Incidental Mutation 'R7595:Dennd1c'
| ID |
587696 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd1c
|
| Ensembl Gene |
ENSMUSG00000002668 |
| Gene Name |
DENN domain containing 1C |
| Synonyms |
4432409M07Rik |
| MMRRC Submission |
045640-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7595 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
57373051-57385518 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 57378633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 331
(L331R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000011623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011623]
|
| AlphaFold |
Q8CFK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000011623
AA Change: L331R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000011623
Gene: ENSMUSG00000002668
AA Change: L331R
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
9 |
89 |
1.18e-22 |
SMART |
|
DENN
|
90 |
293 |
3.95e-74 |
SMART |
|
low complexity region
|
312 |
318 |
N/A |
INTRINSIC |
|
dDENN
|
324 |
391 |
2.39e-18 |
SMART |
|
low complexity region
|
560 |
579 |
N/A |
INTRINSIC |
|
low complexity region
|
657 |
675 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.8153 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (44/44) |
| 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 DENND1C, 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930516K23Rik |
T |
C |
7: 103,708,470 (GRCm39) |
E113G |
probably damaging |
Het |
| Adamts16 |
A |
G |
13: 70,878,234 (GRCm39) |
F1177S |
probably damaging |
Het |
| Alox12 |
T |
A |
11: 70,133,230 (GRCm39) |
E658V |
probably damaging |
Het |
| Anxa6 |
C |
A |
11: 54,875,911 (GRCm39) |
V591L |
probably benign |
Het |
| Atp6ap1l |
A |
T |
13: 91,039,135 (GRCm39) |
S141T |
probably damaging |
Het |
| Bcar1 |
A |
C |
8: 112,447,625 (GRCm39) |
N117K |
probably benign |
Het |
| Cdh22 |
A |
G |
2: 164,954,383 (GRCm39) |
S713P |
probably benign |
Het |
| Cideb |
T |
C |
14: 55,992,261 (GRCm39) |
D144G |
probably damaging |
Het |
| Coch |
T |
A |
12: 51,645,016 (GRCm39) |
V190D |
probably damaging |
Het |
| Cyp4a12a |
C |
A |
4: 115,189,089 (GRCm39) |
L473M |
probably damaging |
Het |
| Dthd1 |
A |
G |
5: 62,976,058 (GRCm39) |
D244G |
probably benign |
Het |
| Dytn |
T |
C |
1: 63,698,161 (GRCm39) |
E282G |
probably damaging |
Het |
| Eml4 |
A |
G |
17: 83,763,513 (GRCm39) |
Q576R |
probably benign |
Het |
| Fa2h |
T |
A |
8: 112,082,122 (GRCm39) |
I175F |
probably benign |
Het |
| Fv1 |
A |
G |
4: 147,954,627 (GRCm39) |
T398A |
possibly damaging |
Het |
| Ggh |
C |
G |
4: 20,049,833 (GRCm39) |
S88C |
probably damaging |
Het |
| Gm5592 |
A |
G |
7: 40,935,867 (GRCm39) |
D123G |
probably damaging |
Het |
| Golph3l |
A |
G |
3: 95,517,094 (GRCm39) |
T201A |
probably benign |
Het |
| Ikbip |
A |
G |
10: 90,932,447 (GRCm39) |
S364G |
probably benign |
Het |
| Kcnc3 |
G |
A |
7: 44,240,893 (GRCm39) |
R195H |
probably damaging |
Het |
| Kdm5b |
T |
A |
1: 134,536,704 (GRCm39) |
D641E |
probably benign |
Het |
| Kif26a |
C |
T |
12: 112,145,759 (GRCm39) |
P1757S |
probably benign |
Het |
| Klf14 |
T |
C |
6: 30,935,475 (GRCm39) |
K53R |
probably benign |
Het |
| Klk1b4 |
A |
G |
7: 43,860,132 (GRCm39) |
D82G |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,124,171 (GRCm39) |
F1702S |
probably benign |
Het |
| Mfsd4b1 |
A |
T |
10: 39,879,221 (GRCm39) |
Y225* |
probably null |
Het |
| Or8g20 |
A |
C |
9: 39,395,611 (GRCm39) |
F313V |
probably benign |
Het |
| Pcsk4 |
T |
A |
10: 80,157,935 (GRCm39) |
D601V |
possibly damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,358,917 (GRCm39) |
D375E |
probably damaging |
Het |
| Primpol |
A |
G |
8: 47,063,650 (GRCm39) |
L2S |
probably benign |
Het |
| Ralgapb |
G |
A |
2: 158,268,085 (GRCm39) |
V63I |
possibly damaging |
Het |
| Rptor |
T |
A |
11: 119,634,779 (GRCm39) |
N198K |
possibly damaging |
Het |
| Samd5 |
T |
C |
10: 9,504,738 (GRCm39) |
N172S |
probably benign |
Het |
| Sorbs1 |
A |
T |
19: 40,303,097 (GRCm39) |
H542Q |
probably damaging |
Het |
| Spopfm1 |
A |
G |
3: 94,173,985 (GRCm39) |
E327G |
probably benign |
Het |
| Spopfm3 |
A |
G |
3: 94,105,724 (GRCm39) |
D14G |
probably benign |
Het |
| Srgn |
T |
A |
10: 62,343,785 (GRCm39) |
|
probably benign |
Het |
| Taar6 |
C |
T |
10: 23,860,968 (GRCm39) |
V193I |
probably benign |
Het |
| Tmem132a |
G |
A |
19: 10,835,569 (GRCm39) |
A987V |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,195,059 (GRCm39) |
Y1028H |
probably damaging |
Het |
| Ttc21a |
T |
C |
9: 119,787,135 (GRCm39) |
L714P |
probably benign |
Het |
| Wdfy4 |
C |
T |
14: 32,696,111 (GRCm39) |
|
probably null |
Het |
| Zswim9 |
T |
C |
7: 12,994,998 (GRCm39) |
D386G |
probably benign |
Het |
| Zwilch |
A |
G |
9: 64,056,546 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dennd1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01016:Dennd1c
|
APN |
17 |
57,373,839 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02729:Dennd1c
|
APN |
17 |
57,373,637 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL03185:Dennd1c
|
APN |
17 |
57,373,803 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0067:Dennd1c
|
UTSW |
17 |
57,382,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0067:Dennd1c
|
UTSW |
17 |
57,382,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0288:Dennd1c
|
UTSW |
17 |
57,383,870 (GRCm39) |
splice site |
probably null |
|
|
R0380:Dennd1c
|
UTSW |
17 |
57,380,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0381:Dennd1c
|
UTSW |
17 |
57,380,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0389:Dennd1c
|
UTSW |
17 |
57,374,649 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1528:Dennd1c
|
UTSW |
17 |
57,373,935 (GRCm39) |
missense |
probably benign |
|
|
R1892:Dennd1c
|
UTSW |
17 |
57,374,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1936:Dennd1c
|
UTSW |
17 |
57,380,889 (GRCm39) |
splice site |
probably benign |
|
|
R2216:Dennd1c
|
UTSW |
17 |
57,381,492 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3021:Dennd1c
|
UTSW |
17 |
57,381,180 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3160:Dennd1c
|
UTSW |
17 |
57,373,562 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3162:Dennd1c
|
UTSW |
17 |
57,373,562 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3162:Dennd1c
|
UTSW |
17 |
57,373,562 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4133:Dennd1c
|
UTSW |
17 |
57,383,980 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4831:Dennd1c
|
UTSW |
17 |
57,373,428 (GRCm39) |
nonsense |
probably null |
|
|
R4987:Dennd1c
|
UTSW |
17 |
57,380,852 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5417:Dennd1c
|
UTSW |
17 |
57,373,755 (GRCm39) |
frame shift |
probably null |
|
|
R5418:Dennd1c
|
UTSW |
17 |
57,373,755 (GRCm39) |
frame shift |
probably null |
|
|
R6241:Dennd1c
|
UTSW |
17 |
57,373,272 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6259:Dennd1c
|
UTSW |
17 |
57,374,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6722:Dennd1c
|
UTSW |
17 |
57,373,802 (GRCm39) |
missense |
probably benign |
|
|
R7099:Dennd1c
|
UTSW |
17 |
57,374,915 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7491:Dennd1c
|
UTSW |
17 |
57,379,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8081:Dennd1c
|
UTSW |
17 |
57,381,139 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8198:Dennd1c
|
UTSW |
17 |
57,373,460 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8896:Dennd1c
|
UTSW |
17 |
57,381,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9155:Dennd1c
|
UTSW |
17 |
57,373,796 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Dennd1c
|
UTSW |
17 |
57,381,330 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCATCTATAATGTGGCTGTCAG -3'
(R):5'- CCCTTTGACGATGTGCAAGC -3'
Sequencing Primer
(F):5'- AACTCACTCTGTAGAGCAGGTTG -3'
(R):5'- AAGCTCTGCCGCCGGATG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation