Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00484:Exph5'

4889

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Exph5

Ensembl Gene

ENSMUSG00000034584

Gene Name

exophilin 5

Synonyms

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00484

Quality Score

Status

Chromosome

Chromosomal Location

53301670-53377514 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 53376706 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1696 (Q1696*)

Ref Sequence

ENSEMBL: ENSMUSP00000062632 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000051014
AA Change: Q1696*

SMART Domains

Protein: ENSMUSP00000062632
Gene: ENSMUSG00000034584
AA Change: Q1696*

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

Coding Region Coverage

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810013L24Rik	T	C	16: 8,831,311		probably benign	Het
Adgra1	A	G	7: 139,875,944	Q496R	probably benign	Het
Ankrd17	A	T	5: 90,268,361	S1151T	probably damaging	Het
Ankrd55	A	G	13: 112,367,794	K330R	probably benign	Het
Anln	A	T	9: 22,360,824	Y666*	probably null	Het
Atp1a2	A	G	1: 172,276,002	W984R	probably damaging	Het
Atp8b3	G	T	10: 80,526,164		probably benign	Het
Casc3	A	G	11: 98,823,202	E420G	possibly damaging	Het
Cep250	G	A	2: 155,991,329	D1724N	probably benign	Het
Dhx15	T	G	5: 52,166,812	E379D	probably benign	Het
Dock1	T	A	7: 135,146,531		probably benign	Het
Fkbp6	C	A	5: 135,339,948	A213S	possibly damaging	Het
Fndc4	A	G	5: 31,293,496		probably benign	Het
Gli3	A	T	13: 15,644,392	T260S	possibly damaging	Het
Glmp	T	A	3: 88,325,862		probably null	Het
Gm12794	T	C	4: 101,941,701	F290L	probably benign	Het
Gm13101	G	A	4: 143,966,614		probably benign	Het
Hist1h2an	G	T	13: 21,786,921	R100S	probably benign	Het
Ighv1-19	G	A	12: 114,708,709	T97I	probably benign	Het
Kdm6b	T	C	11: 69,406,306	S407G	possibly damaging	Het
Lrp1b	T	C	2: 41,110,861	Y2231C	probably damaging	Het
Lyst	T	A	13: 13,709,603	S2999T	probably benign	Het
Lztr1	T	C	16: 17,517,450		probably benign	Het
N4bp2	T	C	5: 65,807,524	V972A	probably damaging	Het
Ncoa6	A	T	2: 155,406,208	S1725R	probably damaging	Het
Nfkbiz	A	G	16: 55,817,909	V396A	probably benign	Het
Nup205	A	G	6: 35,214,802	Q1074R	probably damaging	Het
Pard3	T	C	8: 127,371,846	V456A	probably benign	Het
Peli1	T	A	11: 21,146,952	V114E	probably damaging	Het
Phf20l1	T	G	15: 66,615,633		probably benign	Het
Pik3r1	A	C	13: 101,701,747	I267S	probably benign	Het
Polh	C	T	17: 46,172,243		probably benign	Het
Ppl	A	G	16: 5,087,952	I1493T	probably benign	Het
Prg3	A	G	2: 84,988,747	I6V	probably benign	Het
Ptprg	T	C	14: 12,215,220	V1069A	probably damaging	Het
Rasal2	A	T	1: 157,174,175		probably null	Het
Slc36a2	A	T	11: 55,162,788	Y341*	probably null	Het
Smim4	T	A	14: 31,088,922		probably benign	Het
Snapc3	A	G	4: 83,436,396	I215V	probably damaging	Het
Srrm2	T	A	17: 23,818,518	S1475T	probably benign	Het
Sycp2	A	T	2: 178,382,348	D414E	probably damaging	Het
Tanc1	A	G	2: 59,793,176	T468A	probably benign	Het
Tfap2d	A	G	1: 19,142,881	T310A	probably benign	Het
Tgfbr2	T	A	9: 116,158,289	I51F	probably benign	Het
Trip11	A	T	12: 101,885,311	C546*	probably null	Het
Ttbk2	C	T	2: 120,773,886	W210*	probably null	Het
Upk1b	T	G	16: 38,780,016	N201H	possibly damaging	Het
Ush2a	A	T	1: 188,782,513	T3180S	probably benign	Het
Vps13d	T	G	4: 145,126,575	Q2323P	probably benign	Het
Zfp810	A	T	9: 22,278,309	Y434*	probably null	Het

Other mutations in Exph5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01387:Exph5	APN	9	53373965	missense	possibly damaging	0.95
IGL01985:Exph5	APN	9	53376569	missense	probably damaging	0.99
IGL02122:Exph5	APN	9	53373674	missense	probably benign	0.05
IGL02156:Exph5	APN	9	53375641	missense	probably damaging	0.96
IGL02192:Exph5	APN	9	53376325	nonsense	probably null
IGL02491:Exph5	APN	9	53375043	missense	possibly damaging	0.89
PIT4802001:Exph5	UTSW	9	53374978	missense	probably damaging	0.96
R0002:Exph5	UTSW	9	53373956	missense	probably damaging	0.99
R0026:Exph5	UTSW	9	53376479	missense	probably benign	0.38
R0086:Exph5	UTSW	9	53337930	missense	possibly damaging	0.90
R0152:Exph5	UTSW	9	53353204	critical splice donor site	probably null
R0369:Exph5	UTSW	9	53373302	missense	probably benign	0.35
R0409:Exph5	UTSW	9	53374343	missense	probably benign	0.00
R0517:Exph5	UTSW	9	53372762	missense	probably benign	0.02
R0658:Exph5	UTSW	9	53377475	missense	unknown
R1606:Exph5	UTSW	9	53374295	missense	probably benign	0.37
R1739:Exph5	UTSW	9	53375588	missense	possibly damaging	0.62
R1769:Exph5	UTSW	9	53373809	missense	probably benign	0.35
R1828:Exph5	UTSW	9	53376641	missense	possibly damaging	0.79
R1862:Exph5	UTSW	9	53376248	missense	probably benign
R1993:Exph5	UTSW	9	53373635	missense	possibly damaging	0.79
R2012:Exph5	UTSW	9	53367166	missense	possibly damaging	0.49
R2044:Exph5	UTSW	9	53372679	missense	possibly damaging	0.79
R2402:Exph5	UTSW	9	53374925	nonsense	probably null
R3817:Exph5	UTSW	9	53375494	nonsense	probably null
R4771:Exph5	UTSW	9	53373665	missense	possibly damaging	0.95
R4869:Exph5	UTSW	9	53376239	missense	possibly damaging	0.73
R4926:Exph5	UTSW	9	53376625	missense	possibly damaging	0.95
R4996:Exph5	UTSW	9	53375610	missense	possibly damaging	0.79
R5254:Exph5	UTSW	9	53337930	missense	probably damaging	0.99
R5522:Exph5	UTSW	9	53374313	missense	possibly damaging	0.90
R5947:Exph5	UTSW	9	53375222	missense	probably benign	0.04
R5961:Exph5	UTSW	9	53377255	missense	probably damaging	1.00
R6093:Exph5	UTSW	9	53372617	missense	possibly damaging	0.94
R6144:Exph5	UTSW	9	53373028	missense	probably benign	0.21
R6254:Exph5	UTSW	9	53372710	missense	possibly damaging	0.81
R6279:Exph5	UTSW	9	53373946	missense	possibly damaging	0.78
R6300:Exph5	UTSW	9	53373946	missense	possibly damaging	0.78
R6485:Exph5	UTSW	9	53376691	missense	possibly damaging	0.89
R6553:Exph5	UTSW	9	53301712	start gained	probably benign
R6792:Exph5	UTSW	9	53375317	missense	possibly damaging	0.52
R7026:Exph5	UTSW	9	53340428	missense	probably benign	0.27
R7340:Exph5	UTSW	9	53377009	missense	probably damaging	0.99
R7347:Exph5	UTSW	9	53375896	missense	possibly damaging	0.79
R7352:Exph5	UTSW	9	53375722	missense	probably benign	0.00
R7520:Exph5	UTSW	9	53367214	critical splice donor site	probably null
R7521:Exph5	UTSW	9	53374077	missense	possibly damaging	0.89
R7560:Exph5	UTSW	9	53375773	missense	probably benign	0.41
R7581:Exph5	UTSW	9	53372557	missense	possibly damaging	0.90
R7726:Exph5	UTSW	9	53373175	missense	possibly damaging	0.62
R7976:Exph5	UTSW	9	53376635	missense	possibly damaging	0.79
R8017:Exph5	UTSW	9	53373452	missense	probably benign
R8019:Exph5	UTSW	9	53373452	missense	probably benign
R8302:Exph5	UTSW	9	53376476	missense	possibly damaging	0.89
R8420:Exph5	UTSW	9	53375848	nonsense	probably null
R8551:Exph5	UTSW	9	53374051	missense	possibly damaging	0.94
X0028:Exph5	UTSW	9	53376263	missense	probably damaging	1.00
Z1177:Exph5	UTSW	9	53374213	missense	probably benign	0.44
Z1177:Exph5	UTSW	9	53377419	missense	probably benign

Posted On

2012-04-20