Incidental Mutation 'IGL02316:Rsl1'
ID |
288048 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rsl1
|
Ensembl Gene |
ENSMUSG00000058900 |
Gene Name |
regulator of sex limited protein 1 |
Synonyms |
rslcan-9 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
IGL02316
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
67321246-67332108 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 67325120 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021997
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021997]
[ENSMUST00000225334]
|
AlphaFold |
Q7M6Y1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000021997
|
SMART Domains |
Protein: ENSMUSP00000021997 Gene: ENSMUSG00000058900
Domain | Start | End | E-Value | Type |
KRAB
|
15 |
75 |
2.67e-33 |
SMART |
ZnF_C2H2
|
119 |
141 |
1.92e-2 |
SMART |
ZnF_C2H2
|
147 |
169 |
1.6e-4 |
SMART |
ZnF_C2H2
|
175 |
197 |
1.28e-3 |
SMART |
ZnF_C2H2
|
203 |
225 |
1.69e-3 |
SMART |
ZnF_C2H2
|
259 |
281 |
3.83e-2 |
SMART |
ZnF_C2H2
|
287 |
309 |
5.14e-3 |
SMART |
ZnF_C2H2
|
315 |
337 |
6.78e-3 |
SMART |
ZnF_C2H2
|
343 |
365 |
8.94e-3 |
SMART |
ZnF_C2H2
|
371 |
393 |
9.44e-2 |
SMART |
ZnF_C2H2
|
399 |
421 |
3.58e-2 |
SMART |
ZnF_C2H2
|
427 |
449 |
5.5e-3 |
SMART |
ZnF_C2H2
|
455 |
477 |
4.72e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225334
|
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 |
Akr1c13 |
G |
T |
13: 4,253,458 (GRCm39) |
|
probably benign |
Het |
Arhgap26 |
C |
T |
18: 38,775,599 (GRCm39) |
|
noncoding transcript |
Het |
Atp5f1b |
T |
C |
10: 127,920,178 (GRCm39) |
V108A |
probably benign |
Het |
B230307C23Rik |
G |
A |
16: 97,809,850 (GRCm39) |
V9M |
probably damaging |
Het |
Ccdc85c |
T |
A |
12: 108,177,829 (GRCm39) |
H321L |
probably damaging |
Het |
Diaph3 |
A |
T |
14: 87,223,551 (GRCm39) |
M321K |
possibly damaging |
Het |
Dicer1 |
G |
A |
12: 104,668,812 (GRCm39) |
A1290V |
probably damaging |
Het |
Dnah6 |
G |
A |
6: 73,145,894 (GRCm39) |
T839M |
probably benign |
Het |
Eif3a |
G |
A |
19: 60,760,076 (GRCm39) |
|
probably benign |
Het |
Eml1 |
T |
C |
12: 108,501,018 (GRCm39) |
|
probably benign |
Het |
Exoc4 |
A |
G |
6: 33,887,519 (GRCm39) |
Q769R |
probably damaging |
Het |
Fam184a |
T |
G |
10: 53,514,335 (GRCm39) |
T426P |
probably damaging |
Het |
Fsip2 |
C |
A |
2: 82,809,137 (GRCm39) |
H1819N |
probably benign |
Het |
Gm6686 |
T |
A |
17: 15,786,500 (GRCm39) |
|
probably benign |
Het |
Hadha |
T |
C |
5: 30,331,565 (GRCm39) |
S464G |
probably benign |
Het |
Ighv5-17 |
A |
T |
12: 113,822,775 (GRCm39) |
C115* |
probably null |
Het |
Jmjd6 |
T |
C |
11: 116,733,928 (GRCm39) |
Y31C |
possibly damaging |
Het |
Klrb1-ps1 |
G |
A |
6: 129,093,532 (GRCm39) |
|
noncoding transcript |
Het |
Mgat1 |
T |
C |
11: 49,152,185 (GRCm39) |
Y223H |
probably damaging |
Het |
Muc4 |
T |
C |
16: 32,569,668 (GRCm39) |
S243P |
possibly damaging |
Het |
Numa1 |
T |
C |
7: 101,650,577 (GRCm39) |
L69P |
probably damaging |
Het |
Or11h6 |
T |
C |
14: 50,879,744 (GRCm39) |
I2T |
probably benign |
Het |
Or1j21 |
A |
T |
2: 36,683,632 (GRCm39) |
H128L |
probably damaging |
Het |
Or1j4 |
C |
A |
2: 36,740,294 (GRCm39) |
P79T |
probably damaging |
Het |
Or4p23 |
A |
G |
2: 88,577,187 (GRCm39) |
F15S |
probably damaging |
Het |
Pde1c |
A |
T |
6: 56,128,336 (GRCm39) |
D332E |
possibly damaging |
Het |
Pitpnm1 |
A |
G |
19: 4,162,835 (GRCm39) |
I1143V |
probably benign |
Het |
Scg2 |
A |
C |
1: 79,413,398 (GRCm39) |
L442V |
probably damaging |
Het |
Sez6l |
A |
T |
5: 112,610,828 (GRCm39) |
V530E |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,200,489 (GRCm39) |
I4655T |
possibly damaging |
Het |
Zcwpw1 |
T |
C |
5: 137,808,272 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Rsl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00972:Rsl1
|
APN |
13 |
67,329,862 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01120:Rsl1
|
APN |
13 |
67,325,230 (GRCm39) |
splice site |
probably benign |
|
IGL02041:Rsl1
|
APN |
13 |
67,324,612 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02632:Rsl1
|
APN |
13 |
67,330,227 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02645:Rsl1
|
APN |
13 |
67,330,273 (GRCm39) |
missense |
probably benign |
0.00 |
R0097:Rsl1
|
UTSW |
13 |
67,329,966 (GRCm39) |
missense |
probably damaging |
0.99 |
R1644:Rsl1
|
UTSW |
13 |
67,325,229 (GRCm39) |
splice site |
probably benign |
|
R2040:Rsl1
|
UTSW |
13 |
67,330,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R2206:Rsl1
|
UTSW |
13 |
67,330,892 (GRCm39) |
missense |
probably benign |
|
R2207:Rsl1
|
UTSW |
13 |
67,330,892 (GRCm39) |
missense |
probably benign |
|
R4235:Rsl1
|
UTSW |
13 |
67,325,226 (GRCm39) |
critical splice donor site |
probably null |
|
R4995:Rsl1
|
UTSW |
13 |
67,330,313 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5118:Rsl1
|
UTSW |
13 |
67,330,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R6733:Rsl1
|
UTSW |
13 |
67,325,206 (GRCm39) |
missense |
probably benign |
|
R6748:Rsl1
|
UTSW |
13 |
67,330,688 (GRCm39) |
missense |
probably benign |
0.00 |
R7397:Rsl1
|
UTSW |
13 |
67,330,101 (GRCm39) |
missense |
possibly damaging |
0.57 |
R7531:Rsl1
|
UTSW |
13 |
67,324,566 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7729:Rsl1
|
UTSW |
13 |
67,330,284 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7963:Rsl1
|
UTSW |
13 |
67,330,173 (GRCm39) |
missense |
probably damaging |
0.98 |
R9188:Rsl1
|
UTSW |
13 |
67,330,185 (GRCm39) |
missense |
probably benign |
0.06 |
R9310:Rsl1
|
UTSW |
13 |
67,324,510 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9653:Rsl1
|
UTSW |
13 |
67,330,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |