Mutagenetix > Incidental Mutation

Incidental Mutation 'R4736:Cyth3'

359238

Institutional Source

Beutler Lab

Gene Symbol

Cyth3

Ensembl Gene

ENSMUSG00000018001

Gene Name

cytohesin 3

Synonyms

Pscd3, Grp1, cytohesin 3

MMRRC Submission

041963-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R4736 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143608202-143696005 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 143670234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135287 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110727] [ENSMUST00000116456] [ENSMUST00000131436] [ENSMUST00000177196] [ENSMUST00000177281]

AlphaFold

O08967

Predicted Effect

probably null
Transcript: ENSMUST00000110727

SMART Domains

Protein: ENSMUSP00000106355
Gene: ENSMUSG00000018001

Domain	Start	End	E-Value	Type
Sec7	15	200	1.5e-106	SMART
PH	217	334	1.1e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000116456

SMART Domains

Protein: ENSMUSP00000112157
Gene: ENSMUSG00000018001

Domain	Start	End	E-Value	Type
low complexity region	3	10	N/A	INTRINSIC
low complexity region	14	35	N/A	INTRINSIC
Sec7	63	248	3.21e-104	SMART
PH	265	382	2.36e-24	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000131436

SMART Domains

Protein: ENSMUSP00000118290
Gene: ENSMUSG00000018001

Domain	Start	End	E-Value	Type
Pfam:Sec7	13	70	5.9e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000177196

Predicted Effect

probably null
Transcript: ENSMUST00000177281

SMART Domains

Protein: ENSMUSP00000135287
Gene: ENSMUSG00000018001

Domain	Start	End	E-Value	Type
low complexity region	22	43	N/A	INTRINSIC
Blast:Sec7	45	91	1e-11	BLAST
PDB:1S9D\|E	63	93	4e-8	PDB
SCOP:d1pbv__	65	93	7e-8	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PSCD (pleckstrin homology, Sec7 and coiled-coil domains) family. PSCD family members 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 (GEP) 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 encoded protein is involved in the control of Golgi structure and function, and it may have a physiological role in regulating ADP-ribosylation factor protein 6 (ARF) functions, in addition to acting on ARF1. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,774,246 (GRCm39)	I1145T	probably damaging	Het
Aadat	T	C	8: 60,993,140 (GRCm39)	V360A	probably benign	Het
Abhd16a	A	T	17: 35,320,859 (GRCm39)	T436S	probably benign	Het
Acbd5	G	T	2: 22,989,596 (GRCm39)	L406F	probably damaging	Het
Agrn	G	A	4: 156,256,858 (GRCm39)	T1142M	probably benign	Het
Aig1	C	A	10: 13,677,674 (GRCm39)	W106L	probably damaging	Het
Akr1d1	T	C	6: 37,534,535 (GRCm39)		probably null	Het
Ap1g1	G	A	8: 110,581,714 (GRCm39)	D658N	possibly damaging	Het
Arhgap45	A	G	10: 79,862,006 (GRCm39)	Y520C	probably damaging	Het
Arhgap5	A	T	12: 52,565,860 (GRCm39)	M944L	probably benign	Het
Asic5	C	T	3: 81,907,116 (GRCm39)	T47I	possibly damaging	Het
Cabp5	A	G	7: 13,134,664 (GRCm39)		probably null	Het
Ccr6	A	T	17: 8,474,896 (GRCm39)	R34*	probably null	Het
Cdin1	A	G	2: 115,412,369 (GRCm39)	I2V	probably benign	Het
Clec4a2	T	C	6: 123,117,622 (GRCm39)	I180T	probably damaging	Het
Cmtr1	A	G	17: 29,919,216 (GRCm39)	E704G	possibly damaging	Het
Dbt	T	C	3: 116,332,781 (GRCm39)	I200T	probably damaging	Het
Dennd6b	T	C	15: 89,069,795 (GRCm39)	H468R	probably benign	Het
Depdc5	A	G	5: 33,132,666 (GRCm39)	M1237V	probably benign	Het
Dpp6	A	G	5: 27,917,657 (GRCm39)	Y616C	probably damaging	Het
Dync2h1	A	T	9: 7,006,862 (GRCm39)	S3710T	probably benign	Het
Eif4g3	T	A	4: 137,925,408 (GRCm39)	S1584T	probably benign	Het
Emc3	G	A	6: 113,508,310 (GRCm39)	T45I	possibly damaging	Het
Esf1	T	A	2: 139,966,891 (GRCm39)	D685V	probably damaging	Het
Ezr	A	G	17: 7,008,975 (GRCm39)	S366P	probably benign	Het
Gbe1	C	T	16: 70,292,141 (GRCm39)	A491V	probably damaging	Het
Haus6	A	G	4: 86,518,986 (GRCm39)		probably null	Het
Heca	G	A	10: 17,790,935 (GRCm39)	Q12*	probably null	Het
Hpdl	T	C	4: 116,678,221 (GRCm39)	N80S	probably damaging	Het
Hydin	A	T	8: 111,249,840 (GRCm39)	Q2261L	probably benign	Het
Itgae	G	T	11: 73,005,706 (GRCm39)	R290L	possibly damaging	Het
Kcna10	C	A	3: 107,102,808 (GRCm39)	L480I	probably benign	Het
Kif27	T	C	13: 58,476,785 (GRCm39)	T622A	probably benign	Het
Lama2	T	C	10: 27,080,925 (GRCm39)	N966S	probably damaging	Het
Mdfic	A	G	6: 15,741,019 (GRCm39)	K38E	possibly damaging	Het
Med25	G	A	7: 44,541,712 (GRCm39)	A26V	probably damaging	Het
Mrpl19	A	T	6: 81,941,329 (GRCm39)	S77R	probably damaging	Het
Mtcl2	T	A	2: 156,862,474 (GRCm39)	D1485V	probably damaging	Het
Mybpc2	T	C	7: 44,161,971 (GRCm39)	D493G	probably damaging	Het
Myh4	A	G	11: 67,131,746 (GRCm39)	T69A	probably benign	Het
Myo16	G	T	8: 10,423,527 (GRCm39)	G288W	probably damaging	Het
Myo9b	T	C	8: 71,809,236 (GRCm39)	L1815P	probably damaging	Het
Myom2	T	A	8: 15,131,271 (GRCm39)	L323Q	probably damaging	Het
Naip1	T	C	13: 100,581,034 (GRCm39)	D71G	possibly damaging	Het
Nktr	T	A	9: 121,578,805 (GRCm39)		probably benign	Het
Nol10	A	G	12: 17,405,288 (GRCm39)	K88E	probably damaging	Het
Nol4	T	C	18: 22,852,050 (GRCm39)	D505G	probably damaging	Het
Nynrin	T	A	14: 56,101,454 (GRCm39)	N374K	probably damaging	Het
Obscn	A	T	11: 58,954,362 (GRCm39)	L3740Q	probably damaging	Het
Or5g23	T	C	2: 85,438,327 (GRCm39)	H309R	probably benign	Het
Otub2	T	A	12: 103,359,103 (GRCm39)	L64Q	probably benign	Het
Pgm5	G	A	19: 24,812,169 (GRCm39)	A121V	probably damaging	Het
Pi4ka	A	T	16: 17,195,039 (GRCm39)	Y120N	probably benign	Het
Rpl36al	G	A	12: 69,229,732 (GRCm39)	A60V	possibly damaging	Het
Rspo4	T	C	2: 151,685,054 (GRCm39)	Y21H	probably benign	Het
Scube2	A	G	7: 109,430,412 (GRCm39)	V455A	probably benign	Het
Serpina1f	T	C	12: 103,659,805 (GRCm39)	D159G	probably damaging	Het
Sf1	A	G	19: 6,415,694 (GRCm39)	D11G	probably damaging	Het
Siglecg	T	C	7: 43,067,332 (GRCm39)	F633S	probably benign	Het
Skic2	A	G	17: 35,067,173 (GRCm39)	S89P	possibly damaging	Het
Slc22a13	T	C	9: 119,022,698 (GRCm39)	E501G	probably damaging	Het
Slc44a3	A	G	3: 121,303,855 (GRCm39)	S294P	probably damaging	Het
Smad3	T	G	9: 63,664,842 (GRCm39)	K40Q	probably damaging	Het
Stt3a	T	A	9: 36,661,008 (GRCm39)	M268L	probably benign	Het
Taf4	A	T	2: 179,566,287 (GRCm39)	V817E	probably damaging	Het
Tgfbr1	A	G	4: 47,383,835 (GRCm39)	T58A	probably benign	Het
Trpc6	T	C	9: 8,609,871 (GRCm39)	V113A	probably damaging	Het
Ttll13	T	A	7: 79,898,024 (GRCm39)		probably null	Het
Uba7	T	C	9: 107,857,364 (GRCm39)	L742P	probably benign	Het
Ulk2	A	G	11: 61,724,261 (GRCm39)	L174P	probably damaging	Het
Unc5c	A	T	3: 141,522,692 (GRCm39)	Y706F	probably benign	Het
Unc80	A	T	1: 66,688,831 (GRCm39)		probably null	Het
Usp34	T	A	11: 23,343,749 (GRCm39)		probably null	Het
Vmn1r71	A	T	7: 10,481,791 (GRCm39)	V233D	possibly damaging	Het
Xpo6	T	C	7: 125,739,755 (GRCm39)	K439R	probably benign	Het
Xrn1	G	T	9: 95,915,689 (GRCm39)	G1271C	probably damaging	Het
Yes1	A	T	5: 32,818,121 (GRCm39)	E386V	probably damaging	Het
Zfp759	C	A	13: 67,287,408 (GRCm39)	H320N	probably damaging	Het
Zfp990	A	T	4: 145,263,512 (GRCm39)	H170L	possibly damaging	Het

Other mutations in Cyth3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Cyth3	APN	5	143,692,920 (GRCm39)	splice site	probably null
IGL01340:Cyth3	APN	5	143,670,190 (GRCm39)	nonsense	probably null
IGL01372:Cyth3	APN	5	143,678,393 (GRCm39)	missense	possibly damaging	0.93
IGL02092:Cyth3	APN	5	143,693,140 (GRCm39)	splice site	probably benign
IGL02850:Cyth3	APN	5	143,672,259 (GRCm39)	missense	probably damaging	0.97
IGL02892:Cyth3	APN	5	143,693,192 (GRCm39)	missense	possibly damaging	0.86
R0373:Cyth3	UTSW	5	143,670,181 (GRCm39)	utr 5 prime	probably benign
R0726:Cyth3	UTSW	5	143,678,397 (GRCm39)	missense	probably benign	0.00
R1217:Cyth3	UTSW	5	143,688,575 (GRCm39)	missense	probably damaging	1.00
R1552:Cyth3	UTSW	5	143,683,505 (GRCm39)	missense	probably benign	0.12
R1623:Cyth3	UTSW	5	143,687,127 (GRCm39)	missense	probably damaging	1.00
R1873:Cyth3	UTSW	5	143,683,516 (GRCm39)	missense	possibly damaging	0.54
R3788:Cyth3	UTSW	5	143,622,298 (GRCm39)	intron	probably benign
R6500:Cyth3	UTSW	5	143,693,595 (GRCm39)	missense	probably damaging	0.97
R6824:Cyth3	UTSW	5	143,672,265 (GRCm39)	missense	probably damaging	1.00
R7105:Cyth3	UTSW	5	143,693,027 (GRCm39)	missense	probably benign	0.07
R7143:Cyth3	UTSW	5	143,670,151 (GRCm39)	missense	unknown
R7767:Cyth3	UTSW	5	143,693,229 (GRCm39)	missense	probably damaging	1.00
R7839:Cyth3	UTSW	5	143,683,509 (GRCm39)	missense	probably benign	0.01
R8220:Cyth3	UTSW	5	143,687,344 (GRCm39)	splice site	probably null
R8497:Cyth3	UTSW	5	143,678,328 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GTTTTCCTCCAGAGCAGCAG -3'
(R):5'- TAGTCCCATCGAGGTCTCTAC -3'

Sequencing Primer
(F):5'- CGAAGGTGTTGACCTTTCT -3'
(R):5'- GGTCTCTACCAGAGCTTGTGC -3'

Posted On

2015-11-11