Incidental Mutation 'R8746:2210408I21Rik'
| ID |
663570 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2210408I21Rik
|
| Ensembl Gene |
ENSMUSG00000071252 |
| Gene Name |
RIKEN cDNA 2210408I21 gene |
| Synonyms |
|
| MMRRC Submission |
068590-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8746 (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 A
at 77451529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 871
(M871K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168779]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168779
AA Change: M871K
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000127449
Gene: ENSMUSG00000071252
AA Change: M871K
| 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: 99.5%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530400C23Rik |
A |
C |
6: 133,271,256 (GRCm39) |
E100A |
possibly damaging |
Het |
| Aatf |
A |
T |
11: 84,402,338 (GRCm39) |
I116N |
probably benign |
Het |
| Abcb11 |
G |
T |
2: 69,087,754 (GRCm39) |
|
probably benign |
Het |
| Adarb2 |
G |
T |
13: 8,802,680 (GRCm39) |
A652S |
probably benign |
Het |
| Adgb |
C |
T |
10: 10,281,028 (GRCm39) |
|
probably null |
Het |
| Ankrd34a |
C |
T |
3: 96,504,791 (GRCm39) |
|
probably benign |
Het |
| Ano2 |
A |
G |
6: 125,840,513 (GRCm39) |
I395V |
probably benign |
Het |
| Cadm2 |
C |
A |
16: 66,581,696 (GRCm39) |
R203L |
probably damaging |
Het |
| Ccr2 |
T |
C |
9: 123,906,448 (GRCm39) |
F243L |
probably benign |
Het |
| Ccr4 |
A |
G |
9: 114,321,918 (GRCm39) |
V49A |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,803,465 (GRCm39) |
G833R |
probably damaging |
Het |
| Corin |
T |
C |
5: 72,592,695 (GRCm39) |
D234G |
probably benign |
Het |
| Drd5 |
G |
T |
5: 38,477,433 (GRCm39) |
R142I |
probably benign |
Het |
| Dsg1b |
A |
G |
18: 20,529,056 (GRCm39) |
D264G |
probably damaging |
Het |
| Ezh2 |
T |
C |
6: 47,553,534 (GRCm39) |
K61R |
probably damaging |
Het |
| Frmd4b |
T |
A |
6: 97,269,370 (GRCm39) |
T981S |
probably benign |
Het |
| Gcg |
T |
A |
2: 62,305,325 (GRCm39) |
K180N |
probably damaging |
Het |
| Gm10840 |
G |
A |
11: 106,051,742 (GRCm39) |
E23K |
unknown |
Het |
| Gm2696 |
T |
G |
10: 77,651,037 (GRCm39) |
C174W |
unknown |
Het |
| Grin2b |
T |
C |
6: 135,899,985 (GRCm39) |
I299V |
probably benign |
Het |
| Hepacam |
T |
A |
9: 37,293,030 (GRCm39) |
V207E |
probably damaging |
Het |
| Igf1r |
T |
A |
7: 67,864,745 (GRCm39) |
M1181K |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,806,384 (GRCm39) |
S96P |
possibly damaging |
Het |
| Marf1 |
T |
A |
16: 13,935,168 (GRCm39) |
E1533D |
probably benign |
Het |
| Megf9 |
A |
G |
4: 70,353,511 (GRCm39) |
C432R |
probably damaging |
Het |
| Mpp2 |
A |
G |
11: 101,954,040 (GRCm39) |
Y236H |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,172,613 (GRCm39) |
I1565V |
probably damaging |
Het |
| Or2y1f |
A |
G |
11: 49,183,993 (GRCm39) |
|
probably benign |
Het |
| Or56b2j |
A |
T |
7: 104,353,067 (GRCm39) |
I98F |
probably damaging |
Het |
| Or5ac21 |
T |
A |
16: 59,123,973 (GRCm39) |
F152L |
probably benign |
Het |
| Or5b3 |
A |
G |
19: 13,388,092 (GRCm39) |
D53G |
probably benign |
Het |
| Or5g24-ps1 |
T |
A |
2: 85,464,221 (GRCm39) |
Y149* |
probably null |
Het |
| Or6f1 |
C |
T |
7: 85,970,437 (GRCm39) |
C241Y |
probably damaging |
Het |
| Or9k2b |
T |
C |
10: 130,016,086 (GRCm39) |
Y221C |
probably damaging |
Het |
| Patj |
T |
A |
4: 98,394,067 (GRCm39) |
|
probably benign |
Het |
| Pknox1 |
A |
T |
17: 31,809,624 (GRCm39) |
Q76L |
possibly damaging |
Het |
| Plekhg1 |
C |
A |
10: 3,907,777 (GRCm39) |
T953K |
|
Het |
| Plekhn1 |
C |
A |
4: 156,316,682 (GRCm39) |
R333L |
probably damaging |
Het |
| Plk5 |
T |
A |
10: 80,194,610 (GRCm39) |
V111D |
probably benign |
Het |
| Polr1b |
A |
G |
2: 128,954,597 (GRCm39) |
I398M |
possibly damaging |
Het |
| Ranbp3 |
T |
C |
17: 57,009,826 (GRCm39) |
V137A |
probably benign |
Het |
| Rc3h1 |
T |
A |
1: 160,757,744 (GRCm39) |
F21I |
probably damaging |
Het |
| Rgs8 |
T |
C |
1: 153,547,537 (GRCm39) |
S56P |
probably damaging |
Het |
| Rhpn1 |
G |
A |
15: 75,585,425 (GRCm39) |
V593M |
probably damaging |
Het |
| Sdad1 |
A |
G |
5: 92,437,784 (GRCm39) |
S589P |
probably benign |
Het |
| Skp1 |
A |
G |
11: 52,136,843 (GRCm39) |
K163R |
probably damaging |
Het |
| Slf2 |
A |
G |
19: 44,962,063 (GRCm39) |
Y1080C |
probably damaging |
Het |
| Tcf4 |
C |
T |
18: 69,654,572 (GRCm39) |
|
probably benign |
Het |
| Tmem144 |
C |
T |
3: 79,732,655 (GRCm39) |
V208M |
probably damaging |
Het |
| Tomm34 |
A |
T |
2: 163,902,884 (GRCm39) |
L142Q |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,176,120 (GRCm39) |
V2316D |
unknown |
Het |
| Yme1l1 |
T |
A |
2: 23,052,543 (GRCm39) |
S66T |
probably benign |
Het |
| Zfc3h1 |
T |
C |
10: 115,243,885 (GRCm39) |
S739P |
probably damaging |
Het |
| Zscan25 |
T |
A |
5: 145,224,157 (GRCm39) |
V209E |
possibly 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 |
|
|
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'- CAACTGCACTAAGAAGCAAGTG -3'
(R):5'- TCCAAACAGAAGCTCTATAAGATGC -3'
Sequencing Primer
(F):5'- CTGCACTAAGAAGCAAGTGTATGTC -3'
(R):5'- GCATCAACCTTTGAAAGCA -3'
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| Posted On |
2021-03-08 |
Incidental Mutation