Incidental Mutation 'P0016:Dennd6b'
| ID |
7580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd6b
|
| Ensembl Gene |
ENSMUSG00000015377 |
| Gene Name |
DENN domain containing 6B |
| Synonyms |
Fam116b, 1700027J05Rik |
| MMRRC Submission |
038269-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
P0016 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
89066416-89080699 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89071180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 351
(I351V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077978
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078953]
[ENSMUST00000229755]
|
| AlphaFold |
Q9D9V7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078953
AA Change: I351V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000077978
Gene: ENSMUSG00000015377
AA Change: I351V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
31 |
N/A |
INTRINSIC |
|
Pfam:Avl9
|
42 |
181 |
1.1e-8 |
PFAM |
|
Pfam:DENN
|
148 |
344 |
1.2e-8 |
PFAM |
|
Pfam:SPA
|
248 |
358 |
6.7e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184207
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229416
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229755
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229935
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230823
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 85.6%
- 3x: 81.0%
- 10x: 66.8%
- 20x: 50.1%
|
| Validation Efficiency |
96% (97/101) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
A |
T |
5: 138,561,200 (GRCm39) |
L154* |
probably null |
Het |
| 4930432E11Rik |
T |
C |
7: 29,262,537 (GRCm39) |
|
noncoding transcript |
Het |
| Arap3 |
T |
A |
18: 38,117,401 (GRCm39) |
T892S |
probably benign |
Het |
| Ctnnd2 |
G |
A |
15: 30,967,084 (GRCm39) |
V987I |
probably benign |
Het |
| Kif27 |
G |
A |
13: 58,451,266 (GRCm39) |
Q1021* |
probably null |
Het |
| Klb |
G |
A |
5: 65,537,266 (GRCm39) |
W865* |
probably null |
Het |
| Mbd1 |
C |
T |
18: 74,407,609 (GRCm39) |
R130* |
probably null |
Het |
| Mroh7 |
T |
A |
4: 106,565,054 (GRCm39) |
|
probably null |
Het |
| Myo16 |
C |
T |
8: 10,450,596 (GRCm39) |
|
probably benign |
Het |
| Rbm22 |
T |
A |
18: 60,703,842 (GRCm39) |
|
probably benign |
Het |
| Rnaseh2a |
C |
G |
8: 85,686,429 (GRCm39) |
D206H |
probably damaging |
Het |
| Slain1 |
A |
G |
14: 103,923,110 (GRCm39) |
T187A |
probably benign |
Het |
| Slamf6 |
A |
G |
1: 171,764,068 (GRCm39) |
T154A |
probably damaging |
Het |
| Traip |
A |
G |
9: 107,845,855 (GRCm39) |
D316G |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,641,527 (GRCm39) |
D5196G |
probably damaging |
Het |
| Ubr5 |
C |
T |
15: 38,000,822 (GRCm39) |
V1569M |
probably damaging |
Het |
| Zfp750 |
T |
A |
11: 121,404,804 (GRCm39) |
K24* |
probably null |
Het |
| Zfp799 |
T |
C |
17: 33,038,331 (GRCm39) |
E645G |
possibly damaging |
Het |
|
| Other mutations in Dennd6b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02709:Dennd6b
|
APN |
15 |
89,075,125 (GRCm39) |
splice site |
probably benign |
|
|
IGL03109:Dennd6b
|
APN |
15 |
89,069,188 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03133:Dennd6b
|
APN |
15 |
89,072,726 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
PIT4791001:Dennd6b
|
UTSW |
15 |
89,070,955 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0025:Dennd6b
|
UTSW |
15 |
89,070,386 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0025:Dennd6b
|
UTSW |
15 |
89,070,386 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0268:Dennd6b
|
UTSW |
15 |
89,080,432 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0344:Dennd6b
|
UTSW |
15 |
89,080,432 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0391:Dennd6b
|
UTSW |
15 |
89,071,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1453:Dennd6b
|
UTSW |
15 |
89,073,075 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1655:Dennd6b
|
UTSW |
15 |
89,080,543 (GRCm39) |
missense |
unknown |
|
|
R1670:Dennd6b
|
UTSW |
15 |
89,069,540 (GRCm39) |
intron |
probably benign |
|
|
R1765:Dennd6b
|
UTSW |
15 |
89,074,506 (GRCm39) |
nonsense |
probably null |
|
|
R1968:Dennd6b
|
UTSW |
15 |
89,074,544 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3692:Dennd6b
|
UTSW |
15 |
89,071,030 (GRCm39) |
splice site |
probably benign |
|
|
R4344:Dennd6b
|
UTSW |
15 |
89,072,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4736:Dennd6b
|
UTSW |
15 |
89,069,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5030:Dennd6b
|
UTSW |
15 |
89,080,454 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5058:Dennd6b
|
UTSW |
15 |
89,071,553 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5509:Dennd6b
|
UTSW |
15 |
89,069,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6005:Dennd6b
|
UTSW |
15 |
89,072,371 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6160:Dennd6b
|
UTSW |
15 |
89,073,024 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6535:Dennd6b
|
UTSW |
15 |
89,070,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6646:Dennd6b
|
UTSW |
15 |
89,070,387 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7098:Dennd6b
|
UTSW |
15 |
89,072,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7169:Dennd6b
|
UTSW |
15 |
89,073,055 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7381:Dennd6b
|
UTSW |
15 |
89,070,376 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7706:Dennd6b
|
UTSW |
15 |
89,069,447 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8070:Dennd6b
|
UTSW |
15 |
89,069,576 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8803:Dennd6b
|
UTSW |
15 |
89,070,383 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8927:Dennd6b
|
UTSW |
15 |
89,069,780 (GRCm39) |
frame shift |
probably null |
|
|
R9291:Dennd6b
|
UTSW |
15 |
89,071,590 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0063:Dennd6b
|
UTSW |
15 |
89,069,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-10-05 |
Incidental Mutation