Incidental Mutation 'R6733:Rsl1'
| ID |
530158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rsl1
|
| Ensembl Gene |
ENSMUSG00000058900 |
| Gene Name |
regulator of sex limited protein 1 |
| Synonyms |
rslcan-9 |
| MMRRC Submission |
044851-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R6733 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
67321246-67332108 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67325206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 81
(T81A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021997]
[ENSMUST00000225334]
|
| AlphaFold |
Q7M6Y1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021997
AA Change: T81A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021997
Gene: ENSMUSG00000058900
AA Change: T81A
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
C |
T |
17: 14,043,615 (GRCm39) |
H358Y |
probably benign |
Het |
| Aoc1l2 |
T |
C |
6: 48,907,464 (GRCm39) |
S155P |
probably damaging |
Het |
| Ccdc125 |
T |
A |
13: 100,830,995 (GRCm39) |
M394K |
probably benign |
Het |
| Cfd |
C |
A |
10: 79,727,636 (GRCm39) |
H103Q |
probably damaging |
Het |
| Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
| Dedd2 |
T |
C |
7: 24,903,332 (GRCm39) |
E209G |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,522,197 (GRCm39) |
S3999P |
probably benign |
Het |
| Fer1l5 |
T |
C |
1: 36,447,753 (GRCm39) |
|
probably null |
Het |
| H6pd |
A |
T |
4: 150,069,578 (GRCm39) |
|
probably null |
Het |
| Il25 |
T |
C |
14: 55,170,490 (GRCm39) |
I21T |
probably benign |
Het |
| Kmt2c |
C |
T |
5: 25,614,291 (GRCm39) |
S143N |
probably damaging |
Het |
| Marveld3 |
T |
C |
8: 110,688,681 (GRCm39) |
D20G |
possibly damaging |
Het |
| Msl1 |
A |
G |
11: 98,690,882 (GRCm39) |
E122G |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,919,421 (GRCm39) |
V6861E |
probably damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,605 (GRCm39) |
C180S |
probably damaging |
Het |
| Phc1 |
A |
T |
6: 122,313,845 (GRCm39) |
M29K |
possibly damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,375,126 (GRCm39) |
|
probably null |
Het |
| Prl5a1 |
G |
T |
13: 28,333,919 (GRCm39) |
V141F |
possibly damaging |
Het |
| Psg20 |
A |
T |
7: 18,408,547 (GRCm39) |
V391D |
probably damaging |
Het |
| Ptprh |
T |
C |
7: 4,606,043 (GRCm39) |
|
probably null |
Het |
| Rasa3 |
T |
C |
8: 13,630,037 (GRCm39) |
E580G |
possibly damaging |
Het |
| Ror1 |
T |
C |
4: 100,283,252 (GRCm39) |
V439A |
probably benign |
Het |
| Sgpp1 |
G |
C |
12: 75,782,243 (GRCm39) |
P32R |
probably benign |
Het |
| Slc22a8 |
T |
C |
19: 8,586,656 (GRCm39) |
L389P |
probably benign |
Het |
| Slc6a11 |
A |
G |
6: 114,111,859 (GRCm39) |
Y142C |
probably damaging |
Het |
| Syt9 |
C |
T |
7: 107,024,503 (GRCm39) |
T132I |
probably damaging |
Het |
| Thop1 |
T |
A |
10: 80,917,246 (GRCm39) |
I583N |
probably damaging |
Het |
| Tom1l1 |
A |
G |
11: 90,575,886 (GRCm39) |
|
probably null |
Het |
| Unk |
A |
G |
11: 115,941,581 (GRCm39) |
D276G |
probably damaging |
Het |
| Zfp942 |
C |
A |
17: 22,147,733 (GRCm39) |
E299* |
probably null |
Het |
| Zkscan6 |
A |
G |
11: 65,719,461 (GRCm39) |
T494A |
probably damaging |
Het |
| Zscan25 |
T |
A |
5: 145,227,723 (GRCm39) |
|
probably null |
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 |
|
IGL02316:Rsl1
|
APN |
13 |
67,325,120 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGAAGGAACTAATTGTCTGCAG -3'
(R):5'- ACACAGGGCACACTGTTTG -3'
Sequencing Primer
(F):5'- TGTTCTCCAACCAGGTCT -3'
(R):5'- GGCACACTGTTTGCAAAATATAAATC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation