Incidental Mutation 'R3692:Dennd6b'
| ID |
268838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd6b
|
| Ensembl Gene |
ENSMUSG00000015377 |
| Gene Name |
DENN domain containing 6B |
| Synonyms |
Fam116b, 1700027J05Rik |
| MMRRC Submission |
040687-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R3692 (G1)
|
| Quality Score |
212 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
89066416-89080699 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 89071030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078953]
[ENSMUST00000229755]
|
| AlphaFold |
Q9D9V7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078953
|
| SMART Domains |
Protein: ENSMUSP00000077978
Gene: ENSMUSG00000015377
| 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: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1a |
T |
C |
5: 121,657,385 (GRCm39) |
D636G |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,672,719 (GRCm39) |
V2218A |
possibly damaging |
Het |
| Ano5 |
T |
A |
7: 51,240,327 (GRCm39) |
Y752N |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,160,335 (GRCm39) |
D598G |
probably damaging |
Het |
| Calca |
T |
C |
7: 114,233,796 (GRCm39) |
E45G |
probably damaging |
Het |
| Cdk8 |
C |
T |
5: 146,220,478 (GRCm39) |
R166* |
probably null |
Het |
| Chsy1 |
T |
A |
7: 65,821,001 (GRCm39) |
M412K |
probably damaging |
Het |
| Cic |
T |
A |
7: 24,988,338 (GRCm39) |
Y1675* |
probably null |
Het |
| Col1a2 |
T |
A |
6: 4,510,710 (GRCm39) |
D53E |
possibly damaging |
Het |
| Fut10 |
T |
A |
8: 31,726,048 (GRCm39) |
Y268N |
possibly damaging |
Het |
| Glrx3 |
T |
C |
7: 137,060,846 (GRCm39) |
|
probably benign |
Het |
| Gucy1b2 |
T |
A |
14: 62,642,076 (GRCm39) |
N697I |
probably damaging |
Het |
| Ifi208 |
T |
C |
1: 173,510,438 (GRCm39) |
S198P |
possibly damaging |
Het |
| Krt34 |
A |
G |
11: 99,929,857 (GRCm39) |
V213A |
probably damaging |
Het |
| Lats2 |
T |
C |
14: 57,928,998 (GRCm39) |
N959S |
probably damaging |
Het |
| Mat1a |
A |
G |
14: 40,843,338 (GRCm39) |
Y288C |
probably damaging |
Het |
| Mtif2 |
A |
T |
11: 29,490,718 (GRCm39) |
H474L |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,192,744 (GRCm39) |
I1512V |
probably damaging |
Het |
| Nkx2-6 |
T |
C |
14: 69,409,476 (GRCm39) |
S76P |
probably benign |
Het |
| Noxred1 |
G |
A |
12: 87,280,240 (GRCm39) |
R31W |
probably benign |
Het |
| Or14c46 |
T |
A |
7: 85,918,703 (GRCm39) |
Q98L |
probably damaging |
Het |
| Or4a69 |
T |
A |
2: 89,313,240 (GRCm39) |
M80L |
probably benign |
Het |
| Pcdhb16 |
C |
A |
18: 37,611,340 (GRCm39) |
T100K |
probably benign |
Het |
| Pcdhga10 |
T |
C |
18: 37,881,384 (GRCm39) |
C382R |
probably damaging |
Het |
| Pdgfra |
A |
T |
5: 75,349,948 (GRCm39) |
Y944F |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,625,353 (GRCm39) |
I741T |
possibly damaging |
Het |
| Ppp1r10 |
A |
G |
17: 36,241,760 (GRCm39) |
D845G |
unknown |
Het |
| Rfk |
C |
A |
19: 17,376,834 (GRCm39) |
|
probably null |
Het |
| Rgs11 |
C |
T |
17: 26,423,302 (GRCm39) |
|
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,865,705 (GRCm39) |
V951A |
probably benign |
Het |
| St3gal5 |
T |
C |
6: 72,126,013 (GRCm39) |
V286A |
probably benign |
Het |
| St7l |
T |
C |
3: 104,798,870 (GRCm39) |
M320T |
probably benign |
Het |
| Tnfrsf1b |
G |
T |
4: 144,954,092 (GRCm39) |
Q86K |
probably benign |
Het |
| Tox |
T |
C |
4: 6,697,535 (GRCm39) |
I423V |
probably benign |
Het |
| Tpbpa |
T |
A |
13: 61,087,827 (GRCm39) |
H88L |
probably benign |
Het |
| Vmn1r236 |
A |
G |
17: 21,507,068 (GRCm39) |
Y62C |
probably benign |
Het |
| Ythdc1 |
A |
G |
5: 86,970,526 (GRCm39) |
I399M |
probably damaging |
Het |
| Zfp948 |
T |
G |
17: 21,807,838 (GRCm39) |
D343E |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,863,076 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCATGGGGCCTCAATAGAAAG -3'
(R):5'- GGGAGTCACAAACCCTTTCTTTATC -3'
Sequencing Primer
(F):5'- GGCCTCAATAGAAAGAAAAAGAGTC -3'
(R):5'- TTCTTTATCAAAACACTCCAGCACTG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation