Incidental Mutation 'R7130:2210408I21Rik'
| ID |
552604 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2210408I21Rik
|
| Ensembl Gene |
ENSMUSG00000071252 |
| Gene Name |
RIKEN cDNA 2210408I21 gene |
| Synonyms |
|
| MMRRC Submission |
045215-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7130 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
77283659-77761903 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 77418021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 735
(T735I)
|
| 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: T735I
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127449
Gene: ENSMUSG00000071252
AA Change: T735I
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
A |
C |
10: 85,223,419 (GRCm39) |
D76A |
unknown |
Het |
| Adcy10 |
T |
A |
1: 165,331,616 (GRCm39) |
V83E |
probably damaging |
Het |
| Adcy6 |
A |
G |
15: 98,495,110 (GRCm39) |
Y701H |
probably benign |
Het |
| Apbb1 |
G |
A |
7: 105,214,538 (GRCm39) |
H518Y |
probably damaging |
Het |
| Arhgap20 |
T |
A |
9: 51,761,047 (GRCm39) |
V966E |
probably damaging |
Het |
| Bbx |
T |
A |
16: 50,030,805 (GRCm39) |
|
probably null |
Het |
| Bpifb9b |
T |
A |
2: 154,153,592 (GRCm39) |
N219K |
probably damaging |
Het |
| Cdk19 |
A |
G |
10: 40,355,761 (GRCm39) |
T490A |
unknown |
Het |
| Cyb5r1 |
T |
G |
1: 134,335,759 (GRCm39) |
|
probably benign |
Het |
| Dnah14 |
C |
T |
1: 181,573,523 (GRCm39) |
Q2945* |
probably null |
Het |
| Eif5b |
A |
G |
1: 38,080,857 (GRCm39) |
T733A |
probably damaging |
Het |
| Esyt3 |
T |
A |
9: 99,200,223 (GRCm39) |
D657V |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,034,936 (GRCm39) |
F2863I |
probably damaging |
Het |
| Fbxw14 |
T |
A |
9: 109,100,350 (GRCm39) |
I435L |
probably benign |
Het |
| Fus |
G |
A |
7: 127,573,585 (GRCm39) |
G253S |
unknown |
Het |
| Gdi2 |
T |
C |
13: 3,598,891 (GRCm39) |
V25A |
probably benign |
Het |
| Gm28729 |
T |
G |
9: 96,401,457 (GRCm39) |
R110S |
probably benign |
Het |
| Gucd1 |
A |
G |
10: 75,347,951 (GRCm39) |
L28P |
possibly damaging |
Het |
| Hmgxb3 |
C |
T |
18: 61,265,450 (GRCm39) |
S1176N |
probably benign |
Het |
| Islr2 |
T |
C |
9: 58,105,575 (GRCm39) |
T606A |
probably damaging |
Het |
| Kcnf1 |
T |
C |
12: 17,225,810 (GRCm39) |
D137G |
probably benign |
Het |
| Klkb1 |
T |
A |
8: 45,728,575 (GRCm39) |
T395S |
probably benign |
Het |
| Morc2b |
T |
A |
17: 33,355,262 (GRCm39) |
S837C |
possibly damaging |
Het |
| Mrpl9 |
A |
G |
3: 94,354,597 (GRCm39) |
R204G |
probably benign |
Het |
| Naaladl1 |
A |
G |
19: 6,156,018 (GRCm39) |
E64G |
probably benign |
Het |
| Nlrx1 |
T |
C |
9: 44,173,638 (GRCm39) |
E521G |
possibly damaging |
Het |
| Npc2 |
A |
G |
12: 84,812,081 (GRCm39) |
S54P |
probably damaging |
Het |
| Nxpe2 |
T |
C |
9: 48,250,837 (GRCm39) |
M37V |
probably benign |
Het |
| Or2ag17 |
A |
G |
7: 106,389,389 (GRCm39) |
L273P |
probably benign |
Het |
| Or2w1 |
T |
G |
13: 21,317,416 (GRCm39) |
V157G |
probably benign |
Het |
| Or4b1b |
T |
C |
2: 90,112,266 (GRCm39) |
I218V |
probably benign |
Het |
| Or9s27 |
C |
T |
1: 92,516,634 (GRCm39) |
A194V |
probably benign |
Het |
| Osbpl9 |
G |
A |
4: 108,940,296 (GRCm39) |
R213C |
probably benign |
Het |
| Pard3 |
C |
A |
8: 128,142,164 (GRCm39) |
R907S |
probably damaging |
Het |
| Pcdhb11 |
A |
G |
18: 37,556,559 (GRCm39) |
S630G |
probably benign |
Het |
| Pcdhb17 |
G |
A |
18: 37,618,498 (GRCm39) |
C96Y |
probably damaging |
Het |
| Pclo |
C |
T |
5: 14,729,356 (GRCm39) |
T2738I |
unknown |
Het |
| Pcnx2 |
G |
A |
8: 126,480,323 (GRCm39) |
R1995* |
probably null |
Het |
| Ppm1a |
T |
A |
12: 72,831,007 (GRCm39) |
N177K |
probably benign |
Het |
| Rfx6 |
A |
T |
10: 51,554,476 (GRCm39) |
K106* |
probably null |
Het |
| Rhoh |
T |
C |
5: 66,050,207 (GRCm39) |
V159A |
probably damaging |
Het |
| Rreb1 |
T |
C |
13: 38,083,724 (GRCm39) |
V129A |
probably damaging |
Het |
| Sdccag8 |
C |
A |
1: 176,702,167 (GRCm39) |
A424D |
probably damaging |
Het |
| Sdf2 |
T |
C |
11: 78,136,823 (GRCm39) |
M1T |
probably null |
Het |
| Sftpb |
T |
A |
6: 72,282,808 (GRCm39) |
F94I |
possibly damaging |
Het |
| Slc38a2 |
G |
T |
15: 96,589,263 (GRCm39) |
H410Q |
probably damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,960,384 (GRCm39) |
V68E |
probably damaging |
Het |
| Spopfm3 |
T |
C |
3: 94,105,834 (GRCm39) |
W51R |
probably damaging |
Het |
| Srd5a3 |
T |
C |
5: 76,297,684 (GRCm39) |
V162A |
possibly damaging |
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Tango6 |
A |
G |
8: 107,533,733 (GRCm39) |
D953G |
probably damaging |
Het |
| Tdrd7 |
T |
C |
4: 46,029,693 (GRCm39) |
S1009P |
probably damaging |
Het |
| Thap3 |
T |
C |
4: 152,073,373 (GRCm39) |
Y14C |
possibly damaging |
Het |
| Tmem143 |
T |
A |
7: 45,558,901 (GRCm39) |
M281K |
possibly damaging |
Het |
| Trio |
TACCTTGTTACTGAGCCCTTCTCACCTTCACAGACACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC |
TACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC |
15: 27,742,399 (GRCm39) |
|
probably benign |
Het |
| Tsga10 |
A |
G |
1: 37,822,965 (GRCm39) |
I516T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,721,013 (GRCm39) |
I6804V |
unknown |
Het |
| Ubtfl1 |
C |
A |
9: 18,321,143 (GRCm39) |
P224T |
probably damaging |
Het |
| Umad1 |
G |
T |
6: 8,427,185 (GRCm39) |
C120F |
probably null |
Het |
| Unc93a2 |
T |
C |
17: 7,637,824 (GRCm39) |
T304A |
probably benign |
Het |
| Vinac1 |
A |
T |
2: 128,881,101 (GRCm39) |
V275D |
|
Het |
| Vmn2r79 |
T |
C |
7: 86,651,474 (GRCm39) |
V291A |
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 |
|
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'- TGGCCATCCATAGGCATTCAG -3'
(R):5'- ACTGAATGGGACCTACAGACAC -3'
Sequencing Primer
(F):5'- CCATCCATAGGCATTCAGTGGTG -3'
(R):5'- GCACATCAGAGTGACTAAATAGC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation