Incidental Mutation 'IGL01372:Cyth3'
| ID |
76194 |
| 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: 0.151)
|
| Stock # |
IGL01372
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
143608202-143696005 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143678393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 66
(T66A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110727]
[ENSMUST00000116456]
[ENSMUST00000131436]
[ENSMUST00000177281]
|
| AlphaFold |
O08967 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110727
AA Change: T66A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000106355
Gene: ENSMUSG00000018001
AA Change: T66A
| 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
AA Change: T114A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000112157
Gene: ENSMUSG00000018001
AA Change: T114A
| 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131436
AA Change: T66A
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118290
Gene: ENSMUSG00000018001
AA Change: T66A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec7
|
13 |
70 |
5.9e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177281
|
| SMART Domains |
Protein: ENSMUSP00000135287
Gene: ENSMUSG00000018001
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
43 |
N/A |
INTRINSIC |
|
Blast:Sec7
|
45 |
91 |
1e-11 |
BLAST |
|
PDB:1S9D|E
|
63 |
93 |
4e-8 |
PDB |
|
SCOP:d1pbv__
|
65 |
93 |
7e-8 |
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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
A |
10: 79,842,089 (GRCm39) |
D1049N |
probably benign |
Het |
| Ankdd1a |
A |
T |
9: 65,411,421 (GRCm39) |
L362Q |
probably damaging |
Het |
| Ankib1 |
A |
T |
5: 3,822,594 (GRCm39) |
N37K |
probably damaging |
Het |
| Ankrd55 |
T |
A |
13: 112,459,677 (GRCm39) |
D90E |
probably damaging |
Het |
| Atp1a2 |
T |
C |
1: 172,106,510 (GRCm39) |
R831G |
probably damaging |
Het |
| Bcar3 |
A |
G |
3: 122,316,943 (GRCm39) |
D638G |
probably damaging |
Het |
| Cabp4 |
T |
A |
19: 4,189,322 (GRCm39) |
E78D |
probably benign |
Het |
| Cmtm8 |
A |
G |
9: 114,619,755 (GRCm39) |
V130A |
possibly damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,705,409 (GRCm39) |
I1171F |
possibly damaging |
Het |
| Dnah10 |
G |
A |
5: 124,856,218 (GRCm39) |
G2060D |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,156,134 (GRCm39) |
H172R |
probably damaging |
Het |
| Dnah5 |
C |
T |
15: 28,230,636 (GRCm39) |
A178V |
probably benign |
Het |
| Efcab6 |
T |
G |
15: 83,928,505 (GRCm39) |
M30L |
possibly damaging |
Het |
| Ehbp1l1 |
T |
C |
19: 5,765,817 (GRCm39) |
|
probably benign |
Het |
| Eps15 |
G |
A |
4: 109,179,303 (GRCm39) |
E230K |
probably damaging |
Het |
| Fam91a1 |
A |
G |
15: 58,301,911 (GRCm39) |
I258M |
probably damaging |
Het |
| Gm5581 |
G |
A |
6: 131,145,366 (GRCm39) |
|
noncoding transcript |
Het |
| Hrh1 |
G |
A |
6: 114,456,958 (GRCm39) |
V80I |
probably damaging |
Het |
| Ldhd |
G |
A |
8: 112,355,032 (GRCm39) |
H290Y |
probably benign |
Het |
| Lepr |
G |
A |
4: 101,592,774 (GRCm39) |
E130K |
possibly damaging |
Het |
| Mycbpap |
T |
C |
11: 94,397,282 (GRCm39) |
I40V |
possibly damaging |
Het |
| Nrap |
T |
A |
19: 56,317,534 (GRCm39) |
|
probably null |
Het |
| Opn5 |
T |
A |
17: 42,891,435 (GRCm39) |
|
probably null |
Het |
| Or1j14 |
T |
A |
2: 36,417,463 (GRCm39) |
I13N |
probably benign |
Het |
| Or5ac24 |
A |
G |
16: 59,165,524 (GRCm39) |
I180T |
probably damaging |
Het |
| Otop3 |
A |
T |
11: 115,235,930 (GRCm39) |
T521S |
possibly damaging |
Het |
| Pcsk5 |
T |
G |
19: 17,595,108 (GRCm39) |
T409P |
probably damaging |
Het |
| Pde9a |
T |
A |
17: 31,680,685 (GRCm39) |
F322Y |
probably benign |
Het |
| Pgm5 |
T |
A |
19: 24,710,985 (GRCm39) |
I406F |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,113,942 (GRCm39) |
S1998P |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,102,433 (GRCm39) |
Y2531H |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,445,923 (GRCm39) |
V932A |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,559,437 (GRCm39) |
|
probably benign |
Het |
| Rgsl1 |
T |
A |
1: 153,701,887 (GRCm39) |
Y224F |
probably damaging |
Het |
| Rps6kl1 |
A |
T |
12: 85,193,663 (GRCm39) |
C143S |
probably damaging |
Het |
| S100a7l2 |
A |
G |
3: 90,995,616 (GRCm39) |
|
probably benign |
Het |
| Slc5a5 |
G |
A |
8: 71,343,020 (GRCm39) |
|
probably benign |
Het |
| Tfb2m |
A |
G |
1: 179,369,878 (GRCm39) |
S182P |
probably damaging |
Het |
| Tmc3 |
A |
G |
7: 83,261,746 (GRCm39) |
H608R |
probably damaging |
Het |
| Trim37 |
T |
A |
11: 87,075,772 (GRCm39) |
H459Q |
probably benign |
Het |
| Vmn2r71 |
A |
T |
7: 85,270,022 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,344,334 (GRCm39) |
S2192P |
possibly 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 |
|
|
IGL02092:Cyth3
|
APN |
5 |
143,693,140 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-10-07 |
Incidental Mutation