Incidental Mutation 'R8372:Cyth4'
| ID |
646514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyth4
|
| Ensembl Gene |
ENSMUSG00000018008 |
| Gene Name |
cytohesin 4 |
| Synonyms |
Pscd4, 2510004M07Rik, 5830469K17Rik |
| MMRRC Submission |
067875-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R8372 (G1)
|
| Quality Score |
183.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
78481247-78506219 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
A to G
at 78481335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043069]
[ENSMUST00000229248]
[ENSMUST00000229256]
[ENSMUST00000229295]
[ENSMUST00000229717]
[ENSMUST00000229796]
[ENSMUST00000231168]
[ENSMUST00000231180]
|
| AlphaFold |
Q80YW0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043069
|
| SMART Domains |
Protein: ENSMUSP00000042698
Gene: ENSMUSG00000018008
| Domain | Start | End | E-Value | Type |
|---|
|
Sec7
|
58 |
243 |
1.05e-90 |
SMART |
|
PH
|
260 |
377 |
2.11e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229248
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229256
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229295
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229717
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229796
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231168
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231180
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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 family of proteins, which have 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 function as GEPs for ADP-ribosylation factors (ARFs), which are guanine nucleotide-binding proteins involved in vesicular trafficking pathways. This protein exhibits GEP activity in vitro with ARF1 and ARF5, but is inactive with ARF6. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
G |
16: 4,682,152 (GRCm39) |
D155G |
probably damaging |
Het |
| Adgrg7 |
T |
A |
16: 56,616,114 (GRCm39) |
|
probably benign |
Het |
| Agap2 |
T |
C |
10: 126,925,185 (GRCm39) |
S833P |
unknown |
Het |
| B4galnt2 |
T |
C |
11: 95,760,106 (GRCm39) |
E307G |
possibly damaging |
Het |
| Bcl9l |
A |
G |
9: 44,418,528 (GRCm39) |
M826V |
probably benign |
Het |
| C2cd3 |
C |
T |
7: 100,104,487 (GRCm39) |
Q2167* |
probably null |
Het |
| Ccdc7a |
T |
C |
8: 129,547,585 (GRCm39) |
E1289G |
possibly damaging |
Het |
| Cep290 |
T |
C |
10: 100,385,203 (GRCm39) |
V1893A |
probably benign |
Het |
| Clec4g |
T |
C |
8: 3,757,990 (GRCm39) |
|
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,794,479 (GRCm39) |
E738G |
probably damaging |
Het |
| Dab2 |
A |
C |
15: 6,446,406 (GRCm39) |
S8R |
possibly damaging |
Het |
| Dclk3 |
A |
G |
9: 111,314,081 (GRCm39) |
D719G |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,111,514 (GRCm39) |
V2540A |
possibly damaging |
Het |
| Elavl1 |
T |
C |
8: 4,339,664 (GRCm39) |
N306S |
probably damaging |
Het |
| Ercc6l2 |
T |
C |
13: 64,001,563 (GRCm39) |
V459A |
probably damaging |
Het |
| Fcgr2b |
A |
G |
1: 170,793,330 (GRCm39) |
V233A |
probably benign |
Het |
| Gfm2 |
T |
C |
13: 97,301,552 (GRCm39) |
S452P |
possibly damaging |
Het |
| Gpr15 |
A |
G |
16: 58,538,850 (GRCm39) |
F80L |
probably benign |
Het |
| Ighv13-2 |
A |
T |
12: 114,321,681 (GRCm39) |
C19* |
probably null |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Klhl33 |
C |
T |
14: 51,129,689 (GRCm39) |
R312Q |
probably damaging |
Het |
| Klhl9 |
A |
G |
4: 88,639,596 (GRCm39) |
L215P |
probably damaging |
Het |
| Krtap20-1 |
G |
C |
16: 88,812,385 (GRCm39) |
G57R |
unknown |
Het |
| Or9k2b |
A |
G |
10: 130,016,656 (GRCm39) |
F31S |
probably damaging |
Het |
| Parp8 |
T |
A |
13: 116,991,786 (GRCm39) |
Q872H |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,042,696 (GRCm39) |
S1531P |
probably damaging |
Het |
| Psg16 |
A |
G |
7: 16,829,240 (GRCm39) |
T275A |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,230,688 (GRCm39) |
T260A |
possibly damaging |
Het |
| Rapgef1 |
G |
A |
2: 29,600,243 (GRCm39) |
G655S |
probably damaging |
Het |
| Rbm15b |
T |
C |
9: 106,762,762 (GRCm39) |
M19V |
|
Het |
| Rbm42 |
A |
G |
7: 30,340,631 (GRCm39) |
S447P |
unknown |
Het |
| Rsf1 |
T |
C |
7: 97,311,624 (GRCm39) |
S785P |
|
Het |
| Scnn1a |
A |
G |
6: 125,320,681 (GRCm39) |
N578S |
probably damaging |
Het |
| Slc39a7 |
T |
C |
17: 34,249,639 (GRCm39) |
N169D |
probably damaging |
Het |
| Spp1 |
A |
G |
5: 104,588,122 (GRCm39) |
T175A |
probably benign |
Het |
| Tigd5 |
A |
G |
15: 75,782,337 (GRCm39) |
H233R |
probably benign |
Het |
| Tmprss3 |
C |
T |
17: 31,403,671 (GRCm39) |
V377I |
probably benign |
Het |
| Vmn1r75 |
A |
T |
7: 11,614,657 (GRCm39) |
I130F |
probably benign |
Het |
| Xpo4 |
A |
G |
14: 57,835,341 (GRCm39) |
|
probably null |
Het |
| Xrn1 |
A |
G |
9: 95,906,166 (GRCm39) |
T1186A |
probably benign |
Het |
| Zcchc4 |
T |
C |
5: 52,953,506 (GRCm39) |
Y172H |
probably damaging |
Het |
|
| Other mutations in Cyth4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00936:Cyth4
|
APN |
15 |
78,504,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0522:Cyth4
|
UTSW |
15 |
78,499,985 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0584:Cyth4
|
UTSW |
15 |
78,494,078 (GRCm39) |
splice site |
probably null |
|
|
R2018:Cyth4
|
UTSW |
15 |
78,492,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3804:Cyth4
|
UTSW |
15 |
78,494,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3811:Cyth4
|
UTSW |
15 |
78,488,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4728:Cyth4
|
UTSW |
15 |
78,486,913 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4738:Cyth4
|
UTSW |
15 |
78,490,074 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5392:Cyth4
|
UTSW |
15 |
78,491,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5594:Cyth4
|
UTSW |
15 |
78,491,275 (GRCm39) |
splice site |
probably null |
|
|
R6414:Cyth4
|
UTSW |
15 |
78,492,346 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7241:Cyth4
|
UTSW |
15 |
78,491,245 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7472:Cyth4
|
UTSW |
15 |
78,490,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8253:Cyth4
|
UTSW |
15 |
78,486,937 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8952:Cyth4
|
UTSW |
15 |
78,486,937 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1177:Cyth4
|
UTSW |
15 |
78,504,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTACTCAGATGCCAGGGTC -3'
(R):5'- CAACCACTCAGATGCCTGTG -3'
Sequencing Primer
(F):5'- GTCTGAGCTAACTGGTGAAACTC -3'
(R):5'- CTACCTCTGCACATGGAGTTTGAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation