Mutagenetix > Incidental Mutation

Incidental Mutation 'R0373:Cyth3'

30601

Institutional Source

Beutler Lab

Gene Symbol

Cyth3

Ensembl Gene

ENSMUSG00000018001

Gene Name

cytohesin 3

Synonyms

Pscd3, Grp1, cytohesin 3

MMRRC Submission

038579-MU

Accession Numbers

Essential gene?

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

Stock #

R0373 (G1)

Quality Score

181

Status

Not validated

Chromosome

Chromosomal Location

143608202-143696005 bp(+) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 143670181 bp (GRCm39)

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: 137,879,343 (GRCm39)	L235Q	probably damaging	Het
Aadacl4fm4	A	T	4: 144,412,790 (GRCm39)	M50K	possibly damaging	Het
Adam6b	T	A	12: 113,454,275 (GRCm39)	V364D	probably benign	Het
Akap13	T	C	7: 75,259,677 (GRCm39)	L767P	probably benign	Het
Akap13	T	A	7: 75,380,248 (GRCm39)	S2193T	probably damaging	Het
Anapc11	T	C	11: 120,496,203 (GRCm39)	V69A	probably benign	Het
Ankmy1	C	T	1: 92,823,912 (GRCm39)	R118Q	probably damaging	Het
Ankrd27	T	C	7: 35,337,478 (GRCm39)	S931P	probably benign	Het
Atp6v1c2	G	A	12: 17,338,169 (GRCm39)	R280C	probably damaging	Het
Bbs10	T	A	10: 111,135,913 (GRCm39)	I342N	probably damaging	Het
Calhm2	T	C	19: 47,121,389 (GRCm39)	D260G	possibly damaging	Het
Camk2a	A	G	18: 61,091,310 (GRCm39)	E264G	probably damaging	Het
Ccdc146	T	A	5: 21,524,543 (GRCm39)	M270L	probably benign	Het
Cdc16	A	G	8: 13,829,264 (GRCm39)	T517A	probably benign	Het
Ces1g	T	C	8: 94,057,821 (GRCm39)	H160R	probably benign	Het
Chst4	T	C	8: 110,757,026 (GRCm39)	N196S	probably damaging	Het
Ciz1	A	T	2: 32,257,479 (GRCm39)	N175Y	probably damaging	Het
Cyb5r4	G	A	9: 86,909,093 (GRCm39)	V57I	probably damaging	Het
Def6	A	G	17: 28,439,154 (GRCm39)	E255G	probably damaging	Het
Dhtkd1	T	G	2: 5,916,681 (GRCm39)	Q665P	probably damaging	Het
Dsg3	A	C	18: 20,672,804 (GRCm39)	D825A	probably damaging	Het
Eif3m	T	C	2: 104,835,345 (GRCm39)	T242A	probably benign	Het
Emilin3	A	G	2: 160,751,737 (GRCm39)	F101L	probably benign	Het
Epha7	A	G	4: 28,935,700 (GRCm39)		probably null	Het
Fbxo45	A	T	16: 32,057,223 (GRCm39)	Y224N	probably damaging	Het
Fhod3	A	T	18: 25,223,161 (GRCm39)	M836L	possibly damaging	Het
Fut4	C	A	9: 14,662,506 (GRCm39)	V263F	probably damaging	Het
Ggt1	C	T	10: 75,415,104 (GRCm39)	T206M	probably benign	Het
Gls	T	C	1: 52,227,858 (GRCm39)	R79G	probably damaging	Het
Grhl1	T	C	12: 24,631,514 (GRCm39)	S156P	probably benign	Het
Ipo8	C	T	6: 148,676,540 (GRCm39)	S983N	probably benign	Het
Kcna7	C	T	7: 45,058,868 (GRCm39)	A385V	probably damaging	Het
Kpnb1	A	T	11: 97,075,916 (GRCm39)	L40Q	probably damaging	Het
Matn1	A	T	4: 130,677,417 (GRCm39)	S209C	probably damaging	Het
Mcc	A	G	18: 44,608,289 (GRCm39)	I501T	probably benign	Het
Mdp1	A	T	14: 55,896,832 (GRCm39)	F104L	probably damaging	Het
Mib2	A	T	4: 155,740,745 (GRCm39)	N626K	probably damaging	Het
Mrgprh	T	C	17: 13,095,843 (GRCm39)	S28P	possibly damaging	Het
Mup-ps23	T	A	4: 61,774,386 (GRCm39)		noncoding transcript	Het
Myh15	A	G	16: 49,003,322 (GRCm39)	T1794A	possibly damaging	Het
Myo18a	C	G	11: 77,711,868 (GRCm39)	P680A	probably benign	Het
Myom2	G	T	8: 15,148,419 (GRCm39)	D532Y	possibly damaging	Het
Ndufaf5	A	G	2: 140,012,801 (GRCm39)	N57S	probably benign	Het
Nectin3	C	T	16: 46,278,550 (GRCm39)	V282M	probably damaging	Het
Nup188	G	T	2: 30,221,000 (GRCm39)	D997Y	probably damaging	Het
Olfm3	T	C	3: 114,916,454 (GRCm39)	V462A	probably damaging	Het
Opcml	A	G	9: 28,724,694 (GRCm39)	H164R	possibly damaging	Het
Or14a259	A	T	7: 86,013,013 (GRCm39)	C177*	probably null	Het
Or4c120	A	T	2: 89,000,757 (GRCm39)	F266L	probably benign	Het
Or8u9	A	C	2: 86,002,050 (GRCm39)	F37C	probably damaging	Het
Pacrg	A	G	17: 10,622,347 (GRCm39)	I209T	probably damaging	Het
Pcf11	T	C	7: 92,310,423 (GRCm39)	M522V	probably benign	Het
Pck1	T	A	2: 172,995,183 (GRCm39)	M1K	probably null	Het
Pcm1	G	T	8: 41,729,148 (GRCm39)	E707*	probably null	Het
Pcsk5	G	A	19: 17,632,213 (GRCm39)	R318W	probably damaging	Het
Phf11d	A	T	14: 59,590,793 (GRCm39)	M188K	possibly damaging	Het
Ppip5k2	A	T	1: 97,668,262 (GRCm39)	C615*	probably null	Het
Prkdc	T	A	16: 15,609,791 (GRCm39)	S3132T	probably damaging	Het
Prl2c5	A	T	13: 13,357,609 (GRCm39)		probably benign	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Rad50	A	G	11: 53,541,346 (GRCm39)	S1297P	probably damaging	Het
Rasip1	T	A	7: 45,284,668 (GRCm39)	N678K	possibly damaging	Het
Rubcn	A	G	16: 32,656,350 (GRCm39)	S544P	probably damaging	Het
Rwdd2a	A	T	9: 86,456,453 (GRCm39)	T210S	possibly damaging	Het
Scd2	A	G	19: 44,291,479 (GRCm39)	D306G	probably damaging	Het
Sema3b	T	C	9: 107,480,117 (GRCm39)	N207S	probably benign	Het
Sf3b2	C	T	19: 5,324,852 (GRCm39)	D845N	probably damaging	Het
Sipa1l2	C	A	8: 126,191,149 (GRCm39)	C947F	probably damaging	Het
Slc12a1	A	T	2: 125,067,951 (GRCm39)	T1013S	probably damaging	Het
Slc18a2	A	T	19: 59,275,799 (GRCm39)	I461L	probably benign	Het
Slc1a6	C	A	10: 78,637,756 (GRCm39)	Y427*	probably null	Het
Slc30a4	A	T	2: 122,531,319 (GRCm39)	I231K	probably damaging	Het
Sos1	G	T	17: 80,761,192 (GRCm39)	A168D	probably damaging	Het
Spata31f1a	T	C	4: 42,851,161 (GRCm39)	I332V	probably benign	Het
Sptb	T	C	12: 76,668,145 (GRCm39)	S651G	probably benign	Het
Stk36	T	C	1: 74,672,779 (GRCm39)	L1007P	probably damaging	Het
Tek	A	T	4: 94,692,578 (GRCm39)	N229Y	probably damaging	Het
Tep1	A	G	14: 51,074,225 (GRCm39)	F1887L	possibly damaging	Het
Tet1	A	T	10: 62,713,988 (GRCm39)	C602*	probably null	Het
Tnfrsf19	A	G	14: 61,209,485 (GRCm39)	S262P	possibly damaging	Het
Trim5	T	C	7: 103,914,891 (GRCm39)	I393V	probably benign	Het
Trpm6	A	G	19: 18,830,951 (GRCm39)	E1272G	probably benign	Het
Ttc21b	A	T	2: 66,018,670 (GRCm39)	Y1246N	probably damaging	Het
Ttll3	T	A	6: 113,375,738 (GRCm39)	L151H	probably damaging	Het
U2surp	C	T	9: 95,366,496 (GRCm39)	V470I	probably benign	Het
Ubr1	A	T	2: 120,777,138 (GRCm39)	Y276N	probably benign	Het
Uggt1	A	G	1: 36,218,751 (GRCm39)	S59P	probably benign	Het
Unc45a	T	C	7: 79,976,092 (GRCm39)	T796A	probably damaging	Het
Unc5b	C	A	10: 60,614,719 (GRCm39)	V193F	possibly damaging	Het
Upp1	G	T	11: 9,079,590 (GRCm39)	M50I	probably benign	Het
Vps18	C	T	2: 119,124,386 (GRCm39)	R438C	probably damaging	Het
Zfp715	T	C	7: 42,948,760 (GRCm39)	Y400C	possibly damaging	Het
Zfp955b	T	C	17: 33,521,496 (GRCm39)	Y322H	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
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
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

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