Incidental Mutation 'R1559:Rsph4a'
| ID |
170506 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rsph4a
|
| Ensembl Gene |
ENSMUSG00000039552 |
| Gene Name |
radial spoke head 4 homolog A (Chlamydomonas) |
| Synonyms |
Rshl3 |
| MMRRC Submission |
039598-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.289)
|
| Stock # |
R1559 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
33781107-33792017 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33785727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 546
(V546E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169670]
|
| AlphaFold |
Q8BYM7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118315
AA Change: V342E
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113543
Gene: ENSMUSG00000039552
AA Change: V342E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Radial_spoke
|
2 |
494 |
2.4e-193 |
PFAM |
|
low complexity region
|
498 |
512 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169670
AA Change: V546E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131647
Gene: ENSMUSG00000039552
AA Change: V546E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
80 |
87 |
N/A |
INTRINSIC |
|
Pfam:Radial_spoke
|
209 |
695 |
2.7e-205 |
PFAM |
|
low complexity region
|
702 |
716 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4299 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.0%
- 20x: 84.8%
|
| Validation Efficiency |
95% (73/77) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,349,180 (GRCm39) |
W3585R |
probably null |
Het |
| Ajm1 |
G |
T |
2: 25,467,043 (GRCm39) |
S956* |
probably null |
Het |
| Babam1 |
G |
C |
8: 71,850,424 (GRCm39) |
E18Q |
probably damaging |
Het |
| Bcan |
G |
T |
3: 87,901,519 (GRCm39) |
S394R |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,999,232 (GRCm39) |
F4653L |
probably damaging |
Het |
| Camsap2 |
A |
T |
1: 136,209,832 (GRCm39) |
H559Q |
probably benign |
Het |
| Cars2 |
G |
T |
8: 11,580,430 (GRCm39) |
|
probably null |
Het |
| Ccdc93 |
T |
A |
1: 121,389,712 (GRCm39) |
|
probably benign |
Het |
| Ccna2 |
C |
A |
3: 36,624,879 (GRCm39) |
|
probably benign |
Het |
| Cdc6 |
T |
A |
11: 98,803,037 (GRCm39) |
L326I |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,255,478 (GRCm39) |
|
probably benign |
Het |
| Cenpe |
T |
A |
3: 134,976,661 (GRCm39) |
S2423T |
probably benign |
Het |
| Cftr |
A |
G |
6: 18,225,936 (GRCm39) |
M295V |
probably benign |
Het |
| Cxcl2 |
A |
G |
5: 91,051,871 (GRCm39) |
H23R |
probably benign |
Het |
| Cyp4a12b |
A |
G |
4: 115,291,181 (GRCm39) |
T370A |
probably damaging |
Het |
| Daam2 |
A |
G |
17: 49,803,148 (GRCm39) |
|
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,298,276 (GRCm39) |
F607L |
probably damaging |
Het |
| Des |
T |
G |
1: 75,337,230 (GRCm39) |
S57A |
probably benign |
Het |
| Drd1 |
A |
T |
13: 54,206,964 (GRCm39) |
S410T |
probably damaging |
Het |
| Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
| Fanci |
T |
C |
7: 79,082,941 (GRCm39) |
L639P |
probably damaging |
Het |
| Fancm |
A |
G |
12: 65,140,463 (GRCm39) |
E395G |
probably benign |
Het |
| Grik3 |
A |
G |
4: 125,601,790 (GRCm39) |
D889G |
probably benign |
Het |
| Heyl |
A |
G |
4: 123,135,192 (GRCm39) |
S62G |
probably damaging |
Het |
| Hmox1 |
C |
T |
8: 75,826,577 (GRCm39) |
P267L |
probably damaging |
Het |
| Ifi213 |
A |
C |
1: 173,394,784 (GRCm39) |
S584A |
probably benign |
Het |
| Il12rb2 |
G |
T |
6: 67,333,576 (GRCm39) |
F234L |
probably benign |
Het |
| Il4i1 |
T |
A |
7: 44,488,811 (GRCm39) |
S233T |
probably damaging |
Het |
| Itga4 |
A |
G |
2: 79,146,032 (GRCm39) |
S745G |
probably benign |
Het |
| Kalrn |
T |
A |
16: 33,830,918 (GRCm39) |
I734F |
possibly damaging |
Het |
| Klk1b16 |
T |
C |
7: 43,790,425 (GRCm39) |
I200T |
probably benign |
Het |
| Lrrc4c |
T |
A |
2: 97,461,117 (GRCm39) |
M581K |
probably benign |
Het |
| M6pr |
A |
T |
6: 122,292,033 (GRCm39) |
I122L |
probably benign |
Het |
| Magi3 |
T |
C |
3: 103,954,169 (GRCm39) |
|
probably benign |
Het |
| Mybpc2 |
T |
G |
7: 44,163,111 (GRCm39) |
T480P |
probably benign |
Het |
| Or14c44 |
T |
C |
7: 86,061,575 (GRCm39) |
S43P |
probably benign |
Het |
| Or1j17 |
A |
G |
2: 36,578,770 (GRCm39) |
Y252C |
probably damaging |
Het |
| Or51ab3 |
A |
T |
7: 103,201,372 (GRCm39) |
I127F |
possibly damaging |
Het |
| Or8g23 |
T |
C |
9: 38,971,437 (GRCm39) |
N175S |
probably benign |
Het |
| Pcx |
T |
A |
19: 4,669,114 (GRCm39) |
I704N |
probably damaging |
Het |
| Pde3a |
G |
T |
6: 141,404,824 (GRCm39) |
A350S |
probably damaging |
Het |
| Ppox |
A |
T |
1: 171,107,580 (GRCm39) |
|
probably benign |
Het |
| Prb1a |
T |
A |
6: 132,185,507 (GRCm39) |
Y42F |
unknown |
Het |
| Saxo4 |
T |
C |
19: 10,458,770 (GRCm39) |
T87A |
probably benign |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Sh3tc1 |
A |
G |
5: 35,860,693 (GRCm39) |
|
probably null |
Het |
| Slc22a2 |
T |
C |
17: 12,803,298 (GRCm39) |
F44S |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,026,223 (GRCm39) |
D334V |
probably damaging |
Het |
| Smim19 |
T |
C |
8: 22,953,352 (GRCm39) |
D105G |
probably damaging |
Het |
| Smpdl3a |
A |
G |
10: 57,683,588 (GRCm39) |
T233A |
probably damaging |
Het |
| St8sia5 |
G |
A |
18: 77,299,460 (GRCm39) |
|
probably null |
Het |
| Stk32a |
C |
A |
18: 43,376,149 (GRCm39) |
Q73K |
probably benign |
Het |
| Tmem129 |
G |
T |
5: 33,815,100 (GRCm39) |
|
probably null |
Het |
| Traf3ip3 |
A |
T |
1: 192,860,599 (GRCm39) |
L441Q |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,731,305 (GRCm39) |
|
probably benign |
Het |
| Unc45b |
T |
C |
11: 82,808,672 (GRCm39) |
S253P |
possibly damaging |
Het |
| Vars2 |
A |
G |
17: 35,977,150 (GRCm39) |
|
probably benign |
Het |
| Vmn2r51 |
C |
T |
7: 9,836,372 (GRCm39) |
M136I |
possibly damaging |
Het |
| Vmn2r51 |
A |
G |
7: 9,836,373 (GRCm39) |
M136T |
possibly damaging |
Het |
| Zfp595 |
T |
C |
13: 67,465,127 (GRCm39) |
I379V |
possibly damaging |
Het |
|
| Other mutations in Rsph4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Rsph4a
|
APN |
10 |
33,790,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00536:Rsph4a
|
APN |
10 |
33,787,652 (GRCm39) |
splice site |
probably benign |
|
|
IGL00702:Rsph4a
|
APN |
10 |
33,789,068 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02313:Rsph4a
|
APN |
10 |
33,781,521 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02556:Rsph4a
|
APN |
10 |
33,781,148 (GRCm39) |
utr 5 prime |
probably benign |
|
|
PIT4519001:Rsph4a
|
UTSW |
10 |
33,785,126 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0006:Rsph4a
|
UTSW |
10 |
33,785,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0006:Rsph4a
|
UTSW |
10 |
33,785,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0088:Rsph4a
|
UTSW |
10 |
33,785,349 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0513:Rsph4a
|
UTSW |
10 |
33,788,987 (GRCm39) |
nonsense |
probably null |
|
|
R1589:Rsph4a
|
UTSW |
10 |
33,781,525 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1783:Rsph4a
|
UTSW |
10 |
33,787,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1914:Rsph4a
|
UTSW |
10 |
33,789,068 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2046:Rsph4a
|
UTSW |
10 |
33,790,539 (GRCm39) |
unclassified |
probably benign |
|
|
R2280:Rsph4a
|
UTSW |
10 |
33,787,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2496:Rsph4a
|
UTSW |
10 |
33,784,094 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3084:Rsph4a
|
UTSW |
10 |
33,785,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3086:Rsph4a
|
UTSW |
10 |
33,785,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4519:Rsph4a
|
UTSW |
10 |
33,787,623 (GRCm39) |
nonsense |
probably null |
|
|
R4965:Rsph4a
|
UTSW |
10 |
33,785,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5077:Rsph4a
|
UTSW |
10 |
33,784,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5264:Rsph4a
|
UTSW |
10 |
33,785,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5359:Rsph4a
|
UTSW |
10 |
33,784,232 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5464:Rsph4a
|
UTSW |
10 |
33,785,337 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5615:Rsph4a
|
UTSW |
10 |
33,785,324 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5751:Rsph4a
|
UTSW |
10 |
33,781,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5763:Rsph4a
|
UTSW |
10 |
33,781,684 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5832:Rsph4a
|
UTSW |
10 |
33,785,498 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6243:Rsph4a
|
UTSW |
10 |
33,785,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6654:Rsph4a
|
UTSW |
10 |
33,788,988 (GRCm39) |
missense |
probably benign |
|
|
R6918:Rsph4a
|
UTSW |
10 |
33,781,272 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7081:Rsph4a
|
UTSW |
10 |
33,785,189 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7453:Rsph4a
|
UTSW |
10 |
33,785,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7611:Rsph4a
|
UTSW |
10 |
33,781,473 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7670:Rsph4a
|
UTSW |
10 |
33,785,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8017:Rsph4a
|
UTSW |
10 |
33,785,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8495:Rsph4a
|
UTSW |
10 |
33,781,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8806:Rsph4a
|
UTSW |
10 |
33,785,445 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8884:Rsph4a
|
UTSW |
10 |
33,781,840 (GRCm39) |
splice site |
probably benign |
|
|
R9171:Rsph4a
|
UTSW |
10 |
33,785,438 (GRCm39) |
nonsense |
probably null |
|
|
R9269:Rsph4a
|
UTSW |
10 |
33,785,394 (GRCm39) |
missense |
probably benign |
|
|
R9392:Rsph4a
|
UTSW |
10 |
33,781,236 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9483:Rsph4a
|
UTSW |
10 |
33,790,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0057:Rsph4a
|
UTSW |
10 |
33,781,723 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
X0066:Rsph4a
|
UTSW |
10 |
33,789,005 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:Rsph4a
|
UTSW |
10 |
33,787,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTTCAGCAGGGACCCATGTCAG -3'
(R):5'- TCTACCTGTGATGGAGGAGTGTAGC -3'
Sequencing Primer
(F):5'- AGGGACCCATGTCAGTCCTC -3'
(R):5'- ATAAAGGTAGTCCTGCTCTCACTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation