Incidental Mutation 'R6252:Rsph10b'
| ID |
506279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rsph10b
|
| Ensembl Gene |
ENSMUSG00000075569 |
| Gene Name |
radial spoke head 10 homolog B (Chlamydomonas) |
| Synonyms |
4930526H21Rik, Rsph10b2 |
| MMRRC Submission |
044369-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R6252 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
143869853-143922537 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 143873939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 13
(D13E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132687
(fasta)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000166847
AA Change: D13E
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132687
Gene: ENSMUSG00000075569
AA Change: D13E
| 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 benign
Transcript: ENSMUST00000169758
AA Change: D13E
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127770
Gene: ENSMUSG00000075569
AA Change: D13E
| 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 benign
Transcript: ENSMUST00000172367
|
| SMART Domains |
Protein: ENSMUSP00000132104
Gene: ENSMUSG00000104633
| Domain | Start | End | E-Value | Type |
|---|
|
MutL_C
|
5 |
139 |
1.78e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,122,305 (GRCm39) |
I393V |
probably benign |
Het |
| Agl |
C |
T |
3: 116,580,878 (GRCm39) |
|
probably null |
Het |
| Ankrd11 |
T |
C |
8: 123,620,561 (GRCm39) |
E1097G |
possibly damaging |
Het |
| Aoc1 |
A |
G |
6: 48,883,015 (GRCm39) |
H297R |
probably benign |
Het |
| AW146154 |
G |
A |
7: 41,130,811 (GRCm39) |
P102S |
probably benign |
Het |
| Cap1 |
A |
G |
4: 122,766,193 (GRCm39) |
V15A |
probably benign |
Het |
| Cavin2 |
A |
G |
1: 51,328,828 (GRCm39) |
N95S |
probably benign |
Het |
| Col11a2 |
T |
A |
17: 34,261,186 (GRCm39) |
D45E |
probably null |
Het |
| Col8a1 |
A |
G |
16: 57,447,368 (GRCm39) |
V714A |
unknown |
Het |
| Crispld1 |
A |
G |
1: 17,819,731 (GRCm39) |
E243G |
probably benign |
Het |
| Daam1 |
G |
A |
12: 72,035,723 (GRCm39) |
G964R |
probably damaging |
Het |
| Elapor2 |
T |
C |
5: 9,460,693 (GRCm39) |
Y205H |
probably damaging |
Het |
| Epg5 |
T |
C |
18: 78,028,382 (GRCm39) |
F1308L |
probably damaging |
Het |
| Eqtn |
A |
T |
4: 94,796,006 (GRCm39) |
S232T |
probably damaging |
Het |
| Esyt1 |
T |
C |
10: 128,347,771 (GRCm39) |
E973G |
probably benign |
Het |
| Fbxl13 |
T |
A |
5: 21,826,499 (GRCm39) |
M96L |
possibly damaging |
Het |
| Frem2 |
A |
T |
3: 53,479,869 (GRCm39) |
F1941L |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,259,995 (GRCm39) |
V1050A |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,446,664 (GRCm39) |
H721R |
probably damaging |
Het |
| Idh1 |
T |
G |
1: 65,207,690 (GRCm39) |
Q163P |
probably benign |
Het |
| Kctd15 |
A |
G |
7: 34,341,348 (GRCm39) |
V193A |
probably benign |
Het |
| Npas3 |
A |
G |
12: 54,115,673 (GRCm39) |
Y834C |
probably damaging |
Het |
| Opn4 |
C |
T |
14: 34,316,788 (GRCm39) |
V334I |
probably benign |
Het |
| Or10w3 |
A |
T |
19: 13,704,419 (GRCm39) |
S265C |
probably damaging |
Het |
| Pappa |
A |
G |
4: 65,107,649 (GRCm39) |
M687V |
probably benign |
Het |
| Pcdhgc5 |
T |
C |
18: 37,954,583 (GRCm39) |
F619S |
probably damaging |
Het |
| Pdlim2 |
G |
T |
14: 70,405,137 (GRCm39) |
Q243K |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,800,200 (GRCm39) |
L2987P |
probably damaging |
Het |
| Plcz1 |
A |
G |
6: 139,953,329 (GRCm39) |
|
probably null |
Het |
| Prpf6 |
C |
T |
2: 181,289,156 (GRCm39) |
A615V |
probably damaging |
Het |
| Pwp1 |
T |
C |
10: 85,710,373 (GRCm39) |
V5A |
probably benign |
Het |
| Slc44a3 |
T |
A |
3: 121,307,386 (GRCm39) |
D200V |
probably damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,119,588 (GRCm39) |
Q4474R |
probably benign |
Het |
| St7l |
T |
C |
3: 104,826,819 (GRCm39) |
|
probably null |
Het |
| Stc2 |
T |
A |
11: 31,310,346 (GRCm39) |
D230V |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 76,016,210 (GRCm39) |
T3264K |
probably benign |
Het |
| Trp73 |
C |
A |
4: 154,148,854 (GRCm39) |
D252Y |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,737,376 (GRCm39) |
D1056G |
probably benign |
Het |
| Vcan |
C |
T |
13: 89,839,339 (GRCm39) |
W1108* |
probably null |
Het |
| Zfp772 |
G |
T |
7: 7,207,018 (GRCm39) |
S224R |
possibly damaging |
Het |
| Zfp804b |
A |
T |
5: 6,819,478 (GRCm39) |
V1159E |
probably damaging |
Het |
| Zfp981 |
T |
G |
4: 146,621,970 (GRCm39) |
S298R |
probably benign |
Het |
| Zmat3 |
A |
G |
3: 32,395,770 (GRCm39) |
F246L |
possibly damaging |
Het |
| Zranb1 |
A |
G |
7: 132,585,633 (GRCm39) |
T720A |
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 |
|
|
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 |
|
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'- TTACTCGGGCTTCAGTAGGATG -3'
(R):5'- GGCTCTTCGTACTGAGTCTC -3'
Sequencing Primer
(F):5'- ACTCGGGCTTCAGTAGGATGATAATG -3'
(R):5'- GTACTGAGTCTCCTCTTCACTCTG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation