Incidental Mutation 'IGL02903:Rsbn1'
| ID |
363695 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rsbn1
|
| Ensembl Gene |
ENSMUSG00000044098 |
| Gene Name |
rosbin, round spermatid basic protein 1 |
| Synonyms |
C230004D03Rik, Rsbp |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02903
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
103821436-103873952 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103835885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 308
(S308P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069246
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051139]
[ENSMUST00000068879]
|
| AlphaFold |
Q80T69 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051139
AA Change: S308P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000058934
Gene: ENSMUSG00000044098
AA Change: S308P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
477 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068879
AA Change: S308P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000069246
Gene: ENSMUSG00000044098
AA Change: S308P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
198 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
524 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000151927
AA Change: S269P
|
| SMART Domains |
Protein: ENSMUSP00000115693
Gene: ENSMUSG00000044098
AA Change: S269P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
214 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185731
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(9) : Targeted, other(3) Gene trapped(6) |
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
T |
G |
6: 116,397,296 (GRCm39) |
N296T |
probably damaging |
Het |
| Anks6 |
C |
T |
4: 47,045,004 (GRCm39) |
E301K |
probably damaging |
Het |
| Astn1 |
A |
G |
1: 158,516,120 (GRCm39) |
S1237G |
probably damaging |
Het |
| Atf6 |
G |
A |
1: 170,627,283 (GRCm39) |
P394S |
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,415,344 (GRCm39) |
M321I |
probably benign |
Het |
| C4bp |
G |
A |
1: 130,583,722 (GRCm39) |
T82I |
probably damaging |
Het |
| Cask |
A |
T |
X: 13,418,686 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,379,073 (GRCm39) |
S2906T |
probably damaging |
Het |
| Cfl1 |
T |
C |
19: 5,542,828 (GRCm39) |
F103L |
probably benign |
Het |
| Chrnb3 |
A |
T |
8: 27,876,834 (GRCm39) |
T83S |
probably damaging |
Het |
| Cmtr2 |
A |
G |
8: 110,949,510 (GRCm39) |
T607A |
probably benign |
Het |
| Cplane1 |
G |
T |
15: 8,299,262 (GRCm39) |
R3150M |
unknown |
Het |
| Cplane1 |
G |
T |
15: 8,299,263 (GRCm39) |
R3150S |
unknown |
Het |
| Cts7 |
A |
T |
13: 61,504,440 (GRCm39) |
|
probably benign |
Het |
| Dgkz |
A |
T |
2: 91,770,307 (GRCm39) |
Y514N |
possibly damaging |
Het |
| Dmrtc1b |
T |
A |
X: 101,757,173 (GRCm39) |
L206Q |
probably benign |
Het |
| Dus3l |
C |
T |
17: 57,075,363 (GRCm39) |
L397F |
probably damaging |
Het |
| Gm6356 |
C |
T |
14: 6,973,735 (GRCm38) |
G27E |
probably damaging |
Het |
| Hkdc1 |
C |
T |
10: 62,235,970 (GRCm39) |
|
probably null |
Het |
| Jkampl |
A |
G |
6: 73,446,103 (GRCm39) |
Y149H |
probably damaging |
Het |
| Kcmf1 |
A |
T |
6: 72,835,866 (GRCm39) |
V21E |
possibly damaging |
Het |
| Kcnh4 |
T |
A |
11: 100,648,480 (GRCm39) |
T75S |
possibly damaging |
Het |
| Lemd2 |
A |
G |
17: 27,412,184 (GRCm39) |
|
probably benign |
Het |
| Magee1 |
G |
T |
X: 104,166,945 (GRCm39) |
R910L |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,307,092 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b3-ps |
T |
A |
10: 39,823,639 (GRCm39) |
E207V |
possibly damaging |
Het |
| Or2ag15 |
A |
G |
7: 106,340,917 (GRCm39) |
S75P |
probably damaging |
Het |
| Or7a38 |
A |
G |
10: 78,753,250 (GRCm39) |
D192G |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,180,217 (GRCm39) |
V1026A |
probably damaging |
Het |
| Paxip1 |
A |
G |
5: 27,953,870 (GRCm39) |
L942P |
probably damaging |
Het |
| Ppp1r12b |
A |
T |
1: 134,883,387 (GRCm39) |
L45Q |
probably benign |
Het |
| Pramel23 |
A |
T |
4: 143,425,736 (GRCm39) |
M69K |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,502,447 (GRCm39) |
T824A |
possibly damaging |
Het |
| Rfwd3 |
T |
C |
8: 112,004,861 (GRCm39) |
T574A |
probably benign |
Het |
| Shisal2b |
T |
A |
13: 105,000,118 (GRCm39) |
Y35F |
probably benign |
Het |
| Smr2 |
A |
T |
5: 88,256,489 (GRCm39) |
I56F |
probably benign |
Het |
| Wdfy4 |
C |
T |
14: 32,831,607 (GRCm39) |
R873H |
probably damaging |
Het |
|
| Other mutations in Rsbn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00595:Rsbn1
|
APN |
3 |
103,836,006 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00725:Rsbn1
|
APN |
3 |
103,836,137 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01682:Rsbn1
|
APN |
3 |
103,869,696 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01978:Rsbn1
|
APN |
3 |
103,868,816 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02281:Rsbn1
|
APN |
3 |
103,869,777 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02615:Rsbn1
|
APN |
3 |
103,861,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02902:Rsbn1
|
APN |
3 |
103,860,972 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02927:Rsbn1
|
APN |
3 |
103,869,668 (GRCm39) |
missense |
probably benign |
|
|
IGL03007:Rsbn1
|
APN |
3 |
103,836,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03062:Rsbn1
|
APN |
3 |
103,860,945 (GRCm39) |
intron |
probably benign |
|
|
IGL03345:Rsbn1
|
APN |
3 |
103,822,466 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
F2404:Rsbn1
|
UTSW |
3 |
103,821,892 (GRCm39) |
nonsense |
probably null |
|
|
R0277:Rsbn1
|
UTSW |
3 |
103,821,897 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0815:Rsbn1
|
UTSW |
3 |
103,861,469 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1760:Rsbn1
|
UTSW |
3 |
103,867,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1801:Rsbn1
|
UTSW |
3 |
103,822,188 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2021:Rsbn1
|
UTSW |
3 |
103,821,789 (GRCm39) |
missense |
probably benign |
|
|
R2078:Rsbn1
|
UTSW |
3 |
103,868,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2330:Rsbn1
|
UTSW |
3 |
103,821,816 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3956:Rsbn1
|
UTSW |
3 |
103,835,991 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4094:Rsbn1
|
UTSW |
3 |
103,835,974 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4649:Rsbn1
|
UTSW |
3 |
103,861,096 (GRCm39) |
splice site |
probably null |
|
|
R4720:Rsbn1
|
UTSW |
3 |
103,836,336 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5299:Rsbn1
|
UTSW |
3 |
103,821,806 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5505:Rsbn1
|
UTSW |
3 |
103,836,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5699:Rsbn1
|
UTSW |
3 |
103,869,801 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5775:Rsbn1
|
UTSW |
3 |
103,869,888 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6509:Rsbn1
|
UTSW |
3 |
103,867,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6629:Rsbn1
|
UTSW |
3 |
103,835,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7070:Rsbn1
|
UTSW |
3 |
103,836,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7116:Rsbn1
|
UTSW |
3 |
103,821,892 (GRCm39) |
nonsense |
probably null |
|
|
R7623:Rsbn1
|
UTSW |
3 |
103,822,326 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8021:Rsbn1
|
UTSW |
3 |
103,835,898 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8524:Rsbn1
|
UTSW |
3 |
103,835,687 (GRCm39) |
nonsense |
probably null |
|
|
R8525:Rsbn1
|
UTSW |
3 |
103,821,538 (GRCm39) |
unclassified |
probably benign |
|
|
R8948:Rsbn1
|
UTSW |
3 |
103,868,830 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9003:Rsbn1
|
UTSW |
3 |
103,822,188 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9502:Rsbn1
|
UTSW |
3 |
103,822,146 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2015-12-18 |
Incidental Mutation