Incidental Mutation 'IGL02994:Rsbn1l'
ID |
407051 |
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 # |
IGL02994
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
21098026-21161396 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 21113232 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 430
(T430K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142789
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036489]
[ENSMUST00000196780]
|
AlphaFold |
D3Z0K6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036489
AA Change: T430K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039482 Gene: ENSMUSG00000039968 AA Change: T430K
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: T430K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142789 Gene: ENSMUSG00000039968 AA Change: T430K
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp3 |
T |
A |
9: 104,186,602 (GRCm39) |
|
probably benign |
Het |
Ahnak2 |
A |
G |
12: 112,749,827 (GRCm39) |
V137A |
probably damaging |
Het |
Alk |
G |
T |
17: 72,256,815 (GRCm39) |
F681L |
probably benign |
Het |
Ankrd35 |
T |
C |
3: 96,590,307 (GRCm39) |
|
probably benign |
Het |
Aqp3 |
A |
T |
4: 41,093,614 (GRCm39) |
C267S |
probably benign |
Het |
Arl13b |
T |
A |
16: 62,632,366 (GRCm39) |
I76F |
probably damaging |
Het |
Ccn2 |
T |
A |
10: 24,472,763 (GRCm39) |
N224K |
probably damaging |
Het |
Cdc42bpa |
G |
T |
1: 179,827,002 (GRCm39) |
R85L |
probably damaging |
Het |
Dock4 |
T |
G |
12: 40,829,159 (GRCm39) |
I1015R |
probably damaging |
Het |
Dst |
A |
G |
1: 34,268,333 (GRCm39) |
|
probably benign |
Het |
Egfr |
T |
C |
11: 16,861,811 (GRCm39) |
Y1197H |
probably damaging |
Het |
Endod1 |
A |
G |
9: 14,268,183 (GRCm39) |
V434A |
possibly damaging |
Het |
Exosc9 |
A |
G |
3: 36,607,287 (GRCm39) |
|
probably benign |
Het |
Fgg |
G |
T |
3: 82,915,781 (GRCm39) |
R74L |
probably benign |
Het |
Fmo2 |
A |
T |
1: 162,708,189 (GRCm39) |
D315E |
probably damaging |
Het |
H2-M3 |
G |
A |
17: 37,581,629 (GRCm39) |
S97N |
probably benign |
Het |
Ighv14-2 |
T |
A |
12: 113,958,211 (GRCm39) |
T77S |
probably benign |
Het |
Klhl9 |
A |
T |
4: 88,639,434 (GRCm39) |
L269* |
probably null |
Het |
Lin37 |
G |
A |
7: 30,256,585 (GRCm39) |
R84W |
probably damaging |
Het |
Macroh2a1 |
T |
C |
13: 56,252,112 (GRCm39) |
|
probably benign |
Het |
Mkln1 |
T |
C |
6: 31,467,378 (GRCm39) |
S31P |
probably damaging |
Het |
Nacad |
A |
G |
11: 6,549,528 (GRCm39) |
L1221P |
possibly damaging |
Het |
Nbr1 |
A |
T |
11: 101,447,053 (GRCm39) |
N13I |
probably damaging |
Het |
Ndfip1 |
T |
C |
18: 38,585,469 (GRCm39) |
I161T |
probably damaging |
Het |
Nsg1 |
A |
G |
5: 38,312,946 (GRCm39) |
|
probably benign |
Het |
Serpina6 |
A |
G |
12: 103,620,210 (GRCm39) |
S180P |
probably benign |
Het |
Slc4a5 |
T |
C |
6: 83,249,106 (GRCm39) |
L570P |
probably damaging |
Het |
Tank |
A |
G |
2: 61,480,636 (GRCm39) |
|
probably benign |
Het |
Tpd52 |
A |
G |
3: 9,012,590 (GRCm39) |
F76L |
probably benign |
Het |
Ubox5 |
A |
C |
2: 130,442,237 (GRCm39) |
L150R |
probably benign |
Het |
Zfp710 |
T |
C |
7: 79,731,581 (GRCm39) |
S253P |
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 |
IGL02434:Rsbn1l
|
APN |
5 |
21,124,732 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02458:Rsbn1l
|
APN |
5 |
21,156,734 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2016-08-02 |