Mutagenetix > Incidental Mutation

Incidental Mutation 'R3788:Cyth3'

473588

Institutional Source

Beutler Lab

Gene Symbol

Cyth3

Ensembl Gene

ENSMUSG00000018001

Gene Name

cytohesin 3

Synonyms

Pscd3, Grp1, cytohesin 3

Accession Numbers

Essential gene?

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

Stock #

R3788 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143608202-143696005 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 143622298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135548 (fasta)

Gene Model

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

AlphaFold

O08967

Predicted Effect

probably benign
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 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: S17G

SMART Domains

Protein: ENSMUSP00000135287
Gene: ENSMUSG00000018001
AA Change: S17G

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,846,561 (GRCm39)	V26E	possibly damaging	Het
Abhd16a	A	G	17: 35,320,563 (GRCm39)	N411S	probably damaging	Het
Akap13	G	A	7: 75,351,901 (GRCm39)		probably null	Het
Aph1b	T	C	9: 66,701,348 (GRCm39)		probably benign	Het
Aspm	C	T	1: 139,390,941 (GRCm39)	T742I	probably damaging	Het
Bclaf3	A	G	X: 158,349,492 (GRCm39)	H619R	probably benign	Het
Bltp2	T	A	11: 78,179,123 (GRCm39)		probably null	Het
Cemip	A	T	7: 83,593,106 (GRCm39)	L1199H	probably damaging	Het
Chd2	G	A	7: 73,096,878 (GRCm39)		probably benign	Het
Clnk	A	G	5: 38,872,341 (GRCm39)	Y310H	probably damaging	Het
Crmp1	A	G	5: 37,441,484 (GRCm39)	D522G	probably damaging	Het
Dcbld1	T	A	10: 52,195,754 (GRCm39)	Y392N	probably damaging	Het
Flnc	T	C	6: 29,454,056 (GRCm39)	F1820L	probably damaging	Het
Galnt18	G	A	7: 111,119,322 (GRCm39)	R385*	probably null	Het
Gpatch3	C	A	4: 133,302,479 (GRCm39)	R137S	possibly damaging	Het
Gpc6	C	T	14: 117,861,878 (GRCm39)	P265S	probably damaging	Het
Harbi1	T	A	2: 91,550,952 (GRCm39)	D308E	probably benign	Het
Hdhd2	G	A	18: 77,042,883 (GRCm39)		probably null	Het
Hk1	T	C	10: 62,111,467 (GRCm39)	K737E	possibly damaging	Het
Hnrnpr	G	A	4: 136,063,624 (GRCm39)	V345M	probably damaging	Het
Ift56	T	A	6: 38,380,459 (GRCm39)		probably null	Het
Kalrn	T	C	16: 34,040,610 (GRCm39)	H944R	probably damaging	Het
Kdm2a	A	T	19: 4,401,833 (GRCm39)	C207S	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Krt75	C	T	15: 101,481,956 (GRCm39)	G104D	possibly damaging	Het
Lnpk	A	T	2: 74,352,607 (GRCm39)	S358R	probably benign	Het
Map2	A	G	1: 66,456,022 (GRCm39)	T1512A	probably damaging	Het
Marchf10	T	A	11: 105,287,905 (GRCm39)	L132F	probably damaging	Het
Mfrp	G	A	9: 44,016,754 (GRCm39)	W65*	probably null	Het
Mgat5	A	G	1: 127,294,180 (GRCm39)	D174G	probably benign	Het
Miga2	T	A	2: 30,261,237 (GRCm39)	Y177*	probably null	Het
Mroh3	T	C	1: 136,113,213 (GRCm39)	D747G	probably damaging	Het
Muc5b	A	G	7: 141,417,571 (GRCm39)	T3506A	possibly damaging	Het
Myo7b	G	T	18: 32,107,165 (GRCm39)	P1277T	possibly damaging	Het
Naaa	C	T	5: 92,420,413 (GRCm39)		probably null	Het
Ndufs2	T	C	1: 171,062,889 (GRCm39)	D410G	possibly damaging	Het
Or51a25	A	G	7: 102,372,694 (GRCm39)		probably null	Het
Or5p78	T	A	7: 108,212,280 (GRCm39)	Y255*	probably null	Het
Or7e177	A	G	9: 20,211,666 (GRCm39)	I58V	probably benign	Het
Or8g35	A	G	9: 39,381,365 (GRCm39)	I219T	probably benign	Het
Osbp	A	T	19: 11,956,285 (GRCm39)	Y409F	probably benign	Het
Plxnb1	T	A	9: 108,938,355 (GRCm39)	V1303D	possibly damaging	Het
Prkcg	G	A	7: 3,362,263 (GRCm39)	D246N	probably damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,169,203 (GRCm39)		probably benign	Het
Sbf1	G	A	15: 89,183,731 (GRCm39)	R1261*	probably null	Het
Scn4a	T	C	11: 106,235,100 (GRCm39)	N341S	probably damaging	Het
Sec61a2	C	A	2: 5,884,436 (GRCm39)		probably null	Het
Sgcd	T	A	11: 47,246,032 (GRCm39)	K57*	probably null	Het
Sinhcaf	A	G	6: 148,827,617 (GRCm39)	S134P	possibly damaging	Het
Slc12a5	T	C	2: 164,835,695 (GRCm39)	L861P	probably damaging	Het
Slc6a16	A	G	7: 44,909,386 (GRCm39)	D184G	probably benign	Het
Snx7	A	G	3: 117,632,639 (GRCm39)		probably benign	Het
Sptbn2	A	G	19: 4,795,950 (GRCm39)	I1710V	probably damaging	Het
Sytl2	A	T	7: 90,025,289 (GRCm39)	I426F	probably benign	Het
Tdp1	A	G	12: 99,858,011 (GRCm39)		probably benign	Het
Tmem232	C	A	17: 65,689,628 (GRCm39)	D496Y	possibly damaging	Het
Tomm20l	C	T	12: 71,158,516 (GRCm39)	A58V	possibly damaging	Het
Ttn	T	C	2: 76,775,618 (GRCm39)	E1854G	unknown	Het
Ttn	A	G	2: 76,804,552 (GRCm39)	V240A	probably benign	Het
Vmn2r98	A	T	17: 19,300,887 (GRCm39)	T630S	probably benign	Het
Xrcc1	G	C	7: 24,266,333 (GRCm39)	A220P	probably benign	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
R4736:Cyth3	UTSW	5	143,670,234 (GRCm39)	critical splice donor site	probably null
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

Posted On

2017-04-14