Mutagenetix > Incidental Mutation

Incidental Mutation 'R5933:Cyth1'

462041

Institutional Source

Beutler Lab

Gene Symbol

Cyth1

Ensembl Gene

ENSMUSG00000017132

Gene Name

cytohesin 1

Synonyms

CLM1, Pscd1, CTH-1

MMRRC Submission

044127-MU

Accession Numbers

Essential gene?

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

Stock #

R5933 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118054996-118139452 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 118076585 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157494

Meta Mutation Damage Score

0.9596

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

94% (99/105)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,776,109 (GRCm39)	P1766L	probably damaging	Het
Abca13	A	G	11: 9,199,658 (GRCm39)	Q119R	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Aipl1	A	C	11: 71,921,108 (GRCm39)	C237G	probably benign	Het
Ankdd1a	C	T	9: 65,416,978 (GRCm39)	A154T	probably benign	Het
Arglu1	T	C	8: 8,740,047 (GRCm39)	S91G	probably benign	Het
Arhgef33	C	A	17: 80,644,709 (GRCm39)	H13N	probably benign	Het
Atp1a4	A	G	1: 172,059,841 (GRCm39)	I796T	possibly damaging	Het
Birc6	C	G	17: 74,906,232 (GRCm39)	S1374R	probably damaging	Het
Birc6	T	A	17: 74,906,233 (GRCm39)	S72T	probably damaging	Het
Bmpr1b	T	C	3: 141,577,128 (GRCm39)	*59W	probably null	Het
Btbd16	A	T	7: 130,386,011 (GRCm39)	Q63L	probably damaging	Het
Cacna1c	C	T	6: 118,589,541 (GRCm39)	R1592H	probably damaging	Het
Caps2	G	A	10: 112,051,351 (GRCm39)	E541K	probably benign	Het
Card9	T	C	2: 26,242,509 (GRCm39)	E500G	probably damaging	Het
Carnmt1	T	C	19: 18,681,469 (GRCm39)	V396A	probably benign	Het
Ccnl1	T	A	3: 65,855,763 (GRCm39)	K320M	probably damaging	Het
Cdh20	A	C	1: 104,912,396 (GRCm39)	D550A	probably damaging	Het
Cdhr1	T	A	14: 36,811,419 (GRCm39)	T231S	probably benign	Het
Cenpe	T	C	3: 134,967,389 (GRCm39)	V2177A	probably benign	Het
Cfap69	A	G	5: 5,690,183 (GRCm39)	C161R	probably damaging	Het
Ctsd	C	T	7: 141,930,316 (GRCm39)	V403I	probably benign	Het
Dazl	A	T	17: 50,594,781 (GRCm39)		probably null	Het
Disp3	A	T	4: 148,325,770 (GRCm39)	C1329*	probably null	Het
Dld	C	T	12: 31,383,982 (GRCm39)	V374I	probably benign	Het
Dnah7c	T	C	1: 46,558,375 (GRCm39)	Y494H	probably damaging	Het
Dnttip2	T	A	3: 122,069,217 (GRCm39)	M144K	probably benign	Het
Drc1	A	T	5: 30,502,873 (GRCm39)	D132V	probably damaging	Het
Enpp6	A	G	8: 47,519,039 (GRCm39)	D269G	probably benign	Het
Ephx4	T	A	5: 107,551,631 (GRCm39)		probably null	Het
Evl	T	C	12: 108,649,516 (GRCm39)	S345P	possibly damaging	Het
Fam193a	A	T	5: 34,623,024 (GRCm39)	D1204V	probably damaging	Het
Fat2	A	T	11: 55,174,877 (GRCm39)	D1945E	probably damaging	Het
Fat4	T	C	3: 39,005,524 (GRCm39)		probably null	Het
Fbln7	A	T	2: 128,719,418 (GRCm39)	M72L	probably benign	Het
Flnc	T	C	6: 29,441,105 (GRCm39)	V353A	probably damaging	Het
Fry	T	C	5: 150,314,265 (GRCm39)		probably benign	Het
Galnt14	A	T	17: 73,833,300 (GRCm39)	C225S	probably benign	Het
Gapvd1	T	C	2: 34,574,303 (GRCm39)	S1265G	probably benign	Het
Gm13030	A	G	4: 138,598,515 (GRCm39)	F136S	unknown	Het
Gucy1a1	T	C	3: 82,002,114 (GRCm39)	H655R	probably damaging	Het
Hk1	A	G	10: 62,105,773 (GRCm39)	L890P	probably damaging	Het
Igfn1	T	A	1: 135,898,341 (GRCm39)	R742*	probably null	Het
Igkv12-49	T	C	6: 69,693,553 (GRCm39)		noncoding transcript	Het
Igkv2-109	T	A	6: 68,279,965 (GRCm39)	L62Q	possibly damaging	Het
Itgb3	A	G	11: 104,528,805 (GRCm39)	T311A	possibly damaging	Het
Kl	A	G	5: 150,912,948 (GRCm39)	E899G	probably damaging	Het
Kyat3	A	T	3: 142,429,021 (GRCm39)	D151V	probably damaging	Het
Morc2b	A	T	17: 33,357,583 (GRCm39)	M63K	possibly damaging	Het
Mtbp	T	A	15: 55,434,723 (GRCm39)	F298L	possibly damaging	Het
Mtmr3	C	T	11: 4,448,951 (GRCm39)	V272I	probably benign	Het
Muc4	A	G	16: 32,574,480 (GRCm39)	T977A	probably benign	Het
Nebl	G	A	2: 17,408,998 (GRCm39)	H367Y	probably benign	Het
Nop58	T	A	1: 59,743,824 (GRCm39)	Y274*	probably null	Het
Nuak1	T	A	10: 84,210,666 (GRCm39)	Q474L	probably damaging	Het
Obscn	A	G	11: 58,889,331 (GRCm39)	S7523P	unknown	Het
Oosp3	T	A	19: 11,682,753 (GRCm39)	D140E	probably benign	Het
Or52z15	T	A	7: 103,332,680 (GRCm39)	C242S	probably damaging	Het
Padi2	G	A	4: 140,644,952 (GRCm39)	R62H	probably benign	Het
Patl1	A	G	19: 11,917,136 (GRCm39)	N661S	probably benign	Het
Pcyox1l	G	T	18: 61,831,544 (GRCm39)	N238K	probably benign	Het
Pmch	A	G	10: 87,927,011 (GRCm39)	T5A	probably benign	Het
Polr3h	A	G	15: 81,800,835 (GRCm39)	L169P	probably damaging	Het
Ptpn4	A	G	1: 119,615,453 (GRCm39)	V567A	probably damaging	Het
Rasgrp2	T	G	19: 6,452,543 (GRCm39)	F39V	probably damaging	Het
Setd1b	G	A	5: 123,296,815 (GRCm39)		probably benign	Het
Sh3glb2	A	T	2: 30,240,401 (GRCm39)		probably null	Het
Slc46a3	A	T	5: 147,830,700 (GRCm39)	N44K	probably benign	Het
Slc9b1	T	A	3: 135,099,756 (GRCm39)	N425K	probably benign	Het
Slfn14	A	T	11: 83,170,288 (GRCm39)	V452E	probably damaging	Het
Slfn8	A	T	11: 82,894,161 (GRCm39)	M826K	probably benign	Het
Slit3	G	A	11: 35,520,578 (GRCm39)	V572M	probably benign	Het
Smr3a	C	A	5: 88,155,873 (GRCm39)		probably null	Het
Snap29	T	C	16: 17,224,194 (GRCm39)	S70P	probably damaging	Het
Svopl	T	A	6: 37,993,949 (GRCm39)		probably benign	Het
Tbc1d17	A	T	7: 44,494,761 (GRCm39)	F186I	probably damaging	Het
Tgm6	T	C	2: 129,983,176 (GRCm39)	V255A	probably damaging	Het
Tjp1	G	T	7: 64,952,600 (GRCm39)	T1498K	probably benign	Het
Tkfc	C	A	19: 10,574,711 (GRCm39)	E176D	probably benign	Het
Tmem102	C	T	11: 69,694,506 (GRCm39)	V489I	probably damaging	Het
Ttn	A	G	2: 76,551,781 (GRCm39)	V22930A	probably damaging	Het
Tyms	A	T	5: 30,278,357 (GRCm39)		probably null	Het
Uaca	T	A	9: 60,748,238 (GRCm39)	D67E	probably damaging	Het
Unc119b	G	A	5: 115,265,508 (GRCm39)		probably benign	Het
Usp29	A	T	7: 6,964,744 (GRCm39)	T196S	probably benign	Het
Usp37	A	G	1: 74,525,141 (GRCm39)	S228P	probably damaging	Het
Usp42	C	A	5: 143,701,270 (GRCm39)	A918S	probably benign	Het
Vmn2r72	T	A	7: 85,387,058 (GRCm39)	L835F	probably benign	Het
Vps13a	T	C	19: 16,637,894 (GRCm39)	T2396A	probably benign	Het
Whrn	A	T	4: 63,412,945 (GRCm39)	S176T	probably damaging	Het
Zbtb42	T	C	12: 112,647,055 (GRCm39)	F410S	probably damaging	Het
Zfp616	T	C	11: 73,973,952 (GRCm39)	S74P	probably damaging	Het
Zswim6	A	G	13: 107,880,642 (GRCm39)		noncoding transcript	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
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'- AAAGAGCAGTGATGCTGGCC -3'
(R):5'- TTAGAGCAATCTTCCCACAGTG -3'

Sequencing Primer
(F):5'- CTGGAGCCTGAGCCAGTAAAC -3'
(R):5'- AATCTTCCCACAGTGTCGGTG -3'

Posted On

2017-02-28