Mutagenetix > Incidental Mutation

Incidental Mutation 'R9298:Unc13a'

704732

Institutional Source

Beutler Lab

Gene Symbol

Unc13a

Ensembl Gene

ENSMUSG00000034799

Gene Name

unc-13 homolog A

Synonyms

Munc13-1, 2410078G03Rik

MMRRC Submission

068963-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9298 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72079356-72124418 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72108335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 506 (R506Q)

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: R506Q

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030170
Gene: ENSMUSG00000034799
AA Change: R506Q

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

possibly damaging
Transcript: ENSMUST00000177517
AA Change: R506Q

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135189
Gene: ENSMUSG00000034799
AA Change: R506Q

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

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	C	A	8: 73,198,923 (GRCm39)	A110D	probably benign	Het
4930407I10Rik	A	G	15: 81,947,615 (GRCm39)	E504G	probably benign	Het
Apbb2	T	C	5: 66,609,018 (GRCm39)	K210E	probably benign	Het
Arhgef37	G	T	18: 61,651,072 (GRCm39)	A151D	probably damaging	Het
Btaf1	A	G	19: 36,964,114 (GRCm39)	Y895C	probably benign	Het
Catsperb	A	G	12: 101,560,600 (GRCm39)	I864V	possibly damaging	Het
Cdhr17	T	A	5: 16,996,855 (GRCm39)	C10*	probably null	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Col18a1	G	A	10: 76,893,204 (GRCm39)	T1057M	probably damaging	Het
Col1a2	T	A	6: 4,515,260 (GRCm39)		probably null	Het
Col6a4	A	G	9: 105,945,534 (GRCm39)	I860T	probably damaging	Het
Csmd3	A	C	15: 47,617,187 (GRCm39)	H1000Q		Het
Cyp4a29	T	A	4: 115,108,395 (GRCm39)	M373K	probably damaging	Het
Dnhd1	A	G	7: 105,333,173 (GRCm39)	E215G	probably damaging	Het
Dop1b	A	G	16: 93,597,087 (GRCm39)	E1972G	probably damaging	Het
Dusp19	T	C	2: 80,447,729 (GRCm39)	M1T	probably null	Het
Eif4b	A	G	15: 101,990,449 (GRCm39)	T18A	possibly damaging	Het
Exosc6	G	A	8: 111,783,513 (GRCm39)	A171T	probably damaging	Het
Fau	G	A	19: 6,108,297 (GRCm39)	R6H	probably benign	Het
Flrt3	T	C	2: 140,501,879 (GRCm39)	D583G	probably damaging	Het
Fpgt	A	T	3: 154,792,695 (GRCm39)	L444*	probably null	Het
Gm10226	A	G	17: 21,910,768 (GRCm39)	E1G	probably null	Het
Gm14443	A	T	2: 175,011,869 (GRCm39)	C192*	probably null	Het
Gm4353	T	A	7: 115,682,843 (GRCm39)	N246I	probably benign	Het
Igfn1	A	G	1: 135,926,327 (GRCm39)	L41P	probably benign	Het
Iigp1	T	G	18: 60,523,063 (GRCm39)	D60E	probably benign	Het
Kcnt2	T	A	1: 140,353,035 (GRCm39)	V248D	probably damaging	Het
Kctd14	A	G	7: 97,107,243 (GRCm39)	K166R	probably benign	Het
Kdm4d	G	A	9: 14,375,336 (GRCm39)	T174M	probably damaging	Het
Kdm5b	T	C	1: 134,528,493 (GRCm39)		probably null	Het
Maz	CGCGGCCTCGGCGGCTGGTGCGG	CGCGG	7: 126,625,075 (GRCm39)		probably benign	Het
Mrtfb	A	G	16: 13,202,082 (GRCm39)	Q115R	probably benign	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Or10a5	A	T	7: 106,635,640 (GRCm39)	I93F	probably damaging	Het
Or2h1b	A	T	17: 37,462,572 (GRCm39)	V97D	probably damaging	Het
Or5b95	T	A	19: 12,658,190 (GRCm39)	C239*	probably null	Het
Pigc	C	T	1: 161,798,032 (GRCm39)	R5C	probably benign	Het
Plekhm2	C	A	4: 141,356,829 (GRCm39)	M771I	probably benign	Het
Runx1	T	A	16: 92,441,147 (GRCm39)	T221S	possibly damaging	Het
S100pbp	A	G	4: 129,044,847 (GRCm39)	Y363H	probably damaging	Het
Sema5a	A	G	15: 32,619,040 (GRCm39)	T523A	probably benign	Het
Slc38a8	A	G	8: 120,212,851 (GRCm39)	F270S	possibly damaging	Het
Slc4a1ap	T	C	5: 31,693,538 (GRCm39)	S491P	probably damaging	Het
Slc66a2	T	C	18: 80,300,300 (GRCm39)	L57P	probably damaging	Het
Slc7a6	T	C	8: 106,922,534 (GRCm39)	V440A	probably damaging	Het
Sobp	A	T	10: 42,898,902 (GRCm39)	C228S	probably damaging	Het
Svop	G	A	5: 114,168,231 (GRCm39)	T456M	probably benign	Het
Synrg	A	G	11: 83,900,278 (GRCm39)	D750G	probably damaging	Het
Syt14	C	A	1: 192,612,944 (GRCm39)	E336*	probably null	Het
Tcp11l1	C	T	2: 104,528,897 (GRCm39)	V134I	possibly damaging	Het
Tex51	T	C	18: 32,594,029 (GRCm39)	R110G	possibly damaging	Het
Tle3	T	A	9: 61,319,562 (GRCm39)	H443Q	possibly damaging	Het
Vmn1r121	A	C	7: 20,832,344 (GRCm39)	V32G	probably damaging	Het
Wiz	A	G	17: 32,580,714 (GRCm39)	F246L	probably benign	Het
Zfp672	A	T	11: 58,220,590 (GRCm39)	M3K	unknown	Het
Zfp709	A	T	8: 72,644,648 (GRCm39)	E692D	possibly damaging	Het
Zglp1	A	T	9: 20,977,482 (GRCm39)	L111Q	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
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
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'- CCGTTACTCACCATAGCCTGAG -3'
(R):5'- AAAGGTCACACTCCTAGGCTTG -3'

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

Posted On

2022-03-25