Mutagenetix > Incidental Mutations

Incidental Mutation 'R7643:Exoc3l4'

590371

Institutional Source

Beutler Lab

Gene Symbol

Exoc3l4

Ensembl Gene

ENSMUSG00000021280

Gene Name

exocyst complex component 3-like 4

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R7643 (G1)

Quality Score

117.008

Status

Validated

Chromosome

Chromosomal Location

111417017-111431678 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 111421935 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072646] [ENSMUST00000220537] [ENSMUST00000220852] [ENSMUST00000221144] [ENSMUST00000222437] [ENSMUST00000222897] [ENSMUST00000223050] [ENSMUST00000223431]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000072646

SMART Domains

Protein: ENSMUSP00000072438
Gene: ENSMUSG00000021280

Domain	Start	End	E-Value	Type
low complexity region	75	89	N/A	INTRINSIC
Pfam:Sec6	181	708	7.1e-111	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000220537

Predicted Effect

probably benign
Transcript: ENSMUST00000220852

Predicted Effect

probably benign
Transcript: ENSMUST00000221144

Predicted Effect

probably benign
Transcript: ENSMUST00000222437

Predicted Effect

probably benign
Transcript: ENSMUST00000222897

Predicted Effect

probably benign
Transcript: ENSMUST00000223050

Predicted Effect

probably benign
Transcript: ENSMUST00000223431

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	A	G	16: 38,827,863	Y295H	probably benign	Het
4931406C07Rik	A	G	9: 15,297,860	F46S	probably damaging	Het
Acaca	T	C	11: 84,338,356	Y1670H	probably damaging	Het
Acrbp	G	A	6: 125,053,832	R272Q	possibly damaging	Het
Adcy6	T	A	15: 98,593,568	Q1050L	probably benign	Het
Amn1	C	T	6: 149,185,031	M44I	probably benign	Het
Ankrd13b	A	G	11: 77,473,085	V395A	probably benign	Het
Ap3b2	T	C	7: 81,477,072	K310R	probably benign	Het
Bnc2	T	C	4: 84,506,574	D123G	probably benign	Het
Bst1	G	A	5: 43,840,449	M263I	probably benign	Het
Ccdc7a	C	T	8: 128,889,811	G937E	probably damaging	Het
Cep290	A	G	10: 100,537,553	M1232V	probably benign	Het
Cfhr1	A	G	1: 139,553,585	Y186H	possibly damaging	Het
Dnah7c	A	T	1: 46,602,813	H1203L	probably benign	Het
Emc7	A	G	2: 112,455,279	E71G	probably benign	Het
Fam83c	A	G	2: 155,831,004	F278L	possibly damaging	Het
Gabpb2	C	A	3: 95,200,225	V180L	probably benign	Het
Gbp2b	G	T	3: 142,603,609	Q160H	probably benign	Het
Gm19965	C	G	1: 116,822,229	Q547E	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gon4l	T	A	3: 88,902,807	D1774E	probably damaging	Het
Gpr15	A	C	16: 58,717,816	Y303*	probably null	Het
Greb1	T	C	12: 16,711,996	D461G	probably damaging	Het
Gria4	T	C	9: 4,793,950	N36S	probably benign	Het
Hacd1	T	C	2: 14,044,791	I119V	probably damaging	Het
Ing5	T	A	1: 93,812,433	D101E	probably damaging	Het
Irak4	T	A	15: 94,558,828	N297K	probably benign	Het
Itga7	A	G	10: 128,953,501	D971G	probably benign	Het
Klf5	A	G	14: 99,313,178	E397G	possibly damaging	Het
Krtap29-1	C	T	11: 99,978,198	G286S	probably damaging	Het
Lrp2bp	A	T	8: 46,020,527		probably null	Het
March4	T	G	1: 72,447,220	Q266H	probably damaging	Het
Med23	A	G	10: 24,905,965	T1056A	probably benign	Het
Megf11	T	C	9: 64,706,632	L1079P	probably damaging	Het
Mycbp2	G	T	14: 103,346,265	L85I	probably benign	Het
Nlgn2	G	T	11: 69,827,885	Q290K	probably damaging	Het
Nox4	A	T	7: 87,323,754	E323V	probably damaging	Het
Nup93	T	C	8: 94,286,619		probably null	Het
Olfr298	C	T	7: 86,489,568		probably null	Het
Olfr558	C	T	7: 102,709,538	T93I	probably benign	Het
Olfr977-ps1	T	A	9: 39,974,821	M1L	unknown	Het
Otop3	T	C	11: 115,339,648	L117P	probably damaging	Het
Pde6c	C	A	19: 38,141,421	Q260K	probably damaging	Het
Plb1	C	T	5: 32,247,557	Q20*	probably null	Het
Qser1	A	T	2: 104,786,977	Y1163*	probably null	Het
Rbm12	A	T	2: 156,098,217	I45N	unknown	Het
Rictor	T	A	15: 6,769,269	Y332*	probably null	Het
Rpp14	C	A	14: 8,090,325	S83*	probably null	Het
Sel1l3	C	T	5: 53,123,162		probably null	Het
Setd2	T	C	9: 110,567,840		probably null	Het
Spink5	A	G	18: 44,010,252	T759A	probably benign	Het
Spon2	T	A	5: 33,217,456	E2V	probably benign	Het
Tdrd1	T	C	19: 56,837,708	S144P	probably damaging	Het
Tex15	A	C	8: 33,575,120	Y1526S	probably damaging	Het
Tnfrsf21	T	C	17: 43,037,916	S140P	probably benign	Het
Trav6-2	T	A	14: 52,667,442	M11K	probably benign	Het
Trp53bp1	G	T	2: 121,247,814		probably null	Het
Ttn	T	C	2: 76,734,827	N28352S	possibly damaging	Het
Uckl1	T	C	2: 181,573,106	I292V	probably benign	Het
Unc13b	T	A	4: 43,216,333	S211T	probably benign	Het
Zcchc4	T	C	5: 52,808,293	I313T	possibly damaging	Het
Zfp106	C	T	2: 120,512,734	R1811K	probably benign	Het
Zfp599	G	T	9: 22,249,892	Q326K	probably benign	Het
Zscan4e	A	T	7: 11,309,525	M108K	probably damaging	Het

Other mutations in Exoc3l4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01663:Exoc3l4	APN	12	111429411	splice site	probably benign
IGL02048:Exoc3l4	APN	12	111428483	missense	probably benign	0.00
IGL03049:Exoc3l4	APN	12	111423401	missense	probably damaging	0.96
IGL03069:Exoc3l4	APN	12	111424023	missense	probably damaging	1.00
IGL03123:Exoc3l4	APN	12	111422113	missense	probably damaging	1.00
R0631:Exoc3l4	UTSW	12	111427966	missense	probably benign	0.34
R1377:Exoc3l4	UTSW	12	111428670	missense	probably damaging	1.00
R2223:Exoc3l4	UTSW	12	111426152	missense	possibly damaging	0.73
R2402:Exoc3l4	UTSW	12	111422256	missense	possibly damaging	0.94
R2884:Exoc3l4	UTSW	12	111428522	missense	possibly damaging	0.93
R3770:Exoc3l4	UTSW	12	111425555	missense	probably benign
R4843:Exoc3l4	UTSW	12	111428053	intron	probably benign
R4903:Exoc3l4	UTSW	12	111428721	missense	probably benign	0.00
R4964:Exoc3l4	UTSW	12	111428721	missense	probably benign	0.00
R4966:Exoc3l4	UTSW	12	111428721	missense	probably benign	0.00
R5082:Exoc3l4	UTSW	12	111427990	missense	probably benign	0.04
R5152:Exoc3l4	UTSW	12	111430893	utr 3 prime	probably benign
R5210:Exoc3l4	UTSW	12	111428841	intron	probably benign
R5667:Exoc3l4	UTSW	12	111423417	missense	probably damaging	1.00
R5671:Exoc3l4	UTSW	12	111423417	missense	probably damaging	1.00
R5712:Exoc3l4	UTSW	12	111424042	nonsense	probably null
R5873:Exoc3l4	UTSW	12	111423416	missense	probably damaging	1.00
R5947:Exoc3l4	UTSW	12	111422401	missense	possibly damaging	0.94
R6299:Exoc3l4	UTSW	12	111422079	start codon destroyed	possibly damaging	0.59
R6332:Exoc3l4	UTSW	12	111427968	missense	possibly damaging	0.79
R6489:Exoc3l4	UTSW	12	111428697	missense	probably damaging	1.00
R7225:Exoc3l4	UTSW	12	111423624	missense	probably benign	0.10
R7731:Exoc3l4	UTSW	12	111430748	missense	possibly damaging	0.94
R7791:Exoc3l4	UTSW	12	111423540	missense	probably damaging	1.00
R8723:Exoc3l4	UTSW	12	111430658	splice site	probably benign
R8942:Exoc3l4	UTSW	12	111425568	missense	possibly damaging	0.53
R8942:Exoc3l4	UTSW	12	111425569	missense	probably benign	0.17
R9145:Exoc3l4	UTSW	12	111422152	missense	probably benign
R9334:Exoc3l4	UTSW	12	111430683	missense	probably damaging	0.99
Z1088:Exoc3l4	UTSW	12	111429487	missense	probably benign	0.29
Z1176:Exoc3l4	UTSW	12	111423720	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTTCCCAGAATAAGCAAGCTC -3'
(R):5'- GTCTGTGACTTCCTAGGCTC -3'

Sequencing Primer
(F):5'- GCAAGCTCAATACTCCTTTGAG -3'
(R):5'- TTTACCTCTGGCCCAGGG -3'

Posted On

2019-10-24