Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03081:Unc13a'

417878

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Unc13a

Ensembl Gene

ENSMUSG00000034799

Gene Name

unc-13 homolog A

Synonyms

Munc13-1, 2410078G03Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03081

Quality Score

Status

Chromosome

Chromosomal Location

72079356-72124418 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72102193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 991 (K991R)

Ref Sequence

ENSEMBL: ENSMUSP00000030170 (fasta)

Gene Model

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

AlphaFold

Q4KUS2

Predicted Effect

probably damaging
Transcript: ENSMUST00000030170
AA Change: K991R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030170
Gene: ENSMUSG00000034799
AA Change: K991R

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 benign
Transcript: ENSMUST00000176127

Predicted Effect

probably benign
Transcript: ENSMUST00000176426

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177517
AA Change: K991R

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135189
Gene: ENSMUSG00000034799
AA Change: K991R

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	C	A	19: 43,770,841 (GRCm39)		probably benign	Het
Acan	T	G	7: 78,748,291 (GRCm39)	S1021A	probably benign	Het
Adamts6	A	G	13: 104,581,464 (GRCm39)		probably benign	Het
Apc2	A	G	10: 80,148,086 (GRCm39)	K1018E	probably damaging	Het
Arhgef28	A	T	13: 98,165,881 (GRCm39)		probably benign	Het
Atp2b1	T	C	10: 98,830,675 (GRCm39)		probably benign	Het
Cct6b	A	T	11: 82,654,995 (GRCm39)	L20*	probably null	Het
Cd300ld2	G	A	11: 114,903,368 (GRCm39)		probably benign	Het
Cdc23	T	G	18: 34,769,757 (GRCm39)	K454T	probably damaging	Het
Cdh20	A	T	1: 104,868,982 (GRCm39)	I158F	probably damaging	Het
Cdk14	C	T	5: 4,999,527 (GRCm39)		probably benign	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Clec2i	A	T	6: 128,871,728 (GRCm39)	Y113F	probably damaging	Het
Dmpk	T	A	7: 18,821,458 (GRCm39)	S239T	probably damaging	Het
Dnah8	T	C	17: 30,905,347 (GRCm39)		probably benign	Het
Exoc2	A	G	13: 31,084,885 (GRCm39)	Y359H	probably benign	Het
Eya1	A	T	1: 14,253,415 (GRCm39)	F520L	possibly damaging	Het
Fgfr1op2	A	T	6: 146,498,817 (GRCm39)	I217F	probably damaging	Het
Gm12258	A	G	11: 58,749,085 (GRCm39)	N87D	probably benign	Het
Gp6	A	G	7: 4,374,647 (GRCm39)	S225P	probably benign	Het
Hdac7	T	C	15: 97,696,187 (GRCm39)	Y619C	probably damaging	Het
Lars1	A	G	18: 42,343,156 (GRCm39)	I1087T	probably benign	Het
Lrrc37a	G	T	11: 103,347,421 (GRCm39)	H3091Q	unknown	Het
Mcm3ap	T	C	10: 76,306,150 (GRCm39)	S88P	possibly damaging	Het
Mrps23	G	A	11: 88,101,043 (GRCm39)	R117Q	probably benign	Het
Nbea	T	C	3: 55,987,339 (GRCm39)	S384G	probably damaging	Het
Ndufs4	A	T	13: 114,444,373 (GRCm39)	I135N	possibly damaging	Het
Noto	T	C	6: 85,401,091 (GRCm39)	F40S	probably damaging	Het
Nr5a1	A	T	2: 38,600,544 (GRCm39)	V41D	possibly damaging	Het
Or8b50	C	T	9: 38,518,166 (GRCm39)	A135V	probably benign	Het
Papola	T	A	12: 105,785,114 (GRCm39)	H415Q	probably damaging	Het
Pcm1	C	T	8: 41,728,097 (GRCm39)	T557I	probably damaging	Het
Pde11a	A	T	2: 75,906,274 (GRCm39)		probably benign	Het
Pls1	A	G	9: 95,655,696 (GRCm39)	V352A	probably damaging	Het
Pygm	T	C	19: 6,438,851 (GRCm39)	S226P	possibly damaging	Het
Rnf17	T	A	14: 56,671,828 (GRCm39)	S273R	probably benign	Het
Scamp2	T	C	9: 57,494,410 (GRCm39)	V261A	possibly damaging	Het
Slc7a12	T	A	3: 14,546,315 (GRCm39)	F153L	probably benign	Het
Smchd1	A	T	17: 71,667,186 (GRCm39)	D1735E	probably damaging	Het
Stk40	A	G	4: 126,017,507 (GRCm39)		probably null	Het
Tas2r124	C	T	6: 132,732,497 (GRCm39)	L269F	possibly damaging	Het
Tmem260	A	C	14: 48,733,750 (GRCm39)	I216L	probably benign	Het
Ubr1	C	A	2: 120,791,637 (GRCm39)	A116S	possibly damaging	Het
Vmn2r66	T	C	7: 84,657,138 (GRCm39)	Y89C	probably benign	Het
Vps13b	A	C	15: 35,875,966 (GRCm39)	I2784L	probably damaging	Het
Zbtb26	T	A	2: 37,326,612 (GRCm39)	K141N	possibly damaging	Het
Zranb1	T	A	7: 132,552,126 (GRCm39)	M259K	probably damaging	Het

Other mutations in Unc13a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00656:Unc13a	APN	8	72,095,791 (GRCm39)	missense	probably null	0.70
IGL01023:Unc13a	APN	8	72,114,469 (GRCm39)	missense	probably benign	0.02
IGL01456:Unc13a	APN	8	72,097,211 (GRCm39)	missense	probably damaging	1.00
IGL01820:Unc13a	APN	8	72,107,591 (GRCm39)	missense	probably damaging	0.99
IGL01909:Unc13a	APN	8	72,091,854 (GRCm39)	splice site	probably benign
IGL01925:Unc13a	APN	8	72,087,187 (GRCm39)	missense	possibly damaging	0.95
IGL02407:Unc13a	APN	8	72,101,586 (GRCm39)	missense	probably damaging	0.99
IGL02622:Unc13a	APN	8	72,105,158 (GRCm39)	splice site	probably null
IGL02634:Unc13a	APN	8	72,108,345 (GRCm39)	missense	probably benign	0.03
IGL02724:Unc13a	APN	8	72,108,949 (GRCm39)	splice site	probably benign
IGL02892:Unc13a	APN	8	72,102,554 (GRCm39)	missense	probably damaging	1.00
IGL02948:Unc13a	APN	8	72,103,193 (GRCm39)	missense	possibly damaging	0.63
IGL03372:Unc13a	APN	8	72,108,353 (GRCm39)	missense	probably damaging	1.00
curvy	UTSW	8	72,083,148 (GRCm39)	splice site	probably null
Greed	UTSW	8	72,107,489 (GRCm39)	missense	probably damaging	1.00
largesse	UTSW	8	72,087,302 (GRCm39)	missense	probably damaging	1.00
serpiginous	UTSW	8	72,116,889 (GRCm39)	missense	probably damaging	1.00
PIT4469001:Unc13a	UTSW	8	72,110,958 (GRCm39)	nonsense	probably null
R0067:Unc13a	UTSW	8	72,087,302 (GRCm39)	missense	probably damaging	1.00
R0067:Unc13a	UTSW	8	72,087,302 (GRCm39)	missense	probably damaging	1.00
R0389:Unc13a	UTSW	8	72,110,676 (GRCm39)	missense	probably benign	0.01
R0457:Unc13a	UTSW	8	72,110,645 (GRCm39)	critical splice donor site	probably null
R0478:Unc13a	UTSW	8	72,103,792 (GRCm39)	missense	possibly damaging	0.92
R0483:Unc13a	UTSW	8	72,097,557 (GRCm39)	missense	probably damaging	0.96
R0609:Unc13a	UTSW	8	72,111,111 (GRCm39)	missense	probably damaging	0.96
R0611:Unc13a	UTSW	8	72,102,509 (GRCm39)	missense	probably damaging	1.00
R0730:Unc13a	UTSW	8	72,108,929 (GRCm39)	missense	possibly damaging	0.68
R0883:Unc13a	UTSW	8	72,094,817 (GRCm39)	nonsense	probably null
R1162:Unc13a	UTSW	8	72,100,561 (GRCm39)	missense	probably benign	0.31
R1185:Unc13a	UTSW	8	72,114,477 (GRCm39)	missense	probably benign	0.13
R1185:Unc13a	UTSW	8	72,114,477 (GRCm39)	missense	probably benign	0.13
R1185:Unc13a	UTSW	8	72,114,477 (GRCm39)	missense	probably benign	0.13
R1196:Unc13a	UTSW	8	72,107,630 (GRCm39)	missense	probably damaging	1.00
R1400:Unc13a	UTSW	8	72,103,865 (GRCm39)	missense	probably damaging	1.00
R1446:Unc13a	UTSW	8	72,101,625 (GRCm39)	missense	possibly damaging	0.91
R1507:Unc13a	UTSW	8	72,110,910 (GRCm39)	missense	probably benign
R1636:Unc13a	UTSW	8	72,106,034 (GRCm39)	missense	probably damaging	1.00
R1858:Unc13a	UTSW	8	72,105,043 (GRCm39)	missense	probably damaging	1.00
R2025:Unc13a	UTSW	8	72,092,412 (GRCm39)	missense	possibly damaging	0.92
R2107:Unc13a	UTSW	8	72,108,895 (GRCm39)	splice site	probably null
R2286:Unc13a	UTSW	8	72,083,203 (GRCm39)	missense	probably damaging	1.00
R2334:Unc13a	UTSW	8	72,087,202 (GRCm39)	missense	probably damaging	1.00
R2924:Unc13a	UTSW	8	72,097,596 (GRCm39)	missense	possibly damaging	0.88
R3177:Unc13a	UTSW	8	72,082,339 (GRCm39)	missense	probably benign	0.01
R3277:Unc13a	UTSW	8	72,082,339 (GRCm39)	missense	probably benign	0.01
R4175:Unc13a	UTSW	8	72,120,368 (GRCm39)	intron	probably benign
R4279:Unc13a	UTSW	8	72,119,311 (GRCm39)	missense	probably damaging	0.98
R4629:Unc13a	UTSW	8	72,106,097 (GRCm39)	missense	possibly damaging	0.65
R4803:Unc13a	UTSW	8	72,115,494 (GRCm39)	splice site	probably null
R4877:Unc13a	UTSW	8	72,111,260 (GRCm39)	missense	possibly damaging	0.85
R4927:Unc13a	UTSW	8	72,107,489 (GRCm39)	missense	probably damaging	1.00
R4930:Unc13a	UTSW	8	72,083,148 (GRCm39)	splice site	probably null
R4994:Unc13a	UTSW	8	72,095,816 (GRCm39)	missense	probably benign	0.28
R5011:Unc13a	UTSW	8	72,094,121 (GRCm39)	nonsense	probably null
R5252:Unc13a	UTSW	8	72,105,208 (GRCm39)	missense	probably damaging	1.00
R5356:Unc13a	UTSW	8	72,115,158 (GRCm39)	missense	probably benign	0.02
R5458:Unc13a	UTSW	8	72,116,889 (GRCm39)	missense	probably damaging	1.00
R5514:Unc13a	UTSW	8	72,095,795 (GRCm39)	missense	probably damaging	1.00
R5784:Unc13a	UTSW	8	72,108,310 (GRCm39)	missense	possibly damaging	0.61
R5853:Unc13a	UTSW	8	72,107,773 (GRCm39)	splice site	probably null
R6183:Unc13a	UTSW	8	72,097,310 (GRCm39)	missense	probably damaging	1.00
R6277:Unc13a	UTSW	8	72,119,283 (GRCm39)	critical splice donor site	probably null
R6374:Unc13a	UTSW	8	72,094,097 (GRCm39)	missense	possibly damaging	0.70
R6392:Unc13a	UTSW	8	72,090,453 (GRCm39)	missense	possibly damaging	0.83
R6515:Unc13a	UTSW	8	72,100,584 (GRCm39)	missense	probably benign	0.44
R6576:Unc13a	UTSW	8	72,106,122 (GRCm39)	missense	probably benign	0.00
R6943:Unc13a	UTSW	8	72,105,021 (GRCm39)	missense	probably damaging	1.00
R7045:Unc13a	UTSW	8	72,111,407 (GRCm39)	missense	possibly damaging	0.95
R7062:Unc13a	UTSW	8	72,115,881 (GRCm39)	missense	probably benign	0.00
R7146:Unc13a	UTSW	8	72,083,197 (GRCm39)	missense	probably damaging	1.00
R7260:Unc13a	UTSW	8	72,113,229 (GRCm39)	missense	possibly damaging	0.71
R7443:Unc13a	UTSW	8	72,083,603 (GRCm39)	missense	probably damaging	0.98
R7545:Unc13a	UTSW	8	72,094,153 (GRCm39)	critical splice acceptor site	probably null
R7644:Unc13a	UTSW	8	72,087,182 (GRCm39)	missense	probably benign	0.13
R7780:Unc13a	UTSW	8	72,110,979 (GRCm39)	missense	probably benign	0.02
R7952:Unc13a	UTSW	8	72,111,131 (GRCm39)	missense	possibly damaging	0.71
R7989:Unc13a	UTSW	8	72,104,917 (GRCm39)	missense	probably damaging	1.00
R8169:Unc13a	UTSW	8	72,108,933 (GRCm39)	missense	probably damaging	1.00
R8503:Unc13a	UTSW	8	72,098,405 (GRCm39)	missense	possibly damaging	0.67
R8504:Unc13a	UTSW	8	72,098,405 (GRCm39)	missense	possibly damaging	0.67
R8675:Unc13a	UTSW	8	72,098,359 (GRCm39)	missense	probably benign	0.00
R8929:Unc13a	UTSW	8	72,103,835 (GRCm39)	missense	probably benign	0.01
R8945:Unc13a	UTSW	8	72,100,597 (GRCm39)	missense	probably damaging	0.99
R8979:Unc13a	UTSW	8	72,113,125 (GRCm39)	missense	probably benign	0.07
R9109:Unc13a	UTSW	8	72,108,335 (GRCm39)	missense	possibly damaging	0.65
R9136:Unc13a	UTSW	8	72,104,994 (GRCm39)	missense	possibly damaging	0.93
R9235:Unc13a	UTSW	8	72,115,912 (GRCm39)	missense	probably benign
R9298:Unc13a	UTSW	8	72,108,335 (GRCm39)	missense	possibly damaging	0.65
R9355:Unc13a	UTSW	8	72,098,375 (GRCm39)	missense	possibly damaging	0.67
R9483:Unc13a	UTSW	8	72,103,221 (GRCm39)	missense	probably benign	0.01
R9647:Unc13a	UTSW	8	72,104,882 (GRCm39)	missense	probably damaging	0.98
R9696:Unc13a	UTSW	8	72,082,197 (GRCm39)	missense	possibly damaging	0.91
Z1088:Unc13a	UTSW	8	72,107,447 (GRCm39)	critical splice donor site	probably null
Z1177:Unc13a	UTSW	8	72,097,516 (GRCm39)	critical splice donor site	probably null

Posted On

2016-08-02