Mutagenetix > Incidental Mutation

Incidental Mutation 'R1828:Exph5'

207026

Institutional Source

Beutler Lab

Gene Symbol

Exph5

Ensembl Gene

ENSMUSG00000034584

Gene Name

exophilin 5

Synonyms

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

MMRRC Submission

039855-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1828 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53212970-53288814 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53287941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1674 (Q1674L)

Ref Sequence

ENSEMBL: ENSMUSP00000062632 (fasta)

Gene Model

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

AlphaFold

Q0VAV2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051014
AA Change: Q1674L

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

SMART Domains

Protein: ENSMUSP00000062632
Gene: ENSMUSG00000034584
AA Change: Q1674L

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

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.0%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130008F23Rik	T	C	17: 41,190,962 (GRCm39)	T156A	probably benign	Het
9230106D20Rik	A	T	10: 19,536,065 (GRCm39)		noncoding transcript	Het
Abca3	A	G	17: 24,585,171 (GRCm39)	D144G	probably benign	Het
Anxa2	T	A	9: 69,390,260 (GRCm39)	L121Q	probably damaging	Het
Anxa7	A	T	14: 20,512,732 (GRCm39)	I267N	probably damaging	Het
Asb14	A	T	14: 26,633,797 (GRCm39)	D334V	possibly damaging	Het
Batf3	A	G	1: 190,830,714 (GRCm39)	N20S	probably benign	Het
Bub1b	A	G	2: 118,468,920 (GRCm39)	H895R	probably benign	Het
C1qtnf12	G	A	4: 156,050,160 (GRCm39)		probably null	Het
Cars1	T	C	7: 143,130,385 (GRCm39)	I294V	probably damaging	Het
Ccdc142	G	A	6: 83,084,462 (GRCm39)	A527T	probably damaging	Het
Ccdc168	A	T	1: 44,096,234 (GRCm39)	N1621K	possibly damaging	Het
Ccdc92	T	C	5: 124,913,242 (GRCm39)	N96D	probably benign	Het
Ceacam18	T	A	7: 43,288,880 (GRCm39)	D210E	probably benign	Het
Cenpe	A	G	3: 134,952,257 (GRCm39)	T1373A	probably damaging	Het
Cfap161	T	G	7: 83,440,932 (GRCm39)		probably null	Het
Cimip4	T	C	15: 78,270,588 (GRCm39)	Y60C	possibly damaging	Het
Cldn19	A	G	4: 119,112,990 (GRCm39)	D74G	probably benign	Het
Clec12a	A	G	6: 129,330,762 (GRCm39)	T115A	probably damaging	Het
Cox7a2l	T	A	17: 83,811,397 (GRCm39)	Q78L	probably benign	Het
Crot	T	C	5: 9,019,080 (GRCm39)	N491S	probably benign	Het
Cspg4b	T	A	13: 113,505,342 (GRCm39)	L2157Q	probably damaging	Het
Ctr9	A	G	7: 110,643,165 (GRCm39)		probably null	Het
Cyp4f14	T	G	17: 33,130,209 (GRCm39)	D190A	probably damaging	Het
D630039A03Rik	C	T	4: 57,910,240 (GRCm39)	V191I	probably benign	Het
Dnah10	A	T	5: 124,838,343 (GRCm39)	N1124I	probably benign	Het
Duox1	T	A	2: 122,177,861 (GRCm39)	Y1548*	probably null	Het
Epdr1	G	A	13: 19,778,773 (GRCm39)	Q6*	probably null	Het
Erbin	A	G	13: 103,996,577 (GRCm39)		probably null	Het
Ero1a	A	T	14: 45,525,217 (GRCm39)	I436K	probably damaging	Het
Fat4	A	T	3: 39,037,607 (GRCm39)	Y3753F	probably damaging	Het
Gaa	T	C	11: 119,174,098 (GRCm39)	V763A	probably damaging	Het
Golim4	G	A	3: 75,809,745 (GRCm39)	T216I	probably damaging	Het
Gpr83	G	T	9: 14,779,629 (GRCm39)	C269F	possibly damaging	Het
Gtf2f2	A	G	14: 76,245,143 (GRCm39)		probably null	Het
Gtf3c5	T	C	2: 28,469,694 (GRCm39)	Y70C	probably damaging	Het
Hao1	T	A	2: 134,372,584 (GRCm39)	R141S	probably benign	Het
Hecw2	T	C	1: 53,965,182 (GRCm39)	D548G	probably benign	Het
Hr	G	A	14: 70,809,477 (GRCm39)		probably null	Het
Hrg	A	C	16: 22,774,853 (GRCm39)	E161A	probably damaging	Het
Hydin	A	T	8: 111,237,526 (GRCm39)	N1933I	probably benign	Het
Itpr2	A	G	6: 146,229,830 (GRCm39)	L1255P	probably damaging	Het
Kcnma1	C	A	14: 23,380,997 (GRCm39)	D903Y	probably damaging	Het
Kif5c	T	C	2: 49,570,252 (GRCm39)		probably null	Het
Mgat5b	C	A	11: 116,868,614 (GRCm39)	H512Q	probably damaging	Het
Mtmr4	T	C	11: 87,502,943 (GRCm39)	V999A	probably benign	Het
Mttp	G	T	3: 137,813,041 (GRCm39)	Q545K	probably damaging	Het
Ncstn	CAGCTCCACGAAG	CAG	1: 171,899,038 (GRCm39)		probably null	Het
Nexn	A	G	3: 151,948,405 (GRCm39)	I386T	probably damaging	Het
Nrip3	A	G	7: 109,365,763 (GRCm39)	S85P	probably benign	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Olr1	T	C	6: 129,465,895 (GRCm39)	N37S	possibly damaging	Het
Or14j5	C	T	17: 38,161,966 (GRCm39)	A161V	probably benign	Het
Or4b1d	A	G	2: 89,968,931 (GRCm39)	L184S	probably damaging	Het
Or4c105	A	T	2: 88,648,402 (GRCm39)	I296F	probably benign	Het
Or55b3	A	G	7: 102,126,720 (GRCm39)	L119P	probably damaging	Het
Or5p80	G	T	7: 108,229,855 (GRCm39)	V219F	possibly damaging	Het
Pax4	T	C	6: 28,443,446 (GRCm39)	Y290C	probably benign	Het
Pcdhb2	T	A	18: 37,429,038 (GRCm39)	V337D	probably damaging	Het
Pglyrp4	T	C	3: 90,640,310 (GRCm39)	Y187H	probably damaging	Het
Pi4ka	A	G	16: 17,098,614 (GRCm39)	M2017T	probably benign	Het
Pkdrej	T	C	15: 85,703,483 (GRCm39)	T818A	possibly damaging	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Pygm	T	C	19: 6,447,637 (GRCm39)	I648T	possibly damaging	Het
Rab4a	A	T	8: 124,550,565 (GRCm39)	K15I	probably damaging	Het
Rasa3	T	C	8: 13,635,035 (GRCm39)	E428G	probably benign	Het
Rnf182	G	A	13: 43,822,010 (GRCm39)	W187*	probably null	Het
Rpl3	C	T	15: 79,964,591 (GRCm39)	V222M	possibly damaging	Het
Rtl9	C	T	X: 141,886,011 (GRCm39)	S1141F	possibly damaging	Het
S100a11	A	T	3: 93,433,428 (GRCm39)	I91F	probably benign	Het
Sfswap	C	T	5: 129,590,148 (GRCm39)	T215I	probably damaging	Het
Slit2	A	G	5: 48,461,372 (GRCm39)	D1456G	probably damaging	Het
Tex19.2	C	T	11: 121,008,317 (GRCm39)	V44I	probably benign	Het
Tmem127	G	A	2: 127,098,094 (GRCm39)		probably null	Het
Tpd52	G	T	3: 9,012,579 (GRCm39)	N59K	probably damaging	Het
Trpc3	G	A	3: 36,692,695 (GRCm39)	P766S	possibly damaging	Het
Usp17la	T	A	7: 104,510,331 (GRCm39)	V312D	probably damaging	Het
Xirp2	A	G	2: 67,345,582 (GRCm39)	N2608D	possibly damaging	Het
Zfp764l1	T	A	7: 126,991,081 (GRCm39)	H302L	probably damaging	Het
Zscan25	C	A	5: 145,227,858 (GRCm39)	H507Q	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
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'- CCCAAAGTGAAAGCGAATCTGG -3'
(R):5'- AGATTTCTGAGTAGGCTCTAAGGG -3'

Sequencing Primer
(F):5'- TCTCTCTTTATAGGCCAGAGGACAAC -3'
(R):5'- TTTCTGAGTAGGCTCTAAGGGGAAAG -3'

Posted On

2014-06-23