Incidental Mutation 'R8410:D930020B18Rik'
| ID |
656563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D930020B18Rik
|
| Ensembl Gene |
ENSMUSG00000047642 |
| Gene Name |
RIKEN cDNA D930020B18 gene |
| Synonyms |
|
| MMRRC Submission |
067880-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8410 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
121477493-121529820 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 121521435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120642]
[ENSMUST00000132744]
[ENSMUST00000140802]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120642
|
| SMART Domains |
Protein: ENSMUSP00000113963
Gene: ENSMUSG00000047642
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4551
|
11 |
617 |
3.2e-237 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132744
|
| SMART Domains |
Protein: ENSMUSP00000118274
Gene: ENSMUSG00000047642
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4551
|
1 |
148 |
3.6e-66 |
PFAM |
|
Pfam:DUF4551
|
142 |
443 |
6.1e-145 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140802
|
| SMART Domains |
Protein: ENSMUSP00000121976
Gene: ENSMUSG00000047642
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4551
|
1 |
151 |
8.7e-68 |
PFAM |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
95% (40/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
A |
T |
12: 110,635,145 (GRCm39) |
M131K |
probably benign |
Het |
| Alox15 |
T |
C |
11: 70,235,753 (GRCm39) |
T569A |
probably benign |
Het |
| Arfgef1 |
A |
G |
1: 10,229,867 (GRCm39) |
V1278A |
possibly damaging |
Het |
| Armc5 |
C |
T |
7: 127,839,323 (GRCm39) |
R214C |
probably damaging |
Het |
| Asl |
A |
G |
5: 130,042,351 (GRCm39) |
F242L |
possibly damaging |
Het |
| Atoh1 |
G |
A |
6: 64,706,634 (GRCm39) |
G110S |
probably benign |
Het |
| Caskin1 |
T |
C |
17: 24,721,123 (GRCm39) |
F488L |
possibly damaging |
Het |
| Chsy1 |
T |
A |
7: 65,775,211 (GRCm39) |
L180Q |
probably damaging |
Het |
| D1Pas1 |
A |
T |
1: 186,700,512 (GRCm39) |
Q147L |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,395,819 (GRCm39) |
|
probably null |
Het |
| Dsp |
A |
G |
13: 38,380,791 (GRCm39) |
E2512G |
possibly damaging |
Het |
| Eci2 |
T |
C |
13: 35,162,018 (GRCm39) |
K351R |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,446,598 (GRCm39) |
V2390A |
possibly damaging |
Het |
| Frmpd2 |
G |
A |
14: 33,217,624 (GRCm39) |
A40T |
probably damaging |
Het |
| Gapdhs |
G |
A |
7: 30,437,335 (GRCm39) |
P77S |
unknown |
Het |
| Heatr5a |
T |
A |
12: 51,984,903 (GRCm39) |
I637F |
probably benign |
Het |
| Jakmip1 |
G |
A |
5: 37,274,828 (GRCm39) |
V449M |
possibly damaging |
Het |
| Myh14 |
G |
T |
7: 44,282,907 (GRCm39) |
F737L |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,944,684 (GRCm39) |
V560A |
probably damaging |
Het |
| Or13n4 |
T |
A |
7: 106,423,745 (GRCm39) |
|
probably benign |
Het |
| Or2v2 |
A |
T |
11: 49,004,511 (GRCm39) |
I14N |
possibly damaging |
Het |
| Or4f4-ps1 |
T |
A |
2: 111,330,047 (GRCm39) |
M150K |
probably damaging |
Het |
| Or6x1 |
C |
T |
9: 40,098,732 (GRCm39) |
T107I |
possibly damaging |
Het |
| Prex2 |
G |
T |
1: 11,223,881 (GRCm39) |
R735L |
possibly damaging |
Het |
| Rrm2 |
T |
C |
12: 24,758,622 (GRCm39) |
S55P |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
| Ruvbl2 |
T |
C |
7: 45,080,756 (GRCm39) |
I19V |
probably benign |
Het |
| Sall3 |
G |
A |
18: 81,016,969 (GRCm39) |
P320S |
probably benign |
Het |
| Slc15a5 |
A |
T |
6: 137,989,153 (GRCm39) |
M147K |
|
Het |
| St3gal5 |
A |
G |
6: 72,119,281 (GRCm39) |
D158G |
probably benign |
Het |
| Stac3 |
G |
A |
10: 127,339,199 (GRCm39) |
D103N |
probably damaging |
Het |
| Syt2 |
G |
A |
1: 134,674,602 (GRCm39) |
E347K |
possibly damaging |
Het |
| Tent5b |
A |
G |
4: 133,214,362 (GRCm39) |
Q411R |
possibly damaging |
Het |
| Ticrr |
A |
G |
7: 79,317,423 (GRCm39) |
E319G |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,539,985 (GRCm39) |
S34334P |
probably damaging |
Het |
| Uqcrb |
C |
A |
13: 67,048,850 (GRCm39) |
R100L |
unknown |
Het |
| Usp43 |
T |
G |
11: 67,747,146 (GRCm39) |
T854P |
probably damaging |
Het |
| Vmn2r102 |
T |
C |
17: 19,898,196 (GRCm39) |
Y404H |
possibly damaging |
Het |
| Wrn |
C |
T |
8: 33,759,048 (GRCm39) |
G970D |
probably damaging |
Het |
| Zfp456 |
A |
G |
13: 67,520,915 (GRCm39) |
Y27H |
probably damaging |
Het |
| Zfp516 |
G |
T |
18: 82,974,458 (GRCm39) |
G219C |
probably damaging |
Het |
| Zyx |
A |
T |
6: 42,333,384 (GRCm39) |
N437Y |
probably benign |
Het |
|
| Other mutations in D930020B18Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00479:D930020B18Rik
|
APN |
10 |
121,521,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01669:D930020B18Rik
|
APN |
10 |
121,519,866 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01793:D930020B18Rik
|
APN |
10 |
121,507,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01907:D930020B18Rik
|
APN |
10 |
121,477,915 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01981:D930020B18Rik
|
APN |
10 |
121,528,319 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02545:D930020B18Rik
|
APN |
10 |
121,525,838 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03024:D930020B18Rik
|
APN |
10 |
121,521,527 (GRCm39) |
splice site |
probably benign |
|
|
bazooka_joe
|
UTSW |
10 |
121,503,709 (GRCm39) |
missense |
probably benign |
0.19 |
|
sluggo
|
UTSW |
10 |
121,490,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0022:D930020B18Rik
|
UTSW |
10 |
121,507,675 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0023:D930020B18Rik
|
UTSW |
10 |
121,525,726 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1872:D930020B18Rik
|
UTSW |
10 |
121,477,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2340:D930020B18Rik
|
UTSW |
10 |
121,490,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4074:D930020B18Rik
|
UTSW |
10 |
121,492,123 (GRCm39) |
intron |
probably benign |
|
|
R4990:D930020B18Rik
|
UTSW |
10 |
121,490,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4990:D930020B18Rik
|
UTSW |
10 |
121,490,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4992:D930020B18Rik
|
UTSW |
10 |
121,490,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4992:D930020B18Rik
|
UTSW |
10 |
121,490,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5096:D930020B18Rik
|
UTSW |
10 |
121,503,709 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5677:D930020B18Rik
|
UTSW |
10 |
121,505,106 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6401:D930020B18Rik
|
UTSW |
10 |
121,477,762 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6481:D930020B18Rik
|
UTSW |
10 |
121,497,053 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7070:D930020B18Rik
|
UTSW |
10 |
121,477,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7250:D930020B18Rik
|
UTSW |
10 |
121,507,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7365:D930020B18Rik
|
UTSW |
10 |
121,503,716 (GRCm39) |
splice site |
probably null |
|
|
R7408:D930020B18Rik
|
UTSW |
10 |
121,525,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7446:D930020B18Rik
|
UTSW |
10 |
121,503,650 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7559:D930020B18Rik
|
UTSW |
10 |
121,492,131 (GRCm39) |
intron |
probably benign |
|
|
R8215:D930020B18Rik
|
UTSW |
10 |
121,503,429 (GRCm39) |
nonsense |
probably null |
|
|
R8790:D930020B18Rik
|
UTSW |
10 |
121,503,568 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8968:D930020B18Rik
|
UTSW |
10 |
121,490,721 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9063:D930020B18Rik
|
UTSW |
10 |
121,497,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9296:D930020B18Rik
|
UTSW |
10 |
121,497,011 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9710:D930020B18Rik
|
UTSW |
10 |
121,503,563 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9778:D930020B18Rik
|
UTSW |
10 |
121,503,565 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0021:D930020B18Rik
|
UTSW |
10 |
121,477,790 (GRCm39) |
missense |
probably null |
1.00 |
|
Z1176:D930020B18Rik
|
UTSW |
10 |
121,503,521 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:D930020B18Rik
|
UTSW |
10 |
121,525,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATACATCCCCAGAGGTTCTC -3'
(R):5'- ACAACCCGTCTCAGAGAAGG -3'
Sequencing Primer
(F):5'- CTCTGGTGTCTAGAATTACGAGCC -3'
(R):5'- GGTCCCCAATAAAAGCGTGGTAC -3'
|
| Posted On |
2020-12-28 |
Incidental Mutation