Incidental Mutation 'IGL02434:Rsbn1l'
ID |
293204 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rsbn1l
|
Ensembl Gene |
ENSMUSG00000039968 |
Gene Name |
round spermatid basic protein 1-like |
Synonyms |
8430412F05Rik, C330002G24Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.235)
|
Stock # |
IGL02434
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
21098026-21161396 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 21124732 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 357
(R357G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142789
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036489]
[ENSMUST00000196780]
[ENSMUST00000197089]
|
AlphaFold |
D3Z0K6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036489
AA Change: R357G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000039482 Gene: ENSMUSG00000039968 AA Change: R357G
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
62 |
N/A |
INTRINSIC |
low complexity region
|
71 |
109 |
N/A |
INTRINSIC |
low complexity region
|
136 |
156 |
N/A |
INTRINSIC |
low complexity region
|
176 |
194 |
N/A |
INTRINSIC |
low complexity region
|
229 |
249 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000196780
AA Change: R357G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000142789 Gene: ENSMUSG00000039968 AA Change: R357G
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
62 |
N/A |
INTRINSIC |
low complexity region
|
71 |
109 |
N/A |
INTRINSIC |
low complexity region
|
136 |
156 |
N/A |
INTRINSIC |
low complexity region
|
176 |
194 |
N/A |
INTRINSIC |
low complexity region
|
229 |
249 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197089
|
SMART Domains |
Protein: ENSMUSP00000142461 Gene: ENSMUSG00000039968
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
45 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197493
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago2 |
C |
A |
15: 72,992,930 (GRCm39) |
G525V |
probably damaging |
Het |
Agxt2 |
T |
C |
15: 10,358,686 (GRCm39) |
S2P |
possibly damaging |
Het |
Atg2b |
C |
T |
12: 105,605,466 (GRCm39) |
V339I |
probably benign |
Het |
Btc |
T |
A |
5: 91,510,186 (GRCm39) |
I136F |
probably damaging |
Het |
Cemip |
A |
T |
7: 83,604,492 (GRCm39) |
M850K |
probably damaging |
Het |
Cfap54 |
T |
A |
10: 92,902,616 (GRCm39) |
T179S |
probably benign |
Het |
Chd7 |
T |
C |
4: 8,752,145 (GRCm39) |
L214P |
probably benign |
Het |
Garnl3 |
T |
A |
2: 32,944,217 (GRCm39) |
N114I |
probably damaging |
Het |
Gm10010 |
G |
T |
6: 128,177,433 (GRCm39) |
|
noncoding transcript |
Het |
Gstcd |
A |
G |
3: 132,701,963 (GRCm39) |
|
probably benign |
Het |
Htr2b |
A |
G |
1: 86,038,492 (GRCm39) |
V38A |
probably benign |
Het |
Hyal4 |
G |
A |
6: 24,763,857 (GRCm39) |
W339* |
probably null |
Het |
Ifnb1 |
A |
G |
4: 88,440,755 (GRCm39) |
V86A |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,466,883 (GRCm39) |
|
probably null |
Het |
Jag1 |
T |
C |
2: 136,929,075 (GRCm39) |
S794G |
probably benign |
Het |
Kdm5c |
T |
A |
X: 151,016,558 (GRCm39) |
M1K |
probably null |
Het |
Lct |
A |
G |
1: 128,231,527 (GRCm39) |
V774A |
probably damaging |
Het |
Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
Med14 |
A |
T |
X: 12,612,063 (GRCm39) |
D371E |
possibly damaging |
Het |
Nrcam |
A |
G |
12: 44,637,026 (GRCm39) |
|
probably benign |
Het |
Or14j10 |
T |
A |
17: 37,935,467 (GRCm39) |
N20Y |
possibly damaging |
Het |
Or52e18 |
A |
T |
7: 104,609,279 (GRCm39) |
M220K |
probably benign |
Het |
Or52e18 |
A |
T |
7: 104,609,281 (GRCm39) |
Y219* |
probably null |
Het |
Pitpnm1 |
C |
T |
19: 4,153,377 (GRCm39) |
R178W |
probably benign |
Het |
Prb1b |
T |
A |
6: 132,289,339 (GRCm39) |
R162W |
unknown |
Het |
Prkcg |
A |
G |
7: 3,367,406 (GRCm39) |
I324V |
probably benign |
Het |
Prr30 |
A |
T |
14: 101,435,804 (GRCm39) |
C253S |
possibly damaging |
Het |
Ptgis |
A |
T |
2: 167,082,262 (GRCm39) |
|
probably null |
Het |
Rab11fip3 |
C |
T |
17: 26,287,809 (GRCm39) |
A115T |
possibly damaging |
Het |
Reps2 |
C |
T |
X: 161,309,253 (GRCm39) |
|
probably null |
Het |
Rev3l |
A |
G |
10: 39,698,587 (GRCm39) |
D1028G |
probably damaging |
Het |
Scn5a |
A |
G |
9: 119,362,859 (GRCm39) |
L587P |
possibly damaging |
Het |
Tanc2 |
C |
T |
11: 105,670,868 (GRCm39) |
T155I |
probably benign |
Het |
Tfb2m |
A |
G |
1: 179,359,700 (GRCm39) |
|
probably benign |
Het |
Tfpi |
A |
G |
2: 84,282,892 (GRCm39) |
|
probably benign |
Het |
Tg |
T |
C |
15: 66,636,191 (GRCm39) |
S593P |
probably damaging |
Het |
Unc13c |
T |
C |
9: 73,839,910 (GRCm39) |
S314G |
probably benign |
Het |
|
Other mutations in Rsbn1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00793:Rsbn1l
|
APN |
5 |
21,101,153 (GRCm39) |
missense |
probably benign |
0.08 |
IGL01631:Rsbn1l
|
APN |
5 |
21,101,570 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01631:Rsbn1l
|
APN |
5 |
21,101,569 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02237:Rsbn1l
|
APN |
5 |
21,124,604 (GRCm39) |
missense |
probably benign |
0.39 |
IGL02458:Rsbn1l
|
APN |
5 |
21,156,734 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02994:Rsbn1l
|
APN |
5 |
21,113,232 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4280001:Rsbn1l
|
UTSW |
5 |
21,124,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R0288:Rsbn1l
|
UTSW |
5 |
21,125,038 (GRCm39) |
missense |
probably damaging |
0.97 |
R1429:Rsbn1l
|
UTSW |
5 |
21,125,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R1524:Rsbn1l
|
UTSW |
5 |
21,156,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R1713:Rsbn1l
|
UTSW |
5 |
21,156,488 (GRCm39) |
missense |
probably benign |
0.18 |
R1875:Rsbn1l
|
UTSW |
5 |
21,156,696 (GRCm39) |
missense |
probably benign |
0.17 |
R1998:Rsbn1l
|
UTSW |
5 |
21,107,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R1999:Rsbn1l
|
UTSW |
5 |
21,107,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R2000:Rsbn1l
|
UTSW |
5 |
21,107,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R2504:Rsbn1l
|
UTSW |
5 |
21,107,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R2566:Rsbn1l
|
UTSW |
5 |
21,124,767 (GRCm39) |
missense |
probably benign |
0.40 |
R3434:Rsbn1l
|
UTSW |
5 |
21,110,928 (GRCm39) |
splice site |
probably benign |
|
R3789:Rsbn1l
|
UTSW |
5 |
21,101,106 (GRCm39) |
missense |
probably benign |
0.24 |
R3893:Rsbn1l
|
UTSW |
5 |
21,110,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R3924:Rsbn1l
|
UTSW |
5 |
21,124,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R4335:Rsbn1l
|
UTSW |
5 |
21,113,191 (GRCm39) |
missense |
probably null |
0.45 |
R4422:Rsbn1l
|
UTSW |
5 |
21,101,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R5131:Rsbn1l
|
UTSW |
5 |
21,101,243 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5212:Rsbn1l
|
UTSW |
5 |
21,101,212 (GRCm39) |
missense |
probably benign |
0.03 |
R5739:Rsbn1l
|
UTSW |
5 |
21,110,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R6736:Rsbn1l
|
UTSW |
5 |
21,113,222 (GRCm39) |
missense |
probably benign |
0.45 |
R6980:Rsbn1l
|
UTSW |
5 |
21,101,482 (GRCm39) |
missense |
probably benign |
|
R7252:Rsbn1l
|
UTSW |
5 |
21,113,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R7443:Rsbn1l
|
UTSW |
5 |
21,132,621 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7538:Rsbn1l
|
UTSW |
5 |
21,101,455 (GRCm39) |
missense |
probably benign |
0.01 |
R7914:Rsbn1l
|
UTSW |
5 |
21,110,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R8396:Rsbn1l
|
UTSW |
5 |
21,132,665 (GRCm39) |
missense |
probably benign |
0.40 |
R8899:Rsbn1l
|
UTSW |
5 |
21,101,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R8941:Rsbn1l
|
UTSW |
5 |
21,110,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R9472:Rsbn1l
|
UTSW |
5 |
21,113,119 (GRCm39) |
missense |
probably damaging |
0.98 |
R9723:Rsbn1l
|
UTSW |
5 |
21,101,464 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
Posted On |
2015-04-16 |