Incidental Mutation 'R8096:Rsph14'
| ID |
630204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rsph14
|
| Ensembl Gene |
ENSMUSG00000009070 |
| Gene Name |
radial spoke head homolog 14 (Chlamydomonas) |
| Synonyms |
4933431K05Rik, Rtdr1 |
| MMRRC Submission |
067528-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R8096 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
74793309-74868418 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 74795493 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 231
(I231F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136715
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009214]
[ENSMUST00000160072]
[ENSMUST00000160450]
[ENSMUST00000166088]
[ENSMUST00000179546]
|
| AlphaFold |
Q9D3W1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009214
AA Change: I231F
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000009214
Gene: ENSMUSG00000009070
AA Change: I231F
| 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 |
possibly damaging
Transcript: ENSMUST00000166088
AA Change: I264F
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000131632
Gene: ENSMUSG00000009070
AA Change: I264F
| 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: I231F
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000136715
Gene: ENSMUSG00000009070
AA Change: I231F
| 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 |
|
| Meta Mutation Damage Score |
0.3078 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.1%
- 20x: 97.3%
|
| Validation Efficiency |
98% (44/45) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
G |
A |
14: 54,882,726 (GRCm39) |
A999V |
possibly damaging |
Het |
| Actn4 |
A |
G |
7: 28,594,008 (GRCm39) |
I833T |
possibly damaging |
Het |
| Actn4 |
C |
A |
7: 28,601,338 (GRCm39) |
R470L |
probably damaging |
Het |
| Adgre4 |
T |
A |
17: 56,127,700 (GRCm39) |
I580N |
probably damaging |
Het |
| Arid5b |
T |
A |
10: 68,021,982 (GRCm39) |
T203S |
probably benign |
Het |
| Astn1 |
A |
G |
1: 158,436,890 (GRCm39) |
Y824C |
probably damaging |
Het |
| Cacna2d3 |
A |
G |
14: 28,825,657 (GRCm39) |
V506A |
possibly damaging |
Het |
| Cdk17 |
T |
G |
10: 93,052,229 (GRCm39) |
M103R |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,455,446 (GRCm39) |
E449V |
probably damaging |
Het |
| Cux2 |
A |
G |
5: 122,007,160 (GRCm39) |
Y834H |
possibly damaging |
Het |
| Dynlrb2 |
A |
G |
8: 117,234,256 (GRCm39) |
T7A |
possibly damaging |
Het |
| Ggcx |
G |
A |
6: 72,406,976 (GRCm39) |
R704Q |
probably benign |
Het |
| Gpr87 |
A |
T |
3: 59,087,229 (GRCm39) |
L92Q |
possibly damaging |
Het |
| Grik1 |
C |
T |
16: 87,803,355 (GRCm39) |
G279E |
|
Het |
| Igsf10 |
G |
T |
3: 59,236,380 (GRCm39) |
T1267N |
probably damaging |
Het |
| Mrc2 |
G |
T |
11: 105,234,333 (GRCm39) |
R951L |
probably damaging |
Het |
| Muc4 |
T |
A |
16: 32,575,764 (GRCm39) |
S1755T |
unknown |
Het |
| Muc5b |
T |
C |
7: 141,403,292 (GRCm39) |
V751A |
unknown |
Het |
| Or10a3 |
A |
T |
7: 108,480,248 (GRCm39) |
C188* |
probably null |
Het |
| Or1l4 |
T |
A |
2: 37,092,078 (GRCm39) |
V275E |
probably damaging |
Het |
| Or8u9 |
T |
A |
2: 86,002,056 (GRCm39) |
Y35F |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,762,975 (GRCm39) |
Y531C |
|
Het |
| Pigr |
A |
G |
1: 130,774,247 (GRCm39) |
E409G |
probably damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,708,626 (GRCm39) |
S4812P |
unknown |
Het |
| Scgb2b24 |
T |
A |
7: 33,438,646 (GRCm39) |
|
probably null |
Het |
| Scn2a |
T |
A |
2: 65,594,366 (GRCm39) |
H1738Q |
probably damaging |
Het |
| Scrib |
A |
T |
15: 75,934,558 (GRCm39) |
D678E |
probably benign |
Het |
| Slc39a8 |
T |
C |
3: 135,590,417 (GRCm39) |
F370S |
probably damaging |
Het |
| Sphkap |
A |
T |
1: 83,255,279 (GRCm39) |
D823E |
probably damaging |
Het |
| Srrm3 |
T |
A |
5: 135,898,094 (GRCm39) |
I555N |
unknown |
Het |
| Stx19 |
A |
C |
16: 62,642,524 (GRCm39) |
E113D |
possibly damaging |
Het |
| Tex30 |
A |
T |
1: 44,127,663 (GRCm39) |
Y91N |
probably damaging |
Het |
| Tnfsf13 |
A |
G |
11: 69,575,983 (GRCm39) |
C35R |
probably damaging |
Het |
| Tnik |
G |
A |
3: 28,715,927 (GRCm39) |
M1180I |
possibly damaging |
Het |
| Tnn |
C |
T |
1: 159,950,411 (GRCm39) |
A732T |
probably damaging |
Het |
| Tpra1 |
C |
T |
6: 88,888,699 (GRCm39) |
Q294* |
probably null |
Het |
| Trim24 |
G |
T |
6: 37,935,592 (GRCm39) |
S895I |
probably benign |
Het |
| Trim68 |
A |
G |
7: 102,327,649 (GRCm39) |
S435P |
probably damaging |
Het |
| Vrtn |
C |
T |
12: 84,696,809 (GRCm39) |
R520C |
probably damaging |
Het |
| Zfp280d |
T |
C |
9: 72,226,560 (GRCm39) |
C335R |
probably damaging |
Het |
| Zfp958 |
G |
T |
8: 4,663,273 (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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGCTCACTGTGGCTGCAG -3'
(R):5'- CAGCAAGATATTCCCCATGCTG -3'
Sequencing Primer
(F):5'- TCACTGTGGCTGCAGACAAG -3'
(R):5'- AAGATATTCCCCATGCTGGTGTTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation