Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02858:Exoc3l2'

362031

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Exoc3l2

Ensembl Gene

ENSMUSG00000011263

Gene Name

exocyst complex component 3-like 2

Synonyms

Gm19857, 4933417E01Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.624) question?

Stock #

IGL02858

Quality Score

Status

Chromosome

Chromosomal Location

19197256-19230687 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19229109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 176 (I176V)

Ref Sequence

ENSEMBL: ENSMUSP00000011407 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011407] [ENSMUST00000137613]

AlphaFold

D3YUP5

Predicted Effect

probably benign
Transcript: ENSMUST00000011407
AA Change: I176V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000011407
Gene: ENSMUSG00000011263
AA Change: I176V

Domain	Start	End	E-Value	Type
low complexity region	25	40	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000137613
AA Change: N769S

SMART Domains

Protein: ENSMUSP00000123025
Gene: ENSMUSG00000011263
AA Change: N769S

Domain	Start	End	E-Value	Type
Pfam:Sec6	1	177	7.7e-29	PFAM
low complexity region	186	222	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	G	1: 179,596,599 (GRCm39)	V126A	probably damaging	Het
Akap9	T	C	5: 4,119,130 (GRCm39)	Y3546H	possibly damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Arhgap45	C	A	10: 79,853,768 (GRCm39)	T94N	probably benign	Het
Arid1b	T	C	17: 5,392,166 (GRCm39)	S1899P	possibly damaging	Het
Atad5	T	A	11: 79,980,601 (GRCm39)	V2E	probably damaging	Het
Calr	A	T	8: 85,571,528 (GRCm39)	V155E	probably benign	Het
Cckbr	C	T	7: 105,083,238 (GRCm39)	A147V	probably damaging	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Cetn1	T	C	18: 9,619,422 (GRCm39)		probably benign	Het
Chl1	A	T	6: 103,618,949 (GRCm39)	L6F	probably damaging	Het
Chrnb1	C	T	11: 69,675,935 (GRCm39)	V436I	possibly damaging	Het
Col4a4	T	C	1: 82,506,204 (GRCm39)	E292G	unknown	Het
Ddx56	A	G	11: 6,217,667 (GRCm39)	L18P	probably damaging	Het
Dhx36	A	C	3: 62,384,797 (GRCm39)		probably benign	Het
Dnah5	A	T	15: 28,453,358 (GRCm39)	R4376S	possibly damaging	Het
Dnah6	T	A	6: 73,185,582 (GRCm39)	D113V	probably benign	Het
Dnah7a	A	G	1: 53,512,118 (GRCm39)		probably benign	Het
Dock7	T	A	4: 98,833,442 (GRCm39)	K1920*	probably null	Het
Dysf	A	G	6: 84,076,471 (GRCm39)	D628G	probably benign	Het
Fcrl1	A	G	3: 87,292,012 (GRCm39)	Y57C	probably damaging	Het
Fzd4	C	T	7: 89,057,162 (GRCm39)	T403M	probably damaging	Het
Gpr171	A	T	3: 59,005,288 (GRCm39)	N162K	probably benign	Het
Impdh1	T	A	6: 29,206,924 (GRCm39)	K132*	probably null	Het
Itgb2l	A	T	16: 96,223,850 (GRCm39)	W730R	possibly damaging	Het
Jmjd8	T	C	17: 26,049,134 (GRCm39)	F230S	probably damaging	Het
Krt72	G	A	15: 101,690,556 (GRCm39)	T232M	probably damaging	Het
Lpin3	T	C	2: 160,740,540 (GRCm39)		probably benign	Het
Nup214	A	C	2: 31,900,384 (GRCm39)		probably benign	Het
Or11g7	A	T	14: 50,690,507 (GRCm39)		probably benign	Het
Or7d10	A	G	9: 19,831,747 (GRCm39)	M81V	probably damaging	Het
Or8c20	A	G	9: 38,260,469 (GRCm39)	Q24R	probably benign	Het
Or8g26	A	G	9: 39,095,822 (GRCm39)	Y113C	probably damaging	Het
Pdgfra	T	A	5: 75,355,635 (GRCm39)	S1048R	probably damaging	Het
Sall3	G	T	18: 81,012,728 (GRCm39)	A1236E	probably damaging	Het
Sipa1	T	C	19: 5,705,736 (GRCm39)	T411A	probably damaging	Het
Thsd7a	T	G	6: 12,500,994 (GRCm39)	D471A	probably benign	Het
Tm2d1	T	A	4: 98,263,192 (GRCm39)	E100D	probably damaging	Het
Tmcc1	A	G	6: 116,110,849 (GRCm39)	V148A	probably damaging	Het
Tubgcp6	A	T	15: 88,986,518 (GRCm39)	Y19*	probably null	Het
Ubr3	A	G	2: 69,783,203 (GRCm39)	Y713C	probably damaging	Het
Uevld	A	G	7: 46,605,377 (GRCm39)	V39A	probably benign	Het
Vmn2r28	A	T	7: 5,484,003 (GRCm39)	H732Q	probably damaging	Het
Zfp629	A	T	7: 127,209,484 (GRCm39)	F775Y	probably damaging	Het

Other mutations in Exoc3l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Thumbelina	UTSW	7	19,213,957 (GRCm39)	missense	unknown
R1220:Exoc3l2	UTSW	7	19,225,709 (GRCm39)	splice site	probably benign
R1482:Exoc3l2	UTSW	7	19,229,284 (GRCm39)	missense	probably damaging	0.99
R2109:Exoc3l2	UTSW	7	19,223,059 (GRCm39)	start gained	probably benign
R2117:Exoc3l2	UTSW	7	19,228,907 (GRCm39)	missense	possibly damaging	0.92
R3963:Exoc3l2	UTSW	7	19,229,181 (GRCm39)	missense	probably benign
R4870:Exoc3l2	UTSW	7	19,229,117 (GRCm39)	missense	unknown
R5982:Exoc3l2	UTSW	7	19,213,957 (GRCm39)	missense	unknown
R6151:Exoc3l2	UTSW	7	19,225,670 (GRCm39)	nonsense	probably null
R6351:Exoc3l2	UTSW	7	19,203,633 (GRCm39)	missense	possibly damaging	0.66
R6376:Exoc3l2	UTSW	7	19,203,635 (GRCm39)	missense	possibly damaging	0.90
R7087:Exoc3l2	UTSW	7	19,203,582 (GRCm39)	missense
R7256:Exoc3l2	UTSW	7	19,218,628 (GRCm39)	missense	unknown
R7493:Exoc3l2	UTSW	7	19,203,813 (GRCm39)	missense
R8472:Exoc3l2	UTSW	7	19,215,190 (GRCm39)	nonsense	probably null
R8745:Exoc3l2	UTSW	7	19,215,212 (GRCm39)	missense	unknown
R8897:Exoc3l2	UTSW	7	19,203,931 (GRCm39)	critical splice donor site	probably null
R9058:Exoc3l2	UTSW	7	19,203,821 (GRCm39)	nonsense	probably null
R9773:Exoc3l2	UTSW	7	19,203,697 (GRCm39)	missense
X0064:Exoc3l2	UTSW	7	19,228,897 (GRCm39)	missense	probably benign	0.27
Z1176:Exoc3l2	UTSW	7	19,213,986 (GRCm39)	missense	probably null
Z1177:Exoc3l2	UTSW	7	19,213,953 (GRCm39)	missense	unknown

Posted On

2015-12-18