Incidental Mutation 'IGL01327:Cyth1'
| ID |
74345 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyth1
|
| Ensembl Gene |
ENSMUSG00000017132 |
| Gene Name |
cytohesin 1 |
| Synonyms |
CLM1, Pscd1, CTH-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
IGL01327
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
118054996-118139452 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 118084439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017276]
[ENSMUST00000100181]
[ENSMUST00000106302]
[ENSMUST00000106305]
[ENSMUST00000151165]
|
| AlphaFold |
Q9QX11 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000017276
|
| SMART Domains |
Protein: ENSMUSP00000017276
Gene: ENSMUSG00000017132
| Domain | Start | End | E-Value | Type |
|---|
|
Sec7
|
59 |
244 |
1.38e-108 |
SMART |
|
PH
|
261 |
378 |
4.8e-25 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000100181
|
| SMART Domains |
Protein: ENSMUSP00000097756
Gene: ENSMUSG00000017132
| 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 null
Transcript: ENSMUST00000106302
|
| SMART Domains |
Protein: ENSMUSP00000101909
Gene: ENSMUSG00000017132
| Domain | Start | End | E-Value | Type |
|---|
|
Sec7
|
61 |
246 |
1.38e-108 |
SMART |
|
PH
|
263 |
381 |
4.18e-25 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106305
|
| SMART Domains |
Protein: ENSMUSP00000101912
Gene: ENSMUSG00000017132
| Domain | Start | End | E-Value | Type |
|---|
|
Sec7
|
59 |
244 |
1.38e-108 |
SMART |
|
PH
|
261 |
379 |
4.18e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131115
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141243
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000151165
|
| SMART Domains |
Protein: ENSMUSP00000114792
Gene: ENSMUSG00000017132
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1pbv__
|
55 |
99 |
4e-15 |
SMART |
|
PDB:1BC9|A
|
60 |
99 |
9e-21 |
PDB |
|
Blast:Sec7
|
61 |
99 |
1e-20 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
A |
4: 148,029,521 (GRCm39) |
V497E |
probably damaging |
Het |
| Adcy7 |
T |
G |
8: 89,045,418 (GRCm39) |
|
probably benign |
Het |
| Aldh1a2 |
T |
A |
9: 71,193,248 (GRCm39) |
F486I |
possibly damaging |
Het |
| Alox12 |
T |
A |
11: 70,145,375 (GRCm39) |
H66L |
probably benign |
Het |
| Apoh |
T |
G |
11: 108,288,187 (GRCm39) |
Y102D |
probably damaging |
Het |
| Arl9 |
T |
C |
5: 77,154,401 (GRCm39) |
V43A |
possibly damaging |
Het |
| Atf6 |
A |
G |
1: 170,616,175 (GRCm39) |
|
probably null |
Het |
| Atp4a |
T |
A |
7: 30,412,675 (GRCm39) |
I127N |
possibly damaging |
Het |
| AY358078 |
T |
A |
14: 52,043,166 (GRCm39) |
|
probably benign |
Het |
| Baat |
T |
G |
4: 49,490,338 (GRCm39) |
K249Q |
probably damaging |
Het |
| Brat1 |
C |
T |
5: 140,703,963 (GRCm39) |
Q739* |
probably null |
Het |
| C8g |
A |
G |
2: 25,389,089 (GRCm39) |
F165L |
probably damaging |
Het |
| Cel |
T |
G |
2: 28,447,967 (GRCm39) |
D353A |
possibly damaging |
Het |
| Col6a1 |
G |
T |
10: 76,546,813 (GRCm39) |
T803K |
unknown |
Het |
| Cpxm1 |
A |
G |
2: 130,238,277 (GRCm39) |
L95P |
probably benign |
Het |
| Ctsr |
A |
G |
13: 61,310,489 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
A |
T |
12: 110,583,126 (GRCm39) |
|
probably benign |
Het |
| Ezh1 |
C |
T |
11: 101,094,262 (GRCm39) |
C407Y |
probably damaging |
Het |
| Fam243 |
T |
C |
16: 92,117,661 (GRCm39) |
Y209C |
probably benign |
Het |
| Gm3696 |
A |
T |
14: 18,435,903 (GRCm39) |
W38R |
probably benign |
Het |
| Gm9611 |
T |
C |
14: 42,116,622 (GRCm39) |
T39A |
possibly damaging |
Het |
| Gnpat |
T |
A |
8: 125,605,372 (GRCm39) |
L287H |
probably damaging |
Het |
| Golm1 |
G |
T |
13: 59,792,958 (GRCm39) |
N182K |
possibly damaging |
Het |
| Hdac6 |
T |
C |
X: 7,798,013 (GRCm39) |
M899V |
probably benign |
Het |
| Hsf3 |
T |
A |
X: 95,358,578 (GRCm39) |
M272L |
probably benign |
Het |
| Kif19a |
C |
T |
11: 114,672,625 (GRCm39) |
|
probably benign |
Het |
| Lcn2 |
T |
G |
2: 32,276,030 (GRCm39) |
Y100S |
possibly damaging |
Het |
| Lrrc8d |
T |
A |
5: 105,960,131 (GRCm39) |
S180R |
probably damaging |
Het |
| Ly6h |
A |
G |
15: 75,436,948 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,403,705 (GRCm39) |
N705D |
probably benign |
Het |
| Mst1r |
C |
T |
9: 107,785,043 (GRCm39) |
P234S |
probably benign |
Het |
| Msto1 |
T |
A |
3: 88,817,939 (GRCm39) |
|
probably null |
Het |
| Myo5a |
T |
A |
9: 75,094,820 (GRCm39) |
|
probably benign |
Het |
| Nipa1 |
T |
C |
7: 55,629,409 (GRCm39) |
I235V |
probably benign |
Het |
| Nlgn3 |
T |
C |
X: 100,362,228 (GRCm39) |
V399A |
probably benign |
Het |
| Or1d2 |
T |
A |
11: 74,255,738 (GRCm39) |
M81K |
possibly damaging |
Het |
| Or2b28 |
A |
G |
13: 21,531,377 (GRCm39) |
N93S |
probably benign |
Het |
| Pih1d1 |
T |
C |
7: 44,809,399 (GRCm39) |
S289P |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,905,508 (GRCm39) |
N1596D |
probably benign |
Het |
| Psmb6 |
T |
A |
11: 70,417,412 (GRCm39) |
S114R |
possibly damaging |
Het |
| Pum1 |
C |
A |
4: 130,457,854 (GRCm39) |
Q289K |
probably damaging |
Het |
| Shkbp1 |
T |
C |
7: 27,054,676 (GRCm39) |
I75V |
probably benign |
Het |
| Slc24a3 |
T |
A |
2: 145,444,478 (GRCm39) |
I284N |
probably benign |
Het |
| Slc44a3 |
C |
T |
3: 121,320,842 (GRCm39) |
G53D |
probably damaging |
Het |
| Slc9a4 |
A |
C |
1: 40,668,565 (GRCm39) |
D736A |
probably benign |
Het |
| Stra6 |
A |
G |
9: 58,059,854 (GRCm39) |
D605G |
probably benign |
Het |
| Tas2r126 |
T |
A |
6: 42,411,684 (GRCm39) |
H72Q |
probably benign |
Het |
| Tbrg1 |
C |
T |
9: 37,564,408 (GRCm39) |
R166Q |
probably benign |
Het |
| Thumpd1 |
C |
T |
7: 119,319,925 (GRCm39) |
G14R |
probably benign |
Het |
| Ticrr |
C |
T |
7: 79,344,209 (GRCm39) |
T1358I |
probably benign |
Het |
| Tmtc2 |
A |
T |
10: 105,184,340 (GRCm39) |
N518K |
probably benign |
Het |
| Trpm4 |
C |
A |
7: 44,964,497 (GRCm39) |
W533C |
probably damaging |
Het |
| Tsen54 |
T |
C |
11: 115,712,538 (GRCm39) |
Y119H |
possibly damaging |
Het |
| Tulp3 |
G |
A |
6: 128,304,597 (GRCm39) |
T219M |
probably damaging |
Het |
| Usp19 |
T |
C |
9: 108,376,160 (GRCm39) |
L1000S |
possibly damaging |
Het |
| Vps16 |
A |
T |
2: 130,279,616 (GRCm39) |
Y43F |
probably benign |
Het |
| Vsig1 |
T |
A |
X: 139,838,429 (GRCm39) |
V283E |
possibly damaging |
Het |
|
| Other mutations in Cyth1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R6609:Cyth1
|
UTSW |
11 |
118,061,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation