Incidental Mutation 'R0104:3100002H09Rik'
ID |
17868 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
3100002H09Rik
|
Ensembl Gene |
ENSMUSG00000051219 |
Gene Name |
RIKEN cDNA 3100002H09 gene |
Synonyms |
|
MMRRC Submission |
038390-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R0104 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
124503724-124504596 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 124504469 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 28
(A28S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053274
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053604]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053604
AA Change: A28S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000053274 Gene: ENSMUSG00000051219 AA Change: A28S
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184062
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 75.5%
- 3x: 52.6%
- 10x: 7.5%
- 20x: 3.0%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap5 |
A |
T |
12: 52,563,500 (GRCm39) |
D157V |
probably damaging |
Het |
Cfap54 |
G |
T |
10: 92,864,514 (GRCm39) |
H142N |
probably damaging |
Het |
Dpp10 |
A |
T |
1: 123,295,572 (GRCm39) |
M525K |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,809,317 (GRCm39) |
T1879S |
possibly damaging |
Het |
Gm14129 |
T |
C |
2: 148,773,493 (GRCm39) |
|
noncoding transcript |
Het |
Ighv2-7 |
A |
T |
12: 113,771,088 (GRCm39) |
W66R |
probably damaging |
Het |
Kif11 |
T |
A |
19: 37,401,663 (GRCm39) |
V880D |
probably benign |
Het |
Mcpt1 |
T |
A |
14: 56,256,888 (GRCm39) |
M142K |
possibly damaging |
Het |
Mlst8 |
T |
C |
17: 24,695,091 (GRCm39) |
N264S |
possibly damaging |
Het |
Nmrk1 |
T |
A |
19: 18,618,582 (GRCm39) |
S88R |
probably benign |
Het |
Or14j2 |
T |
A |
17: 37,885,817 (GRCm39) |
I166F |
probably damaging |
Het |
Or8d23 |
A |
G |
9: 38,842,261 (GRCm39) |
S265G |
possibly damaging |
Het |
Rtn1 |
A |
T |
12: 72,355,619 (GRCm39) |
I109N |
probably damaging |
Het |
Slc15a2 |
T |
A |
16: 36,594,997 (GRCm39) |
L156F |
possibly damaging |
Het |
Slc22a21 |
A |
C |
11: 53,842,635 (GRCm39) |
M498R |
probably null |
Het |
Ssc5d |
T |
C |
7: 4,939,285 (GRCm39) |
S574P |
probably benign |
Het |
Taf2 |
T |
C |
15: 54,901,734 (GRCm39) |
D820G |
probably benign |
Het |
Tas2r135 |
A |
T |
6: 42,383,258 (GRCm39) |
I266F |
possibly damaging |
Het |
Trgv4 |
C |
T |
13: 19,369,480 (GRCm39) |
H75Y |
probably damaging |
Het |
Vil1 |
A |
G |
1: 74,457,525 (GRCm39) |
K53E |
probably benign |
Het |
Zfc3h1 |
T |
A |
10: 115,251,192 (GRCm39) |
M1261K |
possibly damaging |
Het |
Zfp655 |
T |
C |
5: 145,180,825 (GRCm39) |
S228P |
probably damaging |
Het |
Zfyve9 |
C |
A |
4: 108,575,360 (GRCm39) |
D574Y |
probably damaging |
Het |
|
Other mutations in 3100002H09Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00972:3100002H09Rik
|
APN |
4 |
124,504,484 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01363:3100002H09Rik
|
APN |
4 |
124,504,483 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02139:3100002H09Rik
|
APN |
4 |
124,504,369 (GRCm39) |
missense |
unknown |
|
IGL02641:3100002H09Rik
|
APN |
4 |
124,504,510 (GRCm39) |
missense |
unknown |
|
R1522:3100002H09Rik
|
UTSW |
4 |
124,504,487 (GRCm39) |
missense |
probably damaging |
0.99 |
R5590:3100002H09Rik
|
UTSW |
4 |
124,504,280 (GRCm39) |
missense |
unknown |
|
R6136:3100002H09Rik
|
UTSW |
4 |
124,504,181 (GRCm39) |
missense |
unknown |
|
R6251:3100002H09Rik
|
UTSW |
4 |
124,504,445 (GRCm39) |
missense |
probably damaging |
0.99 |
R6667:3100002H09Rik
|
UTSW |
4 |
124,504,435 (GRCm39) |
missense |
probably damaging |
0.99 |
R8709:3100002H09Rik
|
UTSW |
4 |
124,504,316 (GRCm39) |
missense |
unknown |
|
R9478:3100002H09Rik
|
UTSW |
4 |
124,504,151 (GRCm39) |
missense |
unknown |
|
Z1176:3100002H09Rik
|
UTSW |
4 |
124,504,498 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2013-03-25 |