Incidental Mutation 'R1339:Or6k8-ps1'
ID |
156954 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or6k8-ps1
|
Ensembl Gene |
ENSMUSG00000091950 |
Gene Name |
olfactory receptor family 6 subfamily K member 8, pseudogene 1 |
Synonyms |
Olfr421, Olfr422-ps1, GA_x6K02T2P20D-21002372-21001425, Olfr421-ps1, GA_x6K02T2P20D-21006310-21006124, MOR105-3 |
MMRRC Submission |
039404-MU
|
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
R1339 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
173979047-173980096 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 173979777 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Cysteine
at position 232
(G232C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136689
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179386]
[ENSMUST00000213748]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171570
AA Change: G232C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129926 Gene: ENSMUSG00000091950 AA Change: G232C
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
31 |
266 |
1.4e-52 |
PFAM |
Pfam:7tm_1
|
41 |
264 |
1.6e-20 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000179386
AA Change: G232C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136689 Gene: ENSMUSG00000091950 AA Change: G232C
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
38 |
N/A |
INTRINSIC |
Pfam:7tm_1
|
41 |
288 |
5.6e-29 |
PFAM |
Pfam:7tm_4
|
139 |
285 |
4.7e-31 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213748
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
Adamts20 |
A |
T |
15: 94,220,777 (GRCm39) |
N1385K |
probably benign |
Het |
Cplane2 |
A |
G |
4: 140,945,859 (GRCm39) |
E134G |
probably damaging |
Het |
Cyp4a32 |
A |
G |
4: 115,468,760 (GRCm39) |
Y382C |
probably damaging |
Het |
Dtnbp1 |
G |
A |
13: 45,076,696 (GRCm39) |
S237L |
probably damaging |
Het |
Foxi1 |
T |
C |
11: 34,155,866 (GRCm39) |
T255A |
probably benign |
Het |
Ifi208 |
A |
C |
1: 173,510,804 (GRCm39) |
T320P |
probably damaging |
Het |
Inhbc |
C |
A |
10: 127,193,510 (GRCm39) |
V169L |
probably benign |
Het |
Irf7 |
G |
A |
7: 140,843,617 (GRCm39) |
R320C |
probably damaging |
Het |
Marchf6 |
T |
C |
15: 31,486,548 (GRCm39) |
T336A |
probably benign |
Het |
Masp1 |
C |
A |
16: 23,271,217 (GRCm39) |
C677F |
probably damaging |
Het |
Mei1 |
A |
G |
15: 81,966,196 (GRCm39) |
R323G |
possibly damaging |
Het |
Or2a7 |
G |
C |
6: 43,151,544 (GRCm39) |
G208A |
probably benign |
Het |
Pira13 |
A |
G |
7: 3,825,155 (GRCm39) |
Y496H |
probably damaging |
Het |
Rel |
C |
T |
11: 23,695,763 (GRCm39) |
C208Y |
probably damaging |
Het |
Shc2 |
T |
G |
10: 79,462,250 (GRCm39) |
T298P |
probably benign |
Het |
Syne1 |
G |
A |
10: 5,317,571 (GRCm39) |
L508F |
probably damaging |
Het |
Ubn1 |
A |
G |
16: 4,873,199 (GRCm39) |
K74E |
probably damaging |
Het |
|
Other mutations in Or6k8-ps1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01994:Or6k8-ps1
|
APN |
1 |
173,979,102 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03000:Or6k8-ps1
|
APN |
1 |
173,979,126 (GRCm39) |
missense |
probably benign |
0.00 |
R0529:Or6k8-ps1
|
UTSW |
1 |
173,979,696 (GRCm39) |
missense |
probably benign |
0.01 |
R0574:Or6k8-ps1
|
UTSW |
1 |
173,979,132 (GRCm39) |
missense |
probably benign |
0.13 |
R1658:Or6k8-ps1
|
UTSW |
1 |
173,979,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R1822:Or6k8-ps1
|
UTSW |
1 |
173,979,780 (GRCm39) |
missense |
probably benign |
0.20 |
R1991:Or6k8-ps1
|
UTSW |
1 |
173,979,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R2391:Or6k8-ps1
|
UTSW |
1 |
173,979,664 (GRCm39) |
missense |
probably benign |
0.10 |
R4299:Or6k8-ps1
|
UTSW |
1 |
173,979,878 (GRCm39) |
nonsense |
probably null |
|
R4688:Or6k8-ps1
|
UTSW |
1 |
173,979,162 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5241:Or6k8-ps1
|
UTSW |
1 |
173,979,667 (GRCm39) |
missense |
probably benign |
0.02 |
R5421:Or6k8-ps1
|
UTSW |
1 |
173,979,861 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTGGCCCCAATCAAATCACTCAGATA -3'
(R):5'- TGCAGTCATTCTTCAGCATCAGGTTTT -3'
Sequencing Primer
(F):5'- CACTCAGATATTCTGTGATTTCACC -3'
(R):5'- CATGTCCTTATTTCTCAGGCTG -3'
|
Posted On |
2014-02-11 |