Incidental Mutation 'IGL00419:Rsph10b'
| ID |
332374 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00419
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
143869853-143922537 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to C
at 143873905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Arginine
at position 166
(*166R)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000148011]
[ENSMUST00000166847]
[ENSMUST00000169758]
|
| AlphaFold |
E9PYQ0 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000031618
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141942
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148011
|
| SMART Domains |
Protein: ENSMUSP00000119875
Gene: ENSMUSG00000079109
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
30 |
165 |
3.77e-1 |
SMART |
|
DNA_mis_repair
|
227 |
364 |
4.76e-41 |
SMART |
|
MutL_C
|
675 |
819 |
1.59e-36 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166847
AA Change: V2A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000132687
Gene: ENSMUSG00000075569
AA Change: V2A
| 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 |
possibly damaging
Transcript: ENSMUST00000169758
AA Change: V2A
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127770
Gene: ENSMUSG00000075569
AA Change: V2A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170083
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000172367
AA Change: *166R
|
| SMART Domains |
Protein: ENSMUSP00000132104
Gene: ENSMUSG00000104633
AA Change: *166R
| Domain | Start | End | E-Value | Type |
|---|
|
MutL_C
|
5 |
139 |
1.78e-1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp1a4 |
A |
C |
1: 172,067,373 (GRCm39) |
N586K |
probably damaging |
Het |
| AU040320 |
T |
C |
4: 126,686,027 (GRCm39) |
M201T |
probably benign |
Het |
| Bcap29 |
A |
T |
12: 31,680,871 (GRCm39) |
F38L |
probably benign |
Het |
| Bdkrb2 |
A |
G |
12: 105,554,562 (GRCm39) |
|
probably benign |
Het |
| Ceacam5 |
G |
T |
7: 17,493,481 (GRCm39) |
E835* |
probably null |
Het |
| Cenpp |
T |
C |
13: 49,801,132 (GRCm39) |
|
probably null |
Het |
| Clca3a2 |
A |
G |
3: 144,804,574 (GRCm39) |
V51A |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,313,951 (GRCm39) |
N1660D |
probably damaging |
Het |
| Exosc9 |
T |
C |
3: 36,607,288 (GRCm39) |
|
probably benign |
Het |
| Ezh1 |
T |
C |
11: 101,085,332 (GRCm39) |
|
probably null |
Het |
| Fbxo24 |
G |
A |
5: 137,622,563 (GRCm39) |
R68C |
probably damaging |
Het |
| Gbp9 |
T |
C |
5: 105,241,943 (GRCm39) |
I205V |
probably benign |
Het |
| Gpc5 |
A |
G |
14: 115,607,436 (GRCm39) |
Y346C |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,810,818 (GRCm39) |
Y1706H |
probably damaging |
Het |
| Igsf9b |
A |
G |
9: 27,230,951 (GRCm39) |
Y318C |
probably damaging |
Het |
| Map1a |
A |
T |
2: 121,129,508 (GRCm39) |
Q182L |
probably damaging |
Het |
| Rab11fip3 |
A |
T |
17: 26,210,783 (GRCm39) |
|
probably benign |
Het |
| Rbm20 |
G |
A |
19: 53,831,695 (GRCm39) |
R643Q |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 51,967,150 (GRCm39) |
C1707S |
probably damaging |
Het |
| Rpgrip1l |
G |
T |
8: 91,990,202 (GRCm39) |
R747S |
possibly damaging |
Het |
| Sft2d1 |
G |
A |
17: 8,539,437 (GRCm39) |
C80Y |
possibly damaging |
Het |
| Zdhhc14 |
T |
C |
17: 5,802,959 (GRCm39) |
|
probably benign |
Het |
| Zfp300 |
T |
A |
X: 20,948,531 (GRCm39) |
Y411F |
probably damaging |
Het |
| Zfp92 |
T |
C |
X: 72,463,764 (GRCm39) |
|
probably benign |
Het |
| Zhx1 |
A |
G |
15: 57,916,711 (GRCm39) |
F512L |
probably damaging |
Het |
|
| Other mutations in Rsph10b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
K7894:Rsph10b
|
UTSW |
5 |
143,881,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-08-05 |
Incidental Mutation