Mutagenetix > Incidental Mutation

Incidental Mutation 'R1769:Exph5'

194703

Institutional Source

Beutler Lab

Gene Symbol

Exph5

Ensembl Gene

ENSMUSG00000034584

Gene Name

exophilin 5

Synonyms

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

MMRRC Submission

039800-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1769 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53212970-53288814 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53285109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 730 (N730S)

Ref Sequence

ENSEMBL: ENSMUSP00000062632 (fasta)

Gene Model

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

AlphaFold

Q0VAV2

Predicted Effect

probably benign
Transcript: ENSMUST00000051014
AA Change: N730S

PolyPhen 2 Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000062632
Gene: ENSMUSG00000034584
AA Change: N730S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132410

Meta Mutation Damage Score

0.0773

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

100% (91/91)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	A	G	5: 138,644,519 (GRCm39)	I135V	probably benign	Het
Abca1	T	A	4: 53,074,325 (GRCm39)	K1119N	probably damaging	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Abcc9	T	C	6: 142,573,194 (GRCm39)		probably benign	Het
Akap3	A	G	6: 126,842,809 (GRCm39)	E476G	possibly damaging	Het
Aldh3b1	A	G	19: 3,968,740 (GRCm39)	F271S	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ascc3	T	C	10: 50,576,586 (GRCm39)	V847A	probably damaging	Het
Best3	A	G	10: 116,859,883 (GRCm39)	N381S	probably benign	Het
Blm	A	T	7: 80,163,118 (GRCm39)	S78T	probably benign	Het
Bmpr2	T	A	1: 59,907,520 (GRCm39)	L871Q	probably damaging	Het
Car13	T	A	3: 14,715,795 (GRCm39)	H104Q	probably benign	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Ccnb1ip1	T	C	14: 51,029,568 (GRCm39)	M165V	probably benign	Het
Cd4	A	T	6: 124,843,618 (GRCm39)	M431K	possibly damaging	Het
Cdh20	C	T	1: 109,980,606 (GRCm39)	T178I	probably damaging	Het
Ceacam3	C	T	7: 16,892,301 (GRCm39)	T348I	probably damaging	Het
Cfap54	C	T	10: 92,740,125 (GRCm39)		probably null	Het
Clcn6	A	T	4: 148,098,758 (GRCm39)		probably null	Het
Csf3	A	G	11: 98,593,246 (GRCm39)	Y121C	probably damaging	Het
Csmd3	C	T	15: 47,567,505 (GRCm39)		probably benign	Het
Cyp2c69	A	G	19: 39,864,815 (GRCm39)	I221T	probably benign	Het
Dgcr2	T	C	16: 17,675,115 (GRCm39)		probably benign	Het
Dhcr7	T	C	7: 143,401,250 (GRCm39)	F474S	probably damaging	Het
Dnah1	T	C	14: 31,032,839 (GRCm39)	I399V	probably null	Het
Efcab14	T	A	4: 115,610,188 (GRCm39)	L183Q	probably damaging	Het
Evx2	A	G	2: 74,489,501 (GRCm39)	V88A	probably benign	Het
Farsb	T	A	1: 78,443,620 (GRCm39)	K196I	probably benign	Het
Fbln7	C	T	2: 128,735,682 (GRCm39)		probably benign	Het
Fhdc1	A	G	3: 84,356,085 (GRCm39)	F453S	probably damaging	Het
Gast	T	A	11: 100,227,684 (GRCm39)	W89R	probably damaging	Het
Gata2	A	G	6: 88,182,237 (GRCm39)	S402G	probably benign	Het
Gin1	T	A	1: 97,720,162 (GRCm39)	S386T	probably benign	Het
Golgb1	A	G	16: 36,736,363 (GRCm39)	E1870G	probably damaging	Het
Hivep3	T	A	4: 119,954,768 (GRCm39)	V1028E	possibly damaging	Het
Ifi203	G	A	1: 173,756,326 (GRCm39)	R486*	probably null	Het
Ifi209	G	A	1: 173,468,728 (GRCm39)	S186N	probably benign	Het
Ifih1	C	T	2: 62,436,738 (GRCm39)	A562T	probably damaging	Het
Itch	T	C	2: 155,014,481 (GRCm39)	L106S	probably damaging	Het
Itga4	T	A	2: 79,146,050 (GRCm39)		probably null	Het
Kdm4c	A	G	4: 74,199,234 (GRCm39)	S141G	possibly damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klra3	T	C	6: 130,307,226 (GRCm39)		probably null	Het
Lama2	G	C	10: 27,084,403 (GRCm39)	F922L	probably benign	Het
Lama2	A	T	10: 27,084,402 (GRCm39)	S923T	probably damaging	Het
Llgl1	G	A	11: 60,597,873 (GRCm39)	V331M	probably damaging	Het
Lrrc30	T	C	17: 67,938,676 (GRCm39)	*301W	probably null	Het
Map1lc3b	C	T	8: 122,320,226 (GRCm39)		probably benign	Het
Mbd2	A	G	18: 70,749,690 (GRCm39)	I302V	probably benign	Het
Med27	A	G	2: 29,390,307 (GRCm39)	Y78C	probably damaging	Het
Mei1	C	T	15: 81,996,771 (GRCm39)		probably null	Het
Mideas	G	A	12: 84,205,124 (GRCm39)		probably benign	Het
Miga1	T	C	3: 151,993,191 (GRCm39)	E346G	probably damaging	Het
Myef2	A	G	2: 124,957,363 (GRCm39)	S131P	probably damaging	Het
Myocd	T	C	11: 65,069,527 (GRCm39)	H899R	probably benign	Het
Ncam1	A	G	9: 49,456,556 (GRCm39)		probably benign	Het
Ngf	T	A	3: 102,427,513 (GRCm39)	N87K	possibly damaging	Het
Nol10	T	A	12: 17,466,709 (GRCm39)		probably benign	Het
Nrip2	A	G	6: 128,385,231 (GRCm39)	I221V	probably benign	Het
Nup205	G	A	6: 35,182,366 (GRCm39)	G777D	probably damaging	Het
Or5ac17	A	G	16: 59,036,344 (GRCm39)	F211L	probably benign	Het
Or5b96	A	G	19: 12,867,047 (GRCm39)	V298A	probably damaging	Het
Or6c1	T	A	10: 129,518,081 (GRCm39)	T176S	probably benign	Het
Or7g35	A	T	9: 19,496,682 (GRCm39)	Q283L	probably damaging	Het
Or8d6	G	T	9: 39,854,251 (GRCm39)	D232Y	probably benign	Het
Oxt	A	T	2: 130,418,220 (GRCm39)	R31W	probably damaging	Het
Pde4dip	A	G	3: 97,603,246 (GRCm39)	S2248P	probably benign	Het
Pias1	A	G	9: 62,859,460 (GRCm39)	V16A	probably damaging	Het
Pkp2	T	C	16: 16,080,561 (GRCm39)	S616P	probably damaging	Het
Plch2	T	C	4: 155,084,540 (GRCm39)	Y379C	probably damaging	Het
Pnpt1	A	G	11: 29,104,159 (GRCm39)	N540D	probably benign	Het
Ptpn23	G	A	9: 110,220,746 (GRCm39)	H255Y	possibly damaging	Het
Rad21	T	C	15: 51,835,703 (GRCm39)	N237D	probably benign	Het
Ryr3	A	C	2: 112,582,113 (GRCm39)		probably null	Het
Sgk1	C	A	10: 21,873,007 (GRCm39)		probably benign	Het
Slc1a5	G	T	7: 16,531,464 (GRCm39)	A490S	probably damaging	Het
Slc5a8	T	C	10: 88,755,326 (GRCm39)	Y478H	probably benign	Het
Slc5a8	T	A	10: 88,755,328 (GRCm39)	Y478*	probably null	Het
Slc9a3	A	T	13: 74,311,190 (GRCm39)	M562L	probably benign	Het
Spmip4	A	G	6: 50,568,801 (GRCm39)		probably benign	Het
Thsd7a	G	A	6: 12,555,714 (GRCm39)	R57*	probably null	Het
Tiam1	T	C	16: 89,657,167 (GRCm39)	R690G	probably damaging	Het
Tmem150b	A	G	7: 4,727,365 (GRCm39)	S47P	probably damaging	Het
Trim39	C	T	17: 36,574,832 (GRCm39)	R190Q	probably damaging	Het
Ttc32	A	T	12: 9,085,073 (GRCm39)	I98L	possibly damaging	Het
Vps13c	A	G	9: 67,873,003 (GRCm39)	T3304A	probably benign	Het
Wdr35	A	C	12: 9,062,728 (GRCm39)	D638A	probably damaging	Het
Wwc1	G	T	11: 35,752,671 (GRCm39)	P797T	probably benign	Het
Zan	T	A	5: 137,462,780 (GRCm39)	T800S	unknown	Het
Zbbx	A	G	3: 74,990,926 (GRCm39)		probably benign	Het
Zup1	T	C	10: 33,811,172 (GRCm39)	M291V	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
R0002:Exph5	UTSW	9	53,285,256 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- GTGGCCTGTAGCCATTCTACTGAC -3'
(R):5'- ACAACCTTGATTTGGGCTGGGAAG -3'

Sequencing Primer
(F):5'- GTAGCCATTCTACTGACTCACTG -3'
(R):5'- AAGAGATGTCGCTGTTCCAC -3'

Posted On

2014-05-23