Incidental Mutation 'IGL03219:Dynlrb2'
| ID |
413589 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dynlrb2
|
| Ensembl Gene |
ENSMUSG00000034467 |
| Gene Name |
dynein light chain roadblock-type 2 |
| Synonyms |
Dncl2b, 1700009A04Rik, DNLC2B |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
IGL03219
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
117231754-117242654 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 117241635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 60
(I60F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078170]
[ENSMUST00000213007]
|
| AlphaFold |
Q9DAJ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078170
AA Change: I60F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000077301
Gene: ENSMUSG00000034467
AA Change: I60F
| Domain | Start | End | E-Value | Type |
|---|
|
Robl_LC7
|
4 |
92 |
7.29e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213007
AA Change: I60F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Clasp2 |
T |
C |
9: 113,677,545 (GRCm39) |
|
probably benign |
Het |
| Ctss |
C |
T |
3: 95,450,411 (GRCm39) |
R121W |
possibly damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,631,738 (GRCm39) |
M153K |
possibly damaging |
Het |
| Cyp2d34 |
T |
C |
15: 82,502,740 (GRCm39) |
H162R |
probably benign |
Het |
| E4f1 |
C |
T |
17: 24,664,419 (GRCm39) |
|
probably null |
Het |
| Fzd6 |
T |
A |
15: 38,894,971 (GRCm39) |
V379E |
probably damaging |
Het |
| Galnt13 |
T |
C |
2: 54,823,447 (GRCm39) |
V341A |
possibly damaging |
Het |
| Hip1 |
T |
C |
5: 135,485,904 (GRCm39) |
S100G |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,975,169 (GRCm39) |
|
probably benign |
Het |
| Obox3 |
G |
A |
7: 15,359,803 (GRCm39) |
L289F |
probably damaging |
Het |
| Or52s6 |
C |
T |
7: 103,091,745 (GRCm39) |
G195E |
possibly damaging |
Het |
| Or8b50 |
G |
T |
9: 38,518,247 (GRCm39) |
C162F |
probably benign |
Het |
| Pkhd1l1 |
G |
A |
15: 44,460,291 (GRCm39) |
E4167K |
possibly damaging |
Het |
| Pphln1 |
T |
C |
15: 93,363,136 (GRCm39) |
|
probably benign |
Het |
| Ranbp6 |
A |
T |
19: 29,787,680 (GRCm39) |
W891R |
probably damaging |
Het |
| Rgs22 |
A |
T |
15: 36,107,194 (GRCm39) |
L64Q |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,907,702 (GRCm39) |
Y991F |
probably damaging |
Het |
| Senp2 |
T |
A |
16: 21,833,014 (GRCm39) |
|
probably benign |
Het |
| Slc44a3 |
G |
A |
3: 121,257,169 (GRCm39) |
T508I |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,938,855 (GRCm39) |
D731G |
probably benign |
Het |
| Thnsl1 |
T |
A |
2: 21,217,217 (GRCm39) |
C324S |
probably benign |
Het |
| Tnfrsf11b |
A |
T |
15: 54,117,574 (GRCm39) |
L227* |
probably null |
Het |
| Tulp4 |
T |
C |
17: 6,189,285 (GRCm39) |
C36R |
probably damaging |
Het |
|
| Other mutations in Dynlrb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00836:Dynlrb2
|
APN |
8 |
117,241,572 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02150:Dynlrb2
|
APN |
8 |
117,242,449 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0938:Dynlrb2
|
UTSW |
8 |
117,241,707 (GRCm39) |
splice site |
probably null |
|
|
R2038:Dynlrb2
|
UTSW |
8 |
117,241,549 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5120:Dynlrb2
|
UTSW |
8 |
117,242,437 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6154:Dynlrb2
|
UTSW |
8 |
117,242,428 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6807:Dynlrb2
|
UTSW |
8 |
117,234,299 (GRCm39) |
missense |
probably benign |
|
|
R7365:Dynlrb2
|
UTSW |
8 |
117,241,696 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7465:Dynlrb2
|
UTSW |
8 |
117,241,696 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8096:Dynlrb2
|
UTSW |
8 |
117,234,256 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
| Posted On |
2016-08-02 |
Incidental Mutation