Mutagenetix > Incidental Mutation

Incidental Mutation 'R8253:Cyth4'

640150

Institutional Source

Beutler Lab

Gene Symbol

Cyth4

Ensembl Gene

ENSMUSG00000018008

Gene Name

cytohesin 4

Synonyms

Pscd4, 2510004M07Rik, 5830469K17Rik

MMRRC Submission

067679-MU

Accession Numbers

Essential gene?

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

Stock #

R8253 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78481247-78506219 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78486937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 22 (I22V)

Ref Sequence

ENSEMBL: ENSMUSP00000042698 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043069] [ENSMUST00000229248] [ENSMUST00000229256] [ENSMUST00000229295] [ENSMUST00000229717] [ENSMUST00000229796] [ENSMUST00000231168] [ENSMUST00000231180]

AlphaFold

Q80YW0

Predicted Effect

probably benign
Transcript: ENSMUST00000043069
AA Change: I22V

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000042698
Gene: ENSMUSG00000018008
AA Change: I22V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000229248
AA Change: I22V

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000229256

Predicted Effect

probably damaging
Transcript: ENSMUST00000229295
AA Change: I19V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

unknown
Transcript: ENSMUST00000229717
AA Change: I22V

Predicted Effect

probably damaging
Transcript: ENSMUST00000229796
AA Change: I19V

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231168
AA Change: I22V

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231180
AA Change: I22V

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.0783

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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 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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	T	C	18: 61,874,702 (GRCm39)	E493G	probably benign	Het
Akr1a1	A	T	4: 116,493,840 (GRCm39)	D313E	probably damaging	Het
Ap1m1	T	A	8: 73,006,730 (GRCm39)	V242E	probably damaging	Het
Atad2b	T	A	12: 5,024,159 (GRCm39)	S670T	possibly damaging	Het
Atad2b	C	T	12: 5,024,160 (GRCm39)	S670L	probably benign	Het
Atp23	C	T	10: 126,704,543 (GRCm39)	G197S	probably benign	Het
Avpr1b	A	T	1: 131,537,154 (GRCm39)	T313S	probably benign	Het
Cblc	A	G	7: 19,520,157 (GRCm39)	I362T	probably damaging	Het
Ccdc171	T	A	4: 83,661,207 (GRCm39)	S1106T	probably damaging	Het
Cimap3	T	C	3: 105,905,683 (GRCm39)	M193V	probably benign	Het
Csde1	C	A	3: 102,946,037 (GRCm39)	N10K	probably damaging	Het
Csnk2a2	T	C	8: 96,215,005 (GRCm39)	Y24C		Het
Cyb5r4	G	T	9: 86,941,108 (GRCm39)	L420F	probably damaging	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Dner	C	T	1: 84,512,598 (GRCm39)	G323E	probably damaging	Het
Elf1	T	C	14: 79,773,792 (GRCm39)	M1T	probably null	Het
Fam13c	T	C	10: 70,389,033 (GRCm39)	S520P	probably damaging	Het
Fhip1b	T	A	7: 105,028,294 (GRCm39)	H885L	possibly damaging	Het
Gabra2	A	G	5: 71,249,413 (GRCm39)	I30T	probably benign	Het
Gm6793	T	A	8: 112,741,640 (GRCm39)	M1L	probably benign	Het
Inpp5a	T	C	7: 139,061,556 (GRCm39)	L76P	probably damaging	Het
Itih5	T	C	2: 10,243,406 (GRCm39)	I381T	probably benign	Het
Lyrm7	T	C	11: 54,741,227 (GRCm39)	I36V	probably null	Het
Magi2	A	G	5: 20,814,305 (GRCm39)	I906V	probably benign	Het
Mup5	C	T	4: 61,752,811 (GRCm39)	A71T	probably benign	Het
Ndufaf6	G	A	4: 11,059,086 (GRCm39)	R248W	probably damaging	Het
Or52z14	A	T	7: 103,253,538 (GRCm39)	I226L	possibly damaging	Het
Or5p50	A	G	7: 107,421,776 (GRCm39)	I300T	probably damaging	Het
Palm	A	T	10: 79,643,511 (GRCm39)	K80*	probably null	Het
Pcyox1	C	T	6: 86,366,044 (GRCm39)	R390K	probably benign	Het
Pdx1	T	C	5: 147,207,459 (GRCm39)		probably null	Het
Pkp2	T	A	16: 16,086,406 (GRCm39)	V689D	probably damaging	Het
Prkar2a	G	T	9: 108,617,638 (GRCm39)	R232L	probably damaging	Het
Rasgrp4	C	T	7: 28,838,287 (GRCm39)	T87M	possibly damaging	Het
Ryr2	T	A	13: 11,842,439 (GRCm39)	Q486L	possibly damaging	Het
Shd	T	C	17: 56,283,295 (GRCm39)	V309A		Het
Skint7	C	T	4: 111,834,675 (GRCm39)	Q20*	probably null	Het
Slc35g1	C	A	19: 38,391,237 (GRCm39)	T173K	probably damaging	Het
Slit2	T	C	5: 48,433,013 (GRCm39)	F1073L	probably benign	Het
Snx18	T	A	13: 113,731,317 (GRCm39)	D559V	probably damaging	Het
Tbr1	G	T	2: 61,635,585 (GRCm39)	Q178H	probably benign	Het
Tmem145	T	G	7: 25,006,939 (GRCm39)	Y114D	probably damaging	Het
Ttc22	T	C	4: 106,495,717 (GRCm39)	L357P	probably damaging	Het
Uba2	T	C	7: 33,850,323 (GRCm39)	M377V	probably damaging	Het
Vps13c	T	A	9: 67,850,770 (GRCm39)	Y2242*	probably null	Het
Xdh	T	G	17: 74,225,377 (GRCm39)	Q475P	possibly damaging	Het
Zbtb42	T	G	12: 112,646,746 (GRCm39)	L307R	probably damaging	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
R0522:Cyth4	UTSW	15	78,499,985 (GRCm39)	missense	possibly damaging	0.67
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
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'- ACCAGCATCATGGGTCTCAC -3'
(R):5'- TGAACATTTGGTCAGGAGAGTG -3'

Sequencing Primer
(F):5'- ATCATGGGTCTCACTTTATTTCAGG -3'
(R):5'- CTTGTGGGCATATGTAGTTTAGCC -3'

Posted On

2020-07-28