Mutagenetix > Incidental Mutations

Incidental Mutation 'R0373:Cyth3'

30601

Institutional Source

Beutler Lab

Gene Symbol

Cyth3

Ensembl Gene

ENSMUSG00000018001

Gene Name

cytohesin 3

Synonyms

Grp1, Pscd3, cytohesin 3

MMRRC Submission

038579-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R0373 (G1)

Quality Score

181

Status

Not validated

Chromosome

Chromosomal Location

143622447-143710250 bp(+) (GRCm38)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 143684426 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135548 (fasta)

Gene Model

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

AlphaFold

O08967

Predicted Effect

probably benign
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

unknown
Transcript: ENSMUST00000116456
AA Change: E22G

SMART Domains

Protein: ENSMUSP00000112157
Gene: ENSMUSG00000018001
AA Change: E22G

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 benign
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 benign
Transcript: ENSMUST00000177196

Predicted Effect

unknown
Transcript: ENSMUST00000177281
AA Change: E30G

SMART Domains

Protein: ENSMUSP00000135287
Gene: ENSMUSG00000018001
AA Change: E30G

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: 98.1%
10x: 95.8%
20x: 91.5%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	T	3: 138,173,582	L235Q	probably damaging	Het
Adam6b	T	A	12: 113,490,655	V364D	probably benign	Het
Akap13	T	C	7: 75,609,929	L767P	probably benign	Het
Akap13	T	A	7: 75,730,500	S2193T	probably damaging	Het
Anapc11	T	C	11: 120,605,377	V69A	probably benign	Het
Ankmy1	C	T	1: 92,896,190	R118Q	probably damaging	Het
Ankrd27	T	C	7: 35,638,053	S931P	probably benign	Het
Atp6v1c2	G	A	12: 17,288,168	R280C	probably damaging	Het
Bbs10	T	A	10: 111,300,052	I342N	probably damaging	Het
Calhm2	T	C	19: 47,132,950	D260G	possibly damaging	Het
Camk2a	A	G	18: 60,958,238	E264G	probably damaging	Het
Ccdc146	T	A	5: 21,319,545	M270L	probably benign	Het
Cdc16	A	G	8: 13,779,264	T517A	probably benign	Het
Ces1g	T	C	8: 93,331,193	H160R	probably benign	Het
Chst4	T	C	8: 110,030,394	N196S	probably damaging	Het
Ciz1	A	T	2: 32,367,467	N175Y	probably damaging	Het
Cyb5r4	G	A	9: 87,027,040	V57I	probably damaging	Het
Def6	A	G	17: 28,220,180	E255G	probably damaging	Het
Dhtkd1	T	G	2: 5,911,870	Q665P	probably damaging	Het
Dsg3	A	C	18: 20,539,747	D825A	probably damaging	Het
Eif3m	T	C	2: 105,005,000	T242A	probably benign	Het
Emilin3	A	G	2: 160,909,817	F101L	probably benign	Het
Epha7	A	G	4: 28,935,700		probably null	Het
Fam205a1	T	C	4: 42,851,161	I332V	probably benign	Het
Fbxo45	A	T	16: 32,238,405	Y224N	probably damaging	Het
Fhod3	A	T	18: 25,090,104	M836L	possibly damaging	Het
Fut4	C	A	9: 14,751,210	V263F	probably damaging	Het
Ggt1	C	T	10: 75,579,270	T206M	probably benign	Het
Gls	T	C	1: 52,188,699	R79G	probably damaging	Het
Gm436	A	T	4: 144,686,220	M50K	possibly damaging	Het
Grhl1	T	C	12: 24,581,515	S156P	probably benign	Het
Ipo8	C	T	6: 148,775,042	S983N	probably benign	Het
Kcna7	C	T	7: 45,409,444	A385V	probably damaging	Het
Kpnb1	A	T	11: 97,185,090	L40Q	probably damaging	Het
Matn1	A	T	4: 130,950,106	S209C	probably damaging	Het
Mcc	A	G	18: 44,475,222	I501T	probably benign	Het
Mdp1	A	T	14: 55,659,375	F104L	probably damaging	Het
Mib2	A	T	4: 155,656,288	N626K	probably damaging	Het
Mrgprh	T	C	17: 12,876,956	S28P	possibly damaging	Het
Mup-ps23	T	A	4: 61,856,149		noncoding transcript	Het
Myh15	A	G	16: 49,182,959	T1794A	possibly damaging	Het
Myo18a	C	G	11: 77,821,042	P680A	probably benign	Het
Myom2	G	T	8: 15,098,419	D532Y	possibly damaging	Het
Ndufaf5	A	G	2: 140,170,881	N57S	probably benign	Het
Nectin3	C	T	16: 46,458,187	V282M	probably damaging	Het
Nup188	G	T	2: 30,330,988	D997Y	probably damaging	Het
Olfm3	T	C	3: 115,122,805	V462A	probably damaging	Het
Olfr1044	A	C	2: 86,171,706	F37C	probably damaging	Het
Olfr1225	A	T	2: 89,170,413	F266L	probably benign	Het
Olfr305	A	T	7: 86,363,805	C177*	probably null	Het
Opcml	A	G	9: 28,813,398	H164R	possibly damaging	Het
Pacrg	A	G	17: 10,403,418	I209T	probably damaging	Het
Pcf11	T	C	7: 92,661,215	M522V	probably benign	Het
Pck1	T	A	2: 173,153,390	M1K	probably null	Het
Pcm1	G	T	8: 41,276,111	E707*	probably null	Het
Pcsk5	G	A	19: 17,654,849	R318W	probably damaging	Het
Phf11d	A	T	14: 59,353,344	M188K	possibly damaging	Het
Ppip5k2	A	T	1: 97,740,537	C615*	probably null	Het
Prkdc	T	A	16: 15,791,927	S3132T	probably damaging	Het
Prl2c5	A	T	13: 13,183,024		probably benign	Het
Prpsap2	A	G	11: 61,741,000	I177T	possibly damaging	Het
Rad50	A	G	11: 53,650,519	S1297P	probably damaging	Het
Rasip1	T	A	7: 45,635,244	N678K	possibly damaging	Het
Rubcn	A	G	16: 32,835,980	S544P	probably damaging	Het
Rwdd2a	A	T	9: 86,574,400	T210S	possibly damaging	Het
Scd2	A	G	19: 44,303,040	D306G	probably damaging	Het
Sema3b	T	C	9: 107,602,918	N207S	probably benign	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Sipa1l2	C	A	8: 125,464,410	C947F	probably damaging	Het
Slc12a1	A	T	2: 125,226,031	T1013S	probably damaging	Het
Slc18a2	A	T	19: 59,287,367	I461L	probably benign	Het
Slc1a6	C	A	10: 78,801,922	Y427*	probably null	Het
Slc30a4	A	T	2: 122,689,399	I231K	probably damaging	Het
Sos1	G	T	17: 80,453,763	A168D	probably damaging	Het
Sptb	T	C	12: 76,621,371	S651G	probably benign	Het
Stk36	T	C	1: 74,633,620	L1007P	probably damaging	Het
Tek	A	T	4: 94,804,341	N229Y	probably damaging	Het
Tep1	A	G	14: 50,836,768	F1887L	possibly damaging	Het
Tet1	A	T	10: 62,878,209	C602*	probably null	Het
Tnfrsf19	A	G	14: 60,972,036	S262P	possibly damaging	Het
Trim5	T	C	7: 104,265,684	I393V	probably benign	Het
Trpm6	A	G	19: 18,853,587	E1272G	probably benign	Het
Ttc21b	A	T	2: 66,188,326	Y1246N	probably damaging	Het
Ttll3	T	A	6: 113,398,777	L151H	probably damaging	Het
U2surp	C	T	9: 95,484,443	V470I	probably benign	Het
Ubr1	A	T	2: 120,946,657	Y276N	probably benign	Het
Uggt1	A	G	1: 36,179,670	S59P	probably benign	Het
Unc45a	T	C	7: 80,326,344	T796A	probably damaging	Het
Unc5b	C	A	10: 60,778,940	V193F	possibly damaging	Het
Upp1	G	T	11: 9,129,590	M50I	probably benign	Het
Vps18	C	T	2: 119,293,905	R438C	probably damaging	Het
Zfp715	T	C	7: 43,299,336	Y400C	possibly damaging	Het
Zfp955b	T	C	17: 33,302,522	Y322H	probably benign	Het

Other mutations in Cyth3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Cyth3	APN	5	143707165	splice site	probably null
IGL01340:Cyth3	APN	5	143684435	nonsense	probably null
IGL01372:Cyth3	APN	5	143692638	missense	possibly damaging	0.93
IGL02092:Cyth3	APN	5	143707385	splice site	probably benign
IGL02850:Cyth3	APN	5	143686504	missense	probably damaging	0.97
IGL02892:Cyth3	APN	5	143707437	missense	possibly damaging	0.86
R0726:Cyth3	UTSW	5	143692642	missense	probably benign	0.00
R1217:Cyth3	UTSW	5	143702820	missense	probably damaging	1.00
R1552:Cyth3	UTSW	5	143697750	missense	probably benign	0.12
R1623:Cyth3	UTSW	5	143701372	missense	probably damaging	1.00
R1873:Cyth3	UTSW	5	143697761	missense	possibly damaging	0.54
R3788:Cyth3	UTSW	5	143636543	intron	probably benign
R4736:Cyth3	UTSW	5	143684479	critical splice donor site	probably null
R6500:Cyth3	UTSW	5	143707840	missense	probably damaging	0.97
R6824:Cyth3	UTSW	5	143686510	missense	probably damaging	1.00
R7105:Cyth3	UTSW	5	143707272	missense	probably benign	0.07
R7143:Cyth3	UTSW	5	143684396	missense	unknown
R7767:Cyth3	UTSW	5	143707474	missense	probably damaging	1.00
R7839:Cyth3	UTSW	5	143697754	missense	probably benign	0.01
R8220:Cyth3	UTSW	5	143701589	splice site	probably null
R8497:Cyth3	UTSW	5	143692573	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GGCTACATGCAGTTGAGAGCTGAG -3'
(R):5'- ACTGGGAATGTTAGTCCCATCGAGG -3'

Sequencing Primer
(F):5'- TCTTAGCACTACAGCCTGTAAGAG -3'
(R):5'- AGTCTGGAGAAGCCATCTCCTC -3'

Posted On

2013-04-24