Incidental Mutation 'R7881:2210408I21Rik'
| ID |
608778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2210408I21Rik
|
| Ensembl Gene |
ENSMUSG00000071252 |
| Gene Name |
RIKEN cDNA 2210408I21 gene |
| Synonyms |
|
| MMRRC Submission |
045933-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7881 (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 77471685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1030
(N1030S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168779]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168779
AA Change: N1030S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127449
Gene: ENSMUSG00000071252
AA Change: N1030S
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (63/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930507D05Rik |
A |
G |
10: 62,285,303 (GRCm39) |
H9R |
unknown |
Het |
| Anks1b |
T |
A |
10: 90,802,880 (GRCm39) |
S398T |
probably benign |
Het |
| Bbox1 |
T |
A |
2: 110,122,871 (GRCm39) |
K139N |
probably benign |
Het |
| Birc6 |
C |
A |
17: 74,948,666 (GRCm39) |
H3047N |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Camta1 |
G |
A |
4: 151,920,333 (GRCm39) |
S18F |
probably damaging |
Het |
| Ccnb1ip1 |
T |
C |
14: 51,031,277 (GRCm39) |
Y12C |
possibly damaging |
Het |
| Celsr3 |
G |
A |
9: 108,705,271 (GRCm39) |
A585T |
probably benign |
Het |
| Col6a4 |
T |
C |
9: 105,957,497 (GRCm39) |
N109S |
probably benign |
Het |
| Crisp4 |
A |
T |
1: 18,198,893 (GRCm39) |
D180E |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 49,997,450 (GRCm39) |
M546K |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 117,951,237 (GRCm39) |
V3024I |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,322,064 (GRCm39) |
D3752G |
probably damaging |
Het |
| Dram1 |
G |
T |
10: 88,160,609 (GRCm39) |
D237E |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,769,426 (GRCm39) |
N626D |
probably benign |
Het |
| Elavl1 |
T |
G |
8: 4,361,763 (GRCm39) |
N3T |
probably damaging |
Het |
| Fam184a |
A |
G |
10: 53,574,589 (GRCm39) |
V340A |
probably benign |
Het |
| Fer1l5 |
C |
T |
1: 36,446,117 (GRCm39) |
T876M |
not run |
Het |
| Foxp2 |
T |
A |
6: 15,409,888 (GRCm39) |
V471E |
unknown |
Het |
| Fstl5 |
G |
A |
3: 76,443,605 (GRCm39) |
G317R |
probably damaging |
Het |
| Gm32742 |
T |
C |
9: 51,060,414 (GRCm39) |
E963G |
possibly damaging |
Het |
| Gpbp1 |
A |
T |
13: 111,575,733 (GRCm39) |
S257T |
possibly damaging |
Het |
| Gsdmc4 |
C |
T |
15: 63,769,568 (GRCm39) |
C218Y |
possibly damaging |
Het |
| Hmg20b |
T |
C |
10: 81,182,442 (GRCm39) |
H298R |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,967,591 (GRCm39) |
C72S |
probably benign |
Het |
| Kcnip1 |
A |
G |
11: 33,583,206 (GRCm39) |
M193T |
probably damaging |
Het |
| Khdc1c |
G |
T |
1: 21,439,899 (GRCm39) |
C150F |
probably benign |
Het |
| Kmt2b |
A |
G |
7: 30,279,208 (GRCm39) |
S1485P |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,787,001 (GRCm39) |
S533P |
probably benign |
Het |
| Megf8 |
T |
A |
7: 25,040,060 (GRCm39) |
V997E |
possibly damaging |
Het |
| Mob2 |
T |
C |
7: 141,563,177 (GRCm39) |
Y94C |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Npepl1 |
A |
G |
2: 173,962,387 (GRCm39) |
D351G |
probably damaging |
Het |
| Nrg1 |
G |
A |
8: 32,328,352 (GRCm39) |
Q213* |
probably null |
Het |
| Nrp2 |
A |
G |
1: 62,810,990 (GRCm39) |
D677G |
probably benign |
Het |
| Or11h7 |
A |
G |
14: 50,890,904 (GRCm39) |
E70G |
probably damaging |
Het |
| Or2b4 |
G |
T |
17: 38,116,320 (GRCm39) |
G95C |
probably damaging |
Het |
| Or56a3 |
G |
T |
7: 104,735,780 (GRCm39) |
V286F |
probably damaging |
Het |
| Or5aq7 |
G |
T |
2: 86,938,401 (GRCm39) |
T110K |
probably damaging |
Het |
| Or5m3b |
C |
A |
2: 85,871,814 (GRCm39) |
Q52K |
probably benign |
Het |
| Or8c8 |
T |
A |
9: 38,165,406 (GRCm39) |
M228K |
probably benign |
Het |
| Peg10 |
ACATCAGGATCC |
ACATCAGGATCCCCATCAGGATCC |
6: 4,756,454 (GRCm39) |
|
probably benign |
Het |
| Phaf1 |
C |
A |
8: 105,976,084 (GRCm39) |
T347N |
probably benign |
Het |
| Prune2 |
G |
A |
19: 17,100,393 (GRCm39) |
V1966I |
possibly damaging |
Het |
| Ptch2 |
A |
G |
4: 116,967,585 (GRCm39) |
H751R |
probably benign |
Het |
| Ptges2 |
T |
A |
2: 32,292,243 (GRCm39) |
M353K |
probably damaging |
Het |
| Pum3 |
G |
A |
19: 27,373,728 (GRCm39) |
Q564* |
probably null |
Het |
| Qtrt1 |
A |
G |
9: 21,330,637 (GRCm39) |
D279G |
probably damaging |
Het |
| Rftn1 |
C |
T |
17: 50,354,463 (GRCm39) |
V300I |
probably benign |
Het |
| Robo2 |
T |
C |
16: 73,717,585 (GRCm39) |
T1172A |
probably benign |
Het |
| Sdc3 |
A |
G |
4: 130,544,244 (GRCm39) |
D74G |
unknown |
Het |
| Setd1b |
A |
G |
5: 123,290,336 (GRCm39) |
M768V |
unknown |
Het |
| Shld2 |
A |
T |
14: 33,989,724 (GRCm39) |
M394K |
possibly damaging |
Het |
| Siglech |
A |
T |
7: 55,422,289 (GRCm39) |
H298L |
probably benign |
Het |
| Sipa1 |
A |
T |
19: 5,701,704 (GRCm39) |
L977Q |
probably damaging |
Het |
| Slc9c1 |
G |
A |
16: 45,403,332 (GRCm39) |
V800I |
probably benign |
Het |
| Spata31e1 |
A |
G |
13: 49,943,547 (GRCm39) |
S44P |
possibly damaging |
Het |
| Spata31f1a |
C |
T |
4: 42,851,586 (GRCm39) |
C190Y |
probably benign |
Het |
| Tbc1d8 |
C |
T |
1: 39,425,104 (GRCm39) |
R582Q |
probably damaging |
Het |
| Tmem247 |
T |
A |
17: 87,229,728 (GRCm39) |
F190I |
probably damaging |
Het |
| Trim42 |
C |
A |
9: 97,245,070 (GRCm39) |
A577S |
possibly damaging |
Het |
| Ubiad1 |
G |
A |
4: 148,528,726 (GRCm39) |
T61I |
probably benign |
Het |
| Usp40 |
G |
A |
1: 87,923,435 (GRCm39) |
Q279* |
probably null |
Het |
| Usp48 |
A |
G |
4: 137,360,766 (GRCm39) |
N733S |
probably benign |
Het |
| Vmn2r83 |
A |
T |
10: 79,314,261 (GRCm39) |
I170F |
probably benign |
Het |
| Xkr4 |
G |
A |
1: 3,286,487 (GRCm39) |
P568S |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,664,679 (GRCm39) |
W513R |
probably damaging |
Het |
| Zfp40 |
T |
C |
17: 23,410,440 (GRCm39) |
|
probably benign |
Het |
| Zfp652 |
T |
A |
11: 95,640,935 (GRCm39) |
S287T |
possibly damaging |
Het |
| Znrf3 |
G |
A |
11: 5,394,533 (GRCm39) |
A49V |
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 |
|
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 |
|
|
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'- GCAGTGTCTATTGTCCTCAGC -3'
(R):5'- GAGAGACAGGCATGGCTTTACC -3'
Sequencing Primer
(F):5'- CCTCAGCAAGTTACCTACAGTGATTG -3'
(R):5'- ACCATTGGATGCTCAGTGTC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation