Incidental Mutation 'R3953:Dennd5a'
| ID |
308050 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd5a
|
| Ensembl Gene |
ENSMUSG00000035901 |
| Gene Name |
DENN domain containing 5A |
| Synonyms |
Rab6ip1, 1500012B19Rik, ORF37 |
| MMRRC Submission |
040830-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
R3953 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
109492987-109559677 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109504906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 868
(M868T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079295
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080437]
[ENSMUST00000106722]
|
| AlphaFold |
Q6PAL8 |
| PDB Structure |
Strucure of RAB6(GTP)-R6IP1 complex [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080437
AA Change: M868T
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000079295
Gene: ENSMUSG00000035901
AA Change: M868T
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
12 |
138 |
7.71e-45 |
SMART |
|
DENN
|
202 |
390 |
9.28e-80 |
SMART |
|
dDENN
|
512 |
588 |
4.06e-21 |
SMART |
|
low complexity region
|
832 |
844 |
N/A |
INTRINSIC |
|
RUN
|
884 |
947 |
4.9e-22 |
SMART |
|
Pfam:PLAT
|
956 |
1062 |
1e-15 |
PFAM |
|
RUN
|
1218 |
1278 |
3.69e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106722
AA Change: M844T
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102333
Gene: ENSMUSG00000035901
AA Change: M844T
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
12 |
114 |
2.32e-39 |
SMART |
|
DENN
|
178 |
366 |
9.28e-80 |
SMART |
|
dDENN
|
488 |
564 |
4.06e-21 |
SMART |
|
low complexity region
|
808 |
820 |
N/A |
INTRINSIC |
|
RUN
|
860 |
923 |
4.9e-22 |
SMART |
|
Pfam:PLAT
|
932 |
1038 |
2.8e-18 |
PFAM |
|
RUN
|
1194 |
1254 |
3.69e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154002
|
| Meta Mutation Damage Score |
0.4447 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (61/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DENN-domain-containing protein that functions as a RAB-activating guanine nucleotide exchange factor (GEF). This protein catalyzes the conversion of GDP to GTP and thereby converts inactive GDP-bound Rab proteins into their active GTP-bound form. The encoded protein is recruited by RAB6 onto Golgi membranes and is therefore referred to as RAB6-interacting protein 1. This protein binds with RAB39 as well. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene are associated with early infantile epileptic encephalopathy-49. [provided by RefSeq, Feb 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
G |
A |
14: 66,295,059 (GRCm39) |
S262L |
probably damaging |
Het |
| Adgrf1 |
A |
G |
17: 43,621,098 (GRCm39) |
N445S |
probably benign |
Het |
| Aldh7a1 |
C |
A |
18: 56,681,577 (GRCm39) |
V198L |
probably damaging |
Het |
| Ank2 |
A |
T |
3: 126,781,809 (GRCm39) |
D6E |
probably damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,423,826 (GRCm39) |
F747L |
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cadps |
T |
C |
14: 12,505,937 (GRCm38) |
D711G |
probably damaging |
Het |
| Clspn |
ACGGCGGCGGC |
A |
4: 126,460,230 (GRCm39) |
|
probably null |
Het |
| Cpsf3 |
A |
G |
12: 21,363,806 (GRCm39) |
D632G |
probably benign |
Het |
| Cyp4f18 |
C |
T |
8: 72,754,801 (GRCm39) |
R148H |
probably damaging |
Het |
| Dennd4a |
C |
A |
9: 64,759,857 (GRCm39) |
P321T |
probably damaging |
Het |
| Dipk1b |
C |
T |
2: 26,525,579 (GRCm39) |
P171L |
probably benign |
Het |
| Dnah2 |
G |
A |
11: 69,344,929 (GRCm39) |
T2715M |
probably damaging |
Het |
| Evc2 |
T |
C |
5: 37,537,931 (GRCm39) |
|
probably null |
Het |
| Fkbp8 |
T |
G |
8: 70,987,517 (GRCm39) |
S376A |
probably damaging |
Het |
| Gucy1a2 |
T |
C |
9: 3,582,704 (GRCm39) |
|
probably benign |
Het |
| Gys1 |
C |
T |
7: 45,089,470 (GRCm39) |
P274S |
probably damaging |
Het |
| Hbq1a |
T |
C |
11: 32,250,214 (GRCm39) |
|
probably null |
Het |
| Herc1 |
C |
T |
9: 66,341,075 (GRCm39) |
Q1731* |
probably null |
Het |
| Igfn1 |
A |
G |
1: 135,894,918 (GRCm39) |
Y1883H |
possibly damaging |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Lnx1 |
T |
C |
5: 74,766,750 (GRCm39) |
T455A |
probably benign |
Het |
| Mast2 |
A |
T |
4: 116,170,926 (GRCm39) |
H612Q |
probably damaging |
Het |
| Mcm9 |
G |
A |
10: 53,439,440 (GRCm39) |
H578Y |
probably damaging |
Het |
| Mefv |
A |
G |
16: 3,533,264 (GRCm39) |
S336P |
possibly damaging |
Het |
| Micu1 |
A |
T |
10: 59,586,326 (GRCm39) |
H134L |
probably benign |
Het |
| Mrgprb2 |
C |
T |
7: 48,202,116 (GRCm39) |
G203D |
possibly damaging |
Het |
| Ncapd2 |
T |
C |
6: 125,147,697 (GRCm39) |
I1179V |
probably damaging |
Het |
| Nek7 |
C |
A |
1: 138,462,127 (GRCm39) |
C79F |
probably damaging |
Het |
| Nup210l |
A |
T |
3: 90,100,361 (GRCm39) |
R1462S |
possibly damaging |
Het |
| Or14j6 |
A |
T |
17: 38,214,500 (GRCm39) |
H21L |
probably benign |
Het |
| Or51f1 |
A |
G |
7: 102,505,824 (GRCm39) |
C222R |
probably damaging |
Het |
| Or5al1 |
A |
G |
2: 85,990,282 (GRCm39) |
V144A |
probably benign |
Het |
| Or5b119 |
G |
A |
19: 13,456,806 (GRCm39) |
S252L |
probably benign |
Het |
| Pcnx3 |
A |
G |
19: 5,733,808 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,103,145 (GRCm39) |
|
probably benign |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,177,399 (GRCm39) |
N1320S |
probably benign |
Het |
| Ralgapa2 |
C |
T |
2: 146,277,884 (GRCm39) |
V426I |
probably damaging |
Het |
| Rhobtb2 |
T |
C |
14: 70,031,488 (GRCm39) |
T546A |
possibly damaging |
Het |
| Robo1 |
A |
G |
16: 72,821,226 (GRCm39) |
D1331G |
probably damaging |
Het |
| Sgcz |
A |
G |
8: 37,993,346 (GRCm39) |
|
probably benign |
Het |
| Slc26a1 |
T |
C |
5: 108,821,448 (GRCm39) |
D147G |
possibly damaging |
Het |
| Slc44a5 |
A |
G |
3: 153,877,209 (GRCm39) |
D13G |
probably benign |
Het |
| Slco1a1 |
A |
T |
6: 141,868,833 (GRCm39) |
M377K |
probably damaging |
Het |
| St18 |
T |
A |
1: 6,873,117 (GRCm39) |
L284Q |
probably damaging |
Het |
| Tbc1d9 |
C |
T |
8: 83,960,161 (GRCm39) |
T138I |
probably damaging |
Het |
| Tec |
T |
C |
5: 72,939,520 (GRCm39) |
|
probably null |
Het |
| Tln2 |
G |
A |
9: 67,277,911 (GRCm39) |
P368S |
probably damaging |
Het |
| Tmem131l |
C |
A |
3: 83,817,726 (GRCm39) |
C1257F |
probably damaging |
Het |
| Tmf1 |
C |
A |
6: 97,153,167 (GRCm39) |
R302L |
probably damaging |
Het |
| Tnip3 |
A |
T |
6: 65,574,379 (GRCm39) |
T137S |
possibly damaging |
Het |
| Trim30d |
C |
T |
7: 104,121,728 (GRCm39) |
G339D |
probably damaging |
Het |
| Tspan32 |
T |
A |
7: 142,560,735 (GRCm39) |
M61K |
probably damaging |
Het |
| Ttc6 |
T |
C |
12: 57,744,238 (GRCm39) |
V1290A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,799,593 (GRCm39) |
V429A |
possibly damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,660,358 (GRCm39) |
Y257N |
possibly damaging |
Het |
| Vps13d |
A |
G |
4: 144,875,450 (GRCm39) |
S1686P |
probably damaging |
Het |
| Wdr41 |
A |
G |
13: 95,133,571 (GRCm39) |
E75G |
probably damaging |
Het |
|
| Other mutations in Dennd5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00661:Dennd5a
|
APN |
7 |
109,507,579 (GRCm39) |
missense |
probably benign |
|
|
IGL01338:Dennd5a
|
APN |
7 |
109,518,611 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01618:Dennd5a
|
APN |
7 |
109,533,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02047:Dennd5a
|
APN |
7 |
109,533,991 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02277:Dennd5a
|
APN |
7 |
109,497,176 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02492:Dennd5a
|
APN |
7 |
109,532,844 (GRCm39) |
missense |
probably benign |
|
|
IGL02697:Dennd5a
|
APN |
7 |
109,493,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02935:Dennd5a
|
APN |
7 |
109,520,514 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02986:Dennd5a
|
APN |
7 |
109,534,731 (GRCm39) |
missense |
probably benign |
|
|
IGL03088:Dennd5a
|
APN |
7 |
109,507,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03156:Dennd5a
|
APN |
7 |
109,518,462 (GRCm39) |
splice site |
probably benign |
|
|
IGL03181:Dennd5a
|
APN |
7 |
109,532,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
big_pal
|
UTSW |
7 |
109,518,630 (GRCm39) |
nonsense |
probably null |
|
|
Celestial
|
UTSW |
7 |
109,500,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4434001:Dennd5a
|
UTSW |
7 |
109,532,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0055:Dennd5a
|
UTSW |
7 |
109,498,998 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0055:Dennd5a
|
UTSW |
7 |
109,498,998 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0092:Dennd5a
|
UTSW |
7 |
109,499,013 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0111:Dennd5a
|
UTSW |
7 |
109,533,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0517:Dennd5a
|
UTSW |
7 |
109,533,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0546:Dennd5a
|
UTSW |
7 |
109,520,633 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0811:Dennd5a
|
UTSW |
7 |
109,532,820 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0812:Dennd5a
|
UTSW |
7 |
109,532,820 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0827:Dennd5a
|
UTSW |
7 |
109,498,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0831:Dennd5a
|
UTSW |
7 |
109,533,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1075:Dennd5a
|
UTSW |
7 |
109,517,808 (GRCm39) |
missense |
probably benign |
|
|
R1115:Dennd5a
|
UTSW |
7 |
109,517,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1128:Dennd5a
|
UTSW |
7 |
109,520,541 (GRCm39) |
nonsense |
probably null |
|
|
R1300:Dennd5a
|
UTSW |
7 |
109,518,614 (GRCm39) |
missense |
probably benign |
|
|
R1698:Dennd5a
|
UTSW |
7 |
109,516,587 (GRCm39) |
splice site |
probably null |
|
|
R1711:Dennd5a
|
UTSW |
7 |
109,517,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1771:Dennd5a
|
UTSW |
7 |
109,517,893 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1803:Dennd5a
|
UTSW |
7 |
109,497,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2064:Dennd5a
|
UTSW |
7 |
109,497,900 (GRCm39) |
splice site |
probably benign |
|
|
R2176:Dennd5a
|
UTSW |
7 |
109,504,327 (GRCm39) |
splice site |
probably null |
|
|
R2182:Dennd5a
|
UTSW |
7 |
109,533,201 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2852:Dennd5a
|
UTSW |
7 |
109,532,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2853:Dennd5a
|
UTSW |
7 |
109,532,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3035:Dennd5a
|
UTSW |
7 |
109,520,559 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3835:Dennd5a
|
UTSW |
7 |
109,533,449 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3954:Dennd5a
|
UTSW |
7 |
109,504,906 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3955:Dennd5a
|
UTSW |
7 |
109,504,906 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3957:Dennd5a
|
UTSW |
7 |
109,504,906 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4014:Dennd5a
|
UTSW |
7 |
109,534,688 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4166:Dennd5a
|
UTSW |
7 |
109,526,032 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4362:Dennd5a
|
UTSW |
7 |
109,495,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4567:Dennd5a
|
UTSW |
7 |
109,498,942 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4700:Dennd5a
|
UTSW |
7 |
109,520,405 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4734:Dennd5a
|
UTSW |
7 |
109,495,543 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4914:Dennd5a
|
UTSW |
7 |
109,500,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Dennd5a
|
UTSW |
7 |
109,500,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Dennd5a
|
UTSW |
7 |
109,500,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4992:Dennd5a
|
UTSW |
7 |
109,493,919 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5011:Dennd5a
|
UTSW |
7 |
109,513,983 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5013:Dennd5a
|
UTSW |
7 |
109,513,983 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5034:Dennd5a
|
UTSW |
7 |
109,499,004 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5194:Dennd5a
|
UTSW |
7 |
109,532,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5359:Dennd5a
|
UTSW |
7 |
109,497,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5430:Dennd5a
|
UTSW |
7 |
109,533,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5586:Dennd5a
|
UTSW |
7 |
109,504,928 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5607:Dennd5a
|
UTSW |
7 |
109,518,630 (GRCm39) |
nonsense |
probably null |
|
|
R5608:Dennd5a
|
UTSW |
7 |
109,518,630 (GRCm39) |
nonsense |
probably null |
|
|
R5783:Dennd5a
|
UTSW |
7 |
109,493,843 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5866:Dennd5a
|
UTSW |
7 |
109,518,567 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5890:Dennd5a
|
UTSW |
7 |
109,533,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6053:Dennd5a
|
UTSW |
7 |
109,532,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6247:Dennd5a
|
UTSW |
7 |
109,497,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6362:Dennd5a
|
UTSW |
7 |
109,533,472 (GRCm39) |
nonsense |
probably null |
|
|
R6446:Dennd5a
|
UTSW |
7 |
109,493,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6894:Dennd5a
|
UTSW |
7 |
109,500,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7061:Dennd5a
|
UTSW |
7 |
109,504,386 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7115:Dennd5a
|
UTSW |
7 |
109,493,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7133:Dennd5a
|
UTSW |
7 |
109,495,449 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7302:Dennd5a
|
UTSW |
7 |
109,504,906 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7339:Dennd5a
|
UTSW |
7 |
109,500,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7704:Dennd5a
|
UTSW |
7 |
109,496,174 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7756:Dennd5a
|
UTSW |
7 |
109,520,714 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7838:Dennd5a
|
UTSW |
7 |
109,533,196 (GRCm39) |
missense |
probably benign |
|
|
R7873:Dennd5a
|
UTSW |
7 |
109,526,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8124:Dennd5a
|
UTSW |
7 |
109,497,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8309:Dennd5a
|
UTSW |
7 |
109,500,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8345:Dennd5a
|
UTSW |
7 |
109,504,477 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8560:Dennd5a
|
UTSW |
7 |
109,533,898 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9104:Dennd5a
|
UTSW |
7 |
109,497,713 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9218:Dennd5a
|
UTSW |
7 |
109,507,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9348:Dennd5a
|
UTSW |
7 |
109,498,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9348:Dennd5a
|
UTSW |
7 |
109,498,930 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9566:Dennd5a
|
UTSW |
7 |
109,533,254 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9608:Dennd5a
|
UTSW |
7 |
109,520,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9756:Dennd5a
|
UTSW |
7 |
109,496,174 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9800:Dennd5a
|
UTSW |
7 |
109,500,374 (GRCm39) |
missense |
probably benign |
0.40 |
|
Z1088:Dennd5a
|
UTSW |
7 |
109,504,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Dennd5a
|
UTSW |
7 |
109,493,954 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Z1177:Dennd5a
|
UTSW |
7 |
109,533,231 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTATGCTCTTTCTCCTGGTAGAG -3'
(R):5'- TGATGGAGCCAATTGTTTGC -3'
Sequencing Primer
(F):5'- CTCCTGGTAGAGTCTGCAAAATG -3'
(R):5'- AGCCAATTGTTTGCTGTAGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation