Incidental Mutation 'R6509:Rsbn1'
| ID |
519860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rsbn1
|
| Ensembl Gene |
ENSMUSG00000044098 |
| Gene Name |
rosbin, round spermatid basic protein 1 |
| Synonyms |
C230004D03Rik, Rsbp |
| MMRRC Submission |
044422-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6509 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
103821436-103873952 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103867348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 563
(Y563C)
|
| 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: Y563C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058934
Gene: ENSMUSG00000044098
AA Change: Y563C
| 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: Y563C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069246
Gene: ENSMUSG00000044098
AA Change: Y563C
| 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 |
unknown
Transcript: ENSMUST00000185731
AA Change: Y193C
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(9) : Targeted, other(3) Gene trapped(6) |
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
G |
A |
5: 109,885,250 (GRCm39) |
R203* |
probably null |
Het |
| Ccnc |
A |
G |
4: 21,740,642 (GRCm39) |
N133D |
probably benign |
Het |
| Cfap299 |
C |
T |
5: 98,477,256 (GRCm39) |
T15I |
probably benign |
Het |
| Lbhd2 |
A |
G |
12: 111,376,747 (GRCm39) |
R65G |
possibly damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,395,240 (GRCm39) |
S62P |
probably benign |
Het |
| Map3k1 |
T |
A |
13: 111,890,363 (GRCm39) |
M1279L |
possibly damaging |
Het |
| Ncapg2 |
G |
A |
12: 116,391,376 (GRCm39) |
R475Q |
probably damaging |
Het |
| Nlrp5 |
A |
T |
7: 23,117,341 (GRCm39) |
N355I |
probably damaging |
Het |
| Or7g29 |
A |
G |
9: 19,286,439 (GRCm39) |
V246A |
probably benign |
Het |
| Pdzd8 |
A |
G |
19: 59,333,298 (GRCm39) |
F241S |
probably benign |
Het |
| Rgl3 |
A |
G |
9: 21,883,204 (GRCm39) |
S705P |
probably benign |
Het |
| Septin9 |
A |
G |
11: 117,181,253 (GRCm39) |
I18V |
probably benign |
Het |
| Sycp2 |
G |
A |
2: 178,037,687 (GRCm39) |
P153S |
probably damaging |
Het |
| Tbc1d4 |
C |
A |
14: 101,845,754 (GRCm39) |
R48L |
possibly damaging |
Het |
| Vmn1r195 |
G |
A |
13: 22,463,279 (GRCm39) |
G250R |
probably benign |
Het |
| Vmn2r66 |
G |
T |
7: 84,656,054 (GRCm39) |
P321T |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTTGTCTAGAGGAATTTCATGC -3'
(R):5'- TCCACTGAGTCACAATCGCTC -3'
Sequencing Primer
(F):5'- GTCTAGAGGAATTTCATGCATTCAG -3'
(R):5'- GAGCACCGTTTCATCAAAGTGTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation