Incidental Mutation 'R1718:2210408I21Rik'
| ID |
191227 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2210408I21Rik
|
| Ensembl Gene |
ENSMUSG00000071252 |
| Gene Name |
RIKEN cDNA 2210408I21 gene |
| Synonyms |
|
| MMRRC Submission |
039751-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1718 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
77283659-77761903 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to T
at 77393489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168779]
[ENSMUST00000225760]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168779
|
| SMART Domains |
Protein: ENSMUSP00000127449
Gene: ENSMUSG00000071252
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225760
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
100% (69/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot3 |
T |
G |
12: 84,100,717 (GRCm39) |
|
probably null |
Het |
| Acox1 |
A |
T |
11: 116,065,508 (GRCm39) |
C523* |
probably null |
Het |
| Adamts19 |
G |
A |
18: 59,105,897 (GRCm39) |
C764Y |
probably damaging |
Het |
| Agrn |
GCTCT |
GCTCTCT |
4: 156,250,976 (GRCm39) |
|
probably null |
Het |
| Apob |
A |
G |
12: 8,066,087 (GRCm39) |
K4319R |
probably benign |
Het |
| AU016765 |
A |
C |
17: 64,862,433 (GRCm39) |
|
noncoding transcript |
Het |
| Bpifb1 |
T |
A |
2: 154,055,903 (GRCm39) |
|
probably null |
Het |
| Btn2a2 |
A |
G |
13: 23,666,106 (GRCm39) |
V242A |
probably benign |
Het |
| Camta1 |
A |
G |
4: 151,168,481 (GRCm39) |
S1281P |
probably benign |
Het |
| Ccdc116 |
T |
C |
16: 16,959,772 (GRCm39) |
K306E |
probably benign |
Het |
| Cemip |
A |
G |
7: 83,584,866 (GRCm39) |
V1350A |
probably benign |
Het |
| Clip2 |
A |
T |
5: 134,531,783 (GRCm39) |
L674* |
probably null |
Het |
| Cyp2d12 |
T |
A |
15: 82,442,251 (GRCm39) |
D244E |
probably benign |
Het |
| Cyp4x1 |
A |
G |
4: 114,968,867 (GRCm39) |
V379A |
possibly damaging |
Het |
| Dnah9 |
T |
A |
11: 66,058,905 (GRCm39) |
H130L |
possibly damaging |
Het |
| Enpp7 |
A |
G |
11: 118,881,809 (GRCm39) |
Y318C |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,702,748 (GRCm39) |
|
probably null |
Het |
| Glra3 |
G |
T |
8: 56,393,942 (GRCm39) |
A18S |
probably benign |
Het |
| Gm28042 |
T |
A |
2: 119,866,872 (GRCm39) |
S172T |
possibly damaging |
Het |
| Gm7808 |
T |
A |
9: 19,839,299 (GRCm39) |
|
probably benign |
Het |
| Gpr61 |
C |
T |
3: 108,057,696 (GRCm39) |
V322M |
possibly damaging |
Het |
| H2-T5 |
A |
G |
17: 36,472,676 (GRCm39) |
|
probably benign |
Het |
| Hapln3 |
A |
G |
7: 78,773,198 (GRCm39) |
V15A |
unknown |
Het |
| Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
| Klk1b4 |
A |
G |
7: 43,859,096 (GRCm39) |
Y38C |
probably damaging |
Het |
| Lrrfip1 |
A |
G |
1: 91,043,277 (GRCm39) |
K561E |
probably damaging |
Het |
| Map3k1 |
A |
G |
13: 111,891,953 (GRCm39) |
C1101R |
probably benign |
Het |
| Mcoln2 |
A |
G |
3: 145,896,229 (GRCm39) |
|
probably benign |
Het |
| Mfsd2b |
G |
A |
12: 4,919,037 (GRCm39) |
T73I |
probably damaging |
Het |
| Mfsd4b5 |
C |
T |
10: 39,851,199 (GRCm39) |
V19I |
probably benign |
Het |
| Mgme1 |
T |
A |
2: 144,114,238 (GRCm39) |
D113E |
probably benign |
Het |
| Mki67 |
A |
G |
7: 135,297,223 (GRCm39) |
S2604P |
probably damaging |
Het |
| Mob3c |
A |
G |
4: 115,688,841 (GRCm39) |
I125V |
probably benign |
Het |
| Mrps9 |
G |
A |
1: 42,942,559 (GRCm39) |
R339H |
probably damaging |
Het |
| Ndst1 |
T |
C |
18: 60,840,875 (GRCm39) |
D269G |
probably damaging |
Het |
| Nedd9 |
T |
C |
13: 41,492,402 (GRCm39) |
N30S |
probably damaging |
Het |
| Notch4 |
G |
A |
17: 34,795,737 (GRCm39) |
|
probably benign |
Het |
| Or5ak25 |
T |
C |
2: 85,269,149 (GRCm39) |
M118V |
probably benign |
Het |
| Or5t15 |
A |
T |
2: 86,681,531 (GRCm39) |
N170K |
probably benign |
Het |
| Or8b9 |
G |
A |
9: 37,766,749 (GRCm39) |
V212I |
probably benign |
Het |
| Or8c10 |
A |
G |
9: 38,278,890 (GRCm39) |
D6G |
probably benign |
Het |
| Papss1 |
C |
A |
3: 131,324,946 (GRCm39) |
R447S |
probably damaging |
Het |
| Pla2g4a |
C |
T |
1: 149,747,274 (GRCm39) |
|
probably benign |
Het |
| Rab11fip2 |
A |
G |
19: 59,924,081 (GRCm39) |
F266L |
probably damaging |
Het |
| Ralgapb |
T |
A |
2: 158,285,200 (GRCm39) |
Y554* |
probably null |
Het |
| Rem2 |
T |
C |
14: 54,716,607 (GRCm39) |
V240A |
probably damaging |
Het |
| Retsat |
T |
C |
6: 72,579,654 (GRCm39) |
V143A |
probably benign |
Het |
| Rnf141 |
G |
T |
7: 110,420,480 (GRCm39) |
Q175K |
probably damaging |
Het |
| Rtcb |
C |
A |
10: 85,777,881 (GRCm39) |
G431V |
probably damaging |
Het |
| Slc7a6os |
A |
G |
8: 106,930,971 (GRCm39) |
W222R |
probably damaging |
Het |
| Smarcc2 |
T |
C |
10: 128,304,867 (GRCm39) |
|
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,755,828 (GRCm39) |
Y218N |
possibly damaging |
Het |
| Sp110 |
G |
A |
1: 85,522,106 (GRCm39) |
H66Y |
probably benign |
Het |
| Speg |
G |
A |
1: 75,394,507 (GRCm39) |
E1739K |
probably benign |
Het |
| Speg |
A |
G |
1: 75,398,388 (GRCm39) |
Q1945R |
possibly damaging |
Het |
| Sprtn |
T |
C |
8: 125,625,096 (GRCm39) |
V67A |
probably damaging |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Tnks1bp1 |
G |
T |
2: 84,902,082 (GRCm39) |
E997D |
probably benign |
Het |
| Tti1 |
A |
T |
2: 157,850,144 (GRCm39) |
V365E |
probably benign |
Het |
| Tulp4 |
A |
G |
17: 6,272,715 (GRCm39) |
I590V |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,950,121 (GRCm39) |
D847G |
probably benign |
Het |
| Zfp184 |
A |
G |
13: 22,143,442 (GRCm39) |
T383A |
possibly damaging |
Het |
| Zik1 |
T |
A |
7: 10,226,268 (GRCm39) |
E33V |
probably damaging |
Het |
| Zik1 |
C |
A |
7: 10,226,269 (GRCm39) |
E33* |
probably null |
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 |
|
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 |
|
|
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'- TGCTCACAGAAGGAAAGACGCC -3'
(R):5'- TGGGGTTACACCACACATTTTGCC -3'
Sequencing Primer
(F):5'- GGAAAGACGCCCTTCTCTATC -3'
(R):5'- TGCCTTTCACAGGTCAGG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation