Incidental Mutation 'R3698:Dennd10'
| ID |
269902 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd10
|
| Ensembl Gene |
ENSMUSG00000024993 |
| Gene Name |
DENN domain containing 10 |
| Synonyms |
1810055E12Rik, Fam45a |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R3698 (G1)
|
| Quality Score |
199 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
60800023-60824665 bp(+) (GRCm39) |
| Type of Mutation |
splice site (1752 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 60821054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118461
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025957]
[ENSMUST00000080806]
[ENSMUST00000119633]
[ENSMUST00000128357]
|
| AlphaFold |
Q9D8N2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025957
AA Change: I279V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000025957
Gene: ENSMUSG00000024993
AA Change: I279V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Avl9
|
118 |
207 |
1.7e-9 |
PFAM |
|
Pfam:SPA
|
157 |
264 |
2.2e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080806
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119633
AA Change: I158V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000112839
Gene: ENSMUSG00000024993
AA Change: I158V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Avl9
|
5 |
88 |
1.4e-9 |
PFAM |
|
Pfam:SPA
|
36 |
143 |
4.7e-11 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000128357
|
| SMART Domains |
Protein: ENSMUSP00000118461
Gene: ENSMUSG00000024993
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Avl9
|
4 |
88 |
4e-10 |
PFAM |
|
Pfam:SPA
|
35 |
136 |
1.2e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142375
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l2 |
C |
A |
19: 56,904,955 (GRCm39) |
S549I |
possibly damaging |
Het |
| Aldh4a1 |
A |
G |
4: 139,369,562 (GRCm39) |
H371R |
possibly damaging |
Het |
| Arpc1a |
G |
T |
5: 145,033,001 (GRCm39) |
K103N |
probably damaging |
Het |
| Btg3 |
A |
G |
16: 78,161,722 (GRCm39) |
S136P |
probably benign |
Het |
| Ckap5 |
C |
A |
2: 91,450,511 (GRCm39) |
T2014K |
probably benign |
Het |
| Emc1 |
T |
G |
4: 139,092,697 (GRCm39) |
S546A |
possibly damaging |
Het |
| G3bp2 |
T |
C |
5: 92,204,139 (GRCm39) |
E316G |
possibly damaging |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Il6st |
T |
G |
13: 112,640,916 (GRCm39) |
D897E |
probably benign |
Het |
| Ipo13 |
A |
G |
4: 117,757,890 (GRCm39) |
L767P |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Klhl13 |
G |
A |
X: 23,114,422 (GRCm39) |
T94I |
probably benign |
Het |
| Morc2a |
A |
T |
11: 3,629,672 (GRCm39) |
K364* |
probably null |
Het |
| Nat8f2 |
T |
A |
6: 85,844,778 (GRCm39) |
T195S |
probably benign |
Het |
| Nckipsd |
G |
A |
9: 108,688,320 (GRCm39) |
G83S |
probably damaging |
Het |
| Nfu1 |
A |
G |
6: 86,992,634 (GRCm39) |
T83A |
probably damaging |
Het |
| Nid1 |
G |
A |
13: 13,661,344 (GRCm39) |
C748Y |
probably damaging |
Het |
| Or1af1 |
C |
T |
2: 37,110,188 (GRCm39) |
P229L |
probably damaging |
Het |
| Or5w15 |
T |
C |
2: 87,568,360 (GRCm39) |
T103A |
probably benign |
Het |
| Rgs22 |
C |
T |
15: 36,100,038 (GRCm39) |
V226I |
probably benign |
Het |
| Slc13a4 |
T |
A |
6: 35,251,892 (GRCm39) |
I467F |
probably benign |
Het |
| Stat2 |
T |
A |
10: 128,114,662 (GRCm39) |
L253Q |
probably benign |
Het |
| Tnxb |
G |
T |
17: 34,909,407 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,564,595 (GRCm39) |
R28514H |
probably damaging |
Het |
| Usp15 |
T |
C |
10: 123,017,643 (GRCm39) |
D51G |
probably damaging |
Het |
| Uvrag |
T |
C |
7: 98,589,150 (GRCm39) |
E417G |
probably damaging |
Het |
|
| Other mutations in Dennd10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01680:Dennd10
|
APN |
19 |
60,805,972 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02644:Dennd10
|
APN |
19 |
60,810,741 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
FR4340:Dennd10
|
UTSW |
19 |
60,803,059 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Dennd10
|
UTSW |
19 |
60,803,060 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Dennd10
|
UTSW |
19 |
60,803,056 (GRCm39) |
small insertion |
probably benign |
|
|
IGL02796:Dennd10
|
UTSW |
19 |
60,806,081 (GRCm39) |
intron |
probably benign |
|
|
R1613:Dennd10
|
UTSW |
19 |
60,810,763 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1710:Dennd10
|
UTSW |
19 |
60,806,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2860:Dennd10
|
UTSW |
19 |
60,803,232 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2861:Dennd10
|
UTSW |
19 |
60,803,232 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4729:Dennd10
|
UTSW |
19 |
60,823,309 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4844:Dennd10
|
UTSW |
19 |
60,823,435 (GRCm39) |
makesense |
probably null |
|
|
R4871:Dennd10
|
UTSW |
19 |
60,819,252 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5361:Dennd10
|
UTSW |
19 |
60,814,324 (GRCm39) |
missense |
probably benign |
|
|
R5396:Dennd10
|
UTSW |
19 |
60,823,274 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7102:Dennd10
|
UTSW |
19 |
60,821,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7842:Dennd10
|
UTSW |
19 |
60,819,317 (GRCm39) |
missense |
not run |
|
|
R8903:Dennd10
|
UTSW |
19 |
60,823,423 (GRCm39) |
nonsense |
probably null |
|
|
RF033:Dennd10
|
UTSW |
19 |
60,803,056 (GRCm39) |
small insertion |
probably benign |
|
|
RF038:Dennd10
|
UTSW |
19 |
60,803,056 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATGAGCATACCTTCCATCCTG -3'
(R):5'- ACACTAATGCTAGCTGGCCTG -3'
Sequencing Primer
(F):5'- ATGGAAACTTGGAGGGCTATCTGC -3'
(R):5'- TAATGCTAGCTGGCCTGTGACC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation