Incidental Mutation 'IGL01682:Rsbn1'
| ID |
103837 |
| 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 # |
IGL01682
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
103821436-103873952 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103869696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 719
(N719S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069246
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051139]
[ENSMUST00000068879]
|
| AlphaFold |
Q80T69 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051139
AA Change: N719S
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000058934
Gene: ENSMUSG00000044098
AA Change: N719S
| 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 benign
Transcript: ENSMUST00000068879
AA Change: N719S
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000069246
Gene: ENSMUSG00000044098
AA Change: N719S
| 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 |
probably benign
Transcript: ENSMUST00000151927
|
| SMART Domains |
Protein: ENSMUSP00000115693
Gene: ENSMUSG00000044098
| 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 |
noncoding transcript
Transcript: ENSMUST00000160110
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agmo |
T |
C |
12: 37,407,626 (GRCm39) |
|
probably benign |
Het |
| Atp2c1 |
C |
T |
9: 105,330,041 (GRCm39) |
G93D |
probably damaging |
Het |
| C2cd6 |
T |
G |
1: 59,101,660 (GRCm39) |
Y333S |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,263,067 (GRCm39) |
E414G |
possibly damaging |
Het |
| Capn10 |
C |
A |
1: 92,868,106 (GRCm39) |
T191K |
probably benign |
Het |
| Cd226 |
A |
T |
18: 89,287,187 (GRCm39) |
R328S |
probably damaging |
Het |
| Cdk10 |
A |
G |
8: 123,954,397 (GRCm39) |
|
probably null |
Het |
| Cyp4a31 |
T |
A |
4: 115,435,228 (GRCm39) |
V486D |
probably damaging |
Het |
| Dgke |
A |
T |
11: 88,943,267 (GRCm39) |
L241I |
probably damaging |
Het |
| Dnah6 |
G |
T |
6: 73,052,785 (GRCm39) |
A2965E |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,205,743 (GRCm39) |
C1112S |
probably damaging |
Het |
| Gm10228 |
T |
A |
16: 88,838,073 (GRCm39) |
Y77F |
unknown |
Het |
| Gng3 |
T |
C |
19: 8,815,944 (GRCm39) |
I25V |
probably benign |
Het |
| Gramd2a |
A |
G |
9: 59,619,393 (GRCm39) |
I61M |
possibly damaging |
Het |
| Hcar2 |
T |
C |
5: 124,002,582 (GRCm39) |
N307S |
probably benign |
Het |
| Iars1 |
G |
A |
13: 49,863,134 (GRCm39) |
E529K |
probably damaging |
Het |
| Ilvbl |
C |
T |
10: 78,412,941 (GRCm39) |
|
probably benign |
Het |
| Itprid2 |
A |
G |
2: 79,465,981 (GRCm39) |
Q33R |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,410,847 (GRCm39) |
K1447R |
probably benign |
Het |
| Mmp20 |
A |
G |
9: 7,671,376 (GRCm39) |
D426G |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
| Or4f4b |
G |
A |
2: 111,314,188 (GRCm39) |
G138S |
probably damaging |
Het |
| Or51f2 |
C |
T |
7: 102,526,440 (GRCm39) |
L38F |
probably benign |
Het |
| Pip4k2a |
A |
G |
2: 19,002,779 (GRCm39) |
S10P |
probably benign |
Het |
| Pth1r |
A |
T |
9: 110,552,774 (GRCm39) |
|
probably null |
Het |
| Rprd1b |
T |
C |
2: 157,892,080 (GRCm39) |
I201T |
probably damaging |
Het |
| Sorcs1 |
C |
T |
19: 50,169,944 (GRCm39) |
G939E |
probably benign |
Het |
| St8sia5 |
A |
G |
18: 77,336,196 (GRCm39) |
K210E |
probably damaging |
Het |
| Trav3-1 |
G |
A |
14: 52,818,649 (GRCm39) |
V108M |
probably benign |
Het |
| Washc4 |
T |
C |
10: 83,416,170 (GRCm39) |
I820T |
possibly 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 |
|
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 |
|
IGL02903:Rsbn1
|
APN |
3 |
103,835,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-01-21 |
Incidental Mutation