Incidental Mutation 'R8961:Dennd2a'
| ID |
682332 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd2a
|
| Ensembl Gene |
ENSMUSG00000038456 |
| Gene Name |
DENN domain containing 2A |
| Synonyms |
B930096L08Rik |
| MMRRC Submission |
068795-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
R8961 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
39439312-39534801 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39462555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 652
(K652E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036877]
|
| AlphaFold |
Q8C4S8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036877
AA Change: K652E
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000045367
Gene: ENSMUSG00000038456
AA Change: K652E
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DENN
|
9 |
430 |
1e-149 |
BLAST |
|
low complexity region
|
445 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
520 |
N/A |
INTRINSIC |
|
uDENN
|
554 |
646 |
2.06e-31 |
SMART |
|
DENN
|
653 |
837 |
7.1e-76 |
SMART |
|
dDENN
|
888 |
953 |
1.84e-19 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700064H15Rik |
T |
A |
3: 19,664,633 (GRCm39) |
|
probably benign |
Het |
| Angptl6 |
T |
C |
9: 20,789,467 (GRCm39) |
T142A |
probably benign |
Het |
| Atp6v1b2 |
A |
G |
8: 69,555,414 (GRCm39) |
I202V |
probably benign |
Het |
| B3gat2 |
A |
T |
1: 23,801,900 (GRCm39) |
D62V |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,929,573 (GRCm39) |
D1211G |
possibly damaging |
Het |
| Ccp110 |
T |
G |
7: 118,322,110 (GRCm39) |
D588E |
probably damaging |
Het |
| Cdh6 |
A |
T |
15: 13,041,447 (GRCm39) |
I539K |
probably benign |
Het |
| Chd5 |
A |
G |
4: 152,467,489 (GRCm39) |
|
probably benign |
Het |
| Crim1 |
T |
C |
17: 78,680,117 (GRCm39) |
S953P |
possibly damaging |
Het |
| Dnajb3 |
T |
A |
1: 88,132,998 (GRCm39) |
R135* |
probably null |
Het |
| Dnajc25 |
T |
A |
4: 59,020,438 (GRCm39) |
M168K |
|
Het |
| Elfn2 |
T |
C |
15: 78,557,378 (GRCm39) |
S390G |
probably benign |
Het |
| Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
| Fam135b |
T |
A |
15: 71,404,812 (GRCm39) |
N78I |
probably damaging |
Het |
| Flot2 |
G |
A |
11: 77,945,632 (GRCm39) |
|
probably benign |
Het |
| Gm10277 |
T |
A |
11: 77,677,826 (GRCm39) |
|
probably benign |
Het |
| Itpr1 |
T |
C |
6: 108,470,666 (GRCm39) |
V2198A |
possibly damaging |
Het |
| Kndc1 |
T |
A |
7: 139,503,976 (GRCm39) |
F1093L |
possibly damaging |
Het |
| Kndc1 |
C |
T |
7: 139,507,708 (GRCm39) |
S1222F |
possibly damaging |
Het |
| Kpna4 |
T |
C |
3: 68,986,821 (GRCm39) |
T523A |
probably benign |
Het |
| Krt39 |
T |
C |
11: 99,409,931 (GRCm39) |
D202G |
possibly damaging |
Het |
| Loxhd1 |
C |
T |
18: 77,472,765 (GRCm39) |
T985M |
probably damaging |
Het |
| Mdc1 |
T |
C |
17: 36,159,407 (GRCm39) |
S596P |
probably benign |
Het |
| Misp |
A |
G |
10: 79,663,823 (GRCm39) |
Q599R |
probably benign |
Het |
| Mogs |
C |
A |
6: 83,092,720 (GRCm39) |
F53L |
probably benign |
Het |
| Mthfr |
A |
T |
4: 148,128,099 (GRCm39) |
N167Y |
probably damaging |
Het |
| Nod1 |
C |
T |
6: 54,926,461 (GRCm39) |
E53K |
probably damaging |
Het |
| Or1j11 |
A |
T |
2: 36,312,177 (GRCm39) |
I256F |
probably damaging |
Het |
| Or52l1 |
A |
G |
7: 104,830,376 (GRCm39) |
I48T |
possibly damaging |
Het |
| Or5m5 |
T |
A |
2: 85,814,610 (GRCm39) |
M142K |
probably damaging |
Het |
| Or6c5c |
C |
T |
10: 129,299,225 (GRCm39) |
P227S |
probably damaging |
Het |
| Or6z5 |
T |
C |
7: 6,477,763 (GRCm39) |
V218A |
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,726,717 (GRCm39) |
I2263T |
possibly damaging |
Het |
| Rbbp8 |
T |
C |
18: 11,865,262 (GRCm39) |
M717T |
probably benign |
Het |
| Rest |
A |
G |
5: 77,416,482 (GRCm39) |
H232R |
probably damaging |
Het |
| Rps6ka1 |
A |
G |
4: 133,587,362 (GRCm39) |
|
probably null |
Het |
| Rtf1 |
T |
A |
2: 119,557,377 (GRCm39) |
F465I |
probably benign |
Het |
| Skil |
T |
C |
3: 31,167,729 (GRCm39) |
S454P |
probably benign |
Het |
| Snx13 |
T |
C |
12: 35,155,285 (GRCm39) |
Y450H |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,647,414 (GRCm39) |
E971V |
possibly damaging |
Het |
| Sqle |
T |
A |
15: 59,187,695 (GRCm39) |
M1K |
probably null |
Het |
| Srcap |
C |
G |
7: 127,141,101 (GRCm39) |
P1566R |
probably damaging |
Het |
| Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
| Tmc3 |
T |
C |
7: 83,256,970 (GRCm39) |
Y408H |
probably damaging |
Het |
| Uba2 |
A |
T |
7: 33,855,642 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
G |
T |
9: 73,839,524 (GRCm39) |
N442K |
probably benign |
Het |
| Vmn1r21 |
T |
A |
6: 57,820,829 (GRCm39) |
H205L |
probably damaging |
Het |
| Vwa7 |
C |
T |
17: 35,238,086 (GRCm39) |
T229I |
probably damaging |
Het |
| Washc4 |
A |
G |
10: 83,409,657 (GRCm39) |
D602G |
probably damaging |
Het |
| Zcchc9 |
C |
A |
13: 91,953,955 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dennd2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01385:Dennd2a
|
APN |
6 |
39,500,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01482:Dennd2a
|
APN |
6 |
39,457,243 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02135:Dennd2a
|
APN |
6 |
39,457,205 (GRCm39) |
nonsense |
probably null |
|
|
IGL02206:Dennd2a
|
APN |
6 |
39,500,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02649:Dennd2a
|
APN |
6 |
39,447,290 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL03057:Dennd2a
|
APN |
6 |
39,485,182 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0310:Dennd2a
|
UTSW |
6 |
39,441,135 (GRCm39) |
splice site |
probably benign |
|
|
R0326:Dennd2a
|
UTSW |
6 |
39,474,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0360:Dennd2a
|
UTSW |
6 |
39,485,233 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0364:Dennd2a
|
UTSW |
6 |
39,485,233 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0394:Dennd2a
|
UTSW |
6 |
39,499,746 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0680:Dennd2a
|
UTSW |
6 |
39,459,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1741:Dennd2a
|
UTSW |
6 |
39,470,091 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1744:Dennd2a
|
UTSW |
6 |
39,457,185 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2070:Dennd2a
|
UTSW |
6 |
39,442,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3833:Dennd2a
|
UTSW |
6 |
39,483,657 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3833:Dennd2a
|
UTSW |
6 |
39,483,651 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4120:Dennd2a
|
UTSW |
6 |
39,442,030 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4583:Dennd2a
|
UTSW |
6 |
39,499,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4842:Dennd2a
|
UTSW |
6 |
39,474,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4887:Dennd2a
|
UTSW |
6 |
39,474,093 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4901:Dennd2a
|
UTSW |
6 |
39,499,621 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5065:Dennd2a
|
UTSW |
6 |
39,472,110 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5413:Dennd2a
|
UTSW |
6 |
39,441,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6181:Dennd2a
|
UTSW |
6 |
39,462,554 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6239:Dennd2a
|
UTSW |
6 |
39,465,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6360:Dennd2a
|
UTSW |
6 |
39,470,076 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7115:Dennd2a
|
UTSW |
6 |
39,483,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7419:Dennd2a
|
UTSW |
6 |
39,500,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7567:Dennd2a
|
UTSW |
6 |
39,499,743 (GRCm39) |
missense |
probably benign |
|
|
R7587:Dennd2a
|
UTSW |
6 |
39,460,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7662:Dennd2a
|
UTSW |
6 |
39,470,037 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7781:Dennd2a
|
UTSW |
6 |
39,470,000 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7962:Dennd2a
|
UTSW |
6 |
39,457,207 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8683:Dennd2a
|
UTSW |
6 |
39,500,137 (GRCm39) |
nonsense |
probably null |
|
|
R9424:Dennd2a
|
UTSW |
6 |
39,485,294 (GRCm39) |
nonsense |
probably null |
|
|
R9765:Dennd2a
|
UTSW |
6 |
39,473,907 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9767:Dennd2a
|
UTSW |
6 |
39,483,709 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0026:Dennd2a
|
UTSW |
6 |
39,485,301 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Z1177:Dennd2a
|
UTSW |
6 |
39,500,408 (GRCm39) |
missense |
probably benign |
0.38 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCAGGGTCGACTGGAGTG -3'
(R):5'- GAATACAATGATCTAACAGACTTCTGA -3'
Sequencing Primer
(F):5'- GGCGGCTCATAACTCTCTATAAGG -3'
(R):5'- ACTTCTGAATGGTAAAATGGGGTG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation