Incidental Mutation 'IGL00952:Rsph14'
| ID |
28372 |
| 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 # |
IGL00952
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
74793309-74868418 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74865601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 112
(D112G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009214]
[ENSMUST00000159994]
[ENSMUST00000160072]
[ENSMUST00000160450]
[ENSMUST00000166088]
[ENSMUST00000179546]
|
| AlphaFold |
Q9D3W1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009214
AA Change: D79G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000009214
Gene: ENSMUSG00000009070
AA Change: D79G
| 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 |
noncoding transcript
Transcript: ENSMUST00000159761
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159994
AA Change: D79G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000125669
Gene: ENSMUSG00000009070
AA Change: D79G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HEAT_2
|
28 |
133 |
2.8e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160072
AA Change: D79G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000123760
Gene: ENSMUSG00000009070
AA Change: D79G
| 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: D79G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000125289
Gene: ENSMUSG00000009070
AA Change: D79G
| 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: D112G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000131632
Gene: ENSMUSG00000009070
AA Change: D112G
| 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: D79G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000136715
Gene: ENSMUSG00000009070
AA Change: D79G
| 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 |
noncoding transcript
Transcript: ENSMUST00000220411
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
T |
G |
6: 40,941,733 (GRCm39) |
I4S |
probably benign |
Het |
| Abca8b |
A |
G |
11: 109,859,886 (GRCm39) |
|
probably null |
Het |
| Aftph |
A |
T |
11: 20,677,483 (GRCm39) |
V42E |
probably damaging |
Het |
| AI467606 |
A |
G |
7: 126,691,874 (GRCm39) |
S150G |
probably damaging |
Het |
| Art4 |
T |
C |
6: 136,831,818 (GRCm39) |
N108D |
possibly damaging |
Het |
| B9d1 |
G |
A |
11: 61,403,504 (GRCm39) |
V167I |
possibly damaging |
Het |
| Ccdc47 |
A |
T |
11: 106,094,358 (GRCm39) |
|
probably null |
Het |
| Ccdc96 |
T |
A |
5: 36,642,424 (GRCm39) |
|
probably benign |
Het |
| Cfap44 |
A |
G |
16: 44,241,638 (GRCm39) |
I670V |
probably benign |
Het |
| Col18a1 |
T |
G |
10: 76,905,813 (GRCm39) |
K909Q |
possibly damaging |
Het |
| Col8a2 |
A |
G |
4: 126,203,584 (GRCm39) |
Y59C |
probably damaging |
Het |
| Coro6 |
A |
T |
11: 77,359,291 (GRCm39) |
D288V |
probably damaging |
Het |
| Cul4a |
C |
T |
8: 13,196,562 (GRCm39) |
L739F |
probably damaging |
Het |
| Dmxl2 |
C |
T |
9: 54,324,166 (GRCm39) |
V1073I |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,160,386 (GRCm39) |
T115A |
possibly damaging |
Het |
| Fdx2 |
A |
G |
9: 20,984,558 (GRCm39) |
|
probably null |
Het |
| Flnc |
C |
T |
6: 29,459,546 (GRCm39) |
Q2549* |
probably null |
Het |
| Foxn2 |
T |
C |
17: 88,783,308 (GRCm39) |
C188R |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Ilf3 |
T |
C |
9: 21,307,347 (GRCm39) |
L343P |
probably damaging |
Het |
| Itgb2l |
C |
T |
16: 96,227,950 (GRCm39) |
G518S |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,060,459 (GRCm39) |
I2486F |
probably damaging |
Het |
| Kat2a |
A |
G |
11: 100,596,977 (GRCm39) |
V681A |
probably damaging |
Het |
| Kif17 |
A |
G |
4: 137,990,019 (GRCm39) |
N69S |
possibly damaging |
Het |
| Kif26b |
G |
A |
1: 178,759,770 (GRCm39) |
D2106N |
probably damaging |
Het |
| Klf6 |
A |
G |
13: 5,911,680 (GRCm39) |
T15A |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,852,692 (GRCm39) |
T2231A |
probably benign |
Het |
| Mark4 |
T |
C |
7: 19,165,749 (GRCm39) |
T515A |
possibly damaging |
Het |
| Mast3 |
A |
T |
8: 71,233,327 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,586,201 (GRCm39) |
K722R |
probably benign |
Het |
| Ncf2 |
G |
A |
1: 152,711,857 (GRCm39) |
E524K |
probably benign |
Het |
| Or56a3b |
A |
G |
7: 104,771,614 (GRCm39) |
|
probably null |
Het |
| Or5p81 |
A |
G |
7: 108,267,445 (GRCm39) |
N274S |
possibly damaging |
Het |
| Or5w12 |
A |
T |
2: 87,502,159 (GRCm39) |
I184N |
probably damaging |
Het |
| Or8c17 |
A |
T |
9: 38,179,801 (GRCm39) |
|
probably benign |
Het |
| Plcg2 |
A |
T |
8: 118,333,956 (GRCm39) |
M910L |
probably benign |
Het |
| Pramel14 |
T |
C |
4: 143,719,894 (GRCm39) |
H157R |
probably benign |
Het |
| Rai1 |
A |
T |
11: 60,078,818 (GRCm39) |
K961* |
probably null |
Het |
| Sgo1 |
T |
A |
17: 53,994,275 (GRCm39) |
D59V |
probably damaging |
Het |
| Slc22a29 |
A |
T |
19: 8,195,221 (GRCm39) |
V138E |
probably damaging |
Het |
| Slc9a1 |
T |
A |
4: 133,143,693 (GRCm39) |
V393D |
probably damaging |
Het |
| Smg6 |
A |
G |
11: 74,819,974 (GRCm39) |
R82G |
probably benign |
Het |
| Sppl3 |
T |
C |
5: 115,212,935 (GRCm39) |
S55P |
probably benign |
Het |
| Srsf12 |
A |
C |
4: 33,226,103 (GRCm39) |
Q122P |
possibly damaging |
Het |
| Tas1r2 |
T |
C |
4: 139,382,563 (GRCm39) |
M67T |
probably benign |
Het |
| Thnsl1 |
G |
A |
2: 21,216,767 (GRCm39) |
V174I |
possibly damaging |
Het |
| Thumpd1 |
A |
G |
7: 119,316,232 (GRCm39) |
V239A |
possibly damaging |
Het |
| Tnxb |
T |
G |
17: 34,932,102 (GRCm39) |
Y2212D |
probably damaging |
Het |
| Trim40 |
T |
C |
17: 37,193,289 (GRCm39) |
*213W |
probably null |
Het |
| Ttc16 |
T |
C |
2: 32,660,259 (GRCm39) |
D183G |
probably damaging |
Het |
|
| Other mutations in Rsph14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation