Incidental Mutation 'R6642:6820408C15Rik'
| ID |
525833 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
6820408C15Rik
|
| Ensembl Gene |
ENSMUSG00000032680 |
| Gene Name |
RIKEN cDNA 6820408C15 gene |
| Synonyms |
|
| MMRRC Submission |
044763-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R6642 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
152257507-152286250 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 152282790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 215
(V215D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039961]
[ENSMUST00000128737]
[ENSMUST00000153713]
|
| AlphaFold |
Q8BJX2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039961
AA Change: V215D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037024
Gene: ENSMUSG00000032680
AA Change: V215D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4618
|
96 |
353 |
4.1e-105 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128737
|
| SMART Domains |
Protein: ENSMUSP00000117627
Gene: ENSMUSG00000032680
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4618
|
97 |
158 |
1.4e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153713
|
| SMART Domains |
Protein: ENSMUSP00000120724
Gene: ENSMUSG00000032680
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
G |
19: 57,119,284 (GRCm39) |
S267P |
probably benign |
Het |
| Adcy2 |
C |
T |
13: 68,768,945 (GRCm39) |
C1061Y |
probably damaging |
Het |
| Aip |
C |
A |
19: 4,165,149 (GRCm39) |
C240F |
probably damaging |
Het |
| Aldh1a2 |
A |
T |
9: 71,160,268 (GRCm39) |
D98V |
probably damaging |
Het |
| Arhgef40 |
T |
C |
14: 52,228,419 (GRCm39) |
|
probably benign |
Het |
| Cplx2 |
G |
T |
13: 54,526,736 (GRCm39) |
R48L |
probably damaging |
Het |
| Ctrl |
C |
T |
8: 106,659,451 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,353,006 (GRCm39) |
T2720A |
probably benign |
Het |
| Fzd1 |
A |
G |
5: 4,805,696 (GRCm39) |
Y629H |
probably damaging |
Het |
| Gins1 |
T |
C |
2: 150,770,038 (GRCm39) |
|
probably null |
Het |
| Gpr149 |
C |
T |
3: 62,437,995 (GRCm39) |
A721T |
probably damaging |
Het |
| Helb |
A |
T |
10: 119,920,835 (GRCm39) |
M1036K |
probably benign |
Het |
| Il16 |
A |
G |
7: 83,337,335 (GRCm39) |
F127L |
probably benign |
Het |
| Kctd20 |
A |
T |
17: 29,180,640 (GRCm39) |
H138L |
probably damaging |
Het |
| Kctd9 |
T |
A |
14: 67,962,122 (GRCm39) |
L55* |
probably null |
Het |
| Marf1 |
C |
T |
16: 13,950,611 (GRCm39) |
R925H |
probably benign |
Het |
| Mbip |
A |
T |
12: 56,389,191 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nod1 |
T |
G |
6: 54,925,014 (GRCm39) |
D99A |
probably damaging |
Het |
| Olfm4 |
A |
G |
14: 80,259,107 (GRCm39) |
K419E |
probably damaging |
Het |
| Or6c214 |
A |
T |
10: 129,591,232 (GRCm39) |
L29Q |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,521,845 (GRCm39) |
D137G |
probably benign |
Het |
| Prdm4 |
T |
C |
10: 85,743,682 (GRCm39) |
E191G |
probably benign |
Het |
| Rassf10 |
A |
T |
7: 112,554,784 (GRCm39) |
T462S |
probably benign |
Het |
| Rundc3b |
A |
T |
5: 8,629,071 (GRCm39) |
I110N |
probably damaging |
Het |
| Sgsm3 |
C |
T |
15: 80,893,901 (GRCm39) |
R479C |
probably damaging |
Het |
| Tmc7 |
A |
T |
7: 118,144,834 (GRCm39) |
Y575* |
probably null |
Het |
| Trim33 |
T |
C |
3: 103,244,830 (GRCm39) |
L310S |
probably damaging |
Het |
| Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,565,740 (GRCm39) |
E28204G |
probably damaging |
Het |
| Vmn1r233 |
A |
T |
17: 21,214,002 (GRCm39) |
L316Q |
probably damaging |
Het |
| Vmn2r110 |
A |
T |
17: 20,803,779 (GRCm39) |
N265K |
possibly damaging |
Het |
| Xylb |
A |
G |
9: 119,196,559 (GRCm39) |
H114R |
probably damaging |
Het |
| Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
|
| Other mutations in 6820408C15Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01335:6820408C15Rik
|
APN |
2 |
152,284,307 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01986:6820408C15Rik
|
APN |
2 |
152,282,956 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02153:6820408C15Rik
|
APN |
2 |
152,283,161 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02178:6820408C15Rik
|
APN |
2 |
152,269,921 (GRCm39) |
splice site |
probably benign |
|
|
IGL03339:6820408C15Rik
|
APN |
2 |
152,284,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0468:6820408C15Rik
|
UTSW |
2 |
152,283,186 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1624:6820408C15Rik
|
UTSW |
2 |
152,276,031 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1642:6820408C15Rik
|
UTSW |
2 |
152,282,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2420:6820408C15Rik
|
UTSW |
2 |
152,270,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3109:6820408C15Rik
|
UTSW |
2 |
152,284,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3153:6820408C15Rik
|
UTSW |
2 |
152,282,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3154:6820408C15Rik
|
UTSW |
2 |
152,282,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3875:6820408C15Rik
|
UTSW |
2 |
152,276,000 (GRCm39) |
missense |
probably benign |
|
|
R4237:6820408C15Rik
|
UTSW |
2 |
152,270,873 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4746:6820408C15Rik
|
UTSW |
2 |
152,282,685 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4957:6820408C15Rik
|
UTSW |
2 |
152,286,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4959:6820408C15Rik
|
UTSW |
2 |
152,282,808 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4973:6820408C15Rik
|
UTSW |
2 |
152,282,808 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5261:6820408C15Rik
|
UTSW |
2 |
152,282,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5399:6820408C15Rik
|
UTSW |
2 |
152,282,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5971:6820408C15Rik
|
UTSW |
2 |
152,282,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6138:6820408C15Rik
|
UTSW |
2 |
152,282,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6223:6820408C15Rik
|
UTSW |
2 |
152,269,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6379:6820408C15Rik
|
UTSW |
2 |
152,269,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6815:6820408C15Rik
|
UTSW |
2 |
152,282,975 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8083:6820408C15Rik
|
UTSW |
2 |
152,282,987 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8367:6820408C15Rik
|
UTSW |
2 |
152,284,417 (GRCm39) |
splice site |
probably null |
|
|
R8534:6820408C15Rik
|
UTSW |
2 |
152,283,182 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9567:6820408C15Rik
|
UTSW |
2 |
152,270,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
U15987:6820408C15Rik
|
UTSW |
2 |
152,282,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCACCTCCTAACTCATGTGGG -3'
(R):5'- AGGATGGTTTCCCGCATCTC -3'
Sequencing Primer
(F):5'- CTCCTGGAAAGGTTCTCTGAAAG -3'
(R):5'- GCATCTCGCTAAGGTTGTCCAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation