Incidental Mutation 'IGL02092:Cyth3'
| ID |
279472 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyth3
|
| Ensembl Gene |
ENSMUSG00000018001 |
| Gene Name |
cytohesin 3 |
| Synonyms |
Pscd3, Grp1, cytohesin 3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
IGL02092
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
143608202-143696005 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 143693140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053287]
[ENSMUST00000110727]
[ENSMUST00000116456]
|
| AlphaFold |
O08967 |
| PDB Structure |
GRP1 PH DOMAIN WITH INS(1,3,4,5)P4 [X-RAY DIFFRACTION]
GRP1 PH DOMAIN (UNLIGANDED) [X-RAY DIFFRACTION]
Structure of the pleckstrin homology domain from GRP1 in complex with inositol(1,3,4,5,6)pentakisphosphate [X-RAY DIFFRACTION]
Structure of the pleckstrin homology domain from GRP1 in complex with inositol 1,3,4,5-tetrakisphosphate [X-RAY DIFFRACTION]
Triglycine variant of the Grp1 Pleckstrin Homology Domain unliganded [X-RAY DIFFRACTION]
Crystal Structure of Autoinhibited Form of Grp1 Arf GTPase Exchange Factor [X-RAY DIFFRACTION]
Crystal Structure of Autoinhibited Form of Grp1 Arf GTPase Exchange Factor [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053287
|
| SMART Domains |
Protein: ENSMUSP00000053955
Gene: ENSMUSG00000051306
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
77 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
109 |
408 |
1.4e-46 |
PFAM |
|
Pfam:UCH_1
|
110 |
391 |
1.4e-18 |
PFAM |
|
low complexity region
|
470 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
579 |
N/A |
INTRINSIC |
|
low complexity region
|
604 |
613 |
N/A |
INTRINSIC |
|
low complexity region
|
634 |
645 |
N/A |
INTRINSIC |
|
low complexity region
|
954 |
962 |
N/A |
INTRINSIC |
|
low complexity region
|
1016 |
1031 |
N/A |
INTRINSIC |
|
low complexity region
|
1201 |
1219 |
N/A |
INTRINSIC |
|
low complexity region
|
1239 |
1255 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110727
|
| SMART Domains |
Protein: ENSMUSP00000106355
Gene: ENSMUSG00000018001
| Domain | Start | End | E-Value | Type |
|---|
|
Sec7
|
15 |
200 |
1.5e-106 |
SMART |
|
PH
|
217 |
334 |
1.1e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116456
|
| SMART Domains |
Protein: ENSMUSP00000112157
Gene: ENSMUSG00000018001
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
10 |
N/A |
INTRINSIC |
|
low complexity region
|
14 |
35 |
N/A |
INTRINSIC |
|
Sec7
|
63 |
248 |
3.21e-104 |
SMART |
|
PH
|
265 |
382 |
2.36e-24 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PSCD (pleckstrin homology, Sec7 and coiled-coil domains) family. PSCD family members have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This encoded protein is involved in the control of Golgi structure and function, and it may have a physiological role in regulating ADP-ribosylation factor protein 6 (ARF) functions, in addition to acting on ARF1. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010H22Rik |
T |
A |
5: 98,714,627 (GRCm39) |
|
probably benign |
Het |
| Birc7 |
A |
T |
2: 180,574,979 (GRCm39) |
R238S |
probably benign |
Het |
| Cdc42bpg |
C |
A |
19: 6,366,856 (GRCm39) |
|
probably benign |
Het |
| Ces3a |
T |
C |
8: 105,776,962 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
T |
C |
6: 46,211,137 (GRCm39) |
F517S |
probably damaging |
Het |
| Cracr2b |
A |
G |
7: 141,044,869 (GRCm39) |
E201G |
probably damaging |
Het |
| Exoc2 |
A |
T |
13: 31,059,260 (GRCm39) |
N611K |
probably benign |
Het |
| Fign |
A |
T |
2: 63,810,927 (GRCm39) |
N114K |
possibly damaging |
Het |
| Gabrb3 |
A |
G |
7: 57,415,334 (GRCm39) |
T135A |
probably damaging |
Het |
| Htra3 |
T |
C |
5: 35,828,416 (GRCm39) |
K155E |
probably damaging |
Het |
| Inpp5f |
T |
C |
7: 128,286,948 (GRCm39) |
L609S |
probably damaging |
Het |
| Kcp |
C |
A |
6: 29,489,031 (GRCm39) |
|
probably null |
Het |
| Map4k4 |
A |
G |
1: 40,025,943 (GRCm39) |
K311R |
probably benign |
Het |
| Map4k4 |
A |
G |
1: 40,063,508 (GRCm39) |
K1228E |
probably damaging |
Het |
| Muc20 |
G |
A |
16: 32,614,642 (GRCm39) |
S245F |
probably damaging |
Het |
| Or10ak8 |
A |
G |
4: 118,774,187 (GRCm39) |
L159S |
possibly damaging |
Het |
| Or7g33 |
T |
A |
9: 19,449,046 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or8b36 |
T |
G |
9: 37,937,917 (GRCm39) |
S272A |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,136,360 (GRCm39) |
M892T |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,784,637 (GRCm39) |
T234A |
probably damaging |
Het |
| Sema4g |
G |
A |
19: 44,981,078 (GRCm39) |
|
probably null |
Het |
| Slc35a3 |
A |
G |
3: 116,474,781 (GRCm39) |
S204P |
probably damaging |
Het |
| Speer4f2 |
C |
T |
5: 17,581,627 (GRCm39) |
Q190* |
probably null |
Het |
| Szt2 |
A |
G |
4: 118,220,529 (GRCm39) |
|
probably benign |
Het |
| Tacr1 |
T |
C |
6: 82,380,900 (GRCm39) |
Y104H |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,324,120 (GRCm39) |
E173G |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,749,695 (GRCm39) |
I8T |
possibly damaging |
Het |
| Trpv1 |
T |
A |
11: 73,136,905 (GRCm39) |
|
probably benign |
Het |
| Ufsp2 |
T |
C |
8: 46,448,701 (GRCm39) |
|
probably null |
Het |
| Wwc2 |
T |
C |
8: 48,317,570 (GRCm39) |
D669G |
unknown |
Het |
| Zfp940 |
T |
C |
7: 29,545,626 (GRCm39) |
T94A |
probably benign |
Het |
| Zfp947 |
T |
G |
17: 22,366,477 (GRCm39) |
D17A |
probably damaging |
Het |
|
| Other mutations in Cyth3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00953:Cyth3
|
APN |
5 |
143,692,920 (GRCm39) |
splice site |
probably null |
|
|
IGL01340:Cyth3
|
APN |
5 |
143,670,190 (GRCm39) |
nonsense |
probably null |
|
|
IGL01372:Cyth3
|
APN |
5 |
143,678,393 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02850:Cyth3
|
APN |
5 |
143,672,259 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02892:Cyth3
|
APN |
5 |
143,693,192 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0373:Cyth3
|
UTSW |
5 |
143,670,181 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0726:Cyth3
|
UTSW |
5 |
143,678,397 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1217:Cyth3
|
UTSW |
5 |
143,688,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1552:Cyth3
|
UTSW |
5 |
143,683,505 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1623:Cyth3
|
UTSW |
5 |
143,687,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1873:Cyth3
|
UTSW |
5 |
143,683,516 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R3788:Cyth3
|
UTSW |
5 |
143,622,298 (GRCm39) |
intron |
probably benign |
|
|
R4736:Cyth3
|
UTSW |
5 |
143,670,234 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6500:Cyth3
|
UTSW |
5 |
143,693,595 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6824:Cyth3
|
UTSW |
5 |
143,672,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7105:Cyth3
|
UTSW |
5 |
143,693,027 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7143:Cyth3
|
UTSW |
5 |
143,670,151 (GRCm39) |
missense |
unknown |
|
|
R7767:Cyth3
|
UTSW |
5 |
143,693,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7839:Cyth3
|
UTSW |
5 |
143,683,509 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8220:Cyth3
|
UTSW |
5 |
143,687,344 (GRCm39) |
splice site |
probably null |
|
|
R8497:Cyth3
|
UTSW |
5 |
143,678,328 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2015-04-16 |
Incidental Mutation