Incidental Mutation 'R0677:A630073D07Rik'
| ID |
61677 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A630073D07Rik
|
| Ensembl Gene |
ENSMUSG00000067541 |
| Gene Name |
RIKEN cDNA A630073D07 gene |
| Synonyms |
LOC381819 |
| MMRRC Submission |
038862-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R0677 (G1)
|
| Quality Score |
118 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
132602074-132604474 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 132603520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 79
(Q79*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091791]
|
| AlphaFold |
E9PWS6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000091791
AA Change: Q79*
|
| SMART Domains |
Protein: ENSMUSP00000089395
Gene: ENSMUSG00000067541
AA Change: Q79*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro-rich
|
1 |
98 |
2.2e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205081
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol8 |
A |
C |
15: 77,634,051 (GRCm39) |
I175S |
probably damaging |
Het |
| BC004004 |
T |
C |
17: 29,517,638 (GRCm39) |
F284S |
probably damaging |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Dchs1 |
G |
A |
7: 105,414,191 (GRCm39) |
R875C |
probably damaging |
Het |
| Depdc5 |
A |
C |
5: 33,058,814 (GRCm39) |
N261T |
probably damaging |
Het |
| Flrt1 |
A |
T |
19: 7,073,544 (GRCm39) |
C334* |
probably null |
Het |
| Galnt5 |
T |
A |
2: 57,888,992 (GRCm39) |
Y197* |
probably null |
Het |
| Gp5 |
A |
G |
16: 30,127,193 (GRCm39) |
S494P |
probably benign |
Het |
| Ifnlr1 |
T |
A |
4: 135,432,945 (GRCm39) |
D460E |
possibly damaging |
Het |
| Mrgpra4 |
C |
T |
7: 47,630,728 (GRCm39) |
S291N |
probably benign |
Het |
| Msh4 |
G |
A |
3: 153,585,004 (GRCm39) |
P367S |
possibly damaging |
Het |
| Myct1 |
G |
T |
10: 5,554,261 (GRCm39) |
V43F |
probably benign |
Het |
| Ndst2 |
G |
A |
14: 20,779,647 (GRCm39) |
R198W |
probably benign |
Het |
| Ogdhl |
A |
T |
14: 32,061,882 (GRCm39) |
H500L |
probably damaging |
Het |
| Or52s1 |
C |
T |
7: 102,862,005 (GRCm39) |
R302* |
probably null |
Het |
| Or6c2b |
T |
A |
10: 128,947,947 (GRCm39) |
M116L |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,594,454 (GRCm39) |
G1220S |
probably benign |
Het |
| Slc26a4 |
A |
G |
12: 31,599,910 (GRCm39) |
|
probably null |
Het |
| Spata31g1 |
T |
A |
4: 42,970,952 (GRCm39) |
L59* |
probably null |
Het |
| Sytl1 |
A |
T |
4: 132,980,536 (GRCm39) |
C551S |
possibly damaging |
Het |
| Uri1 |
T |
C |
7: 37,664,925 (GRCm39) |
N256D |
probably benign |
Het |
| Vmn2r114 |
T |
G |
17: 23,529,568 (GRCm39) |
D178A |
probably damaging |
Het |
| Vmn2r23 |
C |
T |
6: 123,690,410 (GRCm39) |
L429F |
probably benign |
Het |
| Washc2 |
T |
C |
6: 116,221,577 (GRCm39) |
L685P |
probably damaging |
Het |
| Wipi2 |
A |
T |
5: 142,643,989 (GRCm39) |
I124F |
probably damaging |
Het |
|
| Other mutations in A630073D07Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01393:A630073D07Rik
|
APN |
6 |
132,603,577 (GRCm39) |
missense |
unknown |
|
|
R0617:A630073D07Rik
|
UTSW |
6 |
132,603,700 (GRCm39) |
splice site |
probably benign |
|
|
R1838:A630073D07Rik
|
UTSW |
6 |
132,603,690 (GRCm39) |
missense |
unknown |
|
|
R1868:A630073D07Rik
|
UTSW |
6 |
132,603,457 (GRCm39) |
missense |
unknown |
|
|
R1928:A630073D07Rik
|
UTSW |
6 |
132,603,564 (GRCm39) |
missense |
unknown |
|
|
R2362:A630073D07Rik
|
UTSW |
6 |
132,604,442 (GRCm39) |
start codon destroyed |
probably null |
|
|
R2697:A630073D07Rik
|
UTSW |
6 |
132,603,619 (GRCm39) |
missense |
unknown |
|
|
R3791:A630073D07Rik
|
UTSW |
6 |
132,603,479 (GRCm39) |
small deletion |
probably benign |
|
|
R5309:A630073D07Rik
|
UTSW |
6 |
132,603,540 (GRCm39) |
missense |
unknown |
|
|
R7361:A630073D07Rik
|
UTSW |
6 |
132,604,434 (GRCm39) |
missense |
unknown |
|
|
R8266:A630073D07Rik
|
UTSW |
6 |
132,604,380 (GRCm39) |
missense |
probably null |
|
|
RF003:A630073D07Rik
|
UTSW |
6 |
132,604,406 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGTTTATCAACTTGTTTCTGCTGTGC -3'
(R):5'- GCCACAATGGCCCATACTGTCTATAC -3'
Sequencing Primer
(F):5'- TGCATAGAATGATGAGGTAGGAAAG -3'
(R):5'- GTCACTCATCTAGACTATGCTAGACG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation