Incidental Mutation 'R1019:6430548M08Rik'
ID |
96760 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
6430548M08Rik
|
Ensembl Gene |
ENSMUSG00000031824 |
Gene Name |
RIKEN cDNA 6430548M08 gene |
Synonyms |
|
MMRRC Submission |
039123-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
R1019 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
120840891-120892045 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 120872209 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glutamine
at position 46
(E46Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117269
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034281]
[ENSMUST00000108948]
[ENSMUST00000108950]
[ENSMUST00000108951]
[ENSMUST00000127664]
[ENSMUST00000132229]
[ENSMUST00000153725]
|
AlphaFold |
Q8R0A7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034281
AA Change: E46Q
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000034281 Gene: ENSMUSG00000031824 AA Change: E46Q
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
54 |
N/A |
INTRINSIC |
low complexity region
|
68 |
87 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108948
AA Change: E46Q
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104576 Gene: ENSMUSG00000031824 AA Change: E46Q
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
54 |
N/A |
INTRINSIC |
low complexity region
|
68 |
87 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108950
AA Change: E46Q
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000104578 Gene: ENSMUSG00000031824 AA Change: E46Q
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
54 |
N/A |
INTRINSIC |
low complexity region
|
68 |
87 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108951
AA Change: E46Q
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000104579 Gene: ENSMUSG00000031824 AA Change: E46Q
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 damaging
Transcript: ENSMUST00000132229
AA Change: E46Q
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000117269 Gene: ENSMUSG00000031824 AA Change: E46Q
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
54 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153725
AA Change: E46Q
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000114976 Gene: ENSMUSG00000031824 AA Change: E46Q
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: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130401M01Rik |
A |
G |
15: 57,885,823 (GRCm39) |
I353T |
possibly damaging |
Het |
A830031A19Rik |
G |
A |
11: 23,999,438 (GRCm39) |
R53C |
unknown |
Het |
Abcc6 |
T |
C |
7: 45,663,531 (GRCm39) |
R378G |
possibly damaging |
Het |
Adam10 |
A |
G |
9: 70,668,922 (GRCm39) |
N413D |
probably benign |
Het |
Csmd2 |
T |
C |
4: 128,415,807 (GRCm39) |
V2712A |
probably benign |
Het |
Dnhd1 |
T |
C |
7: 105,358,378 (GRCm39) |
F3289S |
probably damaging |
Het |
Hectd1 |
A |
G |
12: 51,795,440 (GRCm39) |
S2330P |
probably damaging |
Het |
Ift74 |
C |
T |
4: 94,524,072 (GRCm39) |
A196V |
probably benign |
Het |
Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
Lipo2 |
A |
T |
19: 33,708,257 (GRCm39) |
C252* |
probably null |
Het |
Mrgpra1 |
C |
G |
7: 46,984,833 (GRCm39) |
C282S |
probably benign |
Het |
Nfatc2 |
A |
T |
2: 168,346,799 (GRCm39) |
L765Q |
probably damaging |
Het |
Or13a26 |
C |
T |
7: 140,284,407 (GRCm39) |
P81L |
probably damaging |
Het |
Or1l8 |
A |
G |
2: 36,817,764 (GRCm39) |
F121L |
probably benign |
Het |
Otof |
C |
A |
5: 30,528,087 (GRCm39) |
V1924L |
probably damaging |
Het |
Pdhb |
T |
C |
14: 8,171,442 (GRCm38) |
Q62R |
probably benign |
Het |
Plbd1 |
A |
G |
6: 136,628,903 (GRCm39) |
V55A |
probably benign |
Het |
Poteg |
T |
A |
8: 27,937,852 (GRCm39) |
F3I |
possibly damaging |
Het |
Rptor |
A |
G |
11: 119,734,569 (GRCm39) |
D46G |
probably damaging |
Het |
Slc18a1 |
C |
T |
8: 69,527,685 (GRCm39) |
|
probably null |
Het |
Slc37a1 |
A |
G |
17: 31,534,568 (GRCm39) |
N80S |
probably benign |
Het |
Slc6a18 |
T |
A |
13: 73,825,998 (GRCm39) |
R17S |
probably damaging |
Het |
Spata31d1a |
A |
G |
13: 59,850,182 (GRCm39) |
S649P |
probably benign |
Het |
Syngr3 |
G |
T |
17: 24,906,534 (GRCm39) |
Q94K |
possibly damaging |
Het |
Tgm2 |
C |
A |
2: 157,966,074 (GRCm39) |
E527* |
probably null |
Het |
Tnc |
T |
A |
4: 63,880,319 (GRCm39) |
T1952S |
probably damaging |
Het |
Ubqln3 |
C |
T |
7: 103,790,593 (GRCm39) |
R499Q |
probably benign |
Het |
Uck1 |
A |
G |
2: 32,146,205 (GRCm39) |
V230A |
possibly damaging |
Het |
Unc13d |
G |
A |
11: 115,958,900 (GRCm39) |
R754C |
probably benign |
Het |
Zfp708 |
C |
T |
13: 67,222,162 (GRCm39) |
A73T |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTCCATTGCAGACGCCACAGG -3'
(R):5'- CGCATAAACTCTCGAAGTGCCAGG -3'
Sequencing Primer
(F):5'- TCTGAGCTGCAAGAGACTTC -3'
(R):5'- TCGAAGTGCCAGGGTCTC -3'
|
Posted On |
2014-01-05 |