Mutagenetix > Incidental Mutation

Incidental Mutation 'R0002:Exph5'

8071

Institutional Source

Beutler Lab

Gene Symbol

Exph5

Ensembl Gene

ENSMUSG00000034584

Gene Name

exophilin 5

Synonyms

AC079869.22gm5, Slac2b, slac2-b, B130009M24Rik

MMRRC Submission

038298-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0002 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

53212970-53288814 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 53285256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Isoleucine at position 779 (R779I)

Ref Sequence

ENSEMBL: ENSMUSP00000062632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051014]

AlphaFold

Q0VAV2

Predicted Effect

probably damaging
Transcript: ENSMUST00000051014
AA Change: R779I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000062632
Gene: ENSMUSG00000034584
AA Change: R779I

Domain	Start	End	E-Value	Type
low complexity region	112	131	N/A	INTRINSIC
low complexity region	454	469	N/A	INTRINSIC
low complexity region	673	682	N/A	INTRINSIC
low complexity region	970	980	N/A	INTRINSIC
low complexity region	1556	1568	N/A	INTRINSIC
low complexity region	1747	1757	N/A	INTRINSIC
low complexity region	1937	1959	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 85.4%
3x: 79.5%
10x: 62.0%
20x: 53.1%

Validation Efficiency

95% (61/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the synaptotagmin-like protein (Slp) family lacking a C2 domain. It contains an N-terminal synaptotagmin-like homology domain (SHD), and is a ras-related protein Rab-27B effector protein. This protein is thought to be involved in exosome secretion and intracellular vesicle trafficking. Reduced expression of this gene results in keratin filament defects. Mutations in this gene have been associated with some cases of epidermolysis bullosa, an inherited skin fragility disorder. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	T	C	4: 40,176,649 (GRCm39)		probably benign	Het
Bcl2	T	C	1: 106,640,241 (GRCm39)	R124G	possibly damaging	Het
Bri3	G	T	5: 144,181,312 (GRCm39)	C6F	probably benign	Het
Chn2	A	G	6: 54,250,098 (GRCm39)	N69S	probably benign	Het
Col5a3	T	A	9: 20,721,152 (GRCm39)		probably null	Het
Dhx36	A	C	3: 62,388,260 (GRCm39)	L625W	probably damaging	Het
F5	T	C	1: 164,029,200 (GRCm39)	F1733S	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Iqch	T	C	9: 63,502,025 (GRCm39)		probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Pate14	A	T	9: 36,548,655 (GRCm39)	D59E	probably damaging	Het
Patl2	G	A	2: 121,956,191 (GRCm39)		probably benign	Het
Pik3c2g	A	G	6: 139,714,471 (GRCm39)	T208A	probably benign	Het
Prkag3	T	C	1: 74,783,947 (GRCm39)	D312G	probably damaging	Het
Slc26a5	T	A	5: 22,019,981 (GRCm39)	I530F	probably damaging	Het
Tacc2	T	A	7: 130,223,515 (GRCm39)	S67T	probably damaging	Het
Tas2r113	T	A	6: 132,870,742 (GRCm39)	S257T	probably benign	Het
Tnr	T	C	1: 159,701,770 (GRCm39)	Y624H	probably damaging	Het
Ubr4	T	C	4: 139,118,211 (GRCm39)	L112P	probably damaging	Het

Other mutations in Exph5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Exph5	APN	9	53,288,006 (GRCm39)	nonsense	probably null
IGL01387:Exph5	APN	9	53,285,265 (GRCm39)	missense	possibly damaging	0.95
IGL01985:Exph5	APN	9	53,287,869 (GRCm39)	missense	probably damaging	0.99
IGL02122:Exph5	APN	9	53,284,974 (GRCm39)	missense	probably benign	0.05
IGL02156:Exph5	APN	9	53,286,941 (GRCm39)	missense	probably damaging	0.96
IGL02192:Exph5	APN	9	53,287,625 (GRCm39)	nonsense	probably null
IGL02491:Exph5	APN	9	53,286,343 (GRCm39)	missense	possibly damaging	0.89
PIT4802001:Exph5	UTSW	9	53,286,278 (GRCm39)	missense	probably damaging	0.96
R0026:Exph5	UTSW	9	53,287,779 (GRCm39)	missense	probably benign	0.38
R0086:Exph5	UTSW	9	53,249,230 (GRCm39)	missense	possibly damaging	0.90
R0152:Exph5	UTSW	9	53,264,504 (GRCm39)	critical splice donor site	probably null
R0369:Exph5	UTSW	9	53,284,602 (GRCm39)	missense	probably benign	0.35
R0409:Exph5	UTSW	9	53,285,643 (GRCm39)	missense	probably benign	0.00
R0517:Exph5	UTSW	9	53,284,062 (GRCm39)	missense	probably benign	0.02
R0658:Exph5	UTSW	9	53,288,775 (GRCm39)	missense	unknown
R1606:Exph5	UTSW	9	53,285,595 (GRCm39)	missense	probably benign	0.37
R1739:Exph5	UTSW	9	53,286,888 (GRCm39)	missense	possibly damaging	0.62
R1769:Exph5	UTSW	9	53,285,109 (GRCm39)	missense	probably benign	0.35
R1828:Exph5	UTSW	9	53,287,941 (GRCm39)	missense	possibly damaging	0.79
R1862:Exph5	UTSW	9	53,287,548 (GRCm39)	missense	probably benign
R1993:Exph5	UTSW	9	53,284,935 (GRCm39)	missense	possibly damaging	0.79
R2012:Exph5	UTSW	9	53,278,466 (GRCm39)	missense	possibly damaging	0.49
R2044:Exph5	UTSW	9	53,283,979 (GRCm39)	missense	possibly damaging	0.79
R2402:Exph5	UTSW	9	53,286,225 (GRCm39)	nonsense	probably null
R3817:Exph5	UTSW	9	53,286,794 (GRCm39)	nonsense	probably null
R4771:Exph5	UTSW	9	53,284,965 (GRCm39)	missense	possibly damaging	0.95
R4869:Exph5	UTSW	9	53,287,539 (GRCm39)	missense	possibly damaging	0.73
R4926:Exph5	UTSW	9	53,287,925 (GRCm39)	missense	possibly damaging	0.95
R4996:Exph5	UTSW	9	53,286,910 (GRCm39)	missense	possibly damaging	0.79
R5254:Exph5	UTSW	9	53,249,230 (GRCm39)	missense	probably damaging	0.99
R5522:Exph5	UTSW	9	53,285,613 (GRCm39)	missense	possibly damaging	0.90
R5947:Exph5	UTSW	9	53,286,522 (GRCm39)	missense	probably benign	0.04
R5961:Exph5	UTSW	9	53,288,555 (GRCm39)	missense	probably damaging	1.00
R6093:Exph5	UTSW	9	53,283,917 (GRCm39)	missense	possibly damaging	0.94
R6144:Exph5	UTSW	9	53,284,328 (GRCm39)	missense	probably benign	0.21
R6254:Exph5	UTSW	9	53,284,010 (GRCm39)	missense	possibly damaging	0.81
R6279:Exph5	UTSW	9	53,285,246 (GRCm39)	missense	possibly damaging	0.78
R6300:Exph5	UTSW	9	53,285,246 (GRCm39)	missense	possibly damaging	0.78
R6485:Exph5	UTSW	9	53,287,991 (GRCm39)	missense	possibly damaging	0.89
R6553:Exph5	UTSW	9	53,213,012 (GRCm39)	start gained	probably benign
R6792:Exph5	UTSW	9	53,286,617 (GRCm39)	missense	possibly damaging	0.52
R7026:Exph5	UTSW	9	53,251,728 (GRCm39)	missense	probably benign	0.27
R7340:Exph5	UTSW	9	53,288,309 (GRCm39)	missense	probably damaging	0.99
R7347:Exph5	UTSW	9	53,287,196 (GRCm39)	missense	possibly damaging	0.79
R7352:Exph5	UTSW	9	53,287,022 (GRCm39)	missense	probably benign	0.00
R7520:Exph5	UTSW	9	53,278,514 (GRCm39)	critical splice donor site	probably null
R7521:Exph5	UTSW	9	53,285,377 (GRCm39)	missense	possibly damaging	0.89
R7560:Exph5	UTSW	9	53,287,073 (GRCm39)	missense	probably benign	0.41
R7581:Exph5	UTSW	9	53,283,857 (GRCm39)	missense	possibly damaging	0.90
R7726:Exph5	UTSW	9	53,284,475 (GRCm39)	missense	possibly damaging	0.62
R7976:Exph5	UTSW	9	53,287,935 (GRCm39)	missense	possibly damaging	0.79
R8017:Exph5	UTSW	9	53,284,752 (GRCm39)	missense	probably benign
R8019:Exph5	UTSW	9	53,284,752 (GRCm39)	missense	probably benign
R8302:Exph5	UTSW	9	53,287,776 (GRCm39)	missense	possibly damaging	0.89
R8420:Exph5	UTSW	9	53,287,148 (GRCm39)	nonsense	probably null
R8551:Exph5	UTSW	9	53,285,351 (GRCm39)	missense	possibly damaging	0.94
R8708:Exph5	UTSW	9	53,287,096 (GRCm39)	missense	probably benign
R8889:Exph5	UTSW	9	53,287,955 (GRCm39)	missense	probably damaging	1.00
R9048:Exph5	UTSW	9	53,284,935 (GRCm39)	missense	possibly damaging	0.79
R9255:Exph5	UTSW	9	53,284,609 (GRCm39)	missense	possibly damaging	0.79
R9727:Exph5	UTSW	9	53,287,702 (GRCm39)	missense	probably damaging	0.96
X0028:Exph5	UTSW	9	53,287,563 (GRCm39)	missense	probably damaging	1.00
Z1177:Exph5	UTSW	9	53,288,719 (GRCm39)	missense	probably benign
Z1177:Exph5	UTSW	9	53,285,513 (GRCm39)	missense	probably benign	0.44

Posted On

2012-11-20