Mutagenetix > Incidental Mutation

Incidental Mutation 'R0139:Exoc5'

22208

Institutional Source

Beutler Lab

Gene Symbol

Exoc5

Ensembl Gene

ENSMUSG00000061244

Gene Name

exocyst complex component 5

Synonyms

PRO1912, Sec10l1, SEC10

MMRRC Submission

038424-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R0139 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

49249379-49304124 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 49273493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 301 (E301K)

Ref Sequence

ENSEMBL: ENSMUSP00000125434 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161504] [ENSMUST00000162175]

AlphaFold

Q3TPX4

Predicted Effect

probably benign
Transcript: ENSMUST00000160386

SMART Domains

Protein: ENSMUSP00000123825
Gene: ENSMUSG00000061244

Domain	Start	End	E-Value	Type
Pfam:Sec10	2	76	2.4e-18	PFAM
Pfam:Sec10	71	200	2.6e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160723

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161504
AA Change: E236K

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124012
Gene: ENSMUSG00000061244
AA Change: E236K

Domain	Start	End	E-Value	Type
Pfam:Sec10	43	175	9.5e-24	PFAM
Pfam:Sec10	175	642	1.1e-119	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000162175
AA Change: E301K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125434
Gene: ENSMUSG00000061244
AA Change: E301K

Domain	Start	End	E-Value	Type
Pfam:Sec10	89	707	6.6e-154	PFAM

Meta Mutation Damage Score

0.1481

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 91.2%

Validation Efficiency

97% (89/92)

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 component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in all cells die prior to E8.5. Mice homozygous for a conditional allele activated in kidney cells exhibit ureteropelvic junction obstructions leading to neontal death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	C	T	8: 12,329,899 (GRCm39)	S118L	unknown	Het
Adprs	A	G	4: 126,211,947 (GRCm39)	Y122H	probably damaging	Het
Ankrd52	T	C	10: 128,222,007 (GRCm39)	S544P	probably benign	Het
Aopep	A	G	13: 63,338,298 (GRCm39)	N558S	probably benign	Het
Arhgef7	A	G	8: 11,850,503 (GRCm39)	E111G	probably damaging	Het
Atp11a	A	G	8: 12,896,054 (GRCm39)	M755V	probably benign	Het
Atp2a2	A	G	5: 122,629,778 (GRCm39)	I97T	probably damaging	Het
Bmp3	G	A	5: 99,027,768 (GRCm39)	D463N	possibly damaging	Het
Cacna2d4	T	C	6: 119,255,230 (GRCm39)		probably benign	Het
Ccdc28a	G	A	10: 18,106,188 (GRCm39)	S46F	possibly damaging	Het
Ccdc40	G	A	11: 119,155,125 (GRCm39)	G1122S	probably benign	Het
Cenpw	T	G	10: 30,076,455 (GRCm39)	T8P	probably benign	Het
Cfap44	G	C	16: 44,253,785 (GRCm39)	G893R	possibly damaging	Het
Cimap3	A	T	3: 105,906,886 (GRCm39)	M171K	possibly damaging	Het
Cops7a	A	T	6: 124,938,323 (GRCm39)	C110S	probably damaging	Het
Cstl1	A	G	2: 148,597,245 (GRCm39)	N134S	probably damaging	Het
Cyp2s1	G	T	7: 25,511,114 (GRCm39)		probably null	Het
Dio2	T	A	12: 90,696,617 (GRCm39)	N124Y	probably damaging	Het
Ecel1	C	A	1: 87,082,248 (GRCm39)	G155V	possibly damaging	Het
Efr3a	G	T	15: 65,717,830 (GRCm39)	V337F	possibly damaging	Het
Eva1b	A	C	4: 126,043,446 (GRCm39)	H162P	probably damaging	Het
F13b	G	A	1: 139,435,941 (GRCm39)	S249N	probably damaging	Het
Fam120b	C	T	17: 15,646,446 (GRCm39)		probably benign	Het
Gbf1	T	C	19: 46,250,231 (GRCm39)	L396S	probably damaging	Het
Gck	T	A	11: 5,859,139 (GRCm39)	K143*	probably null	Het
Gck	C	A	11: 5,860,370 (GRCm39)	V91L	probably damaging	Het
Glt8d2	T	C	10: 82,496,644 (GRCm39)	N138S	probably damaging	Het
Gm4884	T	C	7: 40,692,387 (GRCm39)	F119L	probably benign	Het
Igsf11	T	C	16: 38,829,240 (GRCm39)	S45P	probably damaging	Het
Iho1	T	C	9: 108,289,695 (GRCm39)	T176A	probably damaging	Het
Il10	G	A	1: 130,950,271 (GRCm39)	V142M	probably damaging	Het
Insc	A	T	7: 114,368,237 (GRCm39)	H9L	probably damaging	Het
Iqsec1	G	T	6: 90,786,740 (GRCm39)		probably benign	Het
Katnb1	A	G	8: 95,825,050 (GRCm39)	S611G	possibly damaging	Het
Kcnb1	A	G	2: 166,947,459 (GRCm39)	I463T	possibly damaging	Het
Lao1	A	G	4: 118,821,399 (GRCm39)	N90S	probably benign	Het
Med16	T	A	10: 79,732,635 (GRCm39)	M710L	probably benign	Het
Mroh2a	G	C	1: 88,185,524 (GRCm39)	E1510D	probably damaging	Het
Mtus1	G	A	8: 41,469,233 (GRCm39)		probably benign	Het
Mybpc3	A	G	2: 90,950,682 (GRCm39)		probably benign	Het
Ndor1	C	T	2: 25,138,366 (GRCm39)	V405M	possibly damaging	Het
Nell2	A	G	15: 95,330,782 (GRCm39)	V213A	probably benign	Het
Nme8	T	C	13: 19,862,018 (GRCm39)	I204V	probably benign	Het
Nup133	A	T	8: 124,656,082 (GRCm39)	N466K	probably benign	Het
Nxt1	A	G	2: 148,517,390 (GRCm39)	T44A	probably benign	Het
Or14c46	T	C	7: 85,918,187 (GRCm39)	E270G	probably benign	Het
Or2ag15	A	T	7: 106,340,832 (GRCm39)	I103N	probably benign	Het
Or2y12	C	T	11: 49,426,401 (GRCm39)	L130F	probably benign	Het
Or4e1	T	C	14: 52,700,669 (GRCm39)	T239A	probably damaging	Het
Or4f7	A	T	2: 111,644,699 (GRCm39)	I124K	possibly damaging	Het
Or7e168	C	T	9: 19,720,165 (GRCm39)	L184F	probably damaging	Het
Pced1a	T	C	2: 130,263,827 (GRCm39)	K275R	probably benign	Het
Pdcd11	A	G	19: 47,099,398 (GRCm39)		probably null	Het
Phldb2	A	C	16: 45,591,029 (GRCm39)		probably benign	Het
Piwil1	C	A	5: 128,824,387 (GRCm39)	S490Y	probably damaging	Het
Plekhh3	T	C	11: 101,054,501 (GRCm39)		probably benign	Het
Ppargc1b	A	T	18: 61,449,034 (GRCm39)		probably benign	Het
Psg19	C	T	7: 18,530,942 (GRCm39)	V71I	possibly damaging	Het
Ptk6	T	C	2: 180,838,724 (GRCm39)		probably benign	Het
Pus7	A	G	5: 23,983,090 (GRCm39)	S126P	probably damaging	Het
Rab6b	T	A	9: 103,017,576 (GRCm39)		probably null	Het
Ranbp3	G	A	17: 57,016,272 (GRCm39)	R347Q	possibly damaging	Het
Sanbr	A	T	11: 23,570,214 (GRCm39)		probably benign	Het
Sbf1	A	T	15: 89,186,701 (GRCm39)	L866Q	probably damaging	Het
Slc25a34	A	G	4: 141,349,663 (GRCm39)	V164A	possibly damaging	Het
Smg1	A	G	7: 117,751,898 (GRCm39)		probably null	Het
Spin1	G	T	13: 51,303,048 (GRCm39)	V214L	probably benign	Het
Spmip2	A	T	3: 79,313,142 (GRCm39)	Y72F	probably damaging	Het
Sptbn1	T	C	11: 30,092,289 (GRCm39)	N492S	probably benign	Het
Stk-ps2	A	G	1: 46,068,955 (GRCm39)		noncoding transcript	Het
Taar7f	T	C	10: 23,926,312 (GRCm39)	I302T	probably benign	Het
Tdrd1	C	A	19: 56,831,630 (GRCm39)	H340Q	probably benign	Het
Thumpd3	A	G	6: 113,044,762 (GRCm39)	D498G	probably benign	Het
Tpgs2	A	G	18: 25,282,242 (GRCm39)	L103P	probably damaging	Het
Trip10	A	G	17: 57,568,633 (GRCm39)		probably null	Het
Trip6	A	T	5: 137,310,436 (GRCm39)	H269Q	probably benign	Het
Trmt12	T	C	15: 58,744,743 (GRCm39)	V47A	possibly damaging	Het
Trpm7	A	T	2: 126,654,691 (GRCm39)	S1416T	probably benign	Het
Tsks	G	A	7: 44,603,883 (GRCm39)	A438T	probably benign	Het
Ttn	T	C	2: 76,727,630 (GRCm39)		probably benign	Het
Twf2	G	A	9: 106,090,155 (GRCm39)	V136M	possibly damaging	Het
Uty	A	C	Y: 1,197,223 (GRCm39)	Y115D	probably damaging	Het
Vcan	A	G	13: 89,839,380 (GRCm39)	S2055P	probably damaging	Het
Yes1	A	G	5: 32,842,039 (GRCm39)	Q521R	possibly damaging	Het
Zfp114	A	T	7: 23,880,685 (GRCm39)	T344S	possibly damaging	Het
Zfp661	A	T	2: 127,420,532 (GRCm39)	V89D	possibly damaging	Het
Zfp91	A	T	19: 12,747,834 (GRCm39)	Y430N	probably damaging	Het

Other mutations in Exoc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01010:Exoc5	APN	14	49,275,212 (GRCm39)	missense	probably damaging	1.00
IGL01473:Exoc5	APN	14	49,251,751 (GRCm39)	missense	possibly damaging	0.83
IGL01599:Exoc5	APN	14	49,272,421 (GRCm39)	missense	probably benign	0.00
IGL01702:Exoc5	APN	14	49,253,072 (GRCm39)	nonsense	probably null
IGL02173:Exoc5	APN	14	49,272,258 (GRCm39)	splice site	probably benign
IGL02211:Exoc5	APN	14	49,251,667 (GRCm39)	missense	probably damaging	1.00
IGL02874:Exoc5	APN	14	49,288,903 (GRCm39)	missense	probably benign	0.02
IGL02968:Exoc5	APN	14	49,270,726 (GRCm39)	critical splice donor site	probably null
IGL03167:Exoc5	APN	14	49,288,802 (GRCm39)	missense	probably damaging	1.00
IGL03207:Exoc5	APN	14	49,270,832 (GRCm39)	missense	probably benign
PIT4260001:Exoc5	UTSW	14	49,286,222 (GRCm39)	missense	probably benign	0.01
R0594:Exoc5	UTSW	14	49,273,544 (GRCm39)	splice site	probably benign
R0945:Exoc5	UTSW	14	49,276,799 (GRCm39)	splice site	probably benign
R1968:Exoc5	UTSW	14	49,272,347 (GRCm39)	missense	probably benign	0.27
R2082:Exoc5	UTSW	14	49,253,044 (GRCm39)	missense	probably benign	0.07
R2186:Exoc5	UTSW	14	49,252,936 (GRCm39)	missense	probably benign	0.08
R2356:Exoc5	UTSW	14	49,253,738 (GRCm39)	missense	probably benign	0.00
R3419:Exoc5	UTSW	14	49,260,735 (GRCm39)	missense	probably damaging	1.00
R3743:Exoc5	UTSW	14	49,270,864 (GRCm39)	nonsense	probably null
R3743:Exoc5	UTSW	14	49,251,806 (GRCm39)	missense	probably benign	0.00
R3870:Exoc5	UTSW	14	49,256,853 (GRCm39)	splice site	probably benign
R4273:Exoc5	UTSW	14	49,252,937 (GRCm39)	nonsense	probably null
R4794:Exoc5	UTSW	14	49,286,357 (GRCm39)	critical splice acceptor site	probably null
R4853:Exoc5	UTSW	14	49,289,826 (GRCm39)	small deletion	probably benign
R4864:Exoc5	UTSW	14	49,289,839 (GRCm39)	missense	probably benign	0.00
R4883:Exoc5	UTSW	14	49,289,821 (GRCm39)	missense	probably damaging	1.00
R5098:Exoc5	UTSW	14	49,286,304 (GRCm39)	missense	possibly damaging	0.90
R5965:Exoc5	UTSW	14	49,272,388 (GRCm39)	missense	probably damaging	1.00
R6036:Exoc5	UTSW	14	49,251,779 (GRCm39)	missense	possibly damaging	0.82
R6036:Exoc5	UTSW	14	49,251,779 (GRCm39)	missense	possibly damaging	0.82
R6820:Exoc5	UTSW	14	49,286,387 (GRCm39)	splice site	probably null
R8473:Exoc5	UTSW	14	49,256,860 (GRCm39)	missense	probably null	0.98
R8987:Exoc5	UTSW	14	49,252,986 (GRCm39)	missense	probably damaging	1.00
R9229:Exoc5	UTSW	14	49,251,710 (GRCm39)	nonsense	probably null
R9250:Exoc5	UTSW	14	49,256,915 (GRCm39)	missense	probably damaging	1.00
R9340:Exoc5	UTSW	14	49,286,297 (GRCm39)	missense	probably damaging	0.98
R9381:Exoc5	UTSW	14	49,275,194 (GRCm39)	missense	probably benign
R9729:Exoc5	UTSW	14	49,253,086 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGAACTTTCTCCCAAAACAAAGTGGC -3'
(R):5'- GGCTTCACAGACAAGAAACATTGTGC -3'

Sequencing Primer
(F):5'- ctcgaactcagaaataactgtcc -3'
(R):5'- CAGACAAGAAACATTGTGCTATTGG -3'

Posted On

2013-04-16