Incidental Mutation 'R0025:Dennd6b'
| ID |
15118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd6b
|
| Ensembl Gene |
ENSMUSG00000015377 |
| Gene Name |
DENN domain containing 6B |
| Synonyms |
Fam116b, 1700027J05Rik |
| MMRRC Submission |
038320-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R0025 (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 89070386 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 428
(I428V)
|
| 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: I428V
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000077978
Gene: ENSMUSG00000015377
AA Change: I428V
| 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 |
0.1367 |
| Coding Region Coverage |
- 1x: 75.6%
- 3x: 62.5%
- 10x: 33.3%
- 20x: 15.9%
|
| Validation Efficiency |
95% (69/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm1 |
A |
T |
7: 119,257,538 (GRCm39) |
T435S |
probably damaging |
Het |
| Agtpbp1 |
G |
A |
13: 59,648,014 (GRCm39) |
T602I |
probably benign |
Het |
| Ahnak2 |
T |
A |
12: 112,749,154 (GRCm39) |
D231V |
probably damaging |
Het |
| Ampd3 |
G |
A |
7: 110,392,876 (GRCm39) |
D215N |
probably benign |
Het |
| Ate1 |
A |
G |
7: 130,105,523 (GRCm39) |
S332P |
probably damaging |
Het |
| Ces1f |
T |
C |
8: 93,998,513 (GRCm39) |
E161G |
probably benign |
Het |
| Ces2g |
A |
G |
8: 105,692,628 (GRCm39) |
|
probably benign |
Het |
| Cntnap4 |
T |
G |
8: 113,529,796 (GRCm39) |
L668R |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Csf1 |
A |
G |
3: 107,655,960 (GRCm39) |
V245A |
probably benign |
Het |
| Ctss |
A |
G |
3: 95,457,448 (GRCm39) |
Y302C |
probably damaging |
Het |
| Dbt |
C |
T |
3: 116,328,432 (GRCm39) |
H158Y |
probably benign |
Het |
| Dnah9 |
G |
A |
11: 65,860,781 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
G |
T |
9: 106,790,467 (GRCm39) |
Q1419K |
possibly damaging |
Het |
| Enpp6 |
A |
G |
8: 47,519,035 (GRCm39) |
K268E |
probably damaging |
Het |
| Eps15l1 |
T |
G |
8: 73,135,341 (GRCm39) |
|
probably benign |
Het |
| Gm10800 |
C |
A |
2: 98,496,925 (GRCm39) |
M209I |
probably benign |
Het |
| Herc3 |
C |
T |
6: 58,851,293 (GRCm39) |
P514L |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,263,287 (GRCm39) |
D160G |
probably damaging |
Het |
| Mbd4 |
A |
G |
6: 115,821,529 (GRCm39) |
|
probably null |
Het |
| Mink1 |
T |
C |
11: 70,503,868 (GRCm39) |
W1263R |
probably damaging |
Het |
| Nlrp14 |
A |
T |
7: 106,780,465 (GRCm39) |
|
probably benign |
Het |
| Osbp |
T |
C |
19: 11,961,322 (GRCm39) |
Y454H |
probably damaging |
Het |
| Pak5 |
T |
C |
2: 135,942,704 (GRCm39) |
K479E |
possibly damaging |
Het |
| Pard3 |
C |
A |
8: 127,888,058 (GRCm39) |
D73E |
probably damaging |
Het |
| Pmp22 |
A |
T |
11: 63,049,076 (GRCm39) |
|
probably null |
Het |
| Scn4a |
C |
T |
11: 106,215,386 (GRCm39) |
V1197I |
probably benign |
Het |
| Slc36a2 |
A |
G |
11: 55,053,621 (GRCm39) |
L339P |
probably damaging |
Het |
| Smg1 |
G |
A |
7: 117,811,666 (GRCm39) |
T104I |
possibly damaging |
Het |
| Stx18 |
T |
A |
5: 38,249,908 (GRCm39) |
Y74N |
probably damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,638,492 (GRCm39) |
H1102Q |
probably damaging |
Het |
| Tom1l2 |
T |
C |
11: 60,120,960 (GRCm39) |
K450E |
probably damaging |
Het |
| Tpo |
T |
C |
12: 30,150,389 (GRCm39) |
Q497R |
probably benign |
Het |
| Tsc2 |
A |
G |
17: 24,849,978 (GRCm39) |
|
probably benign |
Het |
| Tut7 |
A |
T |
13: 59,953,142 (GRCm39) |
D99E |
probably benign |
Het |
| Vit |
G |
A |
17: 78,907,264 (GRCm39) |
G229R |
probably benign |
Het |
| Vwf |
T |
A |
6: 125,659,775 (GRCm39) |
I2658N |
probably benign |
Het |
| Wdr36 |
T |
A |
18: 32,992,360 (GRCm39) |
D632E |
probably damaging |
Het |
| Zfp654 |
A |
G |
16: 64,605,181 (GRCm39) |
V466A |
probably benign |
Het |
| Zfp941 |
T |
C |
7: 140,393,185 (GRCm39) |
D58G |
probably benign |
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 |
|
|
P0016:Dennd6b
|
UTSW |
15 |
89,071,180 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
2012-12-12 |
Incidental Mutation