Incidental Mutation 'V7582:Rbbp8nl'
| ID |
152591 |
| Institutional Source |
Beutler Lab
|
| 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 # |
V7582 ()
of strain
stinger
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
179919439-179931672 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 179920001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 558
(T558S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038529]
[ENSMUST00000108891]
|
| AlphaFold |
A2ABX0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038529
AA Change: T558S
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000047237
Gene: ENSMUSG00000038980
AA Change: T558S
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108891
|
| SMART Domains |
Protein: ENSMUSP00000104519
Gene: ENSMUSG00000038990
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
276 |
N/A |
INTRINSIC |
|
CYCLIN
|
365 |
452 |
1.55e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126688
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135301
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136706
|
| Meta Mutation Damage Score |
0.1232 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530002B09Rik |
A |
T |
4: 122,595,050 (GRCm39) |
H102L |
possibly damaging |
Het |
| Ahcy |
G |
A |
2: 154,906,841 (GRCm39) |
R151* |
probably null |
Het |
| Atp6v1h |
A |
G |
1: 5,194,666 (GRCm39) |
T282A |
possibly damaging |
Het |
| Cdc42bpb |
C |
T |
12: 111,262,825 (GRCm39) |
G1501S |
probably benign |
Het |
| Dnajc22 |
T |
A |
15: 98,999,363 (GRCm39) |
Y183N |
probably damaging |
Het |
| Dpyd |
C |
T |
3: 118,690,775 (GRCm39) |
Q295* |
probably null |
Het |
| Dync2i1 |
A |
C |
12: 116,175,460 (GRCm39) |
S906A |
possibly damaging |
Het |
| Erv3 |
T |
C |
2: 131,697,846 (GRCm39) |
H171R |
possibly damaging |
Het |
| Fam221b |
T |
C |
4: 43,665,865 (GRCm39) |
T249A |
probably benign |
Het |
| Fbrsl1 |
C |
T |
5: 110,527,292 (GRCm39) |
A129T |
possibly damaging |
Het |
| Fcgr1 |
T |
C |
3: 96,191,592 (GRCm39) |
*405W |
probably null |
Het |
| Gm4787 |
G |
A |
12: 81,424,341 (GRCm39) |
Q606* |
probably null |
Het |
| Hira |
G |
A |
16: 18,713,571 (GRCm39) |
A29T |
probably damaging |
Het |
| Izumo4 |
A |
T |
10: 80,539,725 (GRCm39) |
T155S |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,780,315 (GRCm39) |
I396V |
probably benign |
Het |
| Lpar5 |
C |
A |
6: 125,058,690 (GRCm39) |
A137E |
possibly damaging |
Het |
| Lrp4 |
C |
T |
2: 91,318,863 (GRCm39) |
S900L |
possibly damaging |
Het |
| Med20 |
G |
A |
17: 47,929,757 (GRCm39) |
V65M |
probably damaging |
Het |
| Myrfl |
T |
C |
10: 116,697,435 (GRCm39) |
T30A |
probably damaging |
Het |
| Or10j7 |
G |
T |
1: 173,011,531 (GRCm39) |
L157I |
probably benign |
Het |
| Otop3 |
T |
A |
11: 115,235,664 (GRCm39) |
L432Q |
probably damaging |
Het |
| Papln |
C |
T |
12: 83,825,608 (GRCm39) |
R608C |
possibly damaging |
Het |
| Pelp1 |
T |
A |
11: 70,288,976 (GRCm39) |
T257S |
probably damaging |
Het |
| Pik3cd |
A |
C |
4: 149,741,776 (GRCm39) |
L390R |
probably damaging |
Het |
| Plekhb1 |
T |
C |
7: 100,303,825 (GRCm39) |
T112A |
probably benign |
Het |
| Rundc3b |
TGCCGCCGCCGCCGCCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCGCCGC |
5: 8,672,549 (GRCm39) |
|
probably benign |
Het |
| Slc30a4 |
T |
A |
2: 122,531,458 (GRCm39) |
M136L |
probably benign |
Het |
| Spaca1 |
T |
C |
4: 34,039,311 (GRCm39) |
E192G |
probably damaging |
Het |
| Thbd |
A |
T |
2: 148,249,110 (GRCm39) |
Y253N |
probably benign |
Het |
| Tiam1 |
C |
T |
16: 89,662,159 (GRCm39) |
R653H |
probably damaging |
Het |
| Tnrc6c |
G |
A |
11: 117,614,152 (GRCm39) |
R770H |
probably damaging |
Het |
| Toe1 |
A |
T |
4: 116,663,308 (GRCm39) |
N56K |
probably damaging |
Het |
| Tprkb |
A |
G |
6: 85,905,764 (GRCm39) |
K150E |
probably damaging |
Het |
| Zfp292 |
C |
T |
4: 34,806,783 (GRCm39) |
C2087Y |
possibly damaging |
Het |
| Zfp933 |
G |
A |
4: 147,910,927 (GRCm39) |
A223V |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTATCAGGCTCCAACTGGAACCC -3'
(R):5'- AGCCCCTCTATGTCCTCATCTGAAG -3'
Sequencing Primer
(F):5'- GGAACCCAGATGCTATTCTCCAG -3'
(R):5'- GTCCTCATCTGAAGAGTCATTATTC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation