Incidental Mutation 'R6729:Rsph1'
| ID |
529992 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rsph1
|
| Ensembl Gene |
ENSMUSG00000024033 |
| Gene Name |
radial spoke head 1 homolog (Chlamydomonas) |
| Synonyms |
MCA, Tsga2, meichroacidin |
| MMRRC Submission |
044847-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6729 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
31473993-31496270 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31496226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 2
(S2P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024832]
|
| AlphaFold |
Q8VIG3 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000024832
AA Change: S2P
|
| SMART Domains |
Protein: ENSMUSP00000024832
Gene: ENSMUSG00000024033
AA Change: S2P
| Domain | Start | End | E-Value | Type |
|---|
|
MORN
|
18 |
40 |
3.63e1 |
SMART |
|
MORN
|
42 |
63 |
9.45e-6 |
SMART |
|
MORN
|
65 |
86 |
1.67e-6 |
SMART |
|
MORN
|
88 |
109 |
9.09e-8 |
SMART |
|
MORN
|
111 |
132 |
7.79e-7 |
SMART |
|
MORN
|
135 |
156 |
3.21e1 |
SMART |
|
Pfam:MORN
|
159 |
181 |
8e-5 |
PFAM |
|
low complexity region
|
227 |
242 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a male meiotic metaphase chromosome-associated acidic protein. This gene is expressed in tissues with motile cilia or flagella, including the trachea, lungs, airway brushings, and testes. Mutations in this gene result in primary ciliary dyskinesia-24. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit male infertility and azoospermia due to impaired spermatid formation, including deformation of the nucleus/head, acrosome, and flagellar mitochondrial sheath. Homozygous null females are fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad12 |
A |
T |
5: 121,745,998 (GRCm39) |
H230Q |
probably damaging |
Het |
| AI182371 |
G |
T |
2: 34,974,717 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,644,755 (GRCm39) |
V73A |
probably damaging |
Het |
| Apbb1 |
A |
T |
7: 105,214,588 (GRCm39) |
M28K |
probably damaging |
Het |
| Atp6v1f |
A |
G |
6: 29,467,964 (GRCm39) |
D50G |
probably benign |
Het |
| Bltp3b |
T |
A |
10: 89,641,546 (GRCm39) |
S906T |
probably benign |
Het |
| Cdkal1 |
G |
A |
13: 29,658,678 (GRCm39) |
T356M |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,711,727 (GRCm39) |
I756T |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,218,085 (GRCm39) |
|
probably null |
Het |
| Cyp17a1 |
A |
G |
19: 46,659,020 (GRCm39) |
V207A |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,711,681 (GRCm39) |
E2636G |
possibly damaging |
Het |
| Gm13090 |
A |
T |
4: 151,174,085 (GRCm39) |
|
probably benign |
Het |
| Nceh1 |
T |
A |
3: 27,295,420 (GRCm39) |
L227* |
probably null |
Het |
| Nedd9 |
A |
G |
13: 41,469,278 (GRCm39) |
M625T |
probably damaging |
Het |
| Or10n1 |
A |
T |
9: 39,525,069 (GRCm39) |
M69L |
probably benign |
Het |
| Or4d1 |
G |
A |
11: 87,805,676 (GRCm39) |
Q19* |
probably null |
Het |
| Or4d10c |
T |
A |
19: 12,065,860 (GRCm39) |
M99L |
probably benign |
Het |
| Or8b53 |
A |
G |
9: 38,667,124 (GRCm39) |
I47V |
probably benign |
Het |
| Pcsk4 |
T |
C |
10: 80,160,935 (GRCm39) |
N297S |
probably damaging |
Het |
| Psg21 |
T |
A |
7: 18,386,516 (GRCm39) |
I157F |
probably damaging |
Het |
| Rabep2 |
T |
C |
7: 126,039,369 (GRCm39) |
V294A |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,447,967 (GRCm39) |
K3338E |
probably damaging |
Het |
| Slc35f4 |
T |
G |
14: 49,556,417 (GRCm39) |
N112T |
probably benign |
Het |
| Slc43a3 |
T |
C |
2: 84,768,629 (GRCm39) |
F83L |
probably damaging |
Het |
| Slc6a15 |
T |
C |
10: 103,229,775 (GRCm39) |
V154A |
probably damaging |
Het |
| Synj2 |
T |
A |
17: 6,036,289 (GRCm39) |
M1K |
probably null |
Het |
| Tcp1 |
G |
A |
17: 13,142,140 (GRCm39) |
R378Q |
probably damaging |
Het |
| Tead2 |
A |
G |
7: 44,866,658 (GRCm39) |
T6A |
probably benign |
Het |
| Tpte |
G |
T |
8: 22,845,491 (GRCm39) |
V514L |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,807,661 (GRCm39) |
N1069D |
probably damaging |
Het |
| Vmn2r105 |
C |
A |
17: 20,428,605 (GRCm39) |
G824C |
probably damaging |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zfp934 |
A |
T |
13: 62,640,746 (GRCm39) |
N2K |
probably damaging |
Het |
|
| Other mutations in Rsph1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02156:Rsph1
|
APN |
17 |
31,477,090 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02729:Rsph1
|
APN |
17 |
31,492,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03380:Rsph1
|
APN |
17 |
31,496,210 (GRCm39) |
missense |
unknown |
|
|
R1493:Rsph1
|
UTSW |
17 |
31,484,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1714:Rsph1
|
UTSW |
17 |
31,474,190 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5319:Rsph1
|
UTSW |
17 |
31,492,351 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6172:Rsph1
|
UTSW |
17 |
31,492,392 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8167:Rsph1
|
UTSW |
17 |
31,496,260 (GRCm39) |
start gained |
probably benign |
|
|
R8807:Rsph1
|
UTSW |
17 |
31,484,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8824:Rsph1
|
UTSW |
17 |
31,492,350 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGGCGTTTCACCTTTCAAG -3'
(R):5'- TCCAGTTGCTAGGACACTATTC -3'
Sequencing Primer
(F):5'- TCAAGCGACTTCCTGGACTCAG -3'
(R):5'- AGTTGCTAGGACACTATTCCAGCTC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation