Incidental Mutation 'R6111:2210408I21Rik'
| ID |
484862 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2210408I21Rik
|
| Ensembl Gene |
ENSMUSG00000071252 |
| Gene Name |
RIKEN cDNA 2210408I21 gene |
| Synonyms |
|
| MMRRC Submission |
044260-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6111 (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 77476021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1110
(E1110G)
|
| 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: E1110G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127449
Gene: ENSMUSG00000071252
AA Change: E1110G
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
G |
A |
12: 84,661,888 (GRCm39) |
T79I |
probably damaging |
Het |
| Acd |
A |
G |
8: 106,424,919 (GRCm39) |
M407T |
probably benign |
Het |
| Adcy2 |
T |
A |
13: 68,877,360 (GRCm39) |
H460L |
probably damaging |
Het |
| Atad2 |
G |
A |
15: 57,971,487 (GRCm39) |
H752Y |
probably benign |
Het |
| Bmal2 |
T |
C |
6: 146,722,097 (GRCm39) |
F223L |
probably benign |
Het |
| Camsap2 |
A |
G |
1: 136,209,036 (GRCm39) |
S819P |
probably benign |
Het |
| Col24a1 |
C |
A |
3: 145,019,815 (GRCm39) |
T62K |
probably damaging |
Het |
| Cpne6 |
G |
A |
14: 55,752,091 (GRCm39) |
V283M |
probably benign |
Het |
| D630003M21Rik |
A |
G |
2: 158,055,368 (GRCm39) |
S590P |
probably damaging |
Het |
| Daam1 |
T |
A |
12: 71,989,038 (GRCm39) |
M146K |
unknown |
Het |
| Dclk2 |
A |
G |
3: 86,712,968 (GRCm39) |
Y495H |
probably benign |
Het |
| Ddx4 |
A |
T |
13: 112,757,766 (GRCm39) |
C330* |
probably null |
Het |
| Dlec1 |
T |
C |
9: 118,931,692 (GRCm39) |
L37P |
possibly damaging |
Het |
| Dock2 |
G |
A |
11: 34,599,614 (GRCm39) |
P322S |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,208,323 (GRCm39) |
E443G |
probably damaging |
Het |
| Eya4 |
T |
A |
10: 23,015,953 (GRCm39) |
D338V |
possibly damaging |
Het |
| Fcmr |
A |
G |
1: 130,805,566 (GRCm39) |
I267V |
probably damaging |
Het |
| Gfra3 |
T |
A |
18: 34,823,927 (GRCm39) |
H349L |
probably damaging |
Het |
| Gm25747 |
A |
G |
12: 113,392,703 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
G |
A |
9: 4,502,430 (GRCm39) |
R368C |
probably damaging |
Het |
| H2-Q5 |
A |
T |
17: 35,613,885 (GRCm39) |
I145F |
possibly damaging |
Het |
| Hace1 |
A |
T |
10: 45,465,606 (GRCm39) |
K54I |
possibly damaging |
Het |
| Ift122 |
T |
A |
6: 115,852,247 (GRCm39) |
I79N |
probably damaging |
Het |
| Ino80b |
A |
G |
6: 83,101,347 (GRCm39) |
V121A |
probably damaging |
Het |
| Kcnq1 |
A |
G |
7: 142,661,474 (GRCm39) |
T63A |
probably benign |
Het |
| Map4k4 |
C |
A |
1: 40,050,822 (GRCm39) |
Q762K |
probably benign |
Het |
| Mios |
G |
A |
6: 8,214,836 (GRCm39) |
A11T |
probably benign |
Het |
| Nfatc1 |
A |
G |
18: 80,741,125 (GRCm39) |
S278P |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,053,609 (GRCm39) |
S2091P |
probably benign |
Het |
| Nudt19 |
T |
A |
7: 35,254,952 (GRCm39) |
D93V |
probably benign |
Het |
| Or8b12b |
T |
C |
9: 37,684,228 (GRCm39) |
I91T |
probably damaging |
Het |
| Osbpl2 |
A |
G |
2: 179,791,994 (GRCm39) |
T233A |
probably benign |
Het |
| P3h1 |
C |
T |
4: 119,098,329 (GRCm39) |
R369* |
probably null |
Het |
| Pcdhb3 |
A |
T |
18: 37,435,242 (GRCm39) |
I403L |
probably benign |
Het |
| Pigo |
T |
C |
4: 43,019,724 (GRCm39) |
D935G |
probably benign |
Het |
| Plpp1 |
A |
G |
13: 113,003,451 (GRCm39) |
H224R |
probably damaging |
Het |
| Rai1 |
T |
A |
11: 60,078,732 (GRCm39) |
M932K |
probably damaging |
Het |
| Rexo2 |
A |
T |
9: 48,384,412 (GRCm39) |
F122L |
probably damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Sdc3 |
A |
G |
4: 130,546,153 (GRCm39) |
T77A |
unknown |
Het |
| Skint5 |
T |
C |
4: 113,562,845 (GRCm39) |
T786A |
unknown |
Het |
| Smok3c |
C |
A |
5: 138,063,365 (GRCm39) |
P284Q |
probably damaging |
Het |
| Spg11 |
A |
G |
2: 121,923,963 (GRCm39) |
V786A |
probably damaging |
Het |
| Tmem273 |
T |
C |
14: 32,528,755 (GRCm39) |
I40T |
possibly damaging |
Het |
| Tnfrsf10b |
T |
A |
14: 70,020,007 (GRCm39) |
C380S |
possibly damaging |
Het |
| Tsen54 |
T |
C |
11: 115,710,956 (GRCm39) |
V176A |
possibly damaging |
Het |
| Ttll4 |
A |
T |
1: 74,736,698 (GRCm39) |
K1141M |
possibly damaging |
Het |
| Ttpa |
A |
T |
4: 20,014,772 (GRCm39) |
I116F |
probably damaging |
Het |
| Tubgcp6 |
T |
C |
15: 88,985,123 (GRCm39) |
D1655G |
possibly damaging |
Het |
| Usp38 |
A |
G |
8: 81,740,551 (GRCm39) |
V172A |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,520,997 (GRCm39) |
S324P |
probably benign |
Het |
| Wdr72 |
T |
C |
9: 74,117,607 (GRCm39) |
M773T |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,342,161 (GRCm39) |
H1467Q |
possibly damaging |
Het |
| Zdhhc8 |
G |
T |
16: 18,042,762 (GRCm39) |
S479R |
probably damaging |
Het |
| Zfp423 |
A |
G |
8: 88,509,315 (GRCm39) |
V322A |
probably damaging |
Het |
| Zfp87 |
T |
G |
13: 74,520,504 (GRCm39) |
E191D |
probably benign |
Het |
| Zfp933 |
T |
C |
4: 147,913,217 (GRCm39) |
T14A |
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 |
|
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'- AAATGCTTTCAGGTGCTTCGTC -3'
(R):5'- ACTAACCCTTAGCTGCCAGC -3'
Sequencing Primer
(F):5'- TCAGGTGCTTCGTCCCCAG -3'
(R):5'- ACCTCATTGAGCTGCATG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation