Incidental Mutation 'R6609:Cyth1'
| ID |
525844 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyth1
|
| Ensembl Gene |
ENSMUSG00000017132 |
| Gene Name |
cytohesin 1 |
| Synonyms |
CLM1, Pscd1, CTH-1 |
| MMRRC Submission |
044732-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R6609 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
118054996-118139452 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 118061686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 309
(L309Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017276
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017276]
[ENSMUST00000100181]
[ENSMUST00000106302]
[ENSMUST00000106305]
|
| AlphaFold |
Q9QX11 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017276
AA Change: L309Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000017276
Gene: ENSMUSG00000017132
AA Change: L309Q
| Domain | Start | End | E-Value | Type |
|---|
|
Sec7
|
59 |
244 |
1.38e-108 |
SMART |
|
PH
|
261 |
378 |
4.8e-25 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100181
AA Change: L323Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097756
Gene: ENSMUSG00000017132
AA Change: L323Q
| Domain | Start | End | E-Value | Type |
|---|
|
Sec7
|
73 |
258 |
1.38e-108 |
SMART |
|
PH
|
275 |
392 |
1.65e-23 |
SMART |
|
low complexity region
|
402 |
425 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106302
AA Change: L312Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000101909
Gene: ENSMUSG00000017132
AA Change: L312Q
| Domain | Start | End | E-Value | Type |
|---|
|
Sec7
|
61 |
246 |
1.38e-108 |
SMART |
|
PH
|
263 |
381 |
4.18e-25 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106305
AA Change: L310Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101912
Gene: ENSMUSG00000017132
AA Change: L310Q
| Domain | Start | End | E-Value | Type |
|---|
|
Sec7
|
59 |
244 |
1.38e-108 |
SMART |
|
PH
|
261 |
379 |
4.18e-25 |
SMART |
|
| Meta Mutation Damage Score |
0.9164 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the PSCD family. Members of this family 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 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 gene is highly expressed in natural killer and peripheral T cells, and regulates the adhesiveness of integrins at the plasma membrane of lymphocytes. A pseudogene of this gene has been defined on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit normal brain morphology and long term potentiation. Mice homozygous for a knock-out allele exhibit decreased myelin sheath thickness due to hypomyelination. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
C |
T |
12: 118,892,497 (GRCm39) |
V421I |
probably damaging |
Het |
| Bpifb3 |
T |
A |
2: 153,762,568 (GRCm39) |
|
probably null |
Het |
| C1rl |
T |
C |
6: 124,485,583 (GRCm39) |
V318A |
probably benign |
Het |
| Cacna1b |
C |
T |
2: 24,543,061 (GRCm39) |
V1264M |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,041,129 (GRCm39) |
D1551G |
probably benign |
Het |
| Cdc42bpa |
T |
G |
1: 179,928,839 (GRCm39) |
|
probably null |
Het |
| Cdc7 |
G |
A |
5: 107,120,924 (GRCm39) |
R182H |
probably benign |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
G |
A |
6: 73,030,678 (GRCm39) |
T3378I |
possibly damaging |
Het |
| Get4 |
A |
G |
5: 139,254,820 (GRCm39) |
|
probably benign |
Het |
| Gm136 |
T |
A |
4: 34,746,526 (GRCm39) |
M162L |
probably benign |
Het |
| Grik5 |
G |
T |
7: 24,714,951 (GRCm39) |
S681* |
probably null |
Het |
| Hsf5 |
C |
T |
11: 87,526,779 (GRCm39) |
P484S |
probably damaging |
Het |
| Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
| Kl |
A |
T |
5: 150,912,427 (GRCm39) |
K725N |
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,646,735 (GRCm39) |
V144M |
probably damaging |
Het |
| Lrrc14 |
T |
C |
15: 76,598,453 (GRCm39) |
V363A |
probably benign |
Het |
| Mettl15 |
T |
C |
2: 108,967,687 (GRCm39) |
R200G |
probably null |
Het |
| Mki67 |
T |
C |
7: 135,301,558 (GRCm39) |
T1159A |
possibly damaging |
Het |
| Muc6 |
G |
C |
7: 141,226,700 (GRCm39) |
|
probably benign |
Het |
| Ndufb5 |
C |
G |
3: 32,795,832 (GRCm39) |
T8R |
probably benign |
Het |
| Or4f60 |
T |
C |
2: 111,902,509 (GRCm39) |
M140V |
probably benign |
Het |
| Or6ae1 |
C |
A |
7: 139,742,476 (GRCm39) |
R129L |
probably benign |
Het |
| Pde1a |
T |
A |
2: 79,736,484 (GRCm39) |
D15V |
probably damaging |
Het |
| Plcg2 |
G |
A |
8: 118,294,909 (GRCm39) |
G191S |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,408,829 (GRCm39) |
T1895A |
probably damaging |
Het |
| Pxdn |
T |
C |
12: 30,052,940 (GRCm39) |
V1039A |
probably benign |
Het |
| Slc26a5 |
T |
C |
5: 22,024,717 (GRCm39) |
I456V |
possibly damaging |
Het |
| Smco4 |
C |
T |
9: 15,456,031 (GRCm39) |
A39V |
probably damaging |
Het |
| Tmem102 |
T |
A |
11: 69,695,940 (GRCm39) |
L40F |
probably damaging |
Het |
| Ylpm1 |
C |
G |
12: 85,062,051 (GRCm39) |
P651A |
unknown |
Het |
| Zfp985 |
A |
T |
4: 147,667,578 (GRCm39) |
M149L |
probably benign |
Het |
| Zfp985 |
T |
C |
4: 147,668,124 (GRCm39) |
F331L |
probably damaging |
Het |
|
| Other mutations in Cyth1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01327:Cyth1
|
APN |
11 |
118,084,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02047:Cyth1
|
APN |
11 |
118,059,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02658:Cyth1
|
APN |
11 |
118,073,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02826:Cyth1
|
APN |
11 |
118,076,307 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Mucilage
|
UTSW |
11 |
118,061,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Stuck
|
UTSW |
11 |
118,076,585 (GRCm39) |
critical splice donor site |
probably null |
|
|
tarred
|
UTSW |
11 |
118,074,749 (GRCm39) |
nonsense |
probably null |
|
|
R0109:Cyth1
|
UTSW |
11 |
118,073,132 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0109:Cyth1
|
UTSW |
11 |
118,073,132 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0470:Cyth1
|
UTSW |
11 |
118,023,074 (GRCm39) |
unclassified |
probably benign |
|
|
R1387:Cyth1
|
UTSW |
11 |
118,073,172 (GRCm39) |
unclassified |
probably benign |
|
|
R1599:Cyth1
|
UTSW |
11 |
118,068,047 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2098:Cyth1
|
UTSW |
11 |
118,084,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2156:Cyth1
|
UTSW |
11 |
118,073,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3546:Cyth1
|
UTSW |
11 |
118,083,262 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4300:Cyth1
|
UTSW |
11 |
118,074,720 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4589:Cyth1
|
UTSW |
11 |
118,075,811 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4799:Cyth1
|
UTSW |
11 |
118,074,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5165:Cyth1
|
UTSW |
11 |
118,059,908 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5524:Cyth1
|
UTSW |
11 |
118,073,593 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5834:Cyth1
|
UTSW |
11 |
118,083,289 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5933:Cyth1
|
UTSW |
11 |
118,076,585 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5960:Cyth1
|
UTSW |
11 |
118,023,193 (GRCm39) |
unclassified |
probably benign |
|
|
R7014:Cyth1
|
UTSW |
11 |
118,103,477 (GRCm39) |
missense |
probably benign |
|
|
R7108:Cyth1
|
UTSW |
11 |
118,073,739 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7237:Cyth1
|
UTSW |
11 |
118,076,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7401:Cyth1
|
UTSW |
11 |
118,073,077 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7424:Cyth1
|
UTSW |
11 |
118,074,835 (GRCm39) |
splice site |
probably null |
|
|
R7523:Cyth1
|
UTSW |
11 |
118,074,749 (GRCm39) |
nonsense |
probably null |
|
|
R7574:Cyth1
|
UTSW |
11 |
118,073,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7647:Cyth1
|
UTSW |
11 |
118,068,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7731:Cyth1
|
UTSW |
11 |
118,059,879 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7848:Cyth1
|
UTSW |
11 |
118,074,749 (GRCm39) |
nonsense |
probably null |
|
|
R7849:Cyth1
|
UTSW |
11 |
118,074,749 (GRCm39) |
nonsense |
probably null |
|
|
R8755:Cyth1
|
UTSW |
11 |
118,074,768 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8781:Cyth1
|
UTSW |
11 |
118,073,069 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9045:Cyth1
|
UTSW |
11 |
118,073,090 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9062:Cyth1
|
UTSW |
11 |
118,023,142 (GRCm39) |
missense |
unknown |
|
|
R9299:Cyth1
|
UTSW |
11 |
118,059,837 (GRCm39) |
splice site |
probably benign |
|
|
R9393:Cyth1
|
UTSW |
11 |
118,074,710 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9476:Cyth1
|
UTSW |
11 |
118,076,206 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9510:Cyth1
|
UTSW |
11 |
118,076,206 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0063:Cyth1
|
UTSW |
11 |
118,023,155 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TATGGGTGCTCACAGCTGTG -3'
(R):5'- GACCCTATTGTTAGAACCCAAGC -3'
Sequencing Primer
(F):5'- CCTAGATCTTGGTTCAAAGTCAGC -3'
(R):5'- TTGTTAGAACCCAAGCATGGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation