Incidental Mutation 'R9163:2210408I21Rik'
| ID |
695870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2210408I21Rik
|
| Ensembl Gene |
ENSMUSG00000071252 |
| Gene Name |
RIKEN cDNA 2210408I21 gene |
| Synonyms |
|
| MMRRC Submission |
068975-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9163 (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 C
at 77393400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 351
(S351P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168779]
[ENSMUST00000225760]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168779
AA Change: S351P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127449
Gene: ENSMUSG00000071252
AA Change: S351P
| 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
|
| Meta Mutation Damage Score |
0.0672 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930558K02Rik |
A |
G |
1: 161,777,174 (GRCm39) |
S128P |
probably benign |
Het |
| Adam17 |
C |
T |
12: 21,401,588 (GRCm39) |
V136I |
probably benign |
Het |
| Adam19 |
A |
G |
11: 46,018,176 (GRCm39) |
T413A |
probably benign |
Het |
| Adam28 |
T |
C |
14: 68,866,531 (GRCm39) |
K443E |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,567,541 (GRCm39) |
T5211S |
probably benign |
Het |
| Adnp2 |
A |
T |
18: 80,172,200 (GRCm39) |
N736K |
possibly damaging |
Het |
| Agtpbp1 |
C |
T |
13: 59,609,884 (GRCm39) |
W1082* |
probably null |
Het |
| Ap3b2 |
T |
G |
7: 81,113,546 (GRCm39) |
M888L |
unknown |
Het |
| Arhgap35 |
C |
A |
7: 16,295,549 (GRCm39) |
R1172L |
possibly damaging |
Het |
| Arrdc3 |
T |
A |
13: 81,041,506 (GRCm39) |
D402E |
probably benign |
Het |
| Ccdc14 |
T |
C |
16: 34,511,118 (GRCm39) |
F31L |
possibly damaging |
Het |
| Cd5l |
T |
G |
3: 87,274,932 (GRCm39) |
L157R |
probably benign |
Het |
| Cdc14a |
G |
T |
3: 116,122,213 (GRCm39) |
D251E |
possibly damaging |
Het |
| Cfap210 |
A |
T |
2: 69,606,510 (GRCm39) |
I302K |
probably benign |
Het |
| Chmp2a |
T |
A |
7: 12,766,645 (GRCm39) |
Q91L |
possibly damaging |
Het |
| Col12a1 |
A |
G |
9: 79,548,729 (GRCm39) |
|
probably null |
Het |
| Ctdsp1 |
G |
T |
1: 74,434,126 (GRCm39) |
R201L |
possibly damaging |
Het |
| Dhx15 |
C |
T |
5: 52,342,198 (GRCm39) |
R40H |
probably damaging |
Het |
| Dnph1 |
A |
G |
17: 46,809,860 (GRCm39) |
Y134C |
probably damaging |
Het |
| Foxo1 |
T |
A |
3: 52,253,301 (GRCm39) |
V488D |
probably benign |
Het |
| Gcn1 |
C |
A |
5: 115,742,944 (GRCm39) |
N1538K |
probably benign |
Het |
| Gldc |
T |
A |
19: 30,111,686 (GRCm39) |
E500V |
probably benign |
Het |
| Hhip |
G |
A |
8: 80,701,743 (GRCm39) |
T597I |
probably benign |
Het |
| Hmgn1 |
A |
G |
16: 95,928,509 (GRCm39) |
|
probably null |
Het |
| Ifi205 |
A |
T |
1: 173,844,988 (GRCm39) |
S265T |
possibly damaging |
Het |
| Igkv1-131 |
T |
C |
6: 67,743,753 (GRCm39) |
M2V |
probably benign |
Het |
| Irgm2 |
T |
G |
11: 58,111,280 (GRCm39) |
S324A |
probably damaging |
Het |
| Jarid2 |
C |
G |
13: 45,064,727 (GRCm39) |
D937E |
possibly damaging |
Het |
| Jrkl |
A |
T |
9: 13,245,404 (GRCm39) |
W86R |
probably damaging |
Het |
| Kbtbd3 |
A |
G |
9: 4,330,584 (GRCm39) |
I319M |
probably benign |
Het |
| Klhl7 |
T |
C |
5: 24,364,465 (GRCm39) |
Y500H |
probably damaging |
Het |
| Lats1 |
C |
T |
10: 7,578,052 (GRCm39) |
A392V |
probably benign |
Het |
| Llgl1 |
G |
T |
11: 60,600,402 (GRCm39) |
A584S |
probably benign |
Het |
| Macf1 |
G |
T |
4: 123,403,686 (GRCm39) |
S560Y |
probably damaging |
Het |
| Or4c11 |
C |
T |
2: 88,695,795 (GRCm39) |
P282L |
possibly damaging |
Het |
| Or8c10 |
T |
A |
9: 38,279,378 (GRCm39) |
C169S |
probably damaging |
Het |
| Pde10a |
G |
A |
17: 9,181,791 (GRCm39) |
C498Y |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,659,123 (GRCm39) |
|
probably null |
Het |
| Pdhx |
G |
A |
2: 102,852,561 (GRCm39) |
P434L |
probably damaging |
Het |
| Pdlim3 |
T |
C |
8: 46,338,711 (GRCm39) |
|
probably null |
Het |
| Pik3c3 |
T |
C |
18: 30,427,483 (GRCm39) |
|
probably null |
Het |
| Prkag1 |
T |
C |
15: 98,711,900 (GRCm39) |
K242R |
possibly damaging |
Het |
| Rap1b |
A |
G |
10: 117,654,391 (GRCm39) |
S150P |
possibly damaging |
Het |
| Scn4a |
A |
G |
11: 106,217,076 (GRCm39) |
S1102P |
probably damaging |
Het |
| Scrib |
A |
G |
15: 75,921,108 (GRCm39) |
Y1332H |
probably damaging |
Het |
| Sim1 |
A |
G |
10: 50,772,165 (GRCm39) |
E58G |
probably benign |
Het |
| Slc13a1 |
C |
T |
6: 24,097,578 (GRCm39) |
|
probably null |
Het |
| Slc17a8 |
A |
G |
10: 89,425,444 (GRCm39) |
V380A |
probably damaging |
Het |
| Slc5a4b |
G |
T |
10: 75,917,165 (GRCm39) |
Y290* |
probably null |
Het |
| Slco4c1 |
A |
G |
1: 96,764,633 (GRCm39) |
F480L |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,121,162 (GRCm39) |
V146A |
unknown |
Het |
| Ssc5d |
T |
A |
7: 4,936,432 (GRCm39) |
D559E |
probably damaging |
Het |
| Sstr5 |
A |
C |
17: 25,710,584 (GRCm39) |
I215S |
probably damaging |
Het |
| Stambpl1 |
G |
A |
19: 34,212,634 (GRCm39) |
C268Y |
probably benign |
Het |
| Stard3nl |
C |
A |
13: 19,560,809 (GRCm39) |
|
probably benign |
Het |
| Sycp3 |
T |
C |
10: 88,299,734 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
T |
12: 76,009,349 (GRCm39) |
M2417L |
possibly damaging |
Het |
| Tenm4 |
T |
G |
7: 96,473,080 (GRCm39) |
Y959D |
probably damaging |
Het |
| Tmem132d |
T |
A |
5: 127,869,570 (GRCm39) |
D588V |
possibly damaging |
Het |
| Tnfrsf26 |
T |
C |
7: 143,172,130 (GRCm39) |
E60G |
possibly damaging |
Het |
| Topbp1 |
A |
G |
9: 103,205,767 (GRCm39) |
R802G |
probably benign |
Het |
| Trmu |
T |
C |
15: 85,781,096 (GRCm39) |
V360A |
probably benign |
Het |
| Tshz2 |
G |
A |
2: 169,726,562 (GRCm39) |
C386Y |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,700,771 (GRCm39) |
D61E |
|
Het |
| Upf1 |
T |
C |
8: 70,792,674 (GRCm39) |
T345A |
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,718,782 (GRCm39) |
C712S |
probably damaging |
Het |
| Vmn2r44 |
C |
T |
7: 8,371,091 (GRCm39) |
V652I |
probably benign |
Het |
| Wfdc1 |
T |
C |
8: 120,393,302 (GRCm39) |
V8A |
probably benign |
Het |
| Xrn1 |
A |
G |
9: 95,880,274 (GRCm39) |
Y738C |
probably benign |
Het |
| Zfp618 |
T |
G |
4: 63,051,511 (GRCm39) |
V764G |
probably damaging |
Het |
| Znfx1 |
A |
T |
2: 166,898,261 (GRCm39) |
M221K |
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 |
|
|
R8989:2210408I21Rik
|
UTSW |
13 |
77,760,724 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- CAAGCTTGCCTAAATTACAAAGCAT -3'
(R):5'- CATGATTTTAGTCCAGGACAATTATCC -3'
Sequencing Primer
(F):5'- TGTCCAACAGTATCTGTCT -3'
(R):5'- TTGGCCATTAGAAATAAGGATTCTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation