Incidental Mutation 'IGL01966:Rbbp8nl'
| ID |
181554 |
| 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 # |
IGL01966
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
179919439-179931672 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 179922782 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038529]
|
| AlphaFold |
A2ABX0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038529
|
| SMART Domains |
Protein: ENSMUSP00000047237
Gene: ENSMUSG00000038980
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500002C15Rik |
A |
G |
4: 155,818,526 (GRCm39) |
|
probably null |
Het |
| Acer2 |
T |
A |
4: 86,835,815 (GRCm39) |
*230R |
probably null |
Het |
| Adamts12 |
A |
G |
15: 11,258,269 (GRCm39) |
K527E |
probably damaging |
Het |
| Anks1b |
C |
A |
10: 90,730,994 (GRCm39) |
R937S |
probably damaging |
Het |
| C2cd5 |
G |
T |
6: 142,957,767 (GRCm39) |
C989* |
probably null |
Het |
| Calhm5 |
T |
C |
10: 33,972,129 (GRCm39) |
H102R |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,312,121 (GRCm39) |
|
probably benign |
Het |
| Cramp1 |
T |
A |
17: 25,201,917 (GRCm39) |
T522S |
probably benign |
Het |
| Cyp2c70 |
A |
T |
19: 40,142,016 (GRCm39) |
|
probably benign |
Het |
| Elmod1 |
T |
A |
9: 53,828,611 (GRCm39) |
I224F |
probably benign |
Het |
| Emx2 |
T |
A |
19: 59,448,021 (GRCm39) |
I24N |
possibly damaging |
Het |
| Fga |
A |
T |
3: 82,936,461 (GRCm39) |
I86F |
probably damaging |
Het |
| Fig4 |
C |
A |
10: 41,108,098 (GRCm39) |
|
probably null |
Het |
| Gm10234 |
T |
C |
6: 95,299,118 (GRCm39) |
|
probably null |
Het |
| Gm12588 |
A |
T |
11: 121,797,561 (GRCm39) |
I96N |
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,561,486 (GRCm39) |
I788T |
probably damaging |
Het |
| Homer3 |
A |
G |
8: 70,742,807 (GRCm39) |
K173E |
probably damaging |
Het |
| Kansl1l |
A |
G |
1: 66,777,227 (GRCm39) |
V635A |
probably damaging |
Het |
| Kctd3 |
C |
T |
1: 188,724,859 (GRCm39) |
G241R |
probably damaging |
Het |
| Krt8 |
G |
T |
15: 101,906,105 (GRCm39) |
S423R |
probably benign |
Het |
| Lrrc24 |
C |
A |
15: 76,602,511 (GRCm39) |
A125S |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,570,244 (GRCm39) |
S435P |
possibly damaging |
Het |
| Nfkb2 |
G |
A |
19: 46,298,129 (GRCm39) |
G502D |
probably benign |
Het |
| Nlrp6 |
G |
A |
7: 140,505,103 (GRCm39) |
C750Y |
probably damaging |
Het |
| Or8b1b |
A |
T |
9: 38,376,225 (GRCm39) |
D296V |
possibly damaging |
Het |
| Oxsm |
T |
C |
14: 16,242,520 (GRCm38) |
N83S |
probably benign |
Het |
| Paqr3 |
A |
G |
5: 97,247,502 (GRCm39) |
L202P |
probably benign |
Het |
| Pcdh10 |
T |
A |
3: 45,334,733 (GRCm39) |
L349Q |
probably benign |
Het |
| Ptdss2 |
A |
G |
7: 140,715,304 (GRCm39) |
T29A |
possibly damaging |
Het |
| Rc3h2 |
A |
G |
2: 37,272,789 (GRCm39) |
|
probably benign |
Het |
| Ric1 |
A |
T |
19: 29,572,963 (GRCm39) |
Y801F |
probably benign |
Het |
| Sgcz |
A |
T |
8: 38,107,169 (GRCm39) |
S114R |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,202,757 (GRCm39) |
D124G |
probably damaging |
Het |
| Zscan22 |
T |
G |
7: 12,640,398 (GRCm39) |
M214R |
probably benign |
Het |
|
| Other mutations in Rbbp8nl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01802:Rbbp8nl
|
APN |
2 |
179,921,488 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01845:Rbbp8nl
|
APN |
2 |
179,925,104 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2014-05-07 |
Incidental Mutation