Incidental Mutation 'R7579:Dennd1a'
| ID |
586619 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd1a
|
| Ensembl Gene |
ENSMUSG00000035392 |
| Gene Name |
DENN domain containing 1A |
| Synonyms |
6030446I19Rik |
| MMRRC Submission |
045633-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R7579 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
37689003-38177402 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37748444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 345
(H345R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099848
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102787]
[ENSMUST00000140552]
|
| AlphaFold |
Q8K382 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102787
AA Change: H345R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099848
Gene: ENSMUSG00000035392
AA Change: H345R
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
9 |
91 |
1.44e-26 |
SMART |
|
DENN
|
92 |
273 |
2.09e-73 |
SMART |
|
dDENN
|
304 |
371 |
1.37e-18 |
SMART |
|
low complexity region
|
497 |
508 |
N/A |
INTRINSIC |
|
low complexity region
|
689 |
702 |
N/A |
INTRINSIC |
|
low complexity region
|
747 |
761 |
N/A |
INTRINSIC |
|
low complexity region
|
772 |
786 |
N/A |
INTRINSIC |
|
low complexity region
|
801 |
815 |
N/A |
INTRINSIC |
|
low complexity region
|
822 |
856 |
N/A |
INTRINSIC |
|
low complexity region
|
952 |
972 |
N/A |
INTRINSIC |
|
low complexity region
|
991 |
1004 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140552
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (51/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
G |
T |
7: 119,292,933 (GRCm39) |
R21L |
probably benign |
Het |
| Adgb |
T |
A |
10: 10,286,562 (GRCm39) |
R120* |
probably null |
Het |
| Adgra3 |
C |
A |
5: 50,144,977 (GRCm39) |
A539S |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,740,047 (GRCm39) |
S1946P |
unknown |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cdc20b |
A |
T |
13: 113,173,582 (GRCm39) |
|
probably null |
Het |
| Cfh |
T |
G |
1: 140,036,328 (GRCm39) |
D730A |
possibly damaging |
Het |
| Dhx36 |
T |
C |
3: 62,388,294 (GRCm39) |
S614G |
possibly damaging |
Het |
| Dio1 |
C |
T |
4: 107,149,583 (GRCm39) |
V240I |
possibly damaging |
Het |
| Dnah12 |
A |
G |
14: 26,492,460 (GRCm39) |
D1200G |
probably benign |
Het |
| Dpy19l4 |
A |
T |
4: 11,265,909 (GRCm39) |
S680T |
probably benign |
Het |
| Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
| Fcrlb |
T |
C |
1: 170,735,416 (GRCm39) |
|
probably null |
Het |
| Gad1 |
T |
A |
2: 70,417,476 (GRCm39) |
I253K |
possibly damaging |
Het |
| Gars1 |
A |
G |
6: 55,054,688 (GRCm39) |
D665G |
probably damaging |
Het |
| Gldn |
A |
G |
9: 54,245,648 (GRCm39) |
T400A |
probably benign |
Het |
| Gm1110 |
C |
A |
9: 26,795,122 (GRCm39) |
V455L |
possibly damaging |
Het |
| Gm11444 |
A |
G |
11: 85,741,069 (GRCm39) |
V30A |
unknown |
Het |
| Gm5134 |
T |
C |
10: 75,800,271 (GRCm39) |
S51P |
probably damaging |
Het |
| Gprc6a |
C |
T |
10: 51,502,883 (GRCm39) |
A327T |
probably benign |
Het |
| Gstt2 |
A |
T |
10: 75,670,019 (GRCm39) |
D34E |
probably benign |
Het |
| Icam2 |
A |
G |
11: 106,271,589 (GRCm39) |
F78L |
probably damaging |
Het |
| Jakmip1 |
T |
G |
5: 37,284,802 (GRCm39) |
C630G |
possibly damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,386,686 (GRCm39) |
N523I |
probably damaging |
Het |
| Klf10 |
A |
G |
15: 38,297,282 (GRCm39) |
S253P |
probably benign |
Het |
| Mmd2 |
A |
T |
5: 142,594,361 (GRCm39) |
M1K |
probably null |
Het |
| Mroh2b |
G |
T |
15: 4,960,543 (GRCm39) |
G759C |
probably benign |
Het |
| Or10w3 |
T |
C |
19: 13,704,465 (GRCm39) |
L280P |
probably damaging |
Het |
| Or2b7 |
A |
T |
13: 21,740,176 (GRCm39) |
N5K |
probably benign |
Het |
| Or8k32 |
C |
T |
2: 86,368,872 (GRCm39) |
C127Y |
probably damaging |
Het |
| Orc5 |
A |
G |
5: 22,755,197 (GRCm39) |
F22S |
possibly damaging |
Het |
| Prlr |
A |
G |
15: 10,329,021 (GRCm39) |
I499V |
probably benign |
Het |
| Ptbp1 |
A |
G |
10: 79,694,954 (GRCm39) |
N94S |
probably benign |
Het |
| Rassf3 |
C |
A |
10: 121,312,103 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
C |
T |
5: 28,573,264 (GRCm39) |
P455S |
probably damaging |
Het |
| Sgcd |
C |
G |
11: 47,016,481 (GRCm39) |
G127A |
possibly damaging |
Het |
| Slc22a13 |
A |
G |
9: 119,024,226 (GRCm39) |
I336T |
possibly damaging |
Het |
| Slc25a31 |
A |
T |
3: 40,679,471 (GRCm39) |
D312V |
possibly damaging |
Het |
| Slc37a4 |
G |
A |
9: 44,312,818 (GRCm39) |
S324N |
probably benign |
Het |
| Slco1a5 |
A |
G |
6: 142,221,207 (GRCm39) |
V13A |
probably benign |
Het |
| Srgap2 |
T |
C |
1: 131,220,371 (GRCm39) |
H907R |
probably damaging |
Het |
| Supv3l1 |
A |
C |
10: 62,271,487 (GRCm39) |
V381G |
probably damaging |
Het |
| Supv3l1 |
C |
A |
10: 62,271,488 (GRCm39) |
V381L |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,299,324 (GRCm39) |
D977G |
probably damaging |
Het |
| Syt3 |
T |
A |
7: 44,040,272 (GRCm39) |
Y168* |
probably null |
Het |
| Tshz1 |
A |
T |
18: 84,032,790 (GRCm39) |
Y539* |
probably null |
Het |
| Ttll13 |
A |
G |
7: 79,907,981 (GRCm39) |
K501R |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,612,732 (GRCm39) |
Q17116* |
probably null |
Het |
| Vcan |
T |
C |
13: 89,840,577 (GRCm39) |
T1656A |
probably damaging |
Het |
| Vmn1r73 |
G |
T |
7: 11,491,082 (GRCm39) |
C300F |
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,992,948 (GRCm39) |
K521E |
probably damaging |
Het |
| Zdhhc11 |
T |
A |
13: 74,130,885 (GRCm39) |
|
probably benign |
Het |
| Zfp760 |
T |
C |
17: 21,941,907 (GRCm39) |
S361P |
possibly damaging |
Het |
| Zranb2 |
A |
G |
3: 157,246,309 (GRCm39) |
Y114C |
probably damaging |
Het |
|
| Other mutations in Dennd1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Dennd1a
|
APN |
2 |
38,133,454 (GRCm39) |
nonsense |
probably null |
|
|
IGL00490:Dennd1a
|
APN |
2 |
37,691,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00839:Dennd1a
|
APN |
2 |
37,706,994 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01065:Dennd1a
|
APN |
2 |
37,734,917 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01621:Dennd1a
|
APN |
2 |
37,734,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01792:Dennd1a
|
APN |
2 |
38,016,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01799:Dennd1a
|
APN |
2 |
37,938,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02516:Dennd1a
|
APN |
2 |
37,742,406 (GRCm39) |
critical splice donor site |
probably null |
|
|
contract
|
UTSW |
2 |
37,742,453 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0018:Dennd1a
|
UTSW |
2 |
37,748,472 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0018:Dennd1a
|
UTSW |
2 |
37,748,472 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0144:Dennd1a
|
UTSW |
2 |
38,016,652 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0784:Dennd1a
|
UTSW |
2 |
37,911,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1199:Dennd1a
|
UTSW |
2 |
37,851,728 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1439:Dennd1a
|
UTSW |
2 |
37,933,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1563:Dennd1a
|
UTSW |
2 |
37,748,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1608:Dennd1a
|
UTSW |
2 |
37,742,446 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1720:Dennd1a
|
UTSW |
2 |
37,690,209 (GRCm39) |
nonsense |
probably null |
|
|
R1967:Dennd1a
|
UTSW |
2 |
37,734,845 (GRCm39) |
missense |
probably benign |
|
|
R2570:Dennd1a
|
UTSW |
2 |
37,734,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3886:Dennd1a
|
UTSW |
2 |
37,748,089 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4464:Dennd1a
|
UTSW |
2 |
38,133,402 (GRCm39) |
splice site |
probably benign |
|
|
R4890:Dennd1a
|
UTSW |
2 |
38,066,238 (GRCm39) |
intron |
probably benign |
|
|
R5395:Dennd1a
|
UTSW |
2 |
37,692,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5652:Dennd1a
|
UTSW |
2 |
37,691,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5882:Dennd1a
|
UTSW |
2 |
37,851,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6285:Dennd1a
|
UTSW |
2 |
37,742,453 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6520:Dennd1a
|
UTSW |
2 |
37,851,759 (GRCm39) |
splice site |
probably null |
|
|
R6934:Dennd1a
|
UTSW |
2 |
37,691,225 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7053:Dennd1a
|
UTSW |
2 |
37,851,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7109:Dennd1a
|
UTSW |
2 |
37,938,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7204:Dennd1a
|
UTSW |
2 |
37,929,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7235:Dennd1a
|
UTSW |
2 |
37,691,073 (GRCm39) |
missense |
probably benign |
|
|
R7408:Dennd1a
|
UTSW |
2 |
37,742,184 (GRCm39) |
splice site |
probably null |
|
|
R7446:Dennd1a
|
UTSW |
2 |
37,706,991 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7645:Dennd1a
|
UTSW |
2 |
37,911,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7661:Dennd1a
|
UTSW |
2 |
37,734,841 (GRCm39) |
missense |
probably benign |
|
|
R8132:Dennd1a
|
UTSW |
2 |
37,748,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8305:Dennd1a
|
UTSW |
2 |
37,748,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8369:Dennd1a
|
UTSW |
2 |
37,938,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8418:Dennd1a
|
UTSW |
2 |
37,748,403 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8438:Dennd1a
|
UTSW |
2 |
37,746,150 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8544:Dennd1a
|
UTSW |
2 |
37,872,920 (GRCm39) |
splice site |
probably null |
|
|
R8997:Dennd1a
|
UTSW |
2 |
37,690,497 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9052:Dennd1a
|
UTSW |
2 |
37,911,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9087:Dennd1a
|
UTSW |
2 |
37,911,366 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9096:Dennd1a
|
UTSW |
2 |
37,690,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9346:Dennd1a
|
UTSW |
2 |
37,911,447 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1088:Dennd1a
|
UTSW |
2 |
37,690,704 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Dennd1a
|
UTSW |
2 |
37,690,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGCAAAGTGGTATATGCCC -3'
(R):5'- TTCCTCCCAGAAACAGCTTC -3'
Sequencing Primer
(F):5'- GTGGTATATGCCCAAAACCAGC -3'
(R):5'- TTCCCCACCATAAACTAGAGCACTTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation