Incidental Mutation 'IGL01978:Rsbn1'
| ID |
181766 |
| 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 # |
IGL01978
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
103821436-103873952 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103868816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 618
(D618E)
|
| 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: D618E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000058934
Gene: ENSMUSG00000044098
AA Change: D618E
| 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: D618E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000069246
Gene: ENSMUSG00000044098
AA Change: D618E
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
A |
17: 48,453,164 (GRCm39) |
T6S |
probably damaging |
Het |
| Acot5 |
T |
C |
12: 84,122,172 (GRCm39) |
V252A |
possibly damaging |
Het |
| Bmper |
A |
T |
9: 23,292,737 (GRCm39) |
N349Y |
probably damaging |
Het |
| Brap |
A |
G |
5: 121,816,910 (GRCm39) |
|
probably benign |
Het |
| Col9a2 |
G |
A |
4: 120,901,863 (GRCm39) |
G139E |
unknown |
Het |
| Cplane1 |
A |
T |
15: 8,248,866 (GRCm39) |
N1805I |
probably damaging |
Het |
| Cyp2j8 |
A |
C |
4: 96,392,246 (GRCm39) |
|
probably null |
Het |
| Dcbld2 |
A |
G |
16: 58,284,682 (GRCm39) |
D612G |
probably benign |
Het |
| Dsc3 |
C |
T |
18: 20,107,253 (GRCm39) |
R456Q |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,160,972 (GRCm39) |
T3253A |
probably benign |
Het |
| Hoxc12 |
T |
A |
15: 102,845,299 (GRCm39) |
H4Q |
probably damaging |
Het |
| Il6st |
A |
G |
13: 112,633,891 (GRCm39) |
E445G |
possibly damaging |
Het |
| Ipo8 |
T |
C |
6: 148,678,787 (GRCm39) |
E937G |
probably benign |
Het |
| Kif5a |
A |
C |
10: 127,081,608 (GRCm39) |
D185E |
probably benign |
Het |
| Klhl38 |
T |
C |
15: 58,178,485 (GRCm39) |
D495G |
probably damaging |
Het |
| Klra5 |
A |
G |
6: 129,888,393 (GRCm39) |
V11A |
probably benign |
Het |
| Lrch1 |
G |
A |
14: 75,023,782 (GRCm39) |
T581M |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,017,315 (GRCm39) |
I450T |
probably damaging |
Het |
| Mrgprb2 |
C |
A |
7: 48,202,312 (GRCm39) |
V138L |
probably damaging |
Het |
| Muc15 |
G |
A |
2: 110,561,941 (GRCm39) |
A126T |
probably benign |
Het |
| Mybpc1 |
A |
T |
10: 88,367,632 (GRCm39) |
I522K |
probably damaging |
Het |
| Nectin1 |
G |
A |
9: 43,703,444 (GRCm39) |
R234H |
probably damaging |
Het |
| Or5b98 |
T |
C |
19: 12,931,406 (GRCm39) |
F151S |
probably benign |
Het |
| Or5h22 |
A |
T |
16: 58,894,630 (GRCm39) |
I271K |
probably benign |
Het |
| Pdia6 |
T |
A |
12: 17,324,423 (GRCm39) |
H91Q |
possibly damaging |
Het |
| Pfkfb4 |
A |
T |
9: 108,858,010 (GRCm39) |
H445L |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,911,336 (GRCm39) |
T314A |
unknown |
Het |
| Rb1cc1 |
A |
G |
1: 6,308,592 (GRCm39) |
D159G |
probably damaging |
Het |
| Rhoh |
T |
A |
5: 66,050,031 (GRCm39) |
S100R |
probably benign |
Het |
| Slc25a47 |
T |
C |
12: 108,817,116 (GRCm39) |
V4A |
probably damaging |
Het |
| Svs3b |
T |
A |
2: 164,098,541 (GRCm39) |
M1L |
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,331,005 (GRCm39) |
N1379S |
probably benign |
Het |
| Tmed3 |
T |
C |
9: 89,586,806 (GRCm39) |
D58G |
probably benign |
Het |
| Trh |
G |
A |
6: 92,219,596 (GRCm39) |
A240V |
probably benign |
Het |
| Ubox5 |
A |
T |
2: 130,442,372 (GRCm39) |
V105E |
probably benign |
Het |
| Vmn2r67 |
A |
G |
7: 84,800,649 (GRCm39) |
|
probably null |
Het |
| Vps13c |
A |
G |
9: 67,837,925 (GRCm39) |
H1825R |
probably benign |
Het |
| Wasf1 |
C |
A |
10: 40,812,197 (GRCm39) |
P329T |
unknown |
Het |
| Wee2 |
T |
C |
6: 40,432,087 (GRCm39) |
F219L |
probably damaging |
Het |
| Zp3r |
T |
C |
1: 130,526,678 (GRCm39) |
D175G |
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 |
|
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 |
2014-05-07 |
Incidental Mutation