Mutagenetix > Incidental Mutation

Incidental Mutation 'R1387:Cyth1'

162443

Institutional Source

Beutler Lab

Gene Symbol

Cyth1

Ensembl Gene

ENSMUSG00000017132

Gene Name

cytohesin 1

Synonyms

CLM1, Pscd1, CTH-1

MMRRC Submission

039449-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R1387 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118054996-118139452 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 118073172 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 benign
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 benign
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 benign
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 benign
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 benign
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157494

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.4%

Validation Efficiency

99% (82/83)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610303G11Rik	T	A	9: 98,068,812 (GRCm39)		noncoding transcript	Het
4930447C04Rik	C	A	12: 72,962,208 (GRCm39)	R52L	probably benign	Het
Abca13	C	T	11: 9,632,085 (GRCm39)	Q5002*	probably null	Het
Acacb	T	C	5: 114,338,573 (GRCm39)	I761T	probably benign	Het
Acap3	G	T	4: 155,983,937 (GRCm39)	L134F	probably benign	Het
Adamtsl1	T	C	4: 86,293,230 (GRCm39)		probably benign	Het
Adgrv1	A	G	13: 81,641,295 (GRCm39)	V3278A	possibly damaging	Het
Agxt2	T	C	15: 10,380,696 (GRCm39)	Y196H	probably damaging	Het
Akap13	T	C	7: 75,235,941 (GRCm39)	V172A	probably damaging	Het
Aqp8	A	G	7: 123,065,891 (GRCm39)	I229V	probably benign	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Brd10	A	G	19: 29,700,853 (GRCm39)	I812T	probably benign	Het
Cacng8	T	C	7: 3,463,672 (GRCm39)	S275P	possibly damaging	Het
Catsperg1	T	C	7: 28,906,289 (GRCm39)	Y138C	probably damaging	Het
Ccdc93	T	G	1: 121,418,918 (GRCm39)	L491R	probably damaging	Het
Cntnap2	T	C	6: 47,084,848 (GRCm39)	V1103A	probably benign	Het
Col12a1	C	T	9: 79,588,657 (GRCm39)		probably benign	Het
Col6a3	A	G	1: 90,750,138 (GRCm39)		probably benign	Het
Csf2rb2	C	T	15: 78,182,414 (GRCm39)	A6T	probably damaging	Het
Cyp2j5	T	A	4: 96,522,522 (GRCm39)	S351C	probably damaging	Het
Dock2	A	G	11: 34,223,309 (GRCm39)		probably benign	Het
Duoxa1	T	A	2: 122,134,468 (GRCm39)	I262F	possibly damaging	Het
Dync2h1	T	C	9: 7,125,816 (GRCm39)	D1930G	probably benign	Het
Eeig1	T	C	2: 32,455,635 (GRCm39)	S254P	possibly damaging	Het
Eno1	C	T	4: 150,332,590 (GRCm39)		probably benign	Het
Fam98a	T	A	17: 75,845,264 (GRCm39)	H494L	unknown	Het
Fcamr	C	A	1: 130,732,379 (GRCm39)	T122K	possibly damaging	Het
Foxq1	A	G	13: 31,743,288 (GRCm39)	D130G	probably damaging	Het
Glb1	T	A	9: 114,249,431 (GRCm39)	W5R	probably damaging	Het
Gm17661	GA	GAA	2: 90,917,709 (GRCm38)		noncoding transcript	Het
Gm5431	T	A	11: 48,785,842 (GRCm39)	R178W	possibly damaging	Het
Gys2	C	T	6: 142,407,009 (GRCm39)	V116M	probably benign	Het
Hif1a	C	T	12: 73,989,066 (GRCm39)	T651I	possibly damaging	Het
Itgb5	T	A	16: 33,720,885 (GRCm39)	Y3*	probably null	Het
Kank3	A	G	17: 34,035,205 (GRCm39)	N7S	possibly damaging	Het
Kdm2b	G	T	5: 123,018,331 (GRCm39)	H981Q	probably damaging	Het
Kdm6a	C	T	X: 18,120,235 (GRCm39)		probably benign	Het
Kif1a	A	T	1: 92,983,672 (GRCm39)		probably benign	Het
Knl1	T	A	2: 118,901,211 (GRCm39)	S971T	possibly damaging	Het
Lcn6	T	C	2: 25,567,149 (GRCm39)	V50A	possibly damaging	Het
Llgl2	G	T	11: 115,743,958 (GRCm39)	V762F	probably damaging	Het
Lpcat4	T	C	2: 112,075,021 (GRCm39)	F342L	probably benign	Het
Lrp2	C	A	2: 69,287,262 (GRCm39)	G3725V	probably damaging	Het
Map1b	T	C	13: 99,569,158 (GRCm39)	T1188A	unknown	Het
Mecp2	G	A	X: 73,079,394 (GRCm39)	P362S	possibly damaging	Het
Mideas	C	A	12: 84,199,705 (GRCm39)	R1005L	probably damaging	Het
Mmp13	T	A	9: 7,282,033 (GRCm39)	F445Y	possibly damaging	Het
Myo5b	G	T	18: 74,777,272 (GRCm39)		probably benign	Het
Myo7b	A	G	18: 32,116,805 (GRCm39)		probably benign	Het
Nadk2	C	A	15: 9,106,870 (GRCm39)	L384I	possibly damaging	Het
Napg	A	G	18: 63,119,283 (GRCm39)	I98V	possibly damaging	Het
Ncoa1	G	T	12: 4,324,790 (GRCm39)	N1041K	probably benign	Het
Nmu	A	T	5: 76,497,992 (GRCm39)	C64*	probably null	Het
Nobox	T	A	6: 43,284,132 (GRCm39)	K13M	probably damaging	Het
Nos1	T	C	5: 118,091,848 (GRCm39)		probably benign	Het
Nrg2	A	G	18: 36,329,792 (GRCm39)	V141A	probably damaging	Het
Or1b1	T	G	2: 36,994,880 (GRCm39)	I261L	probably benign	Het
Or2aj5	T	C	16: 19,424,777 (GRCm39)	I214V	probably damaging	Het
Or55b4	T	A	7: 102,133,911 (GRCm39)	I139L	probably benign	Het
Phldb2	C	T	16: 45,646,357 (GRCm39)	E71K	possibly damaging	Het
Pik3r4	T	A	9: 105,521,490 (GRCm39)	Y19N	probably damaging	Het
Pkhd1	A	C	1: 20,625,447 (GRCm39)		probably benign	Het
Pogk	G	T	1: 166,227,707 (GRCm39)	P148Q	possibly damaging	Het
Pten	G	T	19: 32,775,496 (GRCm39)	A79S	probably benign	Het
Ptpdc1	A	T	13: 48,739,796 (GRCm39)	V545E	possibly damaging	Het
Qdpr	G	C	5: 45,607,480 (GRCm39)		probably benign	Het
Rhbdd3	T	A	11: 5,054,121 (GRCm39)	H83Q	probably damaging	Het
Rnf6	A	G	5: 146,148,055 (GRCm39)	V321A	probably benign	Het
Rtf1	T	A	2: 119,536,126 (GRCm39)		probably null	Het
Serpina10	C	T	12: 103,594,500 (GRCm39)	V240I	probably benign	Het
Siah2	A	G	3: 58,598,935 (GRCm39)	V101A	possibly damaging	Het
Taok3	A	G	5: 117,344,720 (GRCm39)	K46R	probably damaging	Het
Tcaf2	A	C	6: 42,601,512 (GRCm39)	L849R	probably damaging	Het
Upf3a	T	C	8: 13,842,118 (GRCm39)	F178S	probably damaging	Het
Vmn1r218	G	A	13: 23,321,478 (GRCm39)	G195D	probably damaging	Het
Vmn2r59	A	G	7: 41,695,521 (GRCm39)	V297A	probably damaging	Het
Vmn2r70	T	A	7: 85,207,969 (GRCm39)	Q836L	probably benign	Het
Zfp473	A	G	7: 44,382,365 (GRCm39)	V655A	probably benign	Het
Zic5	A	G	14: 122,696,897 (GRCm39)	S573P	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- ACTGCTTGTCAACAGCTCCAGAATG -3'
(R):5'- ACAGAAGGATAACTTGCTGAGTGCC -3'

Sequencing Primer
(F):5'- TGTCAACAGCTCCAGAATGGTATG -3'
(R):5'- TTAAAGGCTCAAGTAGGCTCC -3'

Posted On

2014-03-17