Incidental Mutation 'IGL01631:Rsbn1l'
ID |
93447 |
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 # |
IGL01631
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
21098026-21161396 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 21101569 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 657
(S657L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036489]
[ENSMUST00000196780]
|
AlphaFold |
D3Z0K6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036489
AA Change: S657L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000039482 Gene: ENSMUSG00000039968 AA Change: S657L
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: ENSMUST00000196780
|
SMART Domains |
Protein: ENSMUSP00000142789 Gene: ENSMUSG00000039968
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apip |
C |
A |
2: 102,904,194 (GRCm39) |
|
probably benign |
Het |
Arid4a |
C |
T |
12: 71,069,036 (GRCm39) |
|
probably benign |
Het |
Brwd1 |
C |
A |
16: 95,847,666 (GRCm39) |
E98D |
probably damaging |
Het |
Cactin |
A |
G |
10: 81,159,058 (GRCm39) |
E303G |
probably benign |
Het |
Ccdc181 |
T |
A |
1: 164,107,713 (GRCm39) |
I132K |
possibly damaging |
Het |
Celsr3 |
A |
G |
9: 108,714,603 (GRCm39) |
H1995R |
probably benign |
Het |
Cog4 |
A |
G |
8: 111,608,472 (GRCm39) |
E756G |
probably damaging |
Het |
Ctsf |
T |
C |
19: 4,908,106 (GRCm39) |
L217P |
probably damaging |
Het |
Dmp1 |
G |
T |
5: 104,360,734 (GRCm39) |
R470L |
probably benign |
Het |
Dnajc9 |
T |
C |
14: 20,438,176 (GRCm39) |
D142G |
probably benign |
Het |
Ednrb |
T |
A |
14: 104,080,661 (GRCm39) |
R84S |
probably benign |
Het |
Gm1110 |
A |
T |
9: 26,809,212 (GRCm39) |
|
probably null |
Het |
Has2 |
A |
G |
15: 56,545,072 (GRCm39) |
S177P |
possibly damaging |
Het |
Herc6 |
C |
T |
6: 57,581,092 (GRCm39) |
S264F |
probably benign |
Het |
Il1rl2 |
T |
A |
1: 40,395,974 (GRCm39) |
|
probably null |
Het |
Ltbp2 |
A |
G |
12: 84,855,920 (GRCm39) |
|
probably null |
Het |
Map4 |
A |
G |
9: 109,892,201 (GRCm39) |
|
probably benign |
Het |
Marchf4 |
T |
A |
1: 72,491,690 (GRCm39) |
K194* |
probably null |
Het |
Megf10 |
A |
G |
18: 57,392,869 (GRCm39) |
D422G |
possibly damaging |
Het |
Mfsd2a |
C |
A |
4: 122,843,100 (GRCm39) |
A394S |
probably benign |
Het |
Mmp27 |
T |
C |
9: 7,573,289 (GRCm39) |
|
probably benign |
Het |
Mvd |
A |
G |
8: 123,161,560 (GRCm39) |
Y370H |
possibly damaging |
Het |
Or4a81 |
T |
C |
2: 89,619,129 (GRCm39) |
D189G |
probably damaging |
Het |
Or8b55 |
T |
A |
9: 38,727,335 (GRCm39) |
C179S |
probably damaging |
Het |
Pramel31 |
A |
G |
4: 144,089,015 (GRCm39) |
H111R |
probably benign |
Het |
Ptk2 |
G |
A |
15: 73,088,220 (GRCm39) |
H859Y |
probably damaging |
Het |
Ptprq |
T |
A |
10: 107,479,399 (GRCm39) |
E1209D |
probably benign |
Het |
Rhot1 |
C |
T |
11: 80,156,600 (GRCm39) |
T636M |
probably damaging |
Het |
Ripk2 |
C |
A |
4: 16,163,342 (GRCm39) |
A19S |
possibly damaging |
Het |
Sema6c |
A |
G |
3: 95,077,714 (GRCm39) |
T450A |
probably benign |
Het |
Slc25a1 |
C |
T |
16: 17,743,930 (GRCm39) |
C262Y |
probably damaging |
Het |
Slfn3 |
T |
C |
11: 83,104,361 (GRCm39) |
S288P |
probably damaging |
Het |
Snrnp200 |
T |
A |
2: 127,080,744 (GRCm39) |
|
probably benign |
Het |
Spata31e2 |
T |
C |
1: 26,724,495 (GRCm39) |
I228M |
probably damaging |
Het |
Ssu2 |
T |
C |
6: 112,351,843 (GRCm39) |
Y294C |
probably damaging |
Het |
Terb1 |
A |
G |
8: 105,199,496 (GRCm39) |
S483P |
probably damaging |
Het |
Tsga13 |
T |
C |
6: 30,890,501 (GRCm39) |
K8E |
possibly damaging |
Het |
Zbbx |
T |
G |
3: 74,985,984 (GRCm39) |
D351A |
probably damaging |
Het |
Zfp454 |
G |
T |
11: 50,774,562 (GRCm39) |
A37D |
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 |
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 |
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 |
2013-12-09 |