Incidental Mutation 'R1140:6430548M08Rik'
| ID |
102037 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
6430548M08Rik
|
| Ensembl Gene |
ENSMUSG00000031824 |
| Gene Name |
RIKEN cDNA 6430548M08 gene |
| Synonyms |
|
| MMRRC Submission |
039213-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R1140 (G1)
|
| Quality Score |
223 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
120840891-120892045 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120876874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 161
(S161T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104576
(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: S161T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034281
Gene: ENSMUSG00000031824
AA Change: S161T
| 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: S161T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104576
Gene: ENSMUSG00000031824
AA Change: S161T
| 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: S161T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104578
Gene: ENSMUSG00000031824
AA Change: S161T
| 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: S161T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104579
Gene: ENSMUSG00000031824
AA Change: S161T
| 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: S161T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114976
Gene: ENSMUSG00000031824
AA Change: S161T
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
A |
19: 8,981,609 (GRCm39) |
D964E |
probably damaging |
Het |
| Aldh18a1 |
T |
C |
19: 40,562,729 (GRCm39) |
I215V |
probably benign |
Het |
| Arfgef3 |
T |
A |
10: 18,473,096 (GRCm39) |
I1656F |
possibly damaging |
Het |
| Aurka |
T |
C |
2: 172,199,149 (GRCm39) |
D285G |
probably damaging |
Het |
| Cep83 |
A |
G |
10: 94,573,752 (GRCm39) |
K214E |
probably damaging |
Het |
| Dis3l2 |
A |
T |
1: 86,749,160 (GRCm39) |
T209S |
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,953,643 (GRCm39) |
M363T |
possibly damaging |
Het |
| Dsc2 |
C |
A |
18: 20,165,269 (GRCm39) |
K901N |
probably damaging |
Het |
| Fam234b |
A |
T |
6: 135,202,756 (GRCm39) |
H370L |
probably benign |
Het |
| Fanca |
A |
C |
8: 124,039,868 (GRCm39) |
|
probably null |
Het |
| Fastkd5 |
C |
T |
2: 130,458,135 (GRCm39) |
V152I |
probably benign |
Het |
| Fndc1 |
T |
C |
17: 7,994,258 (GRCm39) |
R337G |
unknown |
Het |
| Fsip2 |
T |
A |
2: 82,805,378 (GRCm39) |
Y566N |
probably damaging |
Het |
| Gsc |
A |
T |
12: 104,439,361 (GRCm39) |
M5K |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,412,733 (GRCm39) |
E1893G |
unknown |
Het |
| Myh7 |
T |
C |
14: 55,210,339 (GRCm39) |
T1789A |
probably damaging |
Het |
| Npr2 |
A |
G |
4: 43,648,353 (GRCm39) |
T884A |
possibly damaging |
Het |
| Or1e29 |
T |
A |
11: 73,667,680 (GRCm39) |
M158L |
probably benign |
Het |
| Parg |
T |
C |
14: 32,018,200 (GRCm39) |
S432P |
probably benign |
Het |
| Ptdss1 |
T |
C |
13: 67,111,420 (GRCm39) |
V162A |
probably benign |
Het |
| Samsn1 |
C |
T |
16: 75,685,630 (GRCm39) |
E43K |
possibly damaging |
Het |
| Sis |
C |
T |
3: 72,858,949 (GRCm39) |
V361I |
probably damaging |
Het |
| Speg |
A |
T |
1: 75,405,739 (GRCm39) |
N2981I |
probably damaging |
Het |
| Stk32c |
C |
T |
7: 138,705,095 (GRCm39) |
R23Q |
probably damaging |
Het |
| Taok3 |
T |
C |
5: 117,366,118 (GRCm39) |
S231P |
possibly damaging |
Het |
| Tbc1d2b |
A |
G |
9: 90,108,429 (GRCm39) |
V374A |
possibly damaging |
Het |
| Xxylt1 |
T |
A |
16: 30,826,666 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in 6430548M08Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02861:6430548M08Rik
|
APN |
8 |
120,876,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation