Mutagenetix > Incidental Mutation

Incidental Mutation 'R4799:Cyth1'

369363

Institutional Source

Beutler Lab

Gene Symbol

Cyth1

Ensembl Gene

ENSMUSG00000017132

Gene Name

cytohesin 1

Synonyms

CLM1, Pscd1, CTH-1

MMRRC Submission

041997-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R4799 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118054996-118139452 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118074768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 164 (M164V)

Ref Sequence

ENSEMBL: ENSMUSP00000101912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017276] [ENSMUST00000100181] [ENSMUST00000106302] [ENSMUST00000106305] [ENSMUST00000151165]

AlphaFold

Q9QX11

Predicted Effect

probably damaging
Transcript: ENSMUST00000017276
AA Change: M164V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000017276
Gene: ENSMUSG00000017132
AA Change: M164V

Domain	Start	End	E-Value	Type
Sec7	59	244	1.38e-108	SMART
PH	261	378	4.8e-25	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100181
AA Change: M178V

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097756
Gene: ENSMUSG00000017132
AA Change: M178V

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: M166V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101909
Gene: ENSMUSG00000017132
AA Change: M166V

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: M164V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101912
Gene: ENSMUSG00000017132
AA Change: M164V

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

Meta Mutation Damage Score

0.6095

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.6%

Validation Efficiency

97% (122/126)

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: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	C	G	12: 70,215,838 (GRCm39)	S170C	probably damaging	Het
Acads	T	A	5: 115,251,149 (GRCm39)	T112S	probably benign	Het
Adgrl1	A	G	8: 84,662,202 (GRCm39)	H1021R	probably benign	Het
Ago3	A	T	4: 126,241,665 (GRCm39)		probably null	Het
Ap5m1	A	G	14: 49,318,527 (GRCm39)	K412E	probably benign	Het
Arid1b	C	T	17: 5,389,496 (GRCm39)	P1681S	probably damaging	Het
Atxn10	T	C	15: 85,260,909 (GRCm39)		probably null	Het
AU040320	A	G	4: 126,733,462 (GRCm39)	T661A	probably benign	Het
Bhmt1b	C	A	18: 87,774,573 (GRCm39)	A32E	probably damaging	Het
Capn7	T	C	14: 31,082,514 (GRCm39)	I455M	probably benign	Het
Capzb	A	G	4: 138,920,310 (GRCm39)		probably benign	Het
Car10	G	A	11: 93,469,492 (GRCm39)	V156I	possibly damaging	Het
Cbs	T	A	17: 31,851,826 (GRCm39)	D59V	probably damaging	Het
Ccar2	T	C	14: 70,377,003 (GRCm39)	E819G	probably damaging	Het
Cdc73	T	A	1: 143,503,613 (GRCm39)	Q346L	probably benign	Het
Cdhr4	T	C	9: 107,875,898 (GRCm39)		probably benign	Het
Cfap251	C	T	5: 123,440,835 (GRCm39)	H1131Y	probably benign	Het
Chd2	A	T	7: 73,134,184 (GRCm39)	M721K	possibly damaging	Het
Cntnap5b	G	A	1: 100,286,450 (GRCm39)	G402R	probably benign	Het
Cps1	T	C	1: 67,182,145 (GRCm39)	Y120H	probably damaging	Het
Csf2	T	C	11: 54,140,306 (GRCm39)	D44G	probably benign	Het
Cubn	T	A	2: 13,291,835 (GRCm39)	Q3330L	possibly damaging	Het
Cubn	A	G	2: 13,355,869 (GRCm39)	S1788P	probably damaging	Het
Cul9	T	C	17: 46,811,770 (GRCm39)	D2486G	possibly damaging	Het
Cyp2c40	A	T	19: 39,762,293 (GRCm39)	S451R	probably damaging	Het
Cyp51	T	A	5: 4,133,256 (GRCm39)	T461S	probably damaging	Het
D130043K22Rik	T	C	13: 25,062,023 (GRCm39)	I664T	probably damaging	Het
Ddc	T	C	11: 11,796,632 (GRCm39)		probably null	Het
Ddx21	A	T	10: 62,423,900 (GRCm39)	D589E	probably damaging	Het
Dgkb	C	T	12: 38,164,567 (GRCm39)	R113C	possibly damaging	Het
Dglucy	A	T	12: 100,816,602 (GRCm39)	M415L	probably benign	Het
Efnb2	A	T	8: 8,673,104 (GRCm39)		probably null	Het
Elp4	T	A	2: 105,639,612 (GRCm39)	Q189L	probably damaging	Het
Enpp2	T	C	15: 54,773,490 (GRCm39)	N77S	probably damaging	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
F2rl1	G	A	13: 95,650,477 (GRCm39)	S135F	possibly damaging	Het
Fam133b	T	C	5: 3,607,815 (GRCm39)	M65T	probably damaging	Het
Fanca	A	G	8: 124,014,941 (GRCm39)	V689A	probably damaging	Het
Fbh1	C	T	2: 11,760,558 (GRCm39)	C79Y	probably damaging	Het
Fbxw7	C	T	3: 84,811,168 (GRCm39)	Q98*	probably null	Het
Flrt3	T	C	2: 140,502,086 (GRCm39)	N514S	probably damaging	Het
Foxj3	A	T	4: 119,478,857 (GRCm39)	S438C	unknown	Het
Gcm2	T	C	13: 41,256,970 (GRCm39)	K260E	possibly damaging	Het
Gm12863	C	T	4: 118,811,685 (GRCm39)		noncoding transcript	Het
Gpnmb	G	T	6: 49,022,417 (GRCm39)		probably null	Het
Gsap	C	A	5: 21,455,941 (GRCm39)	N379K	probably benign	Het
Hsd3b1	T	A	3: 98,760,181 (GRCm39)	Y270F	probably benign	Het
Ift70a2	T	A	2: 75,807,729 (GRCm39)	Y261F	probably benign	Het
Il22	C	A	10: 118,041,058 (GRCm39)	R55S	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Klhdc3	T	C	17: 46,988,226 (GRCm39)	R180G	possibly damaging	Het
Lmbrd1	G	A	1: 24,784,056 (GRCm39)		probably null	Het
Lrrcc1	C	T	3: 14,601,156 (GRCm39)	R63*	probably null	Het
Lyar	A	G	5: 38,382,123 (GRCm39)	D35G	probably damaging	Het
Mbd4	C	T	6: 115,822,283 (GRCm39)	R442Q	probably benign	Het
Mib2	G	T	4: 155,744,229 (GRCm39)	S144R	probably benign	Het
Mms22l	A	T	4: 24,580,052 (GRCm39)		probably null	Het
Mtmr3	G	A	11: 4,437,764 (GRCm39)	H897Y	probably benign	Het
Muc5b	T	A	7: 141,401,453 (GRCm39)	C566*	probably null	Het
Nap1l4	A	T	7: 143,088,200 (GRCm39)		probably null	Het
Ncor2	A	T	5: 125,114,124 (GRCm39)		probably null	Het
Ndufa7	T	C	17: 34,057,187 (GRCm39)		probably benign	Het
Ndufs1	C	A	1: 63,200,108 (GRCm39)	G268V	probably damaging	Het
Nfs1	A	G	2: 155,976,369 (GRCm39)	V175A	possibly damaging	Het
Obsl1	C	A	1: 75,466,145 (GRCm39)	A1528S	possibly damaging	Het
Or2z8	A	G	8: 72,811,938 (GRCm39)	N138S	probably benign	Het
Or4a79	C	T	2: 89,551,706 (GRCm39)	V250I	probably benign	Het
Or52z1	A	T	7: 103,436,688 (GRCm39)	F265L	possibly damaging	Het
Or7a42	T	G	10: 78,791,931 (GRCm39)	D297E	probably null	Het
Or8k39	C	T	2: 86,563,018 (GRCm39)		probably null	Het
Pcdhb8	A	G	18: 37,488,706 (GRCm39)	D128G	probably damaging	Het
Pkp4	A	T	2: 59,172,449 (GRCm39)	I522F	probably damaging	Het
Plod3	G	A	5: 137,019,654 (GRCm39)	A398T	probably benign	Het
Pou4f3	A	G	18: 42,529,052 (GRCm39)	M332V	possibly damaging	Het
Prox1	A	G	1: 189,885,669 (GRCm39)	F593L	probably damaging	Het
Prrc2a	G	A	17: 35,369,018 (GRCm39)	P2006L	probably damaging	Het
Prss50	A	G	9: 110,692,864 (GRCm39)	D328G	probably damaging	Het
Psmd6	C	T	14: 14,120,126 (GRCm38)	S71N	probably benign	Het
Ptprd	A	G	4: 76,009,769 (GRCm39)	I764T	probably benign	Het
Ptprr	C	T	10: 115,884,123 (GRCm39)	A60V	probably benign	Het
Raet1e	T	A	10: 22,057,199 (GRCm39)	D174E	probably damaging	Het
Rbfox2	T	C	15: 76,976,018 (GRCm39)	I308M	probably benign	Het
Rnf20	G	C	4: 49,649,962 (GRCm39)		probably null	Het
Rpap2	A	T	5: 107,768,113 (GRCm39)	H317L	probably benign	Het
Rsph6a	T	A	7: 18,799,783 (GRCm39)	Y471*	probably null	Het
Sdhb	A	G	4: 140,704,777 (GRCm39)	H246R	possibly damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Sin3b	A	C	8: 73,452,271 (GRCm39)	I126L	probably benign	Het
Skint2	G	A	4: 112,509,305 (GRCm39)	A363T	probably benign	Het
Slc22a30	A	G	19: 8,321,768 (GRCm39)	I432T	probably benign	Het
Slc2a2	G	A	3: 28,771,681 (GRCm39)		probably null	Het
Slco1a5	T	C	6: 142,194,533 (GRCm39)	Y370C	possibly damaging	Het
Sltm	A	G	9: 70,496,339 (GRCm39)	H958R	probably damaging	Het
Smpdl3a	C	T	10: 57,684,111 (GRCm39)	H290Y	probably damaging	Het
Snrnp40	A	G	4: 130,256,549 (GRCm39)	I91M	probably damaging	Het
Spag9	T	A	11: 93,939,343 (GRCm39)	F91I	probably damaging	Het
Spag9	A	T	11: 93,939,342 (GRCm39)	K90N	possibly damaging	Het
Stox1	A	C	10: 62,501,516 (GRCm39)	I348S	probably damaging	Het
Sult1e1	A	G	5: 87,738,027 (GRCm39)	V18A	possibly damaging	Het
Syne2	A	G	12: 75,945,941 (GRCm39)	M338V	probably benign	Het
Tbc1d23	T	A	16: 57,012,991 (GRCm39)	Q327L	probably benign	Het
Terf2	G	T	8: 107,803,307 (GRCm39)	H425Q	probably benign	Het
Timd2	A	T	11: 46,568,094 (GRCm39)	Y233*	probably null	Het
Tmem39a	A	G	16: 38,411,524 (GRCm39)		probably benign	Het
Trappc10	T	C	10: 78,037,424 (GRCm39)	D793G	possibly damaging	Het
Ugt1a10	TAAAAAAAAA	TAAAAAAA	1: 88,143,650 (GRCm39)		probably benign	Het
Unc93a	T	C	17: 13,339,782 (GRCm39)		probably null	Het
Utrn	T	C	10: 12,625,813 (GRCm39)	T123A	probably damaging	Het
Vmn1r171	T	C	7: 23,332,369 (GRCm39)	I198T	probably benign	Het
Vmn1r213	T	A	13: 23,196,016 (GRCm39)	S200T	probably damaging	Het
Vmn2r108	T	A	17: 20,682,891 (GRCm39)	D771V	probably damaging	Het
Wls	C	T	3: 159,603,082 (GRCm39)	T165I	probably benign	Het
Zc3h13	G	A	14: 75,576,863 (GRCm39)	C1657Y	probably damaging	Het
Zdhhc5	T	C	2: 84,523,775 (GRCm39)	K224E	probably damaging	Het
Zfp54	T	A	17: 21,654,402 (GRCm39)	Y299N	probably damaging	Het
Zfp820	A	T	17: 22,037,966 (GRCm39)	L454Q	probably benign	Het
Zfp960	T	A	17: 17,308,698 (GRCm39)	F471I	probably damaging	Het
Zswim5	A	G	4: 116,830,169 (GRCm39)	I515V	probably benign	Het
Zzef1	G	T	11: 72,750,449 (GRCm39)	S919I	probably benign	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
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'- AAGCACACCAGGTGTAGTGC -3'
(R):5'- TGGCTTCTCAGTTCATTTAAGGC -3'

Sequencing Primer
(F):5'- ACACCAGGTGTAGTGCTGGTC -3'
(R):5'- CTCAGTTCATTTAAGGCCACAGTGG -3'

Posted On

2016-02-04