Incidental Mutation 'R1406:Or10z1'
| ID |
188723 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or10z1
|
| Ensembl Gene |
ENSMUSG00000050788 |
| Gene Name |
olfactory receptor family 10 subfamily Z member 1 |
| Synonyms |
MOR267-6, Olfr419, GA_x6K02T2P20D-20891507-20892448 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R1406 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
174077455-174078542 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 174078427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 22
(E22V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149512
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027817]
[ENSMUST00000061990]
[ENSMUST00000214725]
|
| AlphaFold |
E9Q0Y7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027817
|
| SMART Domains |
Protein: ENSMUSP00000027817
Gene: ENSMUSG00000026532
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
55 |
153 |
3.62e-11 |
SMART |
|
SPEC
|
159 |
259 |
1.84e-26 |
SMART |
|
SPEC
|
265 |
365 |
1.56e-24 |
SMART |
|
SPEC
|
371 |
471 |
8.35e-25 |
SMART |
|
SPEC
|
477 |
577 |
1.19e-29 |
SMART |
|
SPEC
|
583 |
682 |
2.43e-26 |
SMART |
|
SPEC
|
688 |
788 |
1.3e-26 |
SMART |
|
SPEC
|
794 |
894 |
1.66e-28 |
SMART |
|
SPEC
|
900 |
1077 |
5.03e-19 |
SMART |
|
SH3
|
978 |
1033 |
2.98e-15 |
SMART |
|
SPEC
|
1083 |
1178 |
2.57e-16 |
SMART |
|
SPEC
|
1184 |
1284 |
1.15e-27 |
SMART |
|
SPEC
|
1290 |
1390 |
7.05e-23 |
SMART |
|
SPEC
|
1396 |
1495 |
6.04e-22 |
SMART |
|
SPEC
|
1501 |
1602 |
1.15e-27 |
SMART |
|
SPEC
|
1608 |
1708 |
5.46e-29 |
SMART |
|
SPEC
|
1714 |
1814 |
1.08e-32 |
SMART |
|
SPEC
|
1820 |
1921 |
2.17e-23 |
SMART |
|
SPEC
|
1927 |
2028 |
2.19e-19 |
SMART |
|
SPEC
|
2042 |
2142 |
3.87e-11 |
SMART |
|
SPEC
|
2156 |
2253 |
9.77e-8 |
SMART |
|
low complexity region
|
2307 |
2318 |
N/A |
INTRINSIC |
|
efhand_Ca_insen
|
2346 |
2414 |
2.37e-27 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061990
AA Change: E22V
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000050893
Gene: ENSMUSG00000050788
AA Change: E22V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
1.4e-53 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
3.2e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156092
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214725
AA Change: E22V
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
T |
C |
14: 78,750,189 (GRCm39) |
T733A |
probably benign |
Het |
| Antxrl |
A |
G |
14: 33,794,999 (GRCm39) |
N476D |
possibly damaging |
Het |
| Armc8 |
G |
T |
9: 99,405,301 (GRCm39) |
P268Q |
probably benign |
Het |
| Asb8 |
C |
A |
15: 98,034,304 (GRCm39) |
G84C |
probably damaging |
Het |
| BC035044 |
A |
T |
6: 128,862,047 (GRCm39) |
|
probably null |
Het |
| Caprin1 |
A |
G |
2: 103,606,332 (GRCm39) |
F303L |
probably benign |
Het |
| Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
| Ctdspl2 |
G |
A |
2: 121,837,349 (GRCm39) |
R371Q |
probably damaging |
Het |
| Dctn4 |
T |
A |
18: 60,689,402 (GRCm39) |
D431E |
probably benign |
Het |
| Dhx40 |
T |
C |
11: 86,688,571 (GRCm39) |
E284G |
probably benign |
Het |
| Dhx9 |
A |
G |
1: 153,340,684 (GRCm39) |
V652A |
probably damaging |
Het |
| Fnip2 |
G |
T |
3: 79,415,398 (GRCm39) |
N213K |
possibly damaging |
Het |
| Itch |
A |
G |
2: 155,048,274 (GRCm39) |
E546G |
possibly damaging |
Het |
| Map3k20 |
A |
T |
2: 72,219,838 (GRCm39) |
I257F |
probably damaging |
Het |
| Mdc1 |
C |
T |
17: 36,164,424 (GRCm39) |
T1324I |
probably benign |
Het |
| Mertk |
T |
C |
2: 128,613,406 (GRCm39) |
I474T |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,719,495 (GRCm39) |
V156A |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,944,702 (GRCm39) |
V554A |
probably benign |
Het |
| Or13c7c |
C |
T |
4: 43,835,582 (GRCm39) |
V303M |
possibly damaging |
Het |
| Or4f57 |
A |
G |
2: 111,790,926 (GRCm39) |
V164A |
probably benign |
Het |
| Pask |
A |
G |
1: 93,249,373 (GRCm39) |
Y676H |
probably benign |
Het |
| Pcare |
T |
C |
17: 72,056,156 (GRCm39) |
N1174D |
probably benign |
Het |
| Plpp2 |
G |
A |
10: 79,366,611 (GRCm39) |
|
probably benign |
Het |
| Rab32 |
A |
G |
10: 10,426,637 (GRCm39) |
V103A |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,422,144 (GRCm39) |
E262G |
possibly damaging |
Het |
| Rtn4 |
A |
G |
11: 29,658,236 (GRCm39) |
T797A |
probably benign |
Het |
| Sall1 |
A |
T |
8: 89,759,072 (GRCm39) |
I344K |
probably benign |
Het |
| Scnn1b |
T |
C |
7: 121,501,767 (GRCm39) |
|
probably null |
Het |
| Sik3 |
G |
T |
9: 46,034,643 (GRCm39) |
|
probably benign |
Het |
| Slc7a2 |
G |
T |
8: 41,358,622 (GRCm39) |
G322W |
probably damaging |
Het |
| Snx29 |
A |
G |
16: 11,217,657 (GRCm39) |
M153V |
probably benign |
Het |
| Stk25 |
A |
G |
1: 93,552,875 (GRCm39) |
|
probably benign |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Ush1c |
A |
C |
7: 45,874,965 (GRCm39) |
|
probably null |
Het |
| Vmn2r8 |
C |
T |
5: 108,950,234 (GRCm39) |
M204I |
probably benign |
Het |
| Zfp839 |
C |
T |
12: 110,832,744 (GRCm39) |
T554M |
probably damaging |
Het |
|
| Other mutations in Or10z1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01133:Or10z1
|
APN |
1 |
174,078,092 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01765:Or10z1
|
APN |
1 |
174,077,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02718:Or10z1
|
APN |
1 |
174,078,273 (GRCm39) |
nonsense |
probably null |
|
|
IGL03208:Or10z1
|
APN |
1 |
174,077,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB009:Or10z1
|
UTSW |
1 |
174,078,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB019:Or10z1
|
UTSW |
1 |
174,078,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1406:Or10z1
|
UTSW |
1 |
174,078,427 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1760:Or10z1
|
UTSW |
1 |
174,077,926 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2138:Or10z1
|
UTSW |
1 |
174,078,302 (GRCm39) |
splice site |
probably null |
|
|
R2139:Or10z1
|
UTSW |
1 |
174,078,302 (GRCm39) |
splice site |
probably null |
|
|
R2869:Or10z1
|
UTSW |
1 |
174,078,092 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2869:Or10z1
|
UTSW |
1 |
174,078,092 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2871:Or10z1
|
UTSW |
1 |
174,078,092 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2871:Or10z1
|
UTSW |
1 |
174,078,092 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2872:Or10z1
|
UTSW |
1 |
174,078,092 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2872:Or10z1
|
UTSW |
1 |
174,078,092 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2873:Or10z1
|
UTSW |
1 |
174,078,092 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2874:Or10z1
|
UTSW |
1 |
174,078,092 (GRCm39) |
missense |
probably benign |
0.41 |
|
R3854:Or10z1
|
UTSW |
1 |
174,077,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4614:Or10z1
|
UTSW |
1 |
174,078,188 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4858:Or10z1
|
UTSW |
1 |
174,078,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5015:Or10z1
|
UTSW |
1 |
174,078,448 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5138:Or10z1
|
UTSW |
1 |
174,078,395 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5296:Or10z1
|
UTSW |
1 |
174,078,322 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5369:Or10z1
|
UTSW |
1 |
174,078,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6285:Or10z1
|
UTSW |
1 |
174,078,395 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7655:Or10z1
|
UTSW |
1 |
174,077,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7656:Or10z1
|
UTSW |
1 |
174,077,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7753:Or10z1
|
UTSW |
1 |
174,078,236 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7932:Or10z1
|
UTSW |
1 |
174,078,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8179:Or10z1
|
UTSW |
1 |
174,078,130 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9336:Or10z1
|
UTSW |
1 |
174,077,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9758:Or10z1
|
UTSW |
1 |
174,077,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCATAAAGGAGATGGCTTGTCCC -3'
(R):5'- GTCAAAAGCAGCACACATTCTCTGAAG -3'
Sequencing Primer
(F):5'- AGAGAGCATCCTTGGGATGATTC -3'
(R):5'- GCAGACTAAATCAGACATTCTTTGTG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation