Mutagenetix > Incidental Mutation

Incidental Mutation 'R8929:Unc13a'

679747

Institutional Source

Beutler Lab

Gene Symbol

Unc13a

Ensembl Gene

ENSMUSG00000034799

Gene Name

unc-13 homolog A

Synonyms

Munc13-1, 2410078G03Rik

MMRRC Submission

068773-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8929 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72079356-72124418 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72103835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 866 (T866A)

Ref Sequence

ENSEMBL: ENSMUSP00000135189 (fasta)

Gene Model

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

AlphaFold

Q4KUS2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030170
AA Change: T866A

PolyPhen 2 Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030170
Gene: ENSMUSG00000034799
AA Change: T866A

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: ENSMUST00000176426

Predicted Effect

probably benign
Transcript: ENSMUST00000177517
AA Change: T866A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000135189
Gene: ENSMUSG00000034799
AA Change: T866A

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1	A	G	2: 179,814,730 (GRCm39)	K99E	unknown	Het
Agxt2	C	A	15: 10,393,830 (GRCm39)	L375I	probably benign	Het
Akap13	T	C	7: 75,258,752 (GRCm39)	S459P	probably benign	Het
Arfgef3	T	A	10: 18,479,203 (GRCm39)	T1471S	probably damaging	Het
Atxn2l	C	G	7: 126,092,928 (GRCm39)		probably benign	Het
Azi2	C	A	9: 117,879,044 (GRCm39)	T141K	probably damaging	Het
B4galt6	A	G	18: 20,821,422 (GRCm39)	S369P	possibly damaging	Het
BC051019	C	T	7: 109,315,233 (GRCm39)	E341K	probably damaging	Het
Bdh1	G	A	16: 31,275,712 (GRCm39)	D278N	probably benign	Het
Cdh1	ACTCGAAATGATGTGGCTC	ACTC	8: 107,392,870 (GRCm39)		probably benign	Het
Cdipt	T	G	7: 126,578,825 (GRCm39)	D205E	probably damaging	Het
Clec4b1	G	T	6: 123,046,728 (GRCm39)		probably null	Het
Clip4	T	C	17: 72,138,203 (GRCm39)	L467S	probably damaging	Het
Cndp2	A	G	18: 84,693,298 (GRCm39)	I154T	probably benign	Het
Cyp2j5	T	C	4: 96,546,977 (GRCm39)	N179S	possibly damaging	Het
Dpf1	A	T	7: 29,009,174 (GRCm39)	I100F	probably benign	Het
Dppa5a	A	G	9: 78,275,165 (GRCm39)	S46P	probably benign	Het
Epyc	A	G	10: 97,511,607 (GRCm39)	D200G	probably benign	Het
Ern2	C	T	7: 121,769,363 (GRCm39)	A888T	probably benign	Het
Fndc3b	C	T	3: 27,596,253 (GRCm39)	S112N	probably damaging	Het
Fras1	T	C	5: 96,917,366 (GRCm39)	V3462A	probably damaging	Het
Fstl5	T	C	3: 76,615,138 (GRCm39)	I733T	probably damaging	Het
Gdf3	C	T	6: 122,586,756 (GRCm39)	R57Q		Het
Grwd1	A	T	7: 45,480,056 (GRCm39)	D50E	probably damaging	Het
Hgf	G	T	5: 16,798,988 (GRCm39)	D339Y	probably benign	Het
Kat7	T	C	11: 95,196,982 (GRCm39)	D19G	probably damaging	Het
Lefty1	A	G	1: 180,765,290 (GRCm39)	E286G	probably damaging	Het
Lrriq3	T	C	3: 154,893,819 (GRCm39)	F507L	probably damaging	Het
Mcm4	T	A	16: 15,448,289 (GRCm39)	T423S	probably benign	Het
Metap1	T	C	3: 138,174,643 (GRCm39)	K247E	probably benign	Het
Muc4	T	G	16: 32,575,285 (GRCm39)	I1290S	probably benign	Het
Muc4	A	T	16: 32,754,017 (GRCm38)	T1298S	possibly damaging	Het
Nars1	G	T	18: 64,644,895 (GRCm39)	H82Q	probably benign	Het
Ncapg2	A	T	12: 116,415,983 (GRCm39)	E1121V	probably damaging	Het
Nebl	C	A	2: 17,397,991 (GRCm39)	E481*	probably null	Het
Pdap1	T	C	5: 145,069,672 (GRCm39)	E111G	probably damaging	Het
Pds5b	T	C	5: 150,643,379 (GRCm39)	F67S	probably damaging	Het
Pole	T	C	5: 110,445,654 (GRCm39)	F510S	probably damaging	Het
Ptpn21	A	T	12: 98,655,396 (GRCm39)	Y524N	probably damaging	Het
Ptpn4	A	T	1: 119,595,278 (GRCm39)	M887K	probably damaging	Het
Sec24b	T	C	3: 129,803,507 (GRCm39)	D414G	possibly damaging	Het
Sema5b	C	A	16: 35,467,737 (GRCm39)		probably benign	Het
Slain1	A	T	14: 103,923,164 (GRCm39)	T252S	probably damaging	Het
Slc36a3	A	G	11: 55,028,137 (GRCm39)	F164S	probably damaging	Het
Slc39a7	T	C	17: 34,249,964 (GRCm39)	H90R	unknown	Het
Slc44a4	A	T	17: 35,136,508 (GRCm39)	D58V	probably damaging	Het
Slc5a4a	A	G	10: 76,006,617 (GRCm39)	T340A	probably benign	Het
Sod2	C	A	17: 13,233,974 (GRCm39)	N195K	probably damaging	Het
Spart	T	C	3: 55,035,979 (GRCm39)	S572P	possibly damaging	Het
Sytl2	C	T	7: 90,024,810 (GRCm39)	A266V	probably benign	Het
Tbx15	T	A	3: 99,222,219 (GRCm39)	D227E	probably damaging	Het
Tfap2a	A	G	13: 40,882,308 (GRCm39)	V26A	probably benign	Het
Trank1	T	A	9: 111,208,003 (GRCm39)	F1749L	possibly damaging	Het
Trpc6	A	G	9: 8,643,411 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,706,924 (GRCm39)	I9089N	unknown	Het
Tut7	A	G	13: 59,947,942 (GRCm39)	V793A	probably benign	Het
Vmn1r212	T	A	13: 23,067,494 (GRCm39)	S280C	possibly damaging	Het
Vmn2r82	A	G	10: 79,232,541 (GRCm39)	T847A	probably benign	Het
Zer1	A	G	2: 30,000,881 (GRCm39)	L180P	probably damaging	Het
Zfp445	T	G	9: 122,682,732 (GRCm39)	Y403S	probably benign	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
IGL03081:Unc13a	APN	8	72,102,193 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- TCTAGTTCTTGGCCAGTTGC -3'
(R):5'- TGTTAGTGCGCATGTGGAACC -3'

Sequencing Primer
(F):5'- TCTAGCCCCTACCTCCCAATAG -3'
(R):5'- CATGTGGAACCTGGGTGC -3'

Posted On

2021-08-02