Incidental Mutation 'R8374:Rsph14'
ID |
646582 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rsph14
|
Ensembl Gene |
ENSMUSG00000009070 |
Gene Name |
radial spoke head homolog 14 (Chlamydomonas) |
Synonyms |
4933431K05Rik, Rtdr1 |
MMRRC Submission |
067742-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R8374 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
74793309-74868418 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 74797481 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 169
(I169V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136715
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009214]
[ENSMUST00000160072]
[ENSMUST00000160450]
[ENSMUST00000166088]
[ENSMUST00000179546]
|
AlphaFold |
Q9D3W1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000009214
AA Change: I169V
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000009214 Gene: ENSMUSG00000009070 AA Change: I169V
Domain | Start | End | E-Value | Type |
Pfam:HEAT_2
|
28 |
133 |
9.9e-8 |
PFAM |
ARM
|
138 |
178 |
3.18e1 |
SMART |
ARM
|
218 |
258 |
1.88e0 |
SMART |
ARM
|
259 |
300 |
3.32e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160072
|
SMART Domains |
Protein: ENSMUSP00000123760 Gene: ENSMUSG00000009070
Domain | Start | End | E-Value | Type |
Pfam:HEAT_2
|
28 |
133 |
1.6e-8 |
PFAM |
Blast:ARM
|
138 |
161 |
2e-7 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160450
AA Change: I169V
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000125289 Gene: ENSMUSG00000009070 AA Change: I169V
Domain | Start | End | E-Value | Type |
Pfam:HEAT_2
|
28 |
133 |
4.1e-8 |
PFAM |
Blast:ARM
|
138 |
178 |
3e-19 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166088
AA Change: I202V
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000131632 Gene: ENSMUSG00000009070 AA Change: I202V
Domain | Start | End | E-Value | Type |
Blast:ARM
|
48 |
88 |
1e-7 |
BLAST |
Blast:ARM
|
89 |
129 |
3e-16 |
BLAST |
ARM
|
171 |
211 |
3.18e1 |
SMART |
ARM
|
251 |
291 |
1.88e0 |
SMART |
ARM
|
292 |
333 |
3.32e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179546
AA Change: I169V
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000136715 Gene: ENSMUSG00000009070 AA Change: I169V
Domain | Start | End | E-Value | Type |
Pfam:HEAT_2
|
28 |
133 |
9.9e-8 |
PFAM |
ARM
|
138 |
178 |
3.18e1 |
SMART |
ARM
|
218 |
258 |
1.88e0 |
SMART |
ARM
|
259 |
300 |
3.32e-1 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with no known function but with slight similarity to a yeast vacuolar protein. The gene is located in a region deleted in pediatric rhabdoid tumors of the brain, kidney and soft tissues, but mutations in this gene have not been associated with the disease. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts15 |
C |
T |
9: 30,814,002 (GRCm39) |
G721E |
probably benign |
Het |
Aip |
A |
T |
19: 4,165,456 (GRCm39) |
M170K |
probably damaging |
Het |
Alms1 |
T |
C |
6: 85,585,973 (GRCm39) |
I276T |
probably benign |
Het |
Arid1b |
C |
T |
17: 5,392,919 (GRCm39) |
P2097S |
possibly damaging |
Het |
Astn1 |
T |
G |
1: 158,329,803 (GRCm39) |
N219K |
probably damaging |
Het |
Cbx2 |
G |
T |
11: 118,918,969 (GRCm39) |
R178L |
probably damaging |
Het |
Clptm1 |
G |
A |
7: 19,372,081 (GRCm39) |
P252S |
probably benign |
Het |
Crebbp |
A |
G |
16: 3,902,175 (GRCm39) |
S2355P |
probably damaging |
Het |
D130043K22Rik |
C |
A |
13: 25,041,962 (GRCm39) |
T297K |
probably benign |
Het |
Ddx60 |
A |
G |
8: 62,427,205 (GRCm39) |
D760G |
probably benign |
Het |
Dgka |
T |
C |
10: 128,557,112 (GRCm39) |
N621S |
probably benign |
Het |
Ear10 |
A |
T |
14: 44,160,645 (GRCm39) |
C61S |
probably damaging |
Het |
F12 |
A |
T |
13: 55,569,144 (GRCm39) |
C238S |
probably damaging |
Het |
Fen1 |
A |
G |
19: 10,177,824 (GRCm39) |
F207L |
probably benign |
Het |
Fzr1 |
A |
G |
10: 81,203,368 (GRCm39) |
L486P |
probably damaging |
Het |
Gdnf |
A |
G |
15: 7,864,176 (GRCm39) |
R196G |
probably benign |
Het |
Gldc |
A |
C |
19: 30,114,594 (GRCm39) |
F439V |
probably damaging |
Het |
Gm3138 |
T |
C |
14: 4,251,688 (GRCm38) |
M120T |
probably damaging |
Het |
Gpi1 |
G |
A |
7: 33,920,082 (GRCm39) |
A197V |
probably benign |
Het |
Ighv1-4 |
T |
A |
12: 114,450,899 (GRCm39) |
I70F |
probably benign |
Het |
Il19 |
A |
T |
1: 130,866,893 (GRCm39) |
L29Q |
probably damaging |
Het |
Kank1 |
A |
T |
19: 25,389,005 (GRCm39) |
I893F |
probably damaging |
Het |
Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
Kif13b |
T |
C |
14: 65,025,884 (GRCm39) |
S1414P |
probably damaging |
Het |
Miga2 |
AAGAG |
AAG |
2: 30,265,755 (GRCm39) |
|
probably null |
Het |
Mosmo |
T |
A |
7: 120,329,715 (GRCm39) |
M112K |
probably benign |
Het |
Ntmt2 |
A |
T |
1: 163,530,617 (GRCm39) |
M274K |
probably damaging |
Het |
Or2d2b |
A |
G |
7: 106,706,033 (GRCm39) |
F12L |
probably damaging |
Het |
Or2h1b |
C |
A |
17: 37,462,636 (GRCm39) |
V76F |
probably damaging |
Het |
Or2w3b |
T |
A |
11: 58,623,724 (GRCm39) |
D89V |
probably damaging |
Het |
Pak6 |
G |
A |
2: 118,524,477 (GRCm39) |
V497I |
probably benign |
Het |
Ppargc1b |
G |
A |
18: 61,443,564 (GRCm39) |
S549F |
probably damaging |
Het |
Rassf8 |
T |
A |
6: 145,760,863 (GRCm39) |
L63* |
probably null |
Het |
Rptn |
G |
T |
3: 93,303,602 (GRCm39) |
G312* |
probably null |
Het |
Sltm |
A |
G |
9: 70,469,227 (GRCm39) |
D162G |
probably null |
Het |
Tatdn1 |
C |
T |
15: 58,788,000 (GRCm39) |
|
probably null |
Het |
Tbx4 |
A |
C |
11: 85,805,102 (GRCm39) |
E397A |
probably benign |
Het |
Tdrd12 |
T |
C |
7: 35,177,486 (GRCm39) |
D956G |
unknown |
Het |
Tnr |
G |
A |
1: 159,685,953 (GRCm39) |
V395I |
probably benign |
Het |
Ugt1a2 |
A |
T |
1: 88,129,107 (GRCm39) |
H250L |
possibly damaging |
Het |
Vmn1r173 |
C |
T |
7: 23,401,920 (GRCm39) |
H52Y |
probably damaging |
Het |
Vps11 |
T |
C |
9: 44,267,706 (GRCm39) |
D302G |
probably benign |
Het |
Zfp398 |
T |
C |
6: 47,836,468 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Rsph14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00952:Rsph14
|
APN |
10 |
74,865,601 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01735:Rsph14
|
APN |
10 |
74,860,992 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01809:Rsph14
|
APN |
10 |
74,793,618 (GRCm39) |
splice site |
probably benign |
|
IGL02534:Rsph14
|
APN |
10 |
74,793,466 (GRCm39) |
missense |
probably damaging |
0.97 |
R1215:Rsph14
|
UTSW |
10 |
74,860,898 (GRCm39) |
missense |
probably benign |
0.27 |
R2060:Rsph14
|
UTSW |
10 |
74,865,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R2163:Rsph14
|
UTSW |
10 |
74,793,611 (GRCm39) |
missense |
probably damaging |
1.00 |
R3777:Rsph14
|
UTSW |
10 |
74,793,420 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3777:Rsph14
|
UTSW |
10 |
74,793,419 (GRCm39) |
missense |
possibly damaging |
0.87 |
R3778:Rsph14
|
UTSW |
10 |
74,793,420 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3778:Rsph14
|
UTSW |
10 |
74,793,419 (GRCm39) |
missense |
possibly damaging |
0.87 |
R3844:Rsph14
|
UTSW |
10 |
74,867,107 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5787:Rsph14
|
UTSW |
10 |
74,793,460 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6044:Rsph14
|
UTSW |
10 |
74,867,102 (GRCm39) |
missense |
probably benign |
0.44 |
R6232:Rsph14
|
UTSW |
10 |
74,797,520 (GRCm39) |
missense |
probably benign |
0.00 |
R7401:Rsph14
|
UTSW |
10 |
74,865,628 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7701:Rsph14
|
UTSW |
10 |
74,793,608 (GRCm39) |
nonsense |
probably null |
|
R8096:Rsph14
|
UTSW |
10 |
74,795,493 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8725:Rsph14
|
UTSW |
10 |
74,795,516 (GRCm39) |
missense |
probably benign |
0.04 |
R9027:Rsph14
|
UTSW |
10 |
74,795,423 (GRCm39) |
missense |
probably damaging |
1.00 |
X0023:Rsph14
|
UTSW |
10 |
74,797,553 (GRCm39) |
missense |
probably benign |
0.10 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAAACTCAGGAGGTGGCTC -3'
(R):5'- CAGGGATCGTTTTCTCAGGTCTAG -3'
Sequencing Primer
(F):5'- TCCTCGAGCCAACACAGAG -3'
(R):5'- AGACTCACTGCATCTGTGATC -3'
|
Posted On |
2020-09-02 |