Incidental Mutation 'R4525:9430097D07Rik'
ID |
334394 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
9430097D07Rik
|
Ensembl Gene |
ENSMUSG00000075405 |
Gene Name |
RIKEN cDNA 9430097D07 gene |
Synonyms |
|
MMRRC Submission |
041767-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R4525 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
32464196-32465696 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 32464388 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124665
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028151]
[ENSMUST00000048375]
[ENSMUST00000055304]
[ENSMUST00000100188]
[ENSMUST00000100190]
[ENSMUST00000140592]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028151
|
SMART Domains |
Protein: ENSMUSP00000028151 Gene: ENSMUSG00000026810
Domain | Start | End | E-Value | Type |
Pfam:DPM2
|
5 |
80 |
4.2e-35 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000048375
|
SMART Domains |
Protein: ENSMUSP00000044731 Gene: ENSMUSG00000039157
Domain | Start | End | E-Value | Type |
Pfam:NT-C2
|
6 |
152 |
4.8e-32 |
PFAM |
low complexity region
|
177 |
194 |
N/A |
INTRINSIC |
low complexity region
|
262 |
273 |
N/A |
INTRINSIC |
low complexity region
|
283 |
309 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000055304
|
SMART Domains |
Protein: ENSMUSP00000051282 Gene: ENSMUSG00000046854
Domain | Start | End | E-Value | Type |
Pfam:PIP5K
|
127 |
393 |
4.2e-62 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100188
|
SMART Domains |
Protein: ENSMUSP00000097763 Gene: ENSMUSG00000046854
Domain | Start | End | E-Value | Type |
Pfam:PIP5K
|
165 |
358 |
4.3e-49 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000100190
AA Change: V137A
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128039
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150419
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134204
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136816
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140592
|
SMART Domains |
Protein: ENSMUSP00000124665 Gene: ENSMUSG00000026810
Domain | Start | End | E-Value | Type |
Pfam:DPM2
|
5 |
68 |
3e-30 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
97% (32/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ampd1 |
T |
C |
3: 103,002,049 (GRCm39) |
V510A |
probably damaging |
Het |
Aoc1 |
A |
G |
6: 48,883,609 (GRCm39) |
Y495C |
probably damaging |
Het |
Asap2 |
G |
A |
12: 21,279,293 (GRCm39) |
|
probably null |
Het |
Cd47 |
T |
C |
16: 49,688,155 (GRCm39) |
V25A |
probably benign |
Het |
Cer1 |
A |
G |
4: 82,802,906 (GRCm39) |
F139L |
possibly damaging |
Het |
Cpne3 |
G |
T |
4: 19,523,206 (GRCm39) |
P527H |
probably damaging |
Het |
Erbin |
T |
C |
13: 103,993,600 (GRCm39) |
I347V |
probably benign |
Het |
Gm17542 |
T |
C |
10: 58,549,435 (GRCm39) |
D31G |
probably null |
Het |
Hivep1 |
T |
A |
13: 42,309,289 (GRCm39) |
C510S |
probably benign |
Het |
Hnrnpk |
A |
G |
13: 58,541,696 (GRCm39) |
|
probably benign |
Het |
Iqcf4 |
T |
A |
9: 106,447,827 (GRCm39) |
Q27H |
possibly damaging |
Het |
Kcna4 |
C |
A |
2: 107,125,410 (GRCm39) |
T48K |
possibly damaging |
Het |
Loxhd1 |
T |
A |
18: 77,444,608 (GRCm39) |
C336S |
probably damaging |
Het |
Ltbp3 |
A |
G |
19: 5,796,387 (GRCm39) |
T306A |
probably benign |
Het |
Oplah |
G |
T |
15: 76,189,709 (GRCm39) |
L176M |
probably damaging |
Het |
Pon1 |
T |
C |
6: 5,177,412 (GRCm39) |
|
probably null |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,133 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,483,966 (GRCm39) |
I3932T |
probably damaging |
Het |
Shank1 |
A |
T |
7: 44,004,014 (GRCm39) |
H1902L |
possibly damaging |
Het |
Sipa1 |
T |
A |
19: 5,701,985 (GRCm39) |
Q947L |
probably benign |
Het |
Slit2 |
G |
T |
5: 48,407,215 (GRCm39) |
C882F |
probably damaging |
Het |
Speer4a1 |
A |
T |
5: 26,244,341 (GRCm39) |
|
probably null |
Het |
Spta1 |
A |
G |
1: 174,034,676 (GRCm39) |
D1035G |
probably null |
Het |
Tas2r140 |
T |
C |
6: 133,032,207 (GRCm39) |
T184A |
possibly damaging |
Het |
Timm10b |
A |
G |
7: 105,332,013 (GRCm39) |
N828S |
probably benign |
Het |
Tmem161b |
T |
C |
13: 84,405,921 (GRCm39) |
I50T |
probably benign |
Het |
Tnpo3 |
T |
C |
6: 29,561,397 (GRCm39) |
N628D |
probably benign |
Het |
Tnrc6a |
A |
G |
7: 122,779,005 (GRCm39) |
T102A |
probably benign |
Het |
Vmn2r70 |
A |
T |
7: 85,208,787 (GRCm39) |
N563K |
probably damaging |
Het |
|
Other mutations in 9430097D07Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02214:9430097D07Rik
|
APN |
2 |
32,464,736 (GRCm39) |
unclassified |
probably benign |
|
R0356:9430097D07Rik
|
UTSW |
2 |
32,464,418 (GRCm39) |
unclassified |
probably benign |
|
R1776:9430097D07Rik
|
UTSW |
2 |
32,464,767 (GRCm39) |
unclassified |
probably benign |
|
R4886:9430097D07Rik
|
UTSW |
2 |
32,464,630 (GRCm39) |
unclassified |
probably benign |
|
R5010:9430097D07Rik
|
UTSW |
2 |
32,464,440 (GRCm39) |
unclassified |
probably benign |
|
R5613:9430097D07Rik
|
UTSW |
2 |
32,465,346 (GRCm39) |
unclassified |
probably benign |
|
R7059:9430097D07Rik
|
UTSW |
2 |
32,464,509 (GRCm39) |
unclassified |
probably benign |
|
R7919:9430097D07Rik
|
UTSW |
2 |
32,464,461 (GRCm39) |
missense |
unknown |
|
R7977:9430097D07Rik
|
UTSW |
2 |
32,464,317 (GRCm39) |
missense |
unknown |
|
R7987:9430097D07Rik
|
UTSW |
2 |
32,464,317 (GRCm39) |
missense |
unknown |
|
R9287:9430097D07Rik
|
UTSW |
2 |
32,465,178 (GRCm39) |
unclassified |
probably benign |
|
R9718:9430097D07Rik
|
UTSW |
2 |
32,465,247 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGTTCCTTCATCCTGATGGC -3'
(R):5'- TGATAGTCCCTAGCACGCAGAG -3'
Sequencing Primer
(F):5'- GGTAATGGATCCCTTTAATCCCGG -3'
(R):5'- CAGAGCCTTGGGACAGTG -3'
|
Posted On |
2015-08-18 |