Incidental Mutation 'R5775:Rsbn1'
ID |
448710 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rsbn1
|
Ensembl Gene |
ENSMUSG00000044098 |
Gene Name |
rosbin, round spermatid basic protein 1 |
Synonyms |
C230004D03Rik, Rsbp |
MMRRC Submission |
043374-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5775 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
103821436-103873952 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 103869888 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 783
(Q783L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069246
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051139]
[ENSMUST00000068879]
|
AlphaFold |
Q80T69 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051139
AA Change: Q783L
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000058934 Gene: ENSMUSG00000044098 AA Change: Q783L
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 |
possibly damaging
Transcript: ENSMUST00000068879
AA Change: Q783L
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000069246 Gene: ENSMUSG00000044098 AA Change: Q783L
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 |
possibly damaging
Transcript: ENSMUST00000106806
AA Change: Q736L
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000102418 Gene: ENSMUSG00000044098 AA Change: Q736L
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: 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
|
Meta Mutation Damage Score |
0.0604 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
97% (59/61) |
Allele List at MGI |
All alleles(9) : Targeted, other(3) Gene trapped(6) |
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6a |
A |
G |
12: 113,509,886 (GRCm39) |
D753G |
possibly damaging |
Het |
Arpc2 |
T |
A |
1: 74,295,108 (GRCm39) |
|
probably null |
Het |
Atxn2 |
C |
T |
5: 121,951,512 (GRCm39) |
T619M |
probably damaging |
Het |
Cacna1s |
T |
C |
1: 136,035,860 (GRCm39) |
Y1120H |
probably damaging |
Het |
Calm5 |
T |
C |
13: 3,904,435 (GRCm39) |
L20S |
probably damaging |
Het |
Carmil1 |
T |
C |
13: 24,460,520 (GRCm39) |
I20V |
probably benign |
Het |
Cd177 |
T |
C |
7: 24,451,693 (GRCm39) |
E441G |
probably damaging |
Het |
Cd63 |
T |
A |
10: 128,746,299 (GRCm39) |
C9S |
probably damaging |
Het |
Cep250 |
A |
C |
2: 155,811,294 (GRCm39) |
D380A |
possibly damaging |
Het |
Col5a3 |
G |
T |
9: 20,712,368 (GRCm39) |
P509Q |
unknown |
Het |
Cyp11b2 |
A |
G |
15: 74,725,327 (GRCm39) |
V264A |
probably benign |
Het |
Dennd6a |
T |
A |
14: 26,340,528 (GRCm39) |
L214* |
probably null |
Het |
Dna2 |
A |
G |
10: 62,785,021 (GRCm39) |
N46S |
possibly damaging |
Het |
Elovl1 |
G |
A |
4: 118,288,094 (GRCm39) |
V77I |
probably benign |
Het |
Eml1 |
A |
T |
12: 108,472,813 (GRCm39) |
Y207F |
probably damaging |
Het |
Epha6 |
C |
T |
16: 59,639,357 (GRCm39) |
R839Q |
possibly damaging |
Het |
Erlec1 |
A |
T |
11: 30,893,848 (GRCm39) |
S105T |
probably benign |
Het |
Esp3 |
T |
A |
17: 40,944,468 (GRCm39) |
S37T |
possibly damaging |
Het |
Foxh1 |
G |
A |
15: 76,554,049 (GRCm39) |
A8V |
probably benign |
Het |
Fut1 |
A |
C |
7: 45,268,886 (GRCm39) |
D280A |
probably damaging |
Het |
Gm13998 |
G |
T |
2: 119,708,892 (GRCm39) |
|
noncoding transcript |
Het |
Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
H2az1 |
T |
C |
3: 137,571,380 (GRCm39) |
Y61H |
probably damaging |
Het |
Kcns1 |
T |
C |
2: 164,006,686 (GRCm39) |
I426V |
probably damaging |
Het |
Kdm4c |
T |
G |
4: 74,277,668 (GRCm39) |
V774G |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,228,639 (GRCm39) |
V673I |
probably benign |
Het |
Mtnr1b |
G |
A |
9: 15,774,168 (GRCm39) |
A297V |
possibly damaging |
Het |
Or5d43 |
A |
T |
2: 88,105,045 (GRCm39) |
M116K |
probably damaging |
Het |
Or8b40 |
A |
T |
9: 38,027,423 (GRCm39) |
E110D |
probably damaging |
Het |
Osbpl5 |
A |
T |
7: 143,258,266 (GRCm39) |
V346D |
probably benign |
Het |
Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
Pgpep1 |
G |
A |
8: 71,105,101 (GRCm39) |
T53M |
probably damaging |
Het |
Pigo |
T |
C |
4: 43,023,475 (GRCm39) |
D233G |
probably damaging |
Het |
Pmm1 |
A |
T |
15: 81,836,156 (GRCm39) |
I152N |
probably benign |
Het |
Pot1a |
A |
T |
6: 25,757,297 (GRCm39) |
|
probably null |
Het |
Ppp1r12b |
G |
T |
1: 134,803,780 (GRCm39) |
L460I |
probably benign |
Het |
Prrc2a |
T |
C |
17: 35,377,463 (GRCm39) |
D565G |
unknown |
Het |
Psd |
C |
A |
19: 46,303,211 (GRCm39) |
E724* |
probably null |
Het |
Rasa2 |
C |
T |
9: 96,459,521 (GRCm39) |
|
probably null |
Het |
Ryr2 |
T |
C |
13: 11,784,848 (GRCm39) |
Y1035C |
probably damaging |
Het |
Sec24d |
C |
T |
3: 123,084,109 (GRCm39) |
A96V |
probably benign |
Het |
Sec61a2 |
A |
T |
2: 5,887,585 (GRCm39) |
|
probably null |
Het |
Sec62 |
A |
G |
3: 30,847,436 (GRCm39) |
|
probably benign |
Het |
Tcstv2a |
T |
A |
13: 120,725,475 (GRCm39) |
C46* |
probably null |
Het |
Tmem132b |
T |
A |
5: 125,715,394 (GRCm39) |
|
probably null |
Het |
Tnip3 |
A |
G |
6: 65,591,741 (GRCm39) |
S247G |
probably benign |
Het |
Traf3 |
A |
G |
12: 111,219,162 (GRCm39) |
K263R |
possibly damaging |
Het |
Tubgcp3 |
A |
T |
8: 12,675,056 (GRCm39) |
I713N |
probably damaging |
Het |
Unc5c |
A |
G |
3: 141,534,281 (GRCm39) |
E860G |
probably damaging |
Het |
Usp44 |
A |
G |
10: 93,681,840 (GRCm39) |
S97G |
possibly damaging |
Het |
Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
Vps37a |
A |
G |
8: 40,982,160 (GRCm39) |
H109R |
probably damaging |
Het |
Wfikkn2 |
G |
T |
11: 94,129,114 (GRCm39) |
D342E |
probably benign |
Het |
Zfp354b |
A |
T |
11: 50,813,647 (GRCm39) |
F426Y |
probably benign |
Het |
Zfp462 |
C |
A |
4: 55,010,590 (GRCm39) |
T852N |
probably damaging |
Het |
Zfp987 |
T |
G |
4: 146,061,505 (GRCm39) |
S312R |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTTGACTCCCAGTGTGTGAG -3'
(R):5'- GCAGCAGACCCACTATTACATACTG -3'
Sequencing Primer
(F):5'- CTCCCAGTGTGTGAGAATAAAAACTG -3'
(R):5'- CTAACGATACAACTCTTAGCTTTGC -3'
|
Posted On |
2016-12-15 |