Incidental Mutation 'R3012:Dennd11'
| ID |
257531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd11
|
| Ensembl Gene |
ENSMUSG00000037172 |
| Gene Name |
DENN domain containing 11 |
| Synonyms |
E330009J07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R3012 (G1)
|
| Quality Score |
160 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
40378309-40413069 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40412926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 45
(E45G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099031
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039008]
[ENSMUST00000101492]
[ENSMUST00000201712]
[ENSMUST00000202464]
|
| AlphaFold |
Q3UHG7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039008
AA Change: E45G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045103
Gene: ENSMUSG00000037172
AA Change: E45G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
60 |
N/A |
INTRINSIC |
|
Pfam:DUF2347
|
80 |
347 |
3.4e-79 |
PFAM |
|
Pfam:SPA
|
234 |
345 |
5.2e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101492
AA Change: E45G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099031
Gene: ENSMUSG00000037172
AA Change: E45G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
60 |
N/A |
INTRINSIC |
|
Pfam:DUF2347
|
80 |
347 |
3.2e-78 |
PFAM |
|
Pfam:SPA
|
234 |
345 |
6.3e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200994
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201712
|
| SMART Domains |
Protein: ENSMUSP00000143916
Gene: ENSMUSG00000037172
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2347
|
15 |
133 |
1.4e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202464
|
| SMART Domains |
Protein: ENSMUSP00000144628
Gene: ENSMUSG00000037159
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
117 |
128 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh18a1 |
G |
T |
19: 40,546,135 (GRCm39) |
Y585* |
probably null |
Het |
| Ankrd17 |
G |
A |
5: 90,378,727 (GRCm39) |
P2563S |
probably damaging |
Het |
| Atg10 |
A |
T |
13: 91,302,397 (GRCm39) |
F47Y |
probably damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,868,817 (GRCm39) |
R798Q |
probably damaging |
Het |
| Cfi |
A |
G |
3: 129,668,579 (GRCm39) |
D535G |
probably damaging |
Het |
| Dgat1 |
T |
A |
15: 76,387,593 (GRCm39) |
Q308H |
possibly damaging |
Het |
| Dsp |
T |
C |
13: 38,377,318 (GRCm39) |
I1701T |
possibly damaging |
Het |
| Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
| Fes |
G |
C |
7: 80,036,915 (GRCm39) |
S56R |
possibly damaging |
Het |
| Gria1 |
G |
A |
11: 57,180,260 (GRCm39) |
V737M |
probably damaging |
Het |
| Gtf2h1 |
A |
G |
7: 46,453,319 (GRCm39) |
H84R |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,523,136 (GRCm39) |
|
probably null |
Het |
| Il15 |
T |
A |
8: 83,071,049 (GRCm39) |
N22I |
probably damaging |
Het |
| Me1 |
A |
G |
9: 86,493,965 (GRCm39) |
S323P |
probably benign |
Het |
| Or10a5 |
T |
C |
7: 106,635,569 (GRCm39) |
F69S |
possibly damaging |
Het |
| Parp4 |
T |
C |
14: 56,832,873 (GRCm39) |
|
probably null |
Het |
| Pcdhga7 |
A |
G |
18: 37,848,691 (GRCm39) |
T233A |
probably benign |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rpe65 |
G |
T |
3: 159,310,200 (GRCm39) |
V128F |
possibly damaging |
Het |
| Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
| Tbc1d32 |
A |
G |
10: 56,050,011 (GRCm39) |
V509A |
probably benign |
Het |
| Tln1 |
T |
A |
4: 43,542,525 (GRCm39) |
T1428S |
probably benign |
Het |
| Ttc27 |
A |
T |
17: 75,147,454 (GRCm39) |
I669F |
probably benign |
Het |
| Tubb3 |
T |
G |
8: 124,147,975 (GRCm39) |
C303G |
probably damaging |
Het |
| Tulp2 |
G |
T |
7: 45,168,187 (GRCm39) |
V188L |
probably damaging |
Het |
| Zfr |
T |
C |
15: 12,166,249 (GRCm39) |
Y840H |
probably damaging |
Het |
|
| Other mutations in Dennd11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02813:Dennd11
|
APN |
6 |
40,395,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03143:Dennd11
|
APN |
6 |
40,399,828 (GRCm39) |
splice site |
probably benign |
|
|
R1812:Dennd11
|
UTSW |
6 |
40,386,365 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1928:Dennd11
|
UTSW |
6 |
40,388,648 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2443:Dennd11
|
UTSW |
6 |
40,383,710 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6913:Dennd11
|
UTSW |
6 |
40,383,851 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7318:Dennd11
|
UTSW |
6 |
40,386,098 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7456:Dennd11
|
UTSW |
6 |
40,383,774 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8087:Dennd11
|
UTSW |
6 |
40,395,526 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8231:Dennd11
|
UTSW |
6 |
40,395,546 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8776:Dennd11
|
UTSW |
6 |
40,395,775 (GRCm39) |
intron |
probably benign |
|
|
R8858:Dennd11
|
UTSW |
6 |
40,399,669 (GRCm39) |
missense |
probably benign |
0.02 |
|
Y4340:Dennd11
|
UTSW |
6 |
40,412,992 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAACCCAGTGTGCAGTCTCC -3'
(R):5'- CCCTACACTATGGATCAAGAGC -3'
Sequencing Primer
(F):5'- AGTGTGCAGTCTCCCCCAC -3'
(R):5'- CCACATACAGAGATGCAGAGCTG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation