Mutagenetix > Incidental Mutation

Incidental Mutation 'R4869:Exph5'

376423

Institutional Source

Beutler Lab

Gene Symbol

Exph5

Ensembl Gene

ENSMUSG00000034584

Gene Name

exophilin 5

Synonyms

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

MMRRC Submission

042479-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4869 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53212970-53288814 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 53287539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 1540 (D1540A)

Ref Sequence

ENSEMBL: ENSMUSP00000062632 (fasta)

Gene Model

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

AlphaFold

Q0VAV2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051014
AA Change: D1540A

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000062632
Gene: ENSMUSG00000034584
AA Change: D1540A

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

0.1426

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

99% (102/103)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,161,488 (GRCm39)	K943N	probably damaging	Het
Abca13	G	A	11: 9,265,434 (GRCm39)		probably null	Het
Ankub1	A	G	3: 57,597,751 (GRCm39)	L73P	probably damaging	Het
Birc6	A	G	17: 74,893,007 (GRCm39)	I982V	probably benign	Het
Cabyr	G	T	18: 12,884,875 (GRCm39)	*454L	probably null	Het
Ccdc57	C	T	11: 120,794,344 (GRCm39)		probably null	Het
Cd209c	A	G	8: 3,994,077 (GRCm39)	F128L	probably benign	Het
Cdh23	A	T	10: 60,212,713 (GRCm39)	I1566N	probably damaging	Het
Cdon	T	C	9: 35,364,200 (GRCm39)	V106A	possibly damaging	Het
Cebpa	G	T	7: 34,819,246 (GRCm39)	G135C	probably damaging	Het
Cfap65	A	G	1: 74,958,420 (GRCm39)	S896P	probably benign	Het
Ciz1	T	C	2: 32,254,247 (GRCm39)	S63P	probably damaging	Het
Clybl	G	A	14: 122,621,618 (GRCm39)	V269M	probably damaging	Het
Ctnnb1	G	T	9: 120,782,060 (GRCm39)	V358L	possibly damaging	Het
Cwh43	G	T	5: 73,586,016 (GRCm39)		probably null	Het
Cyp2d10	G	A	15: 82,287,967 (GRCm39)	R379C	probably benign	Het
Dab2ip	C	A	2: 35,610,049 (GRCm39)	R727S	probably damaging	Het
Dmrt1	T	A	19: 25,483,219 (GRCm39)	M1K	probably null	Het
Dock1	A	T	7: 134,335,800 (GRCm39)	I65F	probably damaging	Het
Ercc2	T	C	7: 19,120,732 (GRCm39)	V155A	probably damaging	Het
Fat3	T	A	9: 16,288,773 (GRCm39)	H250L	probably damaging	Het
Fbxw10	C	A	11: 62,753,557 (GRCm39)	A517E	probably damaging	Het
Furin	A	T	7: 80,046,727 (GRCm39)	N176K	probably damaging	Het
Gabrb3	A	G	7: 57,442,207 (GRCm39)		probably benign	Het
Gabrg2	A	T	11: 41,811,231 (GRCm39)	S305T	probably damaging	Het
Gas6	G	T	8: 13,525,086 (GRCm39)	S299R	possibly damaging	Het
Gga3	G	T	11: 115,477,111 (GRCm39)		probably benign	Het
Gle1	A	G	2: 29,826,032 (GRCm39)	E37G	possibly damaging	Het
Gm7964	A	G	7: 83,405,350 (GRCm39)	D80G	possibly damaging	Het
Gne	C	T	4: 44,055,204 (GRCm39)		probably null	Het
Grid2	G	T	6: 64,406,724 (GRCm39)	G695W	probably damaging	Het
H2-M10.6	A	T	17: 37,123,425 (GRCm39)	M40L	probably benign	Het
Hectd4	G	T	5: 121,460,735 (GRCm39)	V905L	possibly damaging	Het
Isyna1	C	A	8: 71,049,412 (GRCm39)	S441R	possibly damaging	Het
Kcnh3	C	T	15: 99,139,913 (GRCm39)	S933L	probably benign	Het
Knl1	T	C	2: 118,902,832 (GRCm39)	I1511T	possibly damaging	Het
Krt73	T	C	15: 101,704,833 (GRCm39)	E351G	probably damaging	Het
Lipo4	C	T	19: 33,478,953 (GRCm39)		probably null	Het
Llgl1	T	A	11: 60,598,036 (GRCm39)	L360*	probably null	Het
Map2k5	G	A	9: 63,229,525 (GRCm39)	R169*	probably null	Het
Muc19	A	T	15: 91,781,910 (GRCm39)		noncoding transcript	Het
Muc4	G	A	16: 32,754,836 (GRCm38)		probably benign	Het
Myh4	A	G	11: 67,143,490 (GRCm39)	E1074G	probably damaging	Het
Naip5	C	T	13: 100,381,639 (GRCm39)	G210E	probably damaging	Het
Nalcn	A	G	14: 123,837,296 (GRCm39)	S23P	probably benign	Het
Nepro	T	A	16: 44,550,536 (GRCm39)	M176K	probably damaging	Het
Nlrp6	G	A	7: 140,504,006 (GRCm39)	C704Y	probably damaging	Het
Notch1	A	G	2: 26,361,191 (GRCm39)	S1100P	probably benign	Het
Nrxn3	A	G	12: 88,762,352 (GRCm39)	E133G	possibly damaging	Het
Obi1	A	G	14: 104,716,252 (GRCm39)	I707T	probably damaging	Het
Parp9	T	C	16: 35,777,274 (GRCm39)	L406S	probably damaging	Het
Peak1	G	T	9: 56,134,876 (GRCm39)	A155D	probably benign	Het
Piezo1	G	A	8: 123,214,284 (GRCm39)	H1628Y	probably benign	Het
Piwil2	A	G	14: 70,632,811 (GRCm39)	V587A	probably benign	Het
Pkn2	A	G	3: 142,509,379 (GRCm39)	Y722H	probably damaging	Het
Plch2	A	T	4: 155,073,885 (GRCm39)	I834K	probably benign	Het
Pld1	A	G	3: 28,163,951 (GRCm39)	T795A	possibly damaging	Het
Plekhh1	A	G	12: 79,097,160 (GRCm39)	S103G	probably benign	Het
Ppl	T	C	16: 4,922,753 (GRCm39)	Y246C	probably damaging	Het
Prpf40b	G	A	15: 99,207,726 (GRCm39)		probably benign	Het
Prr14l	A	G	5: 32,986,177 (GRCm39)	L1106P	probably damaging	Het
Ptbp3	T	A	4: 59,524,443 (GRCm39)	I28F	possibly damaging	Het
Ptrh2	A	T	11: 86,580,631 (GRCm39)	K83*	probably null	Het
Rai1	T	C	11: 60,077,588 (GRCm39)	S551P	probably damaging	Het
Rapgefl1	A	T	11: 98,741,935 (GRCm39)	Q633L	probably damaging	Het
Rb1cc1	T	C	1: 6,285,245 (GRCm39)		probably benign	Het
Rif1	T	A	2: 51,983,623 (GRCm39)		probably benign	Het
Rnf141	A	G	7: 110,424,557 (GRCm39)	Y101H	probably damaging	Het
Rttn	T	A	18: 89,061,138 (GRCm39)	L1102*	probably null	Het
Sall4	G	A	2: 168,597,637 (GRCm39)	S401F	probably damaging	Het
Saxo5	G	A	8: 3,537,148 (GRCm39)	S498N	probably damaging	Het
Sec11c	T	C	18: 65,934,541 (GRCm39)	I36T	probably benign	Het
Sel1l	A	G	12: 91,780,828 (GRCm39)		probably benign	Het
Setd1a	T	C	7: 127,396,776 (GRCm39)		probably benign	Het
Sez6l2	C	T	7: 126,561,014 (GRCm39)	P433L	probably benign	Het
Sgf29	T	C	7: 126,248,547 (GRCm39)		probably benign	Het
Slc47a1	A	G	11: 61,253,520 (GRCm39)	V305A	probably benign	Het
Slco1a8	T	C	6: 141,933,492 (GRCm39)	D431G	probably damaging	Het
Sun2	T	C	15: 79,612,587 (GRCm39)		probably benign	Het
Tecta	T	C	9: 42,286,830 (GRCm39)	S609G	probably benign	Het
Tmprss6	T	A	15: 78,327,880 (GRCm39)		probably null	Het
Tns1	T	C	1: 73,991,774 (GRCm39)	H968R	probably benign	Het
Tomm34	G	A	2: 163,896,637 (GRCm39)	A270V	probably damaging	Het
Tpo	T	C	12: 30,153,364 (GRCm39)	K330R	probably benign	Het
Ttn	T	A	2: 76,542,837 (GRCm39)	Y33383F	probably damaging	Het
Unc13c	G	T	9: 73,587,716 (GRCm39)	A1439D	probably benign	Het
Vcp	C	T	4: 42,993,691 (GRCm39)	R147H	probably benign	Het
Vps13d	A	G	4: 144,854,612 (GRCm39)	L2272P	probably damaging	Het
Wdfy3	A	G	5: 102,042,787 (GRCm39)	L1988P	probably damaging	Het
Wwc2	A	G	8: 48,373,713 (GRCm39)	F51S	probably damaging	Het
Zfp454	C	T	11: 50,763,980 (GRCm39)	C373Y	probably damaging	Het
Zfp853	A	T	5: 143,274,048 (GRCm39)	V473E	probably damaging	Het
Zfp959	A	T	17: 56,204,228 (GRCm39)	R85S	possibly 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
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
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'- TGGGTCAGACTGCCAAAACC -3'
(R):5'- AGCCAGATTCGCTTTCACTTTG -3'

Sequencing Primer
(F):5'- CCCGACTGATAAAATGCTCTCTG -3'
(R):5'- TCACTTTGGGAGAAGATAGTAGCTAC -3'

Posted On

2016-03-17