Mutagenetix > Incidental Mutation

Incidental Mutation 'R6254:Exph5'

505994

Institutional Source

Beutler Lab

Gene Symbol

Exph5

Ensembl Gene

ENSMUSG00000034584

Gene Name

exophilin 5

Synonyms

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

MMRRC Submission

044371-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6254 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53212970-53288814 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 53284010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 364 (S364A)

Ref Sequence

ENSEMBL: ENSMUSP00000062632 (fasta)

Gene Model

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

AlphaFold

Q0VAV2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051014
AA Change: S364A

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000062632
Gene: ENSMUSG00000034584
AA Change: S364A

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

0.0769

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.4%

Validation Efficiency

100% (82/82)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	T	12: 113,453,190 (GRCm39)	L2F	probably damaging	Het
Ank2	T	A	3: 126,735,453 (GRCm39)		probably benign	Het
Anpep	T	G	7: 79,488,981 (GRCm39)	D369A	probably damaging	Het
App	T	C	16: 84,775,065 (GRCm39)	E599G	probably damaging	Het
Asphd1	C	T	7: 126,548,040 (GRCm39)	V88I	probably benign	Het
Atad5	A	T	11: 80,018,215 (GRCm39)	I1389F	probably damaging	Het
Blm	T	C	7: 80,130,090 (GRCm39)	N950S	probably benign	Het
Bsn	A	T	9: 107,989,065 (GRCm39)	M2229K	probably damaging	Het
Cacna2d2	A	G	9: 107,386,415 (GRCm39)	M181V	probably benign	Het
Cadps2	T	A	6: 23,329,162 (GRCm39)		probably null	Het
Cdh1	T	A	8: 107,390,430 (GRCm39)	V590D	probably damaging	Het
Cdk5rap2	G	A	4: 70,282,269 (GRCm39)	T160M	probably damaging	Het
Cfap97d2	A	G	8: 13,756,043 (GRCm39)	D26G	possibly damaging	Het
Cfhr4	A	G	1: 139,682,128 (GRCm39)	I156T	probably damaging	Het
Chrna5	A	G	9: 54,913,740 (GRCm39)	M325V	probably benign	Het
Clca3a2	A	G	3: 144,507,895 (GRCm39)	I116T	probably benign	Het
Cyp2c23	T	C	19: 43,993,902 (GRCm39)	K488R	probably benign	Het
Edil3	T	A	13: 89,467,848 (GRCm39)	I451N	probably damaging	Het
Fam98c	A	G	7: 28,853,942 (GRCm39)	S209P	probably damaging	Het
Fat3	G	A	9: 15,907,441 (GRCm39)	L2854F	probably benign	Het
Fbxo38	T	C	18: 62,638,571 (GRCm39)		probably null	Het
Fermt2	T	C	14: 45,713,516 (GRCm39)	D205G	probably damaging	Het
Fmnl1	G	A	11: 103,087,141 (GRCm39)		probably benign	Het
Fn3k	A	G	11: 121,325,894 (GRCm39)	E27G	probably damaging	Het
Foxj2	A	G	6: 122,815,098 (GRCm39)	H378R	probably damaging	Het
Fubp1	A	G	3: 151,938,045 (GRCm39)	K140E	possibly damaging	Het
Gm7694	A	T	1: 170,130,103 (GRCm39)	C98*	probably null	Het
Golgb1	T	C	16: 36,734,340 (GRCm39)	S1196P	probably damaging	Het
Gpm6a	G	A	8: 55,500,431 (GRCm39)		probably null	Het
Hltf	T	A	3: 20,117,993 (GRCm39)	N80K	possibly damaging	Het
Il1rap	G	A	16: 26,514,020 (GRCm39)	R251H	probably benign	Het
Ipo7	T	A	7: 109,648,267 (GRCm39)	D688E	probably benign	Het
Itgal	T	A	7: 126,924,375 (GRCm39)	N897K	probably damaging	Het
Itsn2	A	G	12: 4,674,982 (GRCm39)		probably null	Het
Kcnk13	A	G	12: 99,931,631 (GRCm39)		probably benign	Het
Kdm7a	A	G	6: 39,147,203 (GRCm39)	L248P	probably damaging	Het
Kmt2c	T	C	5: 25,554,872 (GRCm39)	E1254G	possibly damaging	Het
Ldah	G	A	12: 8,325,912 (GRCm39)		probably benign	Het
Lingo1	T	A	9: 56,527,371 (GRCm39)	D406V	possibly damaging	Het
Lratd2	A	G	15: 60,695,650 (GRCm39)	I32T	probably damaging	Het
Lrriq1	A	T	10: 103,051,312 (GRCm39)	V480E	probably benign	Het
Mtcl1	C	T	17: 66,665,129 (GRCm39)	R1142H	probably benign	Het
Mtmr3	G	A	11: 4,447,381 (GRCm39)	Q360*	probably null	Het
Muc6	T	C	7: 141,237,380 (GRCm39)	N252S	probably benign	Het
Naa20	T	C	2: 145,745,240 (GRCm39)	L4P	probably damaging	Het
Neb	T	A	2: 52,112,973 (GRCm39)	I4274L	probably benign	Het
Noa1	A	T	5: 77,457,516 (GRCm39)	F130I	probably benign	Het
Nrg4	G	T	9: 55,143,796 (GRCm39)	H87N	possibly damaging	Het
Or51ai2	T	A	7: 103,586,741 (GRCm39)	H51Q	probably benign	Het
Or5m12	T	A	2: 85,734,849 (GRCm39)	Y183F	probably damaging	Het
P3h3	C	T	6: 124,822,564 (GRCm39)	E536K	probably damaging	Het
Pcdhb11	T	C	18: 37,554,771 (GRCm39)	S34P	probably damaging	Het
Pik3r1	T	C	13: 101,825,914 (GRCm39)	T71A	possibly damaging	Het
Plaur	T	A	7: 24,166,225 (GRCm39)	C99S	possibly damaging	Het
Plekha5	G	A	6: 140,532,162 (GRCm39)	G501E	probably damaging	Het
Plxnd1	C	T	6: 115,954,921 (GRCm39)	V614M	probably benign	Het
Ppp2r3d	T	C	9: 101,025,786 (GRCm39)	D307G	possibly damaging	Het
Prl3d3	C	T	13: 27,341,453 (GRCm39)	S28F	possibly damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Ptk7	C	A	17: 46,883,568 (GRCm39)	Q832H	probably damaging	Het
Qser1	T	C	2: 104,620,435 (GRCm39)	S126G	probably benign	Het
Rab3ip	A	T	10: 116,751,772 (GRCm39)	C332S	probably damaging	Het
Raly	C	A	2: 154,699,286 (GRCm39)	T30K	probably damaging	Het
Rbp2	G	T	9: 98,372,700 (GRCm39)	S13I	probably benign	Het
Rps6ka1	C	T	4: 133,594,535 (GRCm39)	M159I	possibly damaging	Het
Rufy3	C	T	5: 88,732,168 (GRCm39)	T57I	probably benign	Het
Samd4	A	G	14: 47,254,088 (GRCm39)	D184G	probably damaging	Het
Slc35f3	T	C	8: 127,047,833 (GRCm39)	C58R	possibly damaging	Het
Smarca4	T	C	9: 21,611,173 (GRCm39)	I1467T	probably damaging	Het
Spag17	T	G	3: 99,972,901 (GRCm39)	I1371S	probably benign	Het
Sptan1	T	C	2: 29,897,561 (GRCm39)	L1228P	possibly damaging	Het
Stk31	C	T	6: 49,398,631 (GRCm39)	A344V	probably benign	Het
Supt16	A	G	14: 52,408,291 (GRCm39)	W885R	probably damaging	Het
Tdrd9	T	A	12: 111,992,334 (GRCm39)		probably null	Het
Tmod1	A	G	4: 46,078,469 (GRCm39)		probably null	Het
Tnfsf13	A	C	11: 69,575,309 (GRCm39)		probably null	Het
Trim75	C	A	8: 65,436,094 (GRCm39)	E119*	probably null	Het
Wdr6	T	C	9: 108,452,110 (GRCm39)	Y591C	probably damaging	Het
Wdr86	C	T	5: 24,923,281 (GRCm39)	R137H	probably benign	Het
Ythdf1	T	A	2: 180,552,943 (GRCm39)	Y424F	probably damaging	Het
Zfp984	G	T	4: 147,840,643 (GRCm39)	S69R	possibly damaging	Het
Zyg11a	A	G	4: 108,038,991 (GRCm39)	F743L	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
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
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'- GGAGCCCAGAGTCTTAAAGG -3'
(R):5'- AGCCACAGGGACGTTTAAAG -3'

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

Posted On

2018-02-28