup160 |
T |
A |
2: 90,548,208 (GRCm39) |
N980K |
probably damaging |
Het |
| Odad2 |
T |
C |
18: 7,268,464 (GRCm39) |
K352E |
probably benign |
Het |
| Or13c7d |
T |
C |
4: 43,770,346 (GRCm39) |
I222V |
possibly damaging |
Het |
| Or14j2 |
A |
T |
17: 37,885,542 (GRCm39) |
F257L |
probably benign |
Het |
| Or2d3c |
T |
A |
7: 106,526,366 (GRCm39) |
Q100L |
probably damaging |
Het |
| Pcdhb19 |
A |
G |
18: 37,631,476 (GRCm39) |
T424A |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,719,325 (GRCm39) |
A1154V |
unknown |
Het |
| Pramel28 |
C |
A |
4: 143,691,770 (GRCm39) |
A318S |
probably benign |
Het |
| Psma8 |
T |
A |
18: 14,890,404 (GRCm39) |
D181E |
probably benign |
Het |
| Rhpn2 |
C |
A |
7: 35,053,446 (GRCm39) |
|
probably benign |
Het |
| Serpinb6e |
G |
T |
13: 34,022,967 (GRCm39) |
H139N |
possibly damaging |
Het |
| Slc26a7 |
T |
A |
4: 14,533,642 (GRCm39) |
I394F |
probably damaging |
Het |
| Spmip5 |
T |
C |
19: 58,776,153 (GRCm39) |
E100G |
probably damaging |
Het |
| Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
| Taok3 |
T |
C |
5: 117,379,227 (GRCm39) |
S421P |
probably benign |
Het |
| Tas2r143 |
T |
G |
6: 42,377,828 (GRCm39) |
D219E |
probably damaging |
Het |
| Tcaf1 |
G |
A |
6: 42,663,707 (GRCm39) |
R58C |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,688,383 (GRCm39) |
Y2401* |
probably null |
Het |
| Tut1 |
T |
C |
19: 8,937,116 (GRCm39) |
V200A |
possibly damaging |
Het |
| Unc5c |
T |
A |
3: 141,509,467 (GRCm39) |
|
probably benign |
Het |
| Vmn2r28 |
T |
G |
7: 5,493,473 (GRCm39) |
I158L |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,404,134 (GRCm39) |
H19L |
probably benign |
Het |
| Xpo4 |
A |
G |
14: 57,828,475 (GRCm39) |
M795T |
probably benign |
Het |
| Zc3h12a |
C |
A |
4: 125,014,743 (GRCm39) |
R247L |
probably damaging |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
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 |
|
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 |
|
|
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'- TGAACCCTCAATAAACCAGTGACTG -3'
(R):5'- CACGAGATGGCAGCAATTTTATC -3'
Sequencing Primer
(F):5'- CCTCAATAAACCAGTGACTGTATATC -3'
(R):5'- TGTTTAAAATAAGAAACGTGGAGCC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation