Mutagenetix > Incidental Mutation

Incidental Mutation 'R5784:Unc13a'

447920

Institutional Source

Beutler Lab

Gene Symbol

Unc13a

Ensembl Gene

ENSMUSG00000034799

Gene Name

unc-13 homolog A

Synonyms

Munc13-1, 2410078G03Rik

MMRRC Submission

043381-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5784 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72079356-72124418 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 72108310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 514 (D514E)

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: D514E

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000030170
Gene: ENSMUSG00000034799
AA Change: D514E

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

noncoding transcript
Transcript: ENSMUST00000175780

Predicted Effect

unknown
Transcript: ENSMUST00000176426
AA Change: D150E

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176777

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177517
AA Change: D514E

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135189
Gene: ENSMUSG00000034799
AA Change: D514E

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

Meta Mutation Damage Score

0.1066

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (51/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,903,441 (GRCm39)	R292G	possibly damaging	Het
4932416K20Rik	T	A	8: 105,524,261 (GRCm39)		noncoding transcript	Het
Aox3	A	G	1: 58,192,658 (GRCm39)	D544G	probably benign	Het
Atg2a	C	A	19: 6,311,535 (GRCm39)	A1830D	probably damaging	Het
Casp1	T	C	9: 5,299,337 (GRCm39)	I22T	probably damaging	Het
Ccdc141	A	C	2: 76,859,671 (GRCm39)	L990W	probably damaging	Het
Cnbd2	A	G	2: 156,180,577 (GRCm39)	T125A	probably damaging	Het
Cnep1r1	T	A	8: 88,857,354 (GRCm39)		probably benign	Het
Dhx38	G	T	8: 110,286,245 (GRCm39)	Y348*	probably null	Het
Dnah7c	A	T	1: 46,563,228 (GRCm39)	I593L	possibly damaging	Het
Dpep3	T	C	8: 106,705,375 (GRCm39)	D125G	probably benign	Het
Eif1ad10	T	A	12: 88,216,525 (GRCm39)	N116Y	probably damaging	Het
Epb41l4b	A	C	4: 57,086,003 (GRCm39)	S191A	probably damaging	Het
Etl4	A	G	2: 20,811,016 (GRCm39)	Y1033C	possibly damaging	Het
Fam193a	T	C	5: 34,623,567 (GRCm39)	L32P	probably damaging	Het
Grin2c	T	C	11: 115,149,121 (GRCm39)	E159G	possibly damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Hdhd2	A	T	18: 77,054,841 (GRCm39)	D205V	probably damaging	Het
Helz	T	A	11: 107,561,307 (GRCm39)	N774K	unknown	Het
Idh3b	A	G	2: 130,121,591 (GRCm39)	V71A	probably damaging	Het
Lars1	T	C	18: 42,352,964 (GRCm39)	M818V	probably benign	Het
Ltbp2	A	G	12: 84,915,513 (GRCm39)	V162A	probably damaging	Het
Ltk	G	A	2: 119,584,840 (GRCm39)	Q136*	probably null	Het
Mafb	A	T	2: 160,208,461 (GRCm39)	C46S	probably damaging	Het
Map1s	T	C	8: 71,367,002 (GRCm39)	S636P	probably damaging	Het
Map3k13	A	G	16: 21,717,391 (GRCm39)	K209E	possibly damaging	Het
Mppe1	T	C	18: 67,361,098 (GRCm39)	N220D	probably benign	Het
Mydgf	T	C	17: 56,485,254 (GRCm39)		probably benign	Het
Myh6	T	C	14: 55,190,521 (GRCm39)	K999E	possibly damaging	Het
Nemp1	T	A	10: 127,513,067 (GRCm39)	V34D	possibly damaging	Het
Npr2	A	G	4: 43,632,801 (GRCm39)	E206G	probably benign	Het
Or10x4	G	A	1: 174,218,965 (GRCm39)	C110Y	probably damaging	Het
Or13g1	T	C	7: 85,955,743 (GRCm39)	N193D	probably damaging	Het
Or9q2	A	T	19: 13,772,710 (GRCm39)	H88Q	probably benign	Het
Papln	A	G	12: 83,828,754 (GRCm39)	N820S	probably benign	Het
Pcdh10	T	G	3: 45,335,075 (GRCm39)	F463C	probably damaging	Het
Pde7a	A	G	3: 19,319,009 (GRCm39)	V12A	probably benign	Het
Radil	G	T	5: 142,473,268 (GRCm39)	H804Q	possibly damaging	Het
Rbfox1	A	T	16: 7,042,203 (GRCm39)	D39V	probably damaging	Het
Rims2	T	G	15: 39,399,383 (GRCm39)		probably null	Het
Rnf121	A	G	7: 101,684,583 (GRCm39)	F110S	probably benign	Het
Saxo2	C	T	7: 82,284,082 (GRCm39)	V259I	probably benign	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc2a3	A	T	6: 122,712,376 (GRCm39)		probably null	Het
Traf2	A	T	2: 25,429,049 (GRCm39)	V6E	probably benign	Het
Trim43c	A	T	9: 88,729,696 (GRCm39)	N379I	probably benign	Het
Ubr4	C	G	4: 139,152,529 (GRCm39)	C1973W	probably damaging	Het
Wdr27	T	A	17: 15,146,495 (GRCm39)	T167S	probably damaging	Het
Zfp174	A	T	16: 3,672,438 (GRCm39)	E329V	probably benign	Het
Zfp422	A	T	6: 116,603,771 (GRCm39)	I76N	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
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
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

Predicted Primers

PCR Primer
(F):5'- CGTTACTCACCATAGCCTGAGG -3'
(R):5'- AGAAAGGTCACACTCCTAGGC -3'

Sequencing Primer
(F):5'- TCACCATAGCCTGAGGTCCAG -3'
(R):5'- AGTTGAACTCTCAGCCCATGG -3'

Posted On

2016-12-15