Mutagenetix > Incidental Mutation

Incidental Mutation 'R8945:Unc13a'

681244

Institutional Source

Beutler Lab

Gene Symbol

Unc13a

Ensembl Gene

ENSMUSG00000034799

Gene Name

unc-13 homolog A

Synonyms

Munc13-1, 2410078G03Rik

MMRRC Submission

068713-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8945 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72079356-72124418 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72100597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1064 (I1064F)

Ref Sequence

ENSEMBL: ENSMUSP00000135189 (fasta)

Gene Model

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

AlphaFold

Q4KUS2

Predicted Effect

probably damaging
Transcript: ENSMUST00000030170
AA Change: I1064F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030170
Gene: ENSMUSG00000034799
AA Change: I1064F

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 damaging
Transcript: ENSMUST00000177517
AA Change: I1064F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135189
Gene: ENSMUSG00000034799
AA Change: I1064F

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: 99.5%

Validation Efficiency

100% (57/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aopep	G	T	13: 63,388,145 (GRCm39)	K709N	probably null	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Atp6v0a2	G	T	5: 124,784,589 (GRCm39)	A291S	probably damaging	Het
Bcl9l	G	T	9: 44,412,238 (GRCm39)	V38L	possibly damaging	Het
Bmp1	T	C	14: 70,727,630 (GRCm39)	Y651C	probably damaging	Het
Btnl9	T	C	11: 49,065,661 (GRCm39)	E398G	probably benign	Het
C2cd3	A	T	7: 100,040,286 (GRCm39)	N285I	possibly damaging	Het
Cavin1	T	C	11: 100,849,659 (GRCm39)	T324A	probably damaging	Het
Ccdc73	A	G	2: 104,821,712 (GRCm39)	T554A	probably benign	Het
Clcn1	A	T	6: 42,263,701 (GRCm39)	M1L	possibly damaging	Het
Clec18a	A	T	8: 111,808,201 (GRCm39)	S77T	possibly damaging	Het
Dhx32	A	G	7: 133,323,876 (GRCm39)		probably null	Het
Dmxl1	C	G	18: 50,072,639 (GRCm39)	N2744K	probably damaging	Het
Dnah10	A	C	5: 124,891,006 (GRCm39)	E3199A	probably damaging	Het
Dnah11	G	T	12: 117,987,718 (GRCm39)	L2395I	probably benign	Het
Dthd1	A	T	5: 63,007,096 (GRCm39)	Y599F	probably benign	Het
Dusp26	G	A	8: 31,586,367 (GRCm39)	R196K	unknown	Het
Dyrk1a	A	G	16: 94,466,866 (GRCm39)	Y140C	probably damaging	Het
Elmo1	T	A	13: 20,766,438 (GRCm39)	Y588*	probably null	Het
Eml6	T	A	11: 29,703,110 (GRCm39)	T1603S	probably damaging	Het
Fam162b	T	C	10: 51,466,469 (GRCm39)	T17A	probably benign	Het
Fnbp1	T	A	2: 30,995,346 (GRCm39)	K29N	probably damaging	Het
Fzd4	A	T	7: 89,056,792 (GRCm39)	I280L	possibly damaging	Het
G3bp2	G	A	5: 92,216,281 (GRCm39)	T85I	probably damaging	Het
Gm13283	C	T	4: 88,679,123 (GRCm39)	A38V	probably benign	Het
Hps3	T	A	3: 20,068,224 (GRCm39)	H610L	probably damaging	Het
Ifnlr1	T	G	4: 135,431,609 (GRCm39)	L266R	probably damaging	Het
Jak1	A	T	4: 101,020,109 (GRCm39)	D683E	probably benign	Het
Lrrc1	G	A	9: 77,342,373 (GRCm39)	T412M	probably damaging	Het
Mdga1	G	T	17: 30,058,959 (GRCm39)		probably benign	Het
Med26	T	C	8: 73,250,934 (GRCm39)	K55R	probably benign	Het
Mturn	C	A	6: 54,666,017 (GRCm39)	C63*	probably null	Het
Myo1h	A	C	5: 114,470,784 (GRCm39)	D381A	probably damaging	Het
Nectin1	A	G	9: 43,703,237 (GRCm39)	D165G	probably benign	Het
Nktr	T	A	9: 121,575,558 (GRCm39)	D330E	possibly damaging	Het
Oprm1	A	T	10: 6,782,644 (GRCm39)		probably benign	Het
Papola	T	A	12: 105,775,946 (GRCm39)		probably benign	Het
Pdcl2	A	T	5: 76,465,675 (GRCm39)	C134S	probably damaging	Het
Plch1	T	C	3: 63,639,039 (GRCm39)	Y478C	probably benign	Het
Rev1	A	T	1: 38,122,824 (GRCm39)	W465R	probably damaging	Het
Rp1	T	A	1: 4,419,817 (GRCm39)	I432F	probably benign	Het
Samd14	A	C	11: 94,912,027 (GRCm39)	D168A	probably damaging	Het
Sdk1	G	T	5: 141,598,935 (GRCm39)	C200F	probably benign	Het
Spmip2	A	G	3: 79,252,812 (GRCm39)	H9R	probably benign	Het
Spsb1	T	C	4: 149,991,475 (GRCm39)	Y31C	possibly damaging	Het
Spz1	T	C	13: 92,711,499 (GRCm39)	K326E	possibly damaging	Het
Tcaf1	C	T	6: 42,663,307 (GRCm39)	S191N	probably benign	Het
Tex15	A	G	8: 34,064,724 (GRCm39)	S1385G	probably benign	Het
Tmem38a	C	T	8: 73,338,570 (GRCm39)	A194V	probably damaging	Het
Trappc9	T	C	15: 72,929,945 (GRCm39)	N137S	probably benign	Het
Tshr	T	C	12: 91,504,997 (GRCm39)	L645P	probably damaging	Het
Tspyl4	T	A	10: 34,173,461 (GRCm39)		probably benign	Het
Utp20	G	A	10: 88,628,532 (GRCm39)	Q921*	probably null	Het
Vps13a	A	T	19: 16,642,114 (GRCm39)	I2171N	probably damaging	Het
Zfp40	A	G	17: 23,401,201 (GRCm39)	V14A	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
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'- CGCTAAATTTCACAGGTGGATC -3'
(R):5'- ATTTGGTCCCAAGTCTGTGG -3'

Sequencing Primer
(F):5'- TTCACAGCTTCTCGGAAGAC -3'
(R):5'- TCCCAAGTCTGTGGTGCAAGAG -3'

Posted On

2021-08-31