Incidental Mutation 'IGL02534:Rsph14'
| ID |
297417 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rsph14
|
| Ensembl Gene |
ENSMUSG00000009070 |
| Gene Name |
radial spoke head homolog 14 (Chlamydomonas) |
| Synonyms |
4933431K05Rik, Rtdr1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL02534
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
74793309-74868418 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 74793466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 345
(V345F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009214]
[ENSMUST00000160072]
[ENSMUST00000160450]
[ENSMUST00000166088]
[ENSMUST00000179546]
|
| AlphaFold |
Q9D3W1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009214
AA Change: V312F
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000009214
Gene: ENSMUSG00000009070
AA Change: V312F
| 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
|
| SMART Domains |
Protein: ENSMUSP00000125289
Gene: ENSMUSG00000009070
| 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 damaging
Transcript: ENSMUST00000166088
AA Change: V345F
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000131632
Gene: ENSMUSG00000009070
AA Change: V345F
| 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 |
possibly damaging
Transcript: ENSMUST00000179546
AA Change: V312F
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000136715
Gene: ENSMUSG00000009070
AA Change: V312F
| 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 |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aggf1 |
C |
T |
13: 95,506,030 (GRCm39) |
E186K |
possibly damaging |
Het |
| Ajm1 |
G |
T |
2: 25,467,043 (GRCm39) |
S956* |
probably null |
Het |
| Anks1b |
A |
G |
10: 90,730,979 (GRCm39) |
I932V |
probably benign |
Het |
| Atg2b |
A |
G |
12: 105,609,526 (GRCm39) |
Y1361H |
probably damaging |
Het |
| Bcl9 |
G |
T |
3: 97,122,545 (GRCm39) |
L85M |
probably damaging |
Het |
| Bcl9l |
T |
G |
9: 44,417,036 (GRCm39) |
S291R |
probably benign |
Het |
| Cpa2 |
T |
A |
6: 30,550,767 (GRCm39) |
D201E |
probably benign |
Het |
| Efna5 |
A |
T |
17: 62,920,384 (GRCm39) |
C164* |
probably null |
Het |
| Fhip2b |
A |
T |
14: 70,823,128 (GRCm39) |
H642Q |
probably damaging |
Het |
| Fhip2b |
T |
A |
14: 70,823,630 (GRCm39) |
H580L |
probably benign |
Het |
| Gm6316 |
A |
G |
12: 69,967,763 (GRCm39) |
|
probably benign |
Het |
| Gucy2g |
A |
G |
19: 55,229,500 (GRCm39) |
S57P |
probably damaging |
Het |
| Inf2 |
C |
A |
12: 112,576,930 (GRCm39) |
A968E |
unknown |
Het |
| Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
| Mcm5 |
T |
A |
8: 75,840,861 (GRCm39) |
V222E |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,398,456 (GRCm39) |
Y287C |
unknown |
Het |
| Or12e9 |
T |
G |
2: 87,202,598 (GRCm39) |
S241A |
probably benign |
Het |
| Or13a24 |
A |
T |
7: 140,154,554 (GRCm39) |
M163L |
probably benign |
Het |
| Or14c39 |
G |
A |
7: 86,343,939 (GRCm39) |
V92M |
probably benign |
Het |
| Or8u10 |
A |
G |
2: 85,915,713 (GRCm39) |
M136T |
probably damaging |
Het |
| Pabpc1l |
A |
G |
2: 163,869,410 (GRCm39) |
D70G |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
| Ppp1r17 |
C |
A |
6: 56,003,445 (GRCm39) |
S86* |
probably null |
Het |
| Rasd1 |
A |
G |
11: 59,855,615 (GRCm39) |
M6T |
possibly damaging |
Het |
| Slc11a2 |
T |
A |
15: 100,299,207 (GRCm39) |
Q121L |
probably benign |
Het |
| Smc5 |
A |
T |
19: 23,205,536 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
T |
C |
11: 105,725,994 (GRCm39) |
L386P |
probably damaging |
Het |
| Tmem9b |
A |
T |
7: 109,336,164 (GRCm39) |
L160Q |
probably damaging |
Het |
| Trim32 |
A |
G |
4: 65,532,906 (GRCm39) |
T488A |
possibly damaging |
Het |
| Tubb1 |
A |
G |
2: 174,297,462 (GRCm39) |
I24V |
probably benign |
Het |
| Upf1 |
A |
T |
8: 70,788,302 (GRCm39) |
|
probably null |
Het |
| Zfp263 |
T |
A |
16: 3,564,279 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
R8374:Rsph14
|
UTSW |
10 |
74,797,481 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation