Mutagenetix > Incidental Mutation

Incidental Mutation 'R0522:Cyth4'

48657

Institutional Source

Beutler Lab

Gene Symbol

Cyth4

Ensembl Gene

ENSMUSG00000018008

Gene Name

cytohesin 4

Synonyms

Pscd4, 2510004M07Rik, 5830469K17Rik

MMRRC Submission

038715-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R0522 (G1)

Quality Score

198

Status

Validated

Chromosome

Chromosomal Location

78481247-78506219 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 78499985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 255 (H255Q)

Ref Sequence

ENSEMBL: ENSMUSP00000042698 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043069] [ENSMUST00000229248] [ENSMUST00000229717] [ENSMUST00000231168]

AlphaFold

Q80YW0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043069
AA Change: H255Q

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000042698
Gene: ENSMUSG00000018008
AA Change: H255Q

Domain	Start	End	E-Value	Type
Sec7	58	243	1.05e-90	SMART
PH	260	377	2.11e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000229248

Predicted Effect

probably benign
Transcript: ENSMUST00000229717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230583

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230705

Predicted Effect

probably benign
Transcript: ENSMUST00000231168

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231176

Meta Mutation Damage Score

0.1044

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

100% (67/67)

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 family of proteins, which have 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 function as GEPs for ADP-ribosylation factors (ARFs), which are guanine nucleotide-binding proteins involved in vesicular trafficking pathways. This protein exhibits GEP activity in vitro with ARF1 and ARF5, but is inactive with ARF6. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	A	G	8: 84,456,805 (GRCm39)	I192T	probably benign	Het
Adgrl3	T	C	5: 81,874,648 (GRCm39)	Y982H	possibly damaging	Het
Adgrv1	T	A	13: 81,676,561 (GRCm39)		probably benign	Het
Alms1	T	C	6: 85,598,597 (GRCm39)	V1610A	probably benign	Het
Ankrd24	T	C	10: 81,472,189 (GRCm39)		probably benign	Het
C2cd3	A	G	7: 100,044,429 (GRCm39)	N337S	probably benign	Het
Cdc40	T	C	10: 40,733,608 (GRCm39)	Y114C	probably benign	Het
Cdhr1	A	T	14: 36,815,957 (GRCm39)		probably null	Het
Cfc1	G	A	1: 34,576,234 (GRCm39)	C98Y	probably damaging	Het
Cyp11b2	A	T	15: 74,723,533 (GRCm39)		probably benign	Het
Degs1l	A	C	1: 180,887,312 (GRCm39)	D299A	probably damaging	Het
Dip2a	T	C	10: 76,157,365 (GRCm39)	K80R	probably benign	Het
Dnajb5	G	T	4: 42,957,083 (GRCm39)	D257Y	probably damaging	Het
Dynll1	T	C	5: 115,438,565 (GRCm39)		probably benign	Het
Edn1	T	A	13: 42,458,430 (GRCm39)	V81E	probably damaging	Het
F5	T	C	1: 164,039,332 (GRCm39)	S1981P	probably damaging	Het
Fam186b	T	A	15: 99,178,400 (GRCm39)	M309L	probably benign	Het
Gm14221	G	A	2: 160,416,597 (GRCm39)		noncoding transcript	Het
Gnptab	T	A	10: 88,267,328 (GRCm39)		probably benign	Het
Golgb1	AAGAGAGAGAGAGAGA	AAGAGAGAGAGAGA	16: 36,735,567 (GRCm39)		probably null	Het
Gpr176	A	G	2: 118,114,493 (GRCm39)	C106R	probably damaging	Het
Hdac7	A	T	15: 97,704,560 (GRCm39)		probably null	Het
Hlx	T	C	1: 184,463,837 (GRCm39)	S168G	probably damaging	Het
Hnf1a	G	T	5: 115,088,747 (GRCm39)		probably benign	Het
Hp1bp3	C	T	4: 137,949,472 (GRCm39)	L19F	possibly damaging	Het
Hspa14	T	A	2: 3,512,086 (GRCm39)	T63S	probably damaging	Het
Insrr	C	T	3: 87,708,179 (GRCm39)	S207F	probably damaging	Het
Jak3	C	A	8: 72,134,918 (GRCm39)		probably benign	Het
Jmjd7	G	A	2: 119,860,822 (GRCm39)	A91T	probably damaging	Het
Lgals9	G	T	11: 78,856,638 (GRCm39)	H265Q	possibly damaging	Het
Lrriq1	T	G	10: 102,997,638 (GRCm39)	N1326H	probably damaging	Het
Mdn1	C	A	4: 32,672,837 (GRCm39)	Q486K	probably benign	Het
Mpeg1	A	G	19: 12,439,123 (GRCm39)	T194A	probably damaging	Het
Nek5	T	A	8: 22,578,813 (GRCm39)		probably benign	Het
Pcgf2	A	C	11: 97,582,873 (GRCm39)	I135M	probably benign	Het
Phactr1	G	T	13: 43,213,067 (GRCm39)	A222S	probably benign	Het
Pla2r1	T	C	2: 60,309,859 (GRCm39)	S575G	probably benign	Het
Plcg2	T	C	8: 118,341,027 (GRCm39)		probably null	Het
Pold3	A	G	7: 99,770,590 (GRCm39)	V14A	probably damaging	Het
Polg	A	G	7: 79,109,899 (GRCm39)		probably benign	Het
Poteg	T	G	8: 27,939,986 (GRCm39)	L48V	possibly damaging	Het
Prmt1	A	T	7: 44,631,203 (GRCm39)	C50S	probably benign	Het
Prx	T	A	7: 27,217,620 (GRCm39)	V707E	probably damaging	Het
Rrp12	C	T	19: 41,863,144 (GRCm39)		probably benign	Het
Saxo1	A	T	4: 86,363,340 (GRCm39)	V381E	probably damaging	Het
Sh2d2a	T	C	3: 87,754,416 (GRCm39)		probably null	Het
Slc26a5	A	C	5: 22,051,343 (GRCm39)	I57R	probably damaging	Het
Slc38a3	T	A	9: 107,532,412 (GRCm39)		probably null	Het
Slc5a4b	T	C	10: 75,926,534 (GRCm39)	T188A	probably damaging	Het
Slc7a13	A	G	4: 19,824,010 (GRCm39)	I260V	probably benign	Het
Smg8	A	T	11: 86,977,288 (GRCm39)	S98T	probably benign	Het
Spart	T	A	3: 55,035,786 (GRCm39)	S548R	probably damaging	Het
Sult6b1	C	T	17: 79,212,958 (GRCm39)	G98S	probably damaging	Het
Tbc1d2	A	G	4: 46,649,806 (GRCm39)	Y77H	probably damaging	Het
Tet2	T	A	3: 133,172,565 (GRCm39)	D1899V	probably damaging	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Uap1l1	T	C	2: 25,253,289 (GRCm39)	E382G	probably damaging	Het
Ugt1a10	C	T	1: 88,145,971 (GRCm39)	P473L	probably damaging	Het
Ugt1a9	T	C	1: 87,999,114 (GRCm39)	V188A	probably damaging	Het
Virma	T	C	4: 11,519,416 (GRCm39)		probably null	Het
Xrcc6	T	C	15: 81,906,793 (GRCm39)		probably benign	Het
Zfp719	A	G	7: 43,238,677 (GRCm39)		probably null	Het
Zfp804b	T	A	5: 6,822,014 (GRCm39)	T350S	probably benign	Het
Zfp959	G	T	17: 56,203,201 (GRCm39)	R61M	probably null	Het

Other mutations in Cyth4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00936:Cyth4	APN	15	78,504,113 (GRCm39)	missense	probably benign	0.00
R0584:Cyth4	UTSW	15	78,494,078 (GRCm39)	splice site	probably null
R2018:Cyth4	UTSW	15	78,492,371 (GRCm39)	missense	probably damaging	1.00
R3804:Cyth4	UTSW	15	78,494,002 (GRCm39)	missense	probably damaging	1.00
R3811:Cyth4	UTSW	15	78,488,849 (GRCm39)	missense	probably damaging	1.00
R4728:Cyth4	UTSW	15	78,486,913 (GRCm39)	missense	probably benign	0.01
R4738:Cyth4	UTSW	15	78,490,074 (GRCm39)	missense	probably benign	0.02
R5392:Cyth4	UTSW	15	78,491,185 (GRCm39)	missense	probably damaging	1.00
R5594:Cyth4	UTSW	15	78,491,275 (GRCm39)	splice site	probably null
R6414:Cyth4	UTSW	15	78,492,346 (GRCm39)	missense	probably damaging	0.97
R7241:Cyth4	UTSW	15	78,491,245 (GRCm39)	missense	probably benign	0.38
R7472:Cyth4	UTSW	15	78,490,094 (GRCm39)	missense	probably damaging	1.00
R8253:Cyth4	UTSW	15	78,486,937 (GRCm39)	missense	probably benign	0.09
R8372:Cyth4	UTSW	15	78,481,335 (GRCm39)	start gained	probably benign
R8952:Cyth4	UTSW	15	78,486,937 (GRCm39)	missense	probably benign	0.09
Z1177:Cyth4	UTSW	15	78,504,119 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTAGAAGAGGGGCATCTCCCATC -3'
(R):5'- TGTAAGAAGACTGCTGGGCTGTAGG -3'

Sequencing Primer
(F):5'- GGGGCATCTCCCATCATGAAC -3'
(R):5'- GCTGTAGGTTGAGAGACCC -3'

Posted On

2013-06-12