Mutagenetix > Incidental Mutation

Incidental Mutation 'R2044:Exph5'

221681

Institutional Source

Beutler Lab

Gene Symbol

Exph5

Ensembl Gene

ENSMUSG00000034584

Gene Name

exophilin 5

Synonyms

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

MMRRC Submission

040051-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2044 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53301670-53377514 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53372679 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 353 (R353S)

Ref Sequence

ENSEMBL: ENSMUSP00000062632 (fasta)

Gene Model

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

AlphaFold

Q0VAV2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051014
AA Change: R353S

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000062632
Gene: ENSMUSG00000034584
AA Change: R353S

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

98% (92/94)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	G	A	17: 36,978,094 (GRCm38)		probably benign	Het
Abhd15	A	G	11: 77,518,338 (GRCm38)	T293A	probably benign	Het
Aldh1l1	C	T	6: 90,562,665 (GRCm38)	P192L	probably benign	Het
Aldoart1	T	G	4: 72,852,542 (GRCm38)	I10L	probably benign	Het
Ankhd1	G	A	18: 36,645,113 (GRCm38)	G1653D	probably benign	Het
Ankk1	A	C	9: 49,419,364 (GRCm38)		probably null	Het
Astn1	A	G	1: 158,600,502 (GRCm38)	T748A	possibly damaging	Het
Bmp7	C	A	2: 172,939,915 (GRCm38)	R52L	possibly damaging	Het
Ccdc151	T	G	9: 21,991,858 (GRCm38)	T419P	possibly damaging	Het
Ccdc33	G	A	9: 58,031,112 (GRCm38)	P859S	possibly damaging	Het
Ccny	A	G	18: 9,449,644 (GRCm38)	S10P	probably damaging	Het
Cdc6	C	A	11: 98,910,461 (GRCm38)	F179L	probably benign	Het
Cdc7	T	A	5: 106,983,132 (GRCm38)	V491E	probably benign	Het
Cdh23	G	T	10: 60,596,730 (GRCm38)	S138R	possibly damaging	Het
Cenpc1	T	C	5: 86,037,755 (GRCm38)	H299R	probably benign	Het
Ciart	A	T	3: 95,878,701 (GRCm38)	M354K	probably benign	Het
Clasrp	G	T	7: 19,586,715 (GRCm38)		probably benign	Het
Col4a3	G	A	1: 82,696,319 (GRCm38)	G1132E	unknown	Het
Crebbp	G	A	16: 4,084,823 (GRCm38)	T2184I	probably benign	Het
Cyp2r1	A	C	7: 114,550,405 (GRCm38)	M458R	probably damaging	Het
Cyp7a1	C	A	4: 6,275,492 (GRCm38)	R27M	probably null	Het
Ddhd2	A	G	8: 25,752,165 (GRCm38)	F116L	probably damaging	Het
Dgkd	G	A	1: 87,927,691 (GRCm38)	R685K	probably benign	Het
Dnah2	A	G	11: 69,524,240 (GRCm38)	S223P	probably benign	Het
F11	C	A	8: 45,252,118 (GRCm38)	V129F	probably benign	Het
F830045P16Rik	A	T	2: 129,459,397 (GRCm38)	S454T	possibly damaging	Het
Fam124a	T	C	14: 62,587,207 (GRCm38)	I50T	probably damaging	Het
Fam20c	T	C	5: 138,756,227 (GRCm38)		probably null	Het
Fam234b	A	G	6: 135,226,914 (GRCm38)	T405A	probably benign	Het
Fbxo18	C	A	2: 11,762,970 (GRCm38)	V356L	possibly damaging	Het
Flywch1	G	A	17: 23,762,313 (GRCm38)	Q132*	probably null	Het
Foxo6	T	C	4: 120,286,969 (GRCm38)	D95G	probably benign	Het
Ggt5	T	C	10: 75,604,087 (GRCm38)	F174S	probably damaging	Het
Gm7104	G	A	12: 88,285,781 (GRCm38)		noncoding transcript	Het
Gpr155	A	G	2: 73,373,633 (GRCm38)	L279P	probably damaging	Het
H2-T23	A	G	17: 36,032,191 (GRCm38)	L98P	probably damaging	Het
Heatr5a	A	G	12: 51,955,403 (GRCm38)	V250A	probably benign	Het
Heyl	A	T	4: 123,241,363 (GRCm38)	I50F	probably damaging	Het
Hist4h4	G	C	6: 136,804,103 (GRCm38)	R93G	possibly damaging	Het
Ifitm10	A	T	7: 142,356,034 (GRCm38)	S179R	probably damaging	Het
Isg15	A	T	4: 156,199,792 (GRCm38)	I93N	probably benign	Het
Itga10	G	A	3: 96,657,690 (GRCm38)	V985I	probably benign	Het
Itga10	C	T	3: 96,651,738 (GRCm38)		probably benign	Het
Kcnt2	T	C	1: 140,375,154 (GRCm38)	I144T	probably benign	Het
Klk1	A	C	7: 44,229,034 (GRCm38)	K104T	possibly damaging	Het
Lemd3	C	A	10: 120,933,442 (GRCm38)	R654L	probably damaging	Het
Lmod1	A	T	1: 135,364,387 (GRCm38)	M327L	probably benign	Het
Lonrf2	T	C	1: 38,807,050 (GRCm38)	E347G	probably benign	Het
Ltbp1	A	G	17: 75,276,432 (GRCm38)	Y409C	probably damaging	Het
Mecom	A	T	3: 29,980,592 (GRCm38)	Y312N	probably damaging	Het
Mrgprb3	C	T	7: 48,643,734 (GRCm38)	C23Y	possibly damaging	Het
Mut	A	G	17: 40,941,451 (GRCm38)	T295A	probably benign	Het
Nadk	C	A	4: 155,585,441 (GRCm38)	L194I	probably damaging	Het
Naxd	A	G	8: 11,509,510 (GRCm38)	I182V	probably benign	Het
Nbeal1	T	A	1: 60,319,687 (GRCm38)	I1176K	probably damaging	Het
Nol4l	C	A	2: 153,529,521 (GRCm38)	R81L	possibly damaging	Het
Olfr1297	T	A	2: 111,621,814 (GRCm38)	R87W	probably benign	Het
Olfr1411	G	T	1: 92,596,969 (GRCm38)	R150L	probably benign	Het
Olfr957	A	T	9: 39,511,378 (GRCm38)	M114K	probably damaging	Het
Pcdh18	A	G	3: 49,754,940 (GRCm38)	V642A	probably benign	Het
Pdzk1	G	A	3: 96,855,848 (GRCm38)		probably benign	Het
Per3	C	T	4: 151,033,938 (GRCm38)	V233I	probably benign	Het
Pisd	G	A	5: 32,764,796 (GRCm38)	P267S	possibly damaging	Het
Prm1	T	A	16: 10,796,493 (GRCm38)		probably benign	Het
Ptprj	A	G	2: 90,463,095 (GRCm38)	V548A	probably damaging	Het
Ranbp3	G	A	17: 56,673,367 (GRCm38)		probably benign	Het
Raver2	T	A	4: 101,102,812 (GRCm38)	V163D	probably damaging	Het
Rbm14	A	T	19: 4,803,877 (GRCm38)	I159N	possibly damaging	Het
Rfx6	G	A	10: 51,718,126 (GRCm38)	V381I	probably benign	Het
Rhobtb1	T	C	10: 69,272,863 (GRCm38)		probably benign	Het
Rpl28-ps4	T	A	6: 117,213,895 (GRCm38)		noncoding transcript	Het
Rsph10b	A	G	5: 143,967,250 (GRCm38)		probably null	Het
Rspo4	A	G	2: 151,873,093 (GRCm38)	K217E	unknown	Het
Scgb2b27	G	A	7: 34,013,285 (GRCm38)	A44V	possibly damaging	Het
Sec14l2	G	A	11: 4,111,435 (GRCm38)		probably benign	Het
Sec31b	T	C	19: 44,536,156 (GRCm38)	N101D	probably benign	Het
Sema6a	A	T	18: 47,306,429 (GRCm38)	C9*	probably null	Het
Sept5	A	C	16: 18,623,012 (GRCm38)	L331R	probably benign	Het
Slc16a11	C	A	11: 70,215,651 (GRCm38)	Y238*	probably null	Het
Slc25a12	T	C	2: 71,312,548 (GRCm38)	T210A	probably benign	Het
Slc35f1	A	T	10: 53,089,347 (GRCm38)	Y286F	probably damaging	Het
Szt2	A	T	4: 118,376,448 (GRCm38)	L2225*	probably null	Het
Thap12	T	C	7: 98,716,620 (GRCm38)	L665P	probably damaging	Het
Tpsb2	T	A	17: 25,367,724 (GRCm38)	W237R	probably damaging	Het
Tyk2	T	C	9: 21,120,341 (GRCm38)	D451G	probably damaging	Het
Ube2j1	T	A	4: 33,049,696 (GRCm38)	N231K	probably benign	Het
Vmn1r225	A	T	17: 20,502,590 (GRCm38)	T98S	possibly damaging	Het
Vmn1r87	A	T	7: 13,131,821 (GRCm38)	S180T	probably benign	Het
Vmn2r6	A	G	3: 64,537,841 (GRCm38)	V821A	probably damaging	Het
Zfp689	C	A	7: 127,444,826 (GRCm38)	G211C	probably damaging	Het
Zfp827	A	G	8: 79,076,236 (GRCm38)	D479G	probably benign	Het
Zfp995	A	C	17: 21,880,594 (GRCm38)	F220V	probably damaging	Het

Other mutations in Exph5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Exph5	APN	9	53,376,706 (GRCm38)	nonsense	probably null
IGL01387:Exph5	APN	9	53,373,965 (GRCm38)	missense	possibly damaging	0.95
IGL01985:Exph5	APN	9	53,376,569 (GRCm38)	missense	probably damaging	0.99
IGL02122:Exph5	APN	9	53,373,674 (GRCm38)	missense	probably benign	0.05
IGL02156:Exph5	APN	9	53,375,641 (GRCm38)	missense	probably damaging	0.96
IGL02192:Exph5	APN	9	53,376,325 (GRCm38)	nonsense	probably null
IGL02491:Exph5	APN	9	53,375,043 (GRCm38)	missense	possibly damaging	0.89
PIT4802001:Exph5	UTSW	9	53,374,978 (GRCm38)	missense	probably damaging	0.96
R0002:Exph5	UTSW	9	53,373,956 (GRCm38)	missense	probably damaging	0.99
R0026:Exph5	UTSW	9	53,376,479 (GRCm38)	missense	probably benign	0.38
R0086:Exph5	UTSW	9	53,337,930 (GRCm38)	missense	possibly damaging	0.90
R0152:Exph5	UTSW	9	53,353,204 (GRCm38)	critical splice donor site	probably null
R0369:Exph5	UTSW	9	53,373,302 (GRCm38)	missense	probably benign	0.35
R0409:Exph5	UTSW	9	53,374,343 (GRCm38)	missense	probably benign	0.00
R0517:Exph5	UTSW	9	53,372,762 (GRCm38)	missense	probably benign	0.02
R0658:Exph5	UTSW	9	53,377,475 (GRCm38)	missense	unknown
R1606:Exph5	UTSW	9	53,374,295 (GRCm38)	missense	probably benign	0.37
R1739:Exph5	UTSW	9	53,375,588 (GRCm38)	missense	possibly damaging	0.62
R1769:Exph5	UTSW	9	53,373,809 (GRCm38)	missense	probably benign	0.35
R1828:Exph5	UTSW	9	53,376,641 (GRCm38)	missense	possibly damaging	0.79
R1862:Exph5	UTSW	9	53,376,248 (GRCm38)	missense	probably benign
R1993:Exph5	UTSW	9	53,373,635 (GRCm38)	missense	possibly damaging	0.79
R2012:Exph5	UTSW	9	53,367,166 (GRCm38)	missense	possibly damaging	0.49
R2402:Exph5	UTSW	9	53,374,925 (GRCm38)	nonsense	probably null
R3817:Exph5	UTSW	9	53,375,494 (GRCm38)	nonsense	probably null
R4771:Exph5	UTSW	9	53,373,665 (GRCm38)	missense	possibly damaging	0.95
R4869:Exph5	UTSW	9	53,376,239 (GRCm38)	missense	possibly damaging	0.73
R4926:Exph5	UTSW	9	53,376,625 (GRCm38)	missense	possibly damaging	0.95
R4996:Exph5	UTSW	9	53,375,610 (GRCm38)	missense	possibly damaging	0.79
R5254:Exph5	UTSW	9	53,337,930 (GRCm38)	missense	probably damaging	0.99
R5522:Exph5	UTSW	9	53,374,313 (GRCm38)	missense	possibly damaging	0.90
R5947:Exph5	UTSW	9	53,375,222 (GRCm38)	missense	probably benign	0.04
R5961:Exph5	UTSW	9	53,377,255 (GRCm38)	missense	probably damaging	1.00
R6093:Exph5	UTSW	9	53,372,617 (GRCm38)	missense	possibly damaging	0.94
R6144:Exph5	UTSW	9	53,373,028 (GRCm38)	missense	probably benign	0.21
R6254:Exph5	UTSW	9	53,372,710 (GRCm38)	missense	possibly damaging	0.81
R6279:Exph5	UTSW	9	53,373,946 (GRCm38)	missense	possibly damaging	0.78
R6300:Exph5	UTSW	9	53,373,946 (GRCm38)	missense	possibly damaging	0.78
R6485:Exph5	UTSW	9	53,376,691 (GRCm38)	missense	possibly damaging	0.89
R6553:Exph5	UTSW	9	53,301,712 (GRCm38)	start gained	probably benign
R6792:Exph5	UTSW	9	53,375,317 (GRCm38)	missense	possibly damaging	0.52
R7026:Exph5	UTSW	9	53,340,428 (GRCm38)	missense	probably benign	0.27
R7340:Exph5	UTSW	9	53,377,009 (GRCm38)	missense	probably damaging	0.99
R7347:Exph5	UTSW	9	53,375,896 (GRCm38)	missense	possibly damaging	0.79
R7352:Exph5	UTSW	9	53,375,722 (GRCm38)	missense	probably benign	0.00
R7520:Exph5	UTSW	9	53,367,214 (GRCm38)	critical splice donor site	probably null
R7521:Exph5	UTSW	9	53,374,077 (GRCm38)	missense	possibly damaging	0.89
R7560:Exph5	UTSW	9	53,375,773 (GRCm38)	missense	probably benign	0.41
R7581:Exph5	UTSW	9	53,372,557 (GRCm38)	missense	possibly damaging	0.90
R7726:Exph5	UTSW	9	53,373,175 (GRCm38)	missense	possibly damaging	0.62
R7976:Exph5	UTSW	9	53,376,635 (GRCm38)	missense	possibly damaging	0.79
R8017:Exph5	UTSW	9	53,373,452 (GRCm38)	missense	probably benign
R8019:Exph5	UTSW	9	53,373,452 (GRCm38)	missense	probably benign
R8302:Exph5	UTSW	9	53,376,476 (GRCm38)	missense	possibly damaging	0.89
R8420:Exph5	UTSW	9	53,375,848 (GRCm38)	nonsense	probably null
R8551:Exph5	UTSW	9	53,374,051 (GRCm38)	missense	possibly damaging	0.94
R8708:Exph5	UTSW	9	53,375,796 (GRCm38)	missense	probably benign
R8889:Exph5	UTSW	9	53,376,655 (GRCm38)	missense	probably damaging	1.00
R9048:Exph5	UTSW	9	53,373,635 (GRCm38)	missense	possibly damaging	0.79
R9255:Exph5	UTSW	9	53,373,309 (GRCm38)	missense	possibly damaging	0.79
R9727:Exph5	UTSW	9	53,376,402 (GRCm38)	missense	probably damaging	0.96
X0028:Exph5	UTSW	9	53,376,263 (GRCm38)	missense	probably damaging	1.00
Z1177:Exph5	UTSW	9	53,377,419 (GRCm38)	missense	probably benign
Z1177:Exph5	UTSW	9	53,374,213 (GRCm38)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- CAGGGAGCCCAGAGTCTTAAAG -3'
(R):5'- TAGCCACAGGGACGTTTAAAG -3'

Sequencing Primer
(F):5'- CTTAAAGGAAGACTTCATGCAAAAG -3'
(R):5'- ACGTTTAAAGGGTAGCTTTGGTAAG -3'

Posted On

2014-08-25