Incidental Mutation 'R4500:2310034C09Rik'
| ID |
331793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2310034C09Rik
|
| Ensembl Gene |
ENSMUSG00000068078 |
| Gene Name |
RIKEN cDNA 2310034C09 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R4500 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
88555735-88556677 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 88556429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 214
(C214*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089111]
|
| AlphaFold |
Q9D746 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000089111
AA Change: C214*
|
| SMART Domains |
Protein: ENSMUSP00000140130
Gene: ENSMUSG00000068078
AA Change: C214*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMG
|
1 |
87 |
7.7e-29 |
PFAM |
|
Pfam:Keratin_B2_2
|
54 |
104 |
1.4e-7 |
PFAM |
|
Pfam:PMG
|
84 |
209 |
1.3e-43 |
PFAM |
|
Pfam:Keratin_B2_2
|
85 |
139 |
3.9e-5 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3s1 |
T |
C |
18: 46,923,067 (GRCm39) |
V186A |
possibly damaging |
Het |
| Dennd4a |
G |
A |
9: 64,817,405 (GRCm39) |
D1680N |
possibly damaging |
Het |
| Dpep2 |
T |
C |
8: 106,712,114 (GRCm39) |
E282G |
probably benign |
Het |
| Duxf4 |
C |
T |
10: 58,071,528 (GRCm39) |
A229T |
possibly damaging |
Het |
| Fam83d |
A |
G |
2: 158,627,187 (GRCm39) |
E292G |
probably benign |
Het |
| Hook1 |
T |
C |
4: 95,881,437 (GRCm39) |
|
probably null |
Het |
| Iqca1l |
T |
C |
5: 24,753,275 (GRCm39) |
D459G |
possibly damaging |
Het |
| Klhl18 |
C |
T |
9: 110,259,034 (GRCm39) |
G445S |
probably damaging |
Het |
| Or14a257 |
A |
T |
7: 86,138,127 (GRCm39) |
C211S |
probably benign |
Het |
| Or51a43 |
A |
G |
7: 103,717,402 (GRCm39) |
S279P |
probably damaging |
Het |
| Pias3 |
C |
T |
3: 96,608,734 (GRCm39) |
R259W |
probably damaging |
Het |
| Prr11 |
T |
G |
11: 86,989,533 (GRCm39) |
K279N |
possibly damaging |
Het |
| Sugp1 |
T |
C |
8: 70,509,038 (GRCm39) |
S104P |
probably benign |
Het |
| Tmem239 |
A |
G |
2: 130,249,077 (GRCm39) |
Y145C |
possibly damaging |
Het |
| Uchl4 |
T |
C |
9: 64,143,163 (GRCm39) |
F215L |
possibly damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Usp7 |
C |
T |
16: 8,513,759 (GRCm39) |
E785K |
possibly damaging |
Het |
| Vmn2r66 |
G |
A |
7: 84,657,162 (GRCm39) |
A81V |
probably damaging |
Het |
|
| Other mutations in 2310034C09Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R2143:2310034C09Rik
|
UTSW |
16 |
88,556,053 (GRCm39) |
missense |
probably benign |
|
|
R5539:2310034C09Rik
|
UTSW |
16 |
88,555,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5559:2310034C09Rik
|
UTSW |
16 |
88,555,981 (GRCm39) |
missense |
unknown |
|
|
R5604:2310034C09Rik
|
UTSW |
16 |
88,556,278 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6000:2310034C09Rik
|
UTSW |
16 |
88,556,427 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6641:2310034C09Rik
|
UTSW |
16 |
88,555,974 (GRCm39) |
missense |
unknown |
|
|
R7199:2310034C09Rik
|
UTSW |
16 |
88,555,902 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7436:2310034C09Rik
|
UTSW |
16 |
88,556,242 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7596:2310034C09Rik
|
UTSW |
16 |
88,556,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7682:2310034C09Rik
|
UTSW |
16 |
88,556,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7947:2310034C09Rik
|
UTSW |
16 |
88,555,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8049:2310034C09Rik
|
UTSW |
16 |
88,555,992 (GRCm39) |
missense |
probably benign |
|
|
R8337:2310034C09Rik
|
UTSW |
16 |
88,556,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8434:2310034C09Rik
|
UTSW |
16 |
88,556,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGAAGCTGCTACTCAGTGGGG -3'
(R):5'- CAGATTGCACAAGTTTATTGGATGG -3'
Sequencing Primer
(F):5'- GTATGGAAATAGTGGCTTCAGACCC -3'
(R):5'- CAATTTTCAAATGACCTTGGGTTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation