Incidental Mutation 'IGL01802:Rbbp8nl'
ID |
155556 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rbbp8nl
|
Ensembl Gene |
ENSMUSG00000038980 |
Gene Name |
RBBP8 N-terminal like |
Synonyms |
BC066135 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
IGL01802
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
179919439-179931672 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 179921488 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 299
(S299G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047237
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038529]
|
AlphaFold |
A2ABX0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038529
AA Change: S299G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000047237 Gene: ENSMUSG00000038980 AA Change: S299G
Domain | Start | End | E-Value | Type |
Pfam:CtIP_N
|
4 |
123 |
5.6e-56 |
PFAM |
low complexity region
|
143 |
154 |
N/A |
INTRINSIC |
low complexity region
|
157 |
172 |
N/A |
INTRINSIC |
low complexity region
|
237 |
250 |
N/A |
INTRINSIC |
low complexity region
|
282 |
296 |
N/A |
INTRINSIC |
low complexity region
|
352 |
361 |
N/A |
INTRINSIC |
low complexity region
|
365 |
379 |
N/A |
INTRINSIC |
low complexity region
|
585 |
590 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
C |
11: 9,242,438 (GRCm39) |
M1434L |
probably benign |
Het |
Acta2 |
T |
A |
19: 34,220,836 (GRCm39) |
I291F |
possibly damaging |
Het |
Arhgap10 |
A |
G |
8: 78,146,714 (GRCm39) |
I230T |
probably damaging |
Het |
Ark2c |
A |
T |
18: 77,550,610 (GRCm39) |
L106Q |
probably damaging |
Het |
Copb1 |
A |
C |
7: 113,826,011 (GRCm39) |
S658A |
probably benign |
Het |
Crtc3 |
A |
T |
7: 80,254,116 (GRCm39) |
C244* |
probably null |
Het |
Cyp4a14 |
G |
A |
4: 115,352,134 (GRCm39) |
R93* |
probably null |
Het |
Dclk2 |
A |
G |
3: 86,706,334 (GRCm39) |
F586L |
probably damaging |
Het |
Dmtn |
G |
T |
14: 70,842,259 (GRCm39) |
F358L |
probably damaging |
Het |
Enam |
A |
T |
5: 88,651,533 (GRCm39) |
H1014L |
possibly damaging |
Het |
Ercc6 |
A |
G |
14: 32,284,531 (GRCm39) |
T765A |
probably damaging |
Het |
Gtf3c4 |
T |
C |
2: 28,724,092 (GRCm39) |
K547E |
probably damaging |
Het |
Hdc |
G |
T |
2: 126,445,814 (GRCm39) |
A230D |
probably benign |
Het |
Hipk3 |
A |
T |
2: 104,302,198 (GRCm39) |
|
probably benign |
Het |
Kidins220 |
A |
G |
12: 25,044,999 (GRCm39) |
I264M |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 41,401,494 (GRCm39) |
V387I |
probably benign |
Het |
Mmp8 |
T |
G |
9: 7,567,441 (GRCm39) |
F434V |
probably benign |
Het |
Nr3c2 |
C |
A |
8: 77,635,224 (GRCm39) |
Y108* |
probably null |
Het |
Or4k5 |
T |
G |
14: 50,386,173 (GRCm39) |
S53R |
probably benign |
Het |
Or5b119 |
T |
C |
19: 13,456,729 (GRCm39) |
M278V |
probably benign |
Het |
Pnpt1 |
A |
T |
11: 29,104,306 (GRCm39) |
D560V |
probably damaging |
Het |
Slc9a4 |
A |
T |
1: 40,646,958 (GRCm39) |
N484I |
probably damaging |
Het |
Sncaip |
C |
T |
18: 53,002,109 (GRCm39) |
S210F |
probably damaging |
Het |
Tiam1 |
G |
T |
16: 89,695,260 (GRCm39) |
Q66K |
possibly damaging |
Het |
Ttc39a |
C |
A |
4: 109,290,281 (GRCm39) |
Y330* |
probably null |
Het |
Ush2a |
T |
G |
1: 188,169,154 (GRCm39) |
D1098E |
probably damaging |
Het |
Vmn2r103 |
A |
G |
17: 20,019,470 (GRCm39) |
E518G |
probably benign |
Het |
|
Other mutations in Rbbp8nl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01845:Rbbp8nl
|
APN |
2 |
179,925,104 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01966:Rbbp8nl
|
APN |
2 |
179,922,782 (GRCm39) |
splice site |
probably benign |
|
IGL02217:Rbbp8nl
|
APN |
2 |
179,919,981 (GRCm39) |
unclassified |
probably benign |
|
IGL02500:Rbbp8nl
|
APN |
2 |
179,921,122 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL02623:Rbbp8nl
|
APN |
2 |
179,923,236 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02634:Rbbp8nl
|
APN |
2 |
179,922,688 (GRCm39) |
missense |
probably benign |
0.00 |
F5770:Rbbp8nl
|
UTSW |
2 |
179,920,001 (GRCm39) |
missense |
probably benign |
0.03 |
R0380:Rbbp8nl
|
UTSW |
2 |
179,923,512 (GRCm39) |
missense |
probably damaging |
0.96 |
R1773:Rbbp8nl
|
UTSW |
2 |
179,922,987 (GRCm39) |
missense |
probably benign |
0.00 |
R1858:Rbbp8nl
|
UTSW |
2 |
179,924,006 (GRCm39) |
splice site |
probably benign |
|
R1901:Rbbp8nl
|
UTSW |
2 |
179,925,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R1962:Rbbp8nl
|
UTSW |
2 |
179,922,667 (GRCm39) |
missense |
probably benign |
0.03 |
R2423:Rbbp8nl
|
UTSW |
2 |
179,922,764 (GRCm39) |
missense |
probably damaging |
0.98 |
R2495:Rbbp8nl
|
UTSW |
2 |
179,920,895 (GRCm39) |
missense |
probably null |
0.31 |
R3738:Rbbp8nl
|
UTSW |
2 |
179,923,041 (GRCm39) |
missense |
probably benign |
0.37 |
R4460:Rbbp8nl
|
UTSW |
2 |
179,922,764 (GRCm39) |
missense |
probably benign |
0.41 |
R4502:Rbbp8nl
|
UTSW |
2 |
179,920,989 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5573:Rbbp8nl
|
UTSW |
2 |
179,921,586 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5699:Rbbp8nl
|
UTSW |
2 |
179,920,461 (GRCm39) |
missense |
probably damaging |
0.98 |
R6242:Rbbp8nl
|
UTSW |
2 |
179,922,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R6269:Rbbp8nl
|
UTSW |
2 |
179,923,305 (GRCm39) |
nonsense |
probably null |
|
R6586:Rbbp8nl
|
UTSW |
2 |
179,922,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R6875:Rbbp8nl
|
UTSW |
2 |
179,921,019 (GRCm39) |
missense |
probably benign |
0.00 |
R8055:Rbbp8nl
|
UTSW |
2 |
179,920,001 (GRCm39) |
missense |
probably benign |
0.00 |
R8344:Rbbp8nl
|
UTSW |
2 |
179,921,506 (GRCm39) |
missense |
probably benign |
0.18 |
R8944:Rbbp8nl
|
UTSW |
2 |
179,919,769 (GRCm39) |
nonsense |
probably null |
|
R9279:Rbbp8nl
|
UTSW |
2 |
179,920,894 (GRCm39) |
critical splice donor site |
probably null |
|
R9352:Rbbp8nl
|
UTSW |
2 |
179,921,053 (GRCm39) |
missense |
probably benign |
0.00 |
V7581:Rbbp8nl
|
UTSW |
2 |
179,920,001 (GRCm39) |
missense |
probably benign |
0.03 |
V7582:Rbbp8nl
|
UTSW |
2 |
179,920,001 (GRCm39) |
missense |
probably benign |
0.03 |
|
Posted On |
2014-02-04 |