Incidental Mutation 'R6535:Dennd6b'
| ID |
520357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd6b
|
| Ensembl Gene |
ENSMUSG00000015377 |
| Gene Name |
DENN domain containing 6B |
| Synonyms |
Fam116b, 1700027J05Rik |
| MMRRC Submission |
044661-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R6535 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
89066416-89080699 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89070570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 400
(L400P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077978
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078953]
[ENSMUST00000229755]
|
| AlphaFold |
Q9D9V7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078953
AA Change: L400P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077978
Gene: ENSMUSG00000015377
AA Change: L400P
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
G |
A |
17: 43,750,920 (GRCm39) |
S495N |
probably benign |
Het |
| Ank3 |
G |
T |
10: 69,713,684 (GRCm39) |
A448S |
probably damaging |
Het |
| Apobec3 |
A |
G |
15: 79,781,950 (GRCm39) |
*47W |
probably null |
Het |
| B4gat1 |
T |
C |
19: 5,089,558 (GRCm39) |
V185A |
possibly damaging |
Het |
| Cers1 |
T |
A |
8: 70,782,804 (GRCm39) |
V58D |
probably damaging |
Het |
| Chrm1 |
T |
A |
19: 8,656,437 (GRCm39) |
Y381N |
possibly damaging |
Het |
| Cpne6 |
A |
T |
14: 55,751,122 (GRCm39) |
E177V |
probably benign |
Het |
| Cpt1a |
T |
A |
19: 3,415,788 (GRCm39) |
|
probably null |
Het |
| Ctsq |
A |
T |
13: 61,183,140 (GRCm39) |
I334N |
probably damaging |
Het |
| Fam135b |
A |
G |
15: 71,493,924 (GRCm39) |
S2P |
probably damaging |
Het |
| Hip1 |
T |
C |
5: 135,457,351 (GRCm39) |
|
probably null |
Het |
| Lama2 |
A |
C |
10: 26,980,127 (GRCm39) |
L1896R |
probably damaging |
Het |
| Ly6g6g |
T |
C |
15: 74,644,074 (GRCm39) |
S81G |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,365,728 (GRCm39) |
V3011D |
possibly damaging |
Het |
| Macrod1 |
A |
G |
19: 7,034,515 (GRCm39) |
D86G |
probably damaging |
Het |
| Mettl8 |
G |
T |
2: 70,803,733 (GRCm39) |
H185N |
possibly damaging |
Het |
| Mipol1 |
A |
C |
12: 57,352,886 (GRCm39) |
Q75P |
possibly damaging |
Het |
| Pi4ka |
C |
T |
16: 17,118,900 (GRCm39) |
V125M |
probably damaging |
Het |
| Pole |
A |
C |
5: 110,472,673 (GRCm39) |
Y1618S |
probably damaging |
Het |
| Prrc2a |
A |
G |
17: 35,381,241 (GRCm39) |
V21A |
unknown |
Het |
| Rhbdl1 |
A |
T |
17: 26,054,799 (GRCm39) |
Y111* |
probably null |
Het |
| Sbk3 |
A |
C |
7: 4,972,840 (GRCm39) |
M110R |
possibly damaging |
Het |
| Scn8a |
G |
A |
15: 100,857,588 (GRCm39) |
|
probably benign |
Het |
| Tcstv2c |
T |
C |
13: 120,616,190 (GRCm39) |
S10P |
probably damaging |
Het |
| Tshz3 |
T |
C |
7: 36,468,214 (GRCm39) |
S68P |
probably damaging |
Het |
| Vmn1r88 |
C |
T |
7: 12,912,112 (GRCm39) |
T156I |
probably benign |
Het |
| Wrn |
T |
C |
8: 33,826,131 (GRCm39) |
H177R |
probably 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 |
|
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGAGCTCTAGAAGGTGCC -3'
(R):5'- CTTTAGCAGGTCCCTTGAGTC -3'
Sequencing Primer
(F):5'- AGGTGCCGCCTCAGCAG -3'
(R):5'- CAGGTCCCTTGAGTCTCAGGATG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation