Incidental Mutation 'IGL02861:6430548M08Rik'
| ID |
362156 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
6430548M08Rik
|
| Ensembl Gene |
ENSMUSG00000031824 |
| Gene Name |
RIKEN cDNA 6430548M08 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
IGL02861
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
120840891-120892045 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 120876863 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 157
(R157H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034281]
[ENSMUST00000108948]
[ENSMUST00000108950]
[ENSMUST00000108951]
[ENSMUST00000127664]
[ENSMUST00000132229]
[ENSMUST00000153725]
|
| AlphaFold |
Q8R0A7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034281
AA Change: R157H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034281
Gene: ENSMUSG00000031824
AA Change: R157H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
87 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108948
AA Change: R157H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104576
Gene: ENSMUSG00000031824
AA Change: R157H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
87 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108950
AA Change: R157H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104578
Gene: ENSMUSG00000031824
AA Change: R157H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
87 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108951
AA Change: R157H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104579
Gene: ENSMUSG00000031824
AA Change: R157H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
87 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132229
|
| SMART Domains |
Protein: ENSMUSP00000117269
Gene: ENSMUSG00000031824
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
54 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153725
AA Change: R157H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114976
Gene: ENSMUSG00000031824
AA Change: R157H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
87 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212474
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
A |
T |
13: 61,001,146 (GRCm39) |
|
probably benign |
Het |
| Amer3 |
A |
G |
1: 34,627,206 (GRCm39) |
K482E |
probably damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,622,566 (GRCm39) |
S429T |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,569,157 (GRCm39) |
N125I |
probably damaging |
Het |
| BC106179 |
T |
A |
16: 23,042,746 (GRCm39) |
|
probably benign |
Het |
| Bclaf3 |
T |
C |
X: 158,338,524 (GRCm39) |
I457T |
possibly damaging |
Het |
| Cbr3 |
T |
G |
16: 93,482,007 (GRCm39) |
V121G |
probably damaging |
Het |
| Cd44 |
A |
G |
2: 102,662,826 (GRCm39) |
|
probably null |
Het |
| Cd72 |
G |
A |
4: 43,448,332 (GRCm39) |
A316V |
probably benign |
Het |
| Cdc27 |
A |
T |
11: 104,413,657 (GRCm39) |
|
probably benign |
Het |
| Cdon |
A |
T |
9: 35,398,253 (GRCm39) |
Q990L |
probably damaging |
Het |
| Clk2 |
T |
C |
3: 89,080,706 (GRCm39) |
W231R |
probably damaging |
Het |
| Cpsf2 |
G |
A |
12: 101,965,825 (GRCm39) |
V597I |
probably benign |
Het |
| D630003M21Rik |
A |
G |
2: 158,042,918 (GRCm39) |
V874A |
probably benign |
Het |
| Daam2 |
A |
G |
17: 49,776,455 (GRCm39) |
F811L |
probably damaging |
Het |
| Ddx54 |
T |
C |
5: 120,756,195 (GRCm39) |
|
probably benign |
Het |
| Dysf |
T |
A |
6: 84,016,519 (GRCm39) |
L59Q |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,476,597 (GRCm39) |
Y601H |
probably damaging |
Het |
| Faf2 |
T |
C |
13: 54,796,235 (GRCm39) |
Y131H |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,445,067 (GRCm39) |
D101E |
possibly damaging |
Het |
| Hk2 |
T |
C |
6: 82,737,139 (GRCm39) |
T30A |
possibly damaging |
Het |
| Il27 |
A |
T |
7: 126,191,821 (GRCm39) |
L77Q |
probably damaging |
Het |
| Klhdc1 |
T |
A |
12: 69,298,225 (GRCm39) |
V83D |
possibly damaging |
Het |
| Manba |
T |
G |
3: 135,276,024 (GRCm39) |
S822A |
probably benign |
Het |
| Mterf2 |
A |
C |
10: 84,956,195 (GRCm39) |
V143G |
probably damaging |
Het |
| Ncapd3 |
A |
G |
9: 26,981,195 (GRCm39) |
D895G |
probably benign |
Het |
| Or4c115 |
T |
A |
2: 88,927,801 (GRCm39) |
I157L |
probably benign |
Het |
| Or6n1 |
T |
A |
1: 173,916,602 (GRCm39) |
|
probably benign |
Het |
| Panx1 |
T |
C |
9: 14,919,101 (GRCm39) |
K253E |
probably benign |
Het |
| Phc1 |
T |
A |
6: 122,300,748 (GRCm39) |
|
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Ptchd4 |
A |
G |
17: 42,688,208 (GRCm39) |
E250G |
probably damaging |
Het |
| Rp1 |
G |
T |
1: 4,416,375 (GRCm39) |
S1579* |
probably null |
Het |
| Rrp1 |
A |
G |
10: 78,245,056 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,483,186 (GRCm39) |
L4187P |
possibly damaging |
Het |
| Serpinc1 |
A |
T |
1: 160,827,561 (GRCm39) |
I387F |
probably damaging |
Het |
| Slc2a7 |
G |
A |
4: 150,252,836 (GRCm39) |
C492Y |
probably benign |
Het |
| Slf1 |
A |
G |
13: 77,274,478 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,039,164 (GRCm39) |
L1169Q |
probably damaging |
Het |
| Stap1 |
T |
A |
5: 86,219,824 (GRCm39) |
|
probably benign |
Het |
| Taf6 |
A |
G |
5: 138,182,147 (GRCm39) |
L66P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,632,841 (GRCm39) |
E14071G |
probably damaging |
Het |
| Unk |
A |
G |
11: 115,947,125 (GRCm39) |
H586R |
possibly damaging |
Het |
| Zfpm2 |
A |
C |
15: 40,966,662 (GRCm39) |
K917T |
probably damaging |
Het |
|
| Other mutations in 6430548M08Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0137:6430548M08Rik
|
UTSW |
8 |
120,878,115 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1019:6430548M08Rik
|
UTSW |
8 |
120,872,209 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1140:6430548M08Rik
|
UTSW |
8 |
120,876,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2026:6430548M08Rik
|
UTSW |
8 |
120,880,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2209:6430548M08Rik
|
UTSW |
8 |
120,884,227 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2508:6430548M08Rik
|
UTSW |
8 |
120,872,132 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2884:6430548M08Rik
|
UTSW |
8 |
120,872,250 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3724:6430548M08Rik
|
UTSW |
8 |
120,876,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3944:6430548M08Rik
|
UTSW |
8 |
120,879,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4584:6430548M08Rik
|
UTSW |
8 |
120,886,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4668:6430548M08Rik
|
UTSW |
8 |
120,887,153 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5883:6430548M08Rik
|
UTSW |
8 |
120,872,380 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6621:6430548M08Rik
|
UTSW |
8 |
120,872,162 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6919:6430548M08Rik
|
UTSW |
8 |
120,872,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7023:6430548M08Rik
|
UTSW |
8 |
120,872,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7035:6430548M08Rik
|
UTSW |
8 |
120,879,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7218:6430548M08Rik
|
UTSW |
8 |
120,872,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7343:6430548M08Rik
|
UTSW |
8 |
120,872,327 (GRCm39) |
missense |
probably benign |
|
|
R7424:6430548M08Rik
|
UTSW |
8 |
120,872,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7711:6430548M08Rik
|
UTSW |
8 |
120,886,723 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8511:6430548M08Rik
|
UTSW |
8 |
120,879,301 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9009:6430548M08Rik
|
UTSW |
8 |
120,878,279 (GRCm39) |
intron |
probably benign |
|
|
R9489:6430548M08Rik
|
UTSW |
8 |
120,872,380 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9605:6430548M08Rik
|
UTSW |
8 |
120,872,380 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9606:6430548M08Rik
|
UTSW |
8 |
120,880,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation