Incidental Mutation 'R6621:6430548M08Rik'
| ID |
524445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
6430548M08Rik
|
| Ensembl Gene |
ENSMUSG00000031824 |
| Gene Name |
RIKEN cDNA 6430548M08 gene |
| Synonyms |
|
| MMRRC Submission |
044744-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R6621 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
120840891-120892045 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 120872162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 30
(T30M)
|
| 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 benign
Transcript: ENSMUST00000034281
AA Change: T30M
PolyPhen 2
Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000034281
Gene: ENSMUSG00000031824
AA Change: T30M
| 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: T30M
PolyPhen 2
Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000104576
Gene: ENSMUSG00000031824
AA Change: T30M
| 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: ENSMUST00000108950
AA Change: T30M
PolyPhen 2
Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104578
Gene: ENSMUSG00000031824
AA Change: T30M
| 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: ENSMUST00000108951
AA Change: T30M
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000104579
Gene: ENSMUSG00000031824
AA Change: T30M
| 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
AA Change: T30M
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000117269
Gene: ENSMUSG00000031824
AA Change: T30M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
54 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153725
AA Change: T30M
PolyPhen 2
Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114976
Gene: ENSMUSG00000031824
AA Change: T30M
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.6%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
T |
C |
5: 24,599,508 (GRCm39) |
F8L |
probably benign |
Het |
| Akap13 |
G |
T |
7: 75,219,729 (GRCm39) |
C44F |
probably damaging |
Het |
| Ankrd34a |
A |
G |
3: 96,505,531 (GRCm39) |
N245S |
possibly damaging |
Het |
| Ccdc186 |
T |
C |
19: 56,801,919 (GRCm39) |
D66G |
probably benign |
Het |
| Chat |
C |
T |
14: 32,140,970 (GRCm39) |
A476T |
probably damaging |
Het |
| Cpsf1 |
T |
C |
15: 76,487,719 (GRCm39) |
D100G |
probably damaging |
Het |
| Cpt1a |
T |
A |
19: 3,428,472 (GRCm39) |
F615L |
probably damaging |
Het |
| Dpp4 |
T |
A |
2: 62,182,484 (GRCm39) |
D599V |
probably damaging |
Het |
| Dpysl5 |
T |
C |
5: 30,941,813 (GRCm39) |
|
probably null |
Het |
| Fam234a |
A |
G |
17: 26,432,855 (GRCm39) |
L460P |
probably damaging |
Het |
| Fsip2 |
T |
G |
2: 82,820,158 (GRCm39) |
V5297G |
possibly damaging |
Het |
| Gm28363 |
A |
G |
1: 117,655,087 (GRCm39) |
D102G |
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,742,718 (GRCm39) |
V1377A |
probably damaging |
Het |
| Hat1 |
T |
A |
2: 71,252,059 (GRCm39) |
F264I |
probably benign |
Het |
| Kif3a |
A |
G |
11: 53,469,957 (GRCm39) |
I152M |
probably damaging |
Het |
| Lemd2 |
T |
C |
17: 27,414,366 (GRCm39) |
S323G |
probably benign |
Het |
| Manea |
T |
C |
4: 26,340,363 (GRCm39) |
|
probably null |
Het |
| Mcm9 |
T |
C |
10: 53,439,409 (GRCm39) |
E588G |
probably damaging |
Het |
| Mllt3 |
T |
G |
4: 87,759,034 (GRCm39) |
K338T |
possibly damaging |
Het |
| Nrxn1 |
T |
C |
17: 90,469,610 (GRCm39) |
T1324A |
probably damaging |
Het |
| Nudt8 |
T |
A |
19: 4,051,320 (GRCm39) |
Y64N |
probably benign |
Het |
| Or13a27 |
A |
G |
7: 139,925,368 (GRCm39) |
F178S |
probably damaging |
Het |
| Or2y15 |
A |
G |
11: 49,350,598 (GRCm39) |
I31V |
probably benign |
Het |
| Or51ah3 |
A |
G |
7: 103,210,085 (GRCm39) |
T134A |
possibly damaging |
Het |
| Or5ac15 |
A |
T |
16: 58,940,287 (GRCm39) |
W49R |
probably benign |
Het |
| Or5w14 |
A |
G |
2: 87,541,899 (GRCm39) |
V117A |
probably benign |
Het |
| Or8c9 |
A |
T |
9: 38,241,758 (GRCm39) |
I289F |
probably damaging |
Het |
| Osm |
T |
A |
11: 4,189,541 (GRCm39) |
D108E |
probably benign |
Het |
| Pde8a |
A |
G |
7: 80,942,878 (GRCm39) |
|
probably null |
Het |
| Phtf2 |
T |
C |
5: 21,017,954 (GRCm39) |
|
probably benign |
Het |
| Rnf214 |
T |
C |
9: 45,807,468 (GRCm39) |
D245G |
probably damaging |
Het |
| Slc10a7 |
T |
C |
8: 79,242,263 (GRCm39) |
I50T |
probably damaging |
Het |
| Slc5a6 |
A |
G |
5: 31,198,122 (GRCm39) |
V251A |
probably damaging |
Het |
| Sun3 |
T |
A |
11: 8,966,242 (GRCm39) |
T320S |
probably damaging |
Het |
| Zfp174 |
A |
G |
16: 3,665,819 (GRCm39) |
E28G |
probably damaging |
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 |
|
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 |
|
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'- GCTCCCCACACATTGTATACG -3'
(R):5'- AAGATCTTCTCTACGTAGCTGCG -3'
Sequencing Primer
(F):5'- TATACGCTTGCAGCTTCAGGAAG -3'
(R):5'- TAAACTCTCGAAGTGCCAGGGTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation