Incidental Mutation 'R3109:Rslcan18'
ID |
263712 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rslcan18
|
Ensembl Gene |
ENSMUSG00000074824 |
Gene Name |
regulator of sex-limitation candidate 18 |
Synonyms |
|
MMRRC Submission |
040583-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.153)
|
Stock # |
R3109 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
67244677-67262092 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 67246671 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 314
(E314K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089111
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091526]
[ENSMUST00000109743]
[ENSMUST00000186303]
|
AlphaFold |
Q7M6X5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091526
AA Change: E314K
PolyPhen 2
Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000089111 Gene: ENSMUSG00000074824 AA Change: E314K
Domain | Start | End | E-Value | Type |
KRAB
|
96 |
156 |
5.31e-28 |
SMART |
ZnF_C2H2
|
171 |
193 |
4.24e-4 |
SMART |
ZnF_C2H2
|
199 |
221 |
1.56e-2 |
SMART |
ZnF_C2H2
|
227 |
249 |
1.82e-3 |
SMART |
ZnF_C2H2
|
255 |
277 |
1.82e-3 |
SMART |
ZnF_C2H2
|
283 |
305 |
3.26e-5 |
SMART |
ZnF_C2H2
|
311 |
333 |
1.82e-3 |
SMART |
ZnF_C2H2
|
339 |
361 |
1.26e-2 |
SMART |
ZnF_C2H2
|
367 |
389 |
2.12e-4 |
SMART |
ZnF_C2H2
|
395 |
417 |
4.87e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109743
|
SMART Domains |
Protein: ENSMUSP00000105365 Gene: ENSMUSG00000058883
Domain | Start | End | E-Value | Type |
KRAB
|
17 |
77 |
3.75e-28 |
SMART |
ZnF_C2H2
|
93 |
115 |
1.12e-3 |
SMART |
ZnF_C2H2
|
121 |
143 |
5.14e-3 |
SMART |
ZnF_C2H2
|
149 |
171 |
1.1e-2 |
SMART |
ZnF_C2H2
|
177 |
199 |
6.78e-3 |
SMART |
ZnF_C2H2
|
205 |
227 |
1.47e-3 |
SMART |
ZnF_C2H2
|
233 |
255 |
7.78e-3 |
SMART |
ZnF_C2H2
|
261 |
283 |
1.95e-3 |
SMART |
ZnF_C2H2
|
289 |
311 |
5.21e-4 |
SMART |
ZnF_C2H2
|
317 |
339 |
7.9e-4 |
SMART |
ZnF_C2H2
|
345 |
367 |
8.34e-3 |
SMART |
ZnF_C2H2
|
373 |
395 |
1.3e-4 |
SMART |
ZnF_C2H2
|
401 |
423 |
4.87e-4 |
SMART |
ZnF_C2H2
|
429 |
451 |
5.14e-3 |
SMART |
ZnF_C2H2
|
457 |
479 |
1.2e-3 |
SMART |
ZnF_C2H2
|
485 |
507 |
1.72e-4 |
SMART |
ZnF_C2H2
|
513 |
535 |
1.6e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185856
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185954
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186303
AA Change: E190K
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000140296 Gene: ENSMUSG00000100235 AA Change: E190K
Domain | Start | End | E-Value | Type |
KRAB
|
1 |
32 |
9.7e-3 |
SMART |
ZnF_C2H2
|
47 |
69 |
1.8e-6 |
SMART |
ZnF_C2H2
|
75 |
97 |
6.7e-5 |
SMART |
ZnF_C2H2
|
103 |
125 |
7.6e-6 |
SMART |
ZnF_C2H2
|
131 |
153 |
7.6e-6 |
SMART |
ZnF_C2H2
|
159 |
181 |
1.4e-7 |
SMART |
ZnF_C2H2
|
187 |
209 |
7.6e-6 |
SMART |
ZnF_C2H2
|
215 |
237 |
5.5e-5 |
SMART |
ZnF_C2H2
|
243 |
265 |
8.9e-7 |
SMART |
ZnF_C2H2
|
271 |
293 |
2e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225558
|
Meta Mutation Damage Score |
0.0801 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (33/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
A |
G |
2: 152,284,376 (GRCm39) |
E323G |
probably damaging |
Het |
Adamts20 |
T |
C |
15: 94,243,785 (GRCm39) |
|
probably benign |
Het |
Alkbh3 |
T |
C |
2: 93,835,108 (GRCm39) |
E80G |
probably damaging |
Het |
Amfr |
T |
C |
8: 94,726,934 (GRCm39) |
Y93C |
probably damaging |
Het |
Arid2 |
T |
C |
15: 96,254,627 (GRCm39) |
Y158H |
probably damaging |
Het |
Camk1g |
T |
C |
1: 193,037,301 (GRCm39) |
Y133C |
probably damaging |
Het |
Cnnm1 |
T |
C |
19: 43,430,000 (GRCm39) |
C373R |
probably damaging |
Het |
Cnot1 |
A |
G |
8: 96,462,377 (GRCm39) |
V1691A |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,367,158 (GRCm39) |
S1571G |
possibly damaging |
Het |
Dclk2 |
G |
A |
3: 86,827,342 (GRCm39) |
P46S |
probably damaging |
Het |
Dennd1b |
G |
A |
1: 138,969,654 (GRCm39) |
|
probably benign |
Het |
Dmrt2 |
C |
A |
19: 25,655,055 (GRCm39) |
T218N |
probably benign |
Het |
Drd4 |
T |
A |
7: 140,872,195 (GRCm39) |
V82E |
possibly damaging |
Het |
Fat1 |
G |
A |
8: 45,498,210 (GRCm39) |
|
probably null |
Het |
Fyn |
G |
C |
10: 39,427,451 (GRCm39) |
D445H |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,925,586 (GRCm39) |
D56G |
probably benign |
Het |
Igkv11-125 |
T |
C |
6: 67,890,855 (GRCm39) |
F58L |
possibly damaging |
Het |
Klhdc4 |
A |
C |
8: 122,548,073 (GRCm39) |
H72Q |
probably damaging |
Het |
Kmt2c |
A |
G |
5: 25,480,733 (GRCm39) |
Y1459H |
probably damaging |
Het |
Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
Muc5b |
C |
T |
7: 141,412,496 (GRCm39) |
T1814M |
unknown |
Het |
Ntrk3 |
C |
T |
7: 78,110,263 (GRCm39) |
V324M |
probably benign |
Het |
Or52s1b |
T |
A |
7: 102,822,293 (GRCm39) |
M184L |
probably damaging |
Het |
Per2 |
A |
T |
1: 91,373,297 (GRCm39) |
C164S |
probably benign |
Het |
Ptprn2 |
A |
G |
12: 116,839,800 (GRCm39) |
D441G |
probably benign |
Het |
Rbl2 |
T |
A |
8: 91,828,863 (GRCm39) |
I588N |
probably benign |
Het |
Ubr3 |
A |
T |
2: 69,819,184 (GRCm39) |
T1325S |
probably damaging |
Het |
Unc45a |
A |
G |
7: 79,981,294 (GRCm39) |
|
probably benign |
Het |
Vmn1r175 |
A |
G |
7: 23,508,393 (GRCm39) |
V78A |
probably benign |
Het |
|
Other mutations in Rslcan18 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01520:Rslcan18
|
APN |
13 |
67,250,172 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01760:Rslcan18
|
APN |
13 |
67,262,015 (GRCm39) |
missense |
probably benign |
0.04 |
R0003:Rslcan18
|
UTSW |
13 |
67,246,533 (GRCm39) |
missense |
probably benign |
0.01 |
R0333:Rslcan18
|
UTSW |
13 |
67,246,686 (GRCm39) |
missense |
probably damaging |
0.99 |
R0505:Rslcan18
|
UTSW |
13 |
67,250,183 (GRCm39) |
missense |
probably benign |
0.31 |
R0525:Rslcan18
|
UTSW |
13 |
67,260,322 (GRCm39) |
missense |
probably benign |
0.03 |
R0898:Rslcan18
|
UTSW |
13 |
67,246,880 (GRCm39) |
missense |
probably benign |
0.02 |
R1449:Rslcan18
|
UTSW |
13 |
67,250,164 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1511:Rslcan18
|
UTSW |
13 |
67,247,016 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1575:Rslcan18
|
UTSW |
13 |
67,256,121 (GRCm39) |
intron |
probably benign |
|
R1973:Rslcan18
|
UTSW |
13 |
67,256,087 (GRCm39) |
intron |
probably benign |
|
R4707:Rslcan18
|
UTSW |
13 |
67,246,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R5277:Rslcan18
|
UTSW |
13 |
67,246,498 (GRCm39) |
missense |
probably benign |
0.03 |
R8887:Rslcan18
|
UTSW |
13 |
67,246,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R9472:Rslcan18
|
UTSW |
13 |
67,260,296 (GRCm39) |
missense |
probably benign |
0.11 |
R9475:Rslcan18
|
UTSW |
13 |
67,250,128 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTTGTCTGAATAGTAAAGCACTCT -3'
(R):5'- GACAAATGTCCCTAAGCTTTTCTT -3'
Sequencing Primer
(F):5'- ATAGGGCCTCTCCTCAGAATG -3'
(R):5'- GTGACATATGCGACAAGGCCTTTTC -3'
|
Posted On |
2015-02-05 |