Incidental Mutation 'K7894:Rsph10b'
| ID |
26516 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rsph10b
|
| Ensembl Gene |
ENSMUSG00000075569 |
| Gene Name |
radial spoke head 10 homolog B (Chlamydomonas) |
| Synonyms |
4930526H21Rik, Rsph10b2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
K7894 ()
of strain
468
|
| Quality Score |
222 |
|
Status
|
Validated
(trace)
|
| Chromosome |
5 |
| Chromosomal Location |
143869853-143922537 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143881338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 151
(D151G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166847]
[ENSMUST00000169758]
|
| AlphaFold |
E9PYQ0 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000031618
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166847
AA Change: D151G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132687
Gene: ENSMUSG00000075569
AA Change: D151G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
75 |
N/A |
INTRINSIC |
|
MORN
|
107 |
128 |
5.9e-7 |
SMART |
|
MORN
|
130 |
151 |
9.35e-1 |
SMART |
|
MORN
|
153 |
174 |
1.23e0 |
SMART |
|
MORN
|
177 |
198 |
1.84e0 |
SMART |
|
MORN
|
202 |
223 |
3.21e1 |
SMART |
|
MORN
|
225 |
246 |
1.67e-6 |
SMART |
|
MORN
|
249 |
270 |
1.85e1 |
SMART |
|
MORN
|
282 |
303 |
2.71e-6 |
SMART |
|
MORN
|
305 |
326 |
3.53e-5 |
SMART |
|
low complexity region
|
409 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
649 |
N/A |
INTRINSIC |
|
coiled coil region
|
787 |
841 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167009
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169758
AA Change: D151G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127770
Gene: ENSMUSG00000075569
AA Change: D151G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
75 |
N/A |
INTRINSIC |
|
Blast:MORN
|
84 |
105 |
7e-6 |
BLAST |
|
MORN
|
107 |
128 |
5.9e-7 |
SMART |
|
MORN
|
130 |
151 |
9.35e-1 |
SMART |
|
MORN
|
153 |
174 |
1.23e0 |
SMART |
|
Pfam:MORN
|
179 |
191 |
2.3e-2 |
PFAM |
|
| Meta Mutation Damage Score |
0.3673 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 95.4%
|
| Validation Efficiency |
88% (22/25) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
C |
CAA |
3: 121,941,517 (GRCm39) |
|
probably null |
Het |
| Acsl4 |
C |
T |
X: 141,111,056 (GRCm39) |
V632I |
probably benign |
Het |
| Adcy8 |
T |
C |
15: 64,694,083 (GRCm39) |
H398R |
probably benign |
Het |
| Catsperg1 |
C |
T |
7: 28,896,579 (GRCm39) |
|
probably benign |
Het |
| Ccpg1 |
T |
C |
9: 72,909,159 (GRCm39) |
|
probably null |
Het |
| Clk4 |
G |
T |
11: 51,166,593 (GRCm39) |
|
probably benign |
Het |
| Ehbp1 |
C |
T |
11: 22,039,683 (GRCm39) |
|
probably benign |
Het |
| Eri2 |
T |
C |
7: 119,384,494 (GRCm39) |
D669G |
probably benign |
Het |
| Nlrp9c |
A |
G |
7: 26,084,323 (GRCm39) |
S419P |
possibly damaging |
Het |
| Or52h7 |
A |
G |
7: 104,213,739 (GRCm39) |
T104A |
probably benign |
Het |
| Pde8a |
C |
A |
7: 80,956,513 (GRCm39) |
P304H |
probably damaging |
Het |
| Prmt3 |
A |
G |
7: 49,476,459 (GRCm39) |
Y356C |
probably damaging |
Het |
| Spryd3 |
A |
G |
15: 102,026,576 (GRCm39) |
V365A |
probably benign |
Het |
| Vmn1r58 |
T |
C |
7: 5,413,702 (GRCm39) |
N176S |
probably benign |
Het |
|
| Other mutations in Rsph10b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00419:Rsph10b
|
APN |
5 |
143,873,905 (GRCm39) |
makesense |
probably null |
|
|
R0136:Rsph10b
|
UTSW |
5 |
143,896,639 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0149:Rsph10b
|
UTSW |
5 |
143,875,727 (GRCm39) |
unclassified |
probably benign |
|
|
R0326:Rsph10b
|
UTSW |
5 |
143,903,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0558:Rsph10b
|
UTSW |
5 |
143,886,156 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1185:Rsph10b
|
UTSW |
5 |
143,903,280 (GRCm39) |
splice site |
probably benign |
|
|
R1185:Rsph10b
|
UTSW |
5 |
143,903,280 (GRCm39) |
splice site |
probably benign |
|
|
R1712:Rsph10b
|
UTSW |
5 |
143,873,967 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1832:Rsph10b
|
UTSW |
5 |
143,903,997 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1909:Rsph10b
|
UTSW |
5 |
143,922,309 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2044:Rsph10b
|
UTSW |
5 |
143,904,068 (GRCm39) |
splice site |
probably null |
|
|
R2155:Rsph10b
|
UTSW |
5 |
143,898,074 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2842:Rsph10b
|
UTSW |
5 |
143,916,710 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3805:Rsph10b
|
UTSW |
5 |
143,895,206 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4031:Rsph10b
|
UTSW |
5 |
143,922,486 (GRCm39) |
splice site |
probably null |
|
|
R4792:Rsph10b
|
UTSW |
5 |
143,874,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4866:Rsph10b
|
UTSW |
5 |
143,885,347 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6090:Rsph10b
|
UTSW |
5 |
143,913,946 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6252:Rsph10b
|
UTSW |
5 |
143,873,939 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6255:Rsph10b
|
UTSW |
5 |
143,896,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6518:Rsph10b
|
UTSW |
5 |
143,900,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7085:Rsph10b
|
UTSW |
5 |
143,886,102 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7206:Rsph10b
|
UTSW |
5 |
143,898,010 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7337:Rsph10b
|
UTSW |
5 |
143,898,033 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7353:Rsph10b
|
UTSW |
5 |
143,904,038 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7567:Rsph10b
|
UTSW |
5 |
143,886,244 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8022:Rsph10b
|
UTSW |
5 |
143,904,050 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8109:Rsph10b
|
UTSW |
5 |
143,922,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8275:Rsph10b
|
UTSW |
5 |
143,903,323 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8679:Rsph10b
|
UTSW |
5 |
143,887,112 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8947:Rsph10b
|
UTSW |
5 |
143,913,952 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9020:Rsph10b
|
UTSW |
5 |
143,922,283 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9189:Rsph10b
|
UTSW |
5 |
143,896,504 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9319:Rsph10b
|
UTSW |
5 |
143,903,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Rsph10b
|
UTSW |
5 |
143,913,952 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCATGGTGTAAATGAAACCTTCCCAG -3'
(R):5'- TGTAAATCCACATACACAGTGGGCAG -3'
Sequencing Primer
(F):5'- TCCGTGCTGTGGAAGAAC -3'
(R):5'- gaggttggataatgatgatggttg -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation