Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02622:Unc13a'

300930

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Unc13a

Ensembl Gene

ENSMUSG00000034799

Gene Name

unc-13 homolog A (C. elegans)

Synonyms

2410078G03Rik, Munc13-1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02622

Quality Score

Status

Chromosome

Chromosomal Location

71624417-71671757 bp(-) (GRCm38)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 71652514 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135189 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030170] [ENSMUST00000030170] [ENSMUST00000030170] [ENSMUST00000177517] [ENSMUST00000177517] [ENSMUST00000177517]

Predicted Effect

probably null
Transcript: ENSMUST00000030170

SMART Domains

Protein: ENSMUSP00000030170
Gene: ENSMUSG00000034799

Domain	Start	End	E-Value	Type
C2	3	94	5.23e-10	SMART
low complexity region	187	202	N/A	INTRINSIC
low complexity region	264	277	N/A	INTRINSIC
low complexity region	299	310	N/A	INTRINSIC
coiled coil region	321	359	N/A	INTRINSIC
low complexity region	412	430	N/A	INTRINSIC
low complexity region	435	450	N/A	INTRINSIC
PDB:2KDU\|B	454	488	3e-16	PDB
C1	563	612	3.93e-18	SMART
C2	686	793	5.86e-22	SMART
DUF1041	1002	1111	1.6e-56	SMART
Pfam:Membr_traf_MHD	1355	1520	6.3e-53	PFAM
C2	1555	1661	5.03e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000030170

SMART Domains

Protein: ENSMUSP00000030170
Gene: ENSMUSG00000034799

Domain	Start	End	E-Value	Type
C2	3	94	5.23e-10	SMART
low complexity region	187	202	N/A	INTRINSIC
low complexity region	264	277	N/A	INTRINSIC
low complexity region	299	310	N/A	INTRINSIC
coiled coil region	321	359	N/A	INTRINSIC
low complexity region	412	430	N/A	INTRINSIC
low complexity region	435	450	N/A	INTRINSIC
PDB:2KDU\|B	454	488	3e-16	PDB
C1	563	612	3.93e-18	SMART
C2	686	793	5.86e-22	SMART
DUF1041	1002	1111	1.6e-56	SMART
Pfam:Membr_traf_MHD	1355	1520	6.3e-53	PFAM
C2	1555	1661	5.03e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000030170

SMART Domains

Protein: ENSMUSP00000030170
Gene: ENSMUSG00000034799

Domain	Start	End	E-Value	Type
C2	3	94	5.23e-10	SMART
low complexity region	187	202	N/A	INTRINSIC
low complexity region	264	277	N/A	INTRINSIC
low complexity region	299	310	N/A	INTRINSIC
coiled coil region	321	359	N/A	INTRINSIC
low complexity region	412	430	N/A	INTRINSIC
low complexity region	435	450	N/A	INTRINSIC
PDB:2KDU\|B	454	488	3e-16	PDB
C1	563	612	3.93e-18	SMART
C2	686	793	5.86e-22	SMART
DUF1041	1002	1111	1.6e-56	SMART
Pfam:Membr_traf_MHD	1355	1520	6.3e-53	PFAM
C2	1555	1661	5.03e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000176426

Predicted Effect

probably null
Transcript: ENSMUST00000177517

SMART Domains

Protein: ENSMUSP00000135189
Gene: ENSMUSG00000034799

Domain	Start	End	E-Value	Type
C2	3	94	5.23e-10	SMART
low complexity region	187	202	N/A	INTRINSIC
low complexity region	264	277	N/A	INTRINSIC
low complexity region	299	310	N/A	INTRINSIC
coiled coil region	321	359	N/A	INTRINSIC
low complexity region	412	430	N/A	INTRINSIC
low complexity region	435	450	N/A	INTRINSIC
PDB:2KDU\|B	454	488	3e-16	PDB
C1	563	612	3.93e-18	SMART
C2	686	793	5.86e-22	SMART
DUF1041	1002	1111	1.6e-56	SMART
Pfam:Membr_traf_MHD	1355	1520	6.7e-53	PFAM
C2	1574	1680	5.03e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000177517

SMART Domains

Protein: ENSMUSP00000135189
Gene: ENSMUSG00000034799

Domain	Start	End	E-Value	Type
C2	3	94	5.23e-10	SMART
low complexity region	187	202	N/A	INTRINSIC
low complexity region	264	277	N/A	INTRINSIC
low complexity region	299	310	N/A	INTRINSIC
coiled coil region	321	359	N/A	INTRINSIC
low complexity region	412	430	N/A	INTRINSIC
low complexity region	435	450	N/A	INTRINSIC
PDB:2KDU\|B	454	488	3e-16	PDB
C1	563	612	3.93e-18	SMART
C2	686	793	5.86e-22	SMART
DUF1041	1002	1111	1.6e-56	SMART
Pfam:Membr_traf_MHD	1355	1520	6.7e-53	PFAM
C2	1574	1680	5.03e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000177517

SMART Domains

Protein: ENSMUSP00000135189
Gene: ENSMUSG00000034799

Domain	Start	End	E-Value	Type
C2	3	94	5.23e-10	SMART
low complexity region	187	202	N/A	INTRINSIC
low complexity region	264	277	N/A	INTRINSIC
low complexity region	299	310	N/A	INTRINSIC
coiled coil region	321	359	N/A	INTRINSIC
low complexity region	412	430	N/A	INTRINSIC
low complexity region	435	450	N/A	INTRINSIC
PDB:2KDU\|B	454	488	3e-16	PDB
C1	563	612	3.93e-18	SMART
C2	686	793	5.86e-22	SMART
DUF1041	1002	1111	1.6e-56	SMART
Pfam:Membr_traf_MHD	1355	1520	6.7e-53	PFAM
C2	1574	1680	5.03e-12	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the UNC13 family. UNC13 proteins bind to phorbol esters and diacylglycerol and play important roles in neurotransmitter release at synapses. Single nucleotide polymorphisms in this gene may be associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous mutant mice do not feed and die within hours of birth and synaptic vesicle maturation is impaired. Mice homozygous for a knock-in allele exhibit slower rate of synaptic vesicle replenishment, aberrant short-term depression and reduced recoveryfrom synaptic depression. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	C	T	5: 109,739,235	V32M	possibly damaging	Het
Abca1	T	C	4: 53,034,046	D2228G	probably damaging	Het
Actr5	A	G	2: 158,638,808	K582R	probably benign	Het
Armc8	T	C	9: 99,527,069		probably benign	Het
Atp7b	T	C	8: 22,028,438	D128G	possibly damaging	Het
Cemip	C	A	7: 83,964,175	G605V	probably damaging	Het
Cep112	A	G	11: 108,518,683	H133R	probably benign	Het
Cops3	C	T	11: 59,833,038	D98N	probably benign	Het
Crlf3	T	C	11: 80,059,324	D160G	probably damaging	Het
Csn1s1	T	C	5: 87,677,642		probably null	Het
Ddx60	C	A	8: 61,942,436		probably null	Het
Depdc1a	T	A	3: 159,515,510	N159K	probably benign	Het
Dsg3	A	T	18: 20,528,947		probably benign	Het
Eif4g3	A	C	4: 138,097,366		probably benign	Het
Ercc6l2	T	A	13: 63,853,623		probably null	Het
Fbxw19	T	A	9: 109,493,534	M123L	probably benign	Het
Fus	T	A	7: 127,985,622	L100H	probably damaging	Het
Gm29247	A	G	1: 44,107,109		probably benign	Het
Gucy2e	T	C	11: 69,225,031	T842A	probably damaging	Het
Inpp4a	A	T	1: 37,379,034	Q519L	probably benign	Het
Kcnip1	C	A	11: 33,643,290		probably benign	Het
Lyst	T	A	13: 13,681,390	L2432H	probably damaging	Het
Mastl	A	G	2: 23,132,845	V622A	probably benign	Het
Myh15	A	G	16: 49,176,954	T1712A	probably benign	Het
Nlrp1a	T	C	11: 71,123,000	T475A	possibly damaging	Het
Nr4a3	G	A	4: 48,051,649	M134I	probably benign	Het
Olfr444	T	G	6: 42,955,729	V77G	probably damaging	Het
Olfr484	T	A	7: 108,124,388	I292F	probably damaging	Het
Olfr554	T	A	7: 102,641,083	L279Q	probably damaging	Het
Paqr6	T	G	3: 88,365,778	I52S	probably damaging	Het
Pcdhb4	T	A	18: 37,309,668	L677Q	probably benign	Het
Phax	C	T	18: 56,584,300	R250*	probably null	Het
Pkn3	A	G	2: 30,083,146	D356G	probably benign	Het
Pnpla2	T	C	7: 141,455,372	L29P	probably damaging	Het
Rad18	G	A	6: 112,687,987	T62I	probably damaging	Het
Riok3	C	T	18: 12,142,960	R238C	probably benign	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Sccpdh	G	T	1: 179,676,460	G125W	probably damaging	Het
Skint11	T	A	4: 114,194,728	L91H	probably damaging	Het
Slc25a45	A	G	19: 5,878,697		probably benign	Het
Slco2a1	C	T	9: 103,076,929	Q370*	probably null	Het
Szt2	A	G	4: 118,392,890	S474P	probably damaging	Het
Tchh	C	A	3: 93,443,412	T53K	probably damaging	Het
Tiam1	T	C	16: 89,798,700	T1298A	possibly damaging	Het
Tmem161a	C	T	8: 70,181,237	Q183*	probably null	Het
Trim26	C	A	17: 36,850,905	A72E	probably damaging	Het
Trmt11	A	T	10: 30,559,173	I330K	probably benign	Het
Tspan1	A	G	4: 116,163,855		probably benign	Het
Ubr4	C	A	4: 139,467,250	C4286*	probably null	Het
Vmn1r20	T	A	6: 57,432,598	F303Y	probably damaging	Het
Washc2	T	C	6: 116,214,018		probably benign	Het
Xab2	C	T	8: 3,611,699	D585N	probably benign	Het
Ythdc2	C	T	18: 44,859,934	L791F	probably damaging	Het
Zfp319	C	A	8: 95,328,961	V205F	probably damaging	Het
Zscan25	A	T	5: 145,290,702	H392L	probably damaging	Het
Zswim6	A	T	13: 107,748,251		noncoding transcript	Het

Other mutations in Unc13a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00656:Unc13a	APN	8	71643147	missense	probably null	0.70
IGL01023:Unc13a	APN	8	71661825	missense	probably benign	0.02
IGL01456:Unc13a	APN	8	71644567	missense	probably damaging	1.00
IGL01820:Unc13a	APN	8	71654947	missense	probably damaging	0.99
IGL01909:Unc13a	APN	8	71639210	splice site	probably benign
IGL01925:Unc13a	APN	8	71634543	missense	possibly damaging	0.95
IGL02407:Unc13a	APN	8	71648942	missense	probably damaging	0.99
IGL02634:Unc13a	APN	8	71655701	missense	probably benign	0.03
IGL02724:Unc13a	APN	8	71656305	splice site	probably benign
IGL02892:Unc13a	APN	8	71649910	missense	probably damaging	1.00
IGL02948:Unc13a	APN	8	71650549	missense	possibly damaging	0.63
IGL03081:Unc13a	APN	8	71649549	missense	probably damaging	0.98
IGL03372:Unc13a	APN	8	71655709	missense	probably damaging	1.00
curvy	UTSW	8	71630504	splice site	probably null
Greed	UTSW	8	71654845	missense	probably damaging	1.00
largesse	UTSW	8	71634658	missense	probably damaging	1.00
serpiginous	UTSW	8	71664245	missense	probably damaging	1.00
PIT4469001:Unc13a	UTSW	8	71658314	nonsense	probably null
R0067:Unc13a	UTSW	8	71634658	missense	probably damaging	1.00
R0067:Unc13a	UTSW	8	71634658	missense	probably damaging	1.00
R0389:Unc13a	UTSW	8	71658032	missense	probably benign	0.01
R0457:Unc13a	UTSW	8	71658001	critical splice donor site	probably null
R0478:Unc13a	UTSW	8	71651148	missense	possibly damaging	0.92
R0483:Unc13a	UTSW	8	71644913	missense	probably damaging	0.96
R0609:Unc13a	UTSW	8	71658467	missense	probably damaging	0.96
R0611:Unc13a	UTSW	8	71649865	missense	probably damaging	1.00
R0730:Unc13a	UTSW	8	71656285	missense	possibly damaging	0.68
R0883:Unc13a	UTSW	8	71642173	nonsense	probably null
R1162:Unc13a	UTSW	8	71647917	missense	probably benign	0.31
R1185:Unc13a	UTSW	8	71661833	missense	probably benign	0.13
R1185:Unc13a	UTSW	8	71661833	missense	probably benign	0.13
R1185:Unc13a	UTSW	8	71661833	missense	probably benign	0.13
R1196:Unc13a	UTSW	8	71654986	missense	probably damaging	1.00
R1400:Unc13a	UTSW	8	71651221	missense	probably damaging	1.00
R1446:Unc13a	UTSW	8	71648981	missense	possibly damaging	0.91
R1507:Unc13a	UTSW	8	71658266	missense	probably benign
R1636:Unc13a	UTSW	8	71653390	missense	probably damaging	1.00
R1858:Unc13a	UTSW	8	71652399	missense	probably damaging	1.00
R2025:Unc13a	UTSW	8	71639768	missense	possibly damaging	0.92
R2107:Unc13a	UTSW	8	71656251	splice site	probably null
R2286:Unc13a	UTSW	8	71630559	missense	probably damaging	1.00
R2334:Unc13a	UTSW	8	71634558	missense	probably damaging	1.00
R2924:Unc13a	UTSW	8	71644952	missense	possibly damaging	0.88
R3177:Unc13a	UTSW	8	71629695	missense	probably benign	0.01
R3277:Unc13a	UTSW	8	71629695	missense	probably benign	0.01
R4175:Unc13a	UTSW	8	71667724	intron	probably benign
R4279:Unc13a	UTSW	8	71666667	missense	probably damaging	0.98
R4629:Unc13a	UTSW	8	71653453	missense	possibly damaging	0.65
R4803:Unc13a	UTSW	8	71662850	splice site	probably null
R4877:Unc13a	UTSW	8	71658616	missense	possibly damaging	0.85
R4927:Unc13a	UTSW	8	71654845	missense	probably damaging	1.00
R4930:Unc13a	UTSW	8	71630504	splice site	probably null
R4994:Unc13a	UTSW	8	71643172	missense	probably benign	0.28
R5011:Unc13a	UTSW	8	71641477	nonsense	probably null
R5252:Unc13a	UTSW	8	71652564	missense	probably damaging	1.00
R5356:Unc13a	UTSW	8	71662514	missense	probably benign	0.02
R5458:Unc13a	UTSW	8	71664245	missense	probably damaging	1.00
R5514:Unc13a	UTSW	8	71643151	missense	probably damaging	1.00
R5784:Unc13a	UTSW	8	71655666	missense	possibly damaging	0.61
R5853:Unc13a	UTSW	8	71655129	splice site	probably null
R6183:Unc13a	UTSW	8	71644666	missense	probably damaging	1.00
R6277:Unc13a	UTSW	8	71666639	critical splice donor site	probably null
R6374:Unc13a	UTSW	8	71641453	missense	possibly damaging	0.70
R6392:Unc13a	UTSW	8	71637809	missense	possibly damaging	0.83
R6515:Unc13a	UTSW	8	71647940	missense	probably benign	0.44
R6576:Unc13a	UTSW	8	71653478	missense	probably benign	0.00
R6943:Unc13a	UTSW	8	71652377	missense	probably damaging	1.00
R7045:Unc13a	UTSW	8	71658763	missense	possibly damaging	0.95
R7062:Unc13a	UTSW	8	71663237	missense	probably benign	0.00
R7146:Unc13a	UTSW	8	71630553	missense	probably damaging	1.00
R7260:Unc13a	UTSW	8	71660585	missense	possibly damaging	0.71
R7443:Unc13a	UTSW	8	71630959	missense	probably damaging	0.98
R7545:Unc13a	UTSW	8	71641509	critical splice acceptor site	probably null
R7644:Unc13a	UTSW	8	71634538	missense	probably benign	0.13
R7780:Unc13a	UTSW	8	71658335	missense	probably benign	0.02
R7952:Unc13a	UTSW	8	71658487	missense	possibly damaging	0.71
R7989:Unc13a	UTSW	8	71652273	missense	probably damaging	1.00
R8169:Unc13a	UTSW	8	71656289	missense	probably damaging	1.00
R8503:Unc13a	UTSW	8	71645761	missense	possibly damaging	0.67
R8504:Unc13a	UTSW	8	71645761	missense	possibly damaging	0.67
Z1088:Unc13a	UTSW	8	71654803	critical splice donor site	probably null
Z1177:Unc13a	UTSW	8	71644872	critical splice donor site	probably null

Posted On

2015-04-16