Incidental Mutation 'R4354:4930578I06Rik'
| ID |
327459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930578I06Rik
|
| Ensembl Gene |
ENSMUSG00000021961 |
| Gene Name |
RIKEN cDNA 4930578I06 gene |
| Synonyms |
|
| MMRRC Submission |
041107-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R4354 (G1)
|
| Quality Score |
215 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
64208570-64225229 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 64210658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 190
(R190H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022532]
[ENSMUST00000224600]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022532
AA Change: R190H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022532
Gene: ENSMUSG00000021961
AA Change: R190H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLAMP
|
28 |
137 |
1.6e-11 |
PFAM |
|
low complexity region
|
260 |
270 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
298 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224600
AA Change: R190H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225544
|
| Meta Mutation Damage Score |
0.0772 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (37/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
C |
11: 109,862,518 (GRCm39) |
S416A |
probably benign |
Het |
| Abcb4 |
A |
T |
5: 8,968,771 (GRCm39) |
N370I |
probably benign |
Het |
| Abi3bp |
T |
C |
16: 56,353,314 (GRCm39) |
F81S |
probably benign |
Het |
| Ablim1 |
C |
T |
19: 57,143,710 (GRCm39) |
C83Y |
probably damaging |
Het |
| Adamtsl1 |
A |
T |
4: 86,074,921 (GRCm39) |
H96L |
probably damaging |
Het |
| Alms1-ps1 |
C |
T |
6: 85,732,617 (GRCm39) |
|
noncoding transcript |
Het |
| AU040320 |
A |
G |
4: 126,748,192 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
T |
A |
17: 17,610,263 (GRCm39) |
H472Q |
probably benign |
Het |
| Chgb |
A |
T |
2: 132,635,864 (GRCm39) |
D602V |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gpa33 |
A |
G |
1: 165,991,404 (GRCm39) |
T212A |
possibly damaging |
Het |
| Hspg2 |
C |
A |
4: 137,196,222 (GRCm39) |
A17E |
probably benign |
Het |
| Irf7 |
T |
C |
7: 140,845,183 (GRCm39) |
R8G |
probably damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,483,123 (GRCm39) |
Y1235H |
probably damaging |
Het |
| Mon2 |
T |
C |
10: 122,862,888 (GRCm39) |
T680A |
probably benign |
Het |
| Nab1 |
A |
T |
1: 52,529,855 (GRCm39) |
L14Q |
probably damaging |
Het |
| Neu4 |
C |
T |
1: 93,952,279 (GRCm39) |
T216I |
probably damaging |
Het |
| Nle1 |
A |
G |
11: 82,797,257 (GRCm39) |
C152R |
possibly damaging |
Het |
| Nprl3 |
T |
A |
11: 32,184,906 (GRCm39) |
M368L |
probably benign |
Het |
| Nudt9 |
A |
G |
5: 104,205,977 (GRCm39) |
K129E |
probably damaging |
Het |
| Or5c1 |
T |
C |
2: 37,221,888 (GRCm39) |
L43P |
probably damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,333,913 (GRCm39) |
D36G |
probably benign |
Het |
| Pga5 |
C |
T |
19: 10,652,190 (GRCm39) |
|
probably null |
Het |
| Pold3 |
T |
C |
7: 99,749,824 (GRCm39) |
K47E |
possibly damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,843,378 (GRCm39) |
I251V |
probably benign |
Het |
| Susd2 |
G |
T |
10: 75,475,562 (GRCm39) |
F447L |
probably damaging |
Het |
| Tbc1d7 |
T |
C |
13: 43,323,344 (GRCm39) |
K16E |
probably damaging |
Het |
| Tlr8 |
T |
G |
X: 166,025,868 (GRCm39) |
Q994P |
probably damaging |
Het |
| Ube2j1 |
T |
C |
4: 33,049,682 (GRCm39) |
Y227H |
probably benign |
Het |
|
| Other mutations in 4930578I06Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03085:4930578I06Rik
|
APN |
14 |
64,208,881 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0372:4930578I06Rik
|
UTSW |
14 |
64,210,931 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0610:4930578I06Rik
|
UTSW |
14 |
64,223,714 (GRCm39) |
nonsense |
probably null |
|
|
R1055:4930578I06Rik
|
UTSW |
14 |
64,210,724 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1671:4930578I06Rik
|
UTSW |
14 |
64,210,637 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1888:4930578I06Rik
|
UTSW |
14 |
64,223,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1888:4930578I06Rik
|
UTSW |
14 |
64,223,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2327:4930578I06Rik
|
UTSW |
14 |
64,208,569 (GRCm39) |
splice site |
probably null |
|
|
R4243:4930578I06Rik
|
UTSW |
14 |
64,210,658 (GRCm39) |
missense |
probably benign |
|
|
R4256:4930578I06Rik
|
UTSW |
14 |
64,210,658 (GRCm39) |
missense |
probably benign |
|
|
R4257:4930578I06Rik
|
UTSW |
14 |
64,210,658 (GRCm39) |
missense |
probably benign |
|
|
R4863:4930578I06Rik
|
UTSW |
14 |
64,210,658 (GRCm39) |
missense |
probably benign |
|
|
R4864:4930578I06Rik
|
UTSW |
14 |
64,210,658 (GRCm39) |
missense |
probably benign |
|
|
R5786:4930578I06Rik
|
UTSW |
14 |
64,210,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6240:4930578I06Rik
|
UTSW |
14 |
64,223,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6849:4930578I06Rik
|
UTSW |
14 |
64,223,688 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6849:4930578I06Rik
|
UTSW |
14 |
64,223,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8260:4930578I06Rik
|
UTSW |
14 |
64,223,633 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8305:4930578I06Rik
|
UTSW |
14 |
64,208,844 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8336:4930578I06Rik
|
UTSW |
14 |
64,223,545 (GRCm39) |
missense |
probably benign |
|
|
R8939:4930578I06Rik
|
UTSW |
14 |
64,225,162 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9407:4930578I06Rik
|
UTSW |
14 |
64,223,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGAAATGCTAGATGCCTATGTGG -3'
(R):5'- ACCAGTATGTCCTGAGCCAG -3'
Sequencing Primer
(F):5'- GTGGCTTTCTGTCTTCACTACCAG -3'
(R):5'- CCAGGATCAGGAGGTCAACC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation