Incidental Mutation 'R4629:Unc13a'
ID 349048
Institutional Source Beutler Lab
Gene Symbol Unc13a
Ensembl Gene ENSMUSG00000034799
Gene Name unc-13 homolog A
Synonyms Munc13-1, 2410078G03Rik
MMRRC Submission 041894-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4629 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 72079356-72124418 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72106097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 669 (M669T)
Ref Sequence ENSEMBL: ENSMUSP00000030170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030170] [ENSMUST00000177517]
AlphaFold Q4KUS2
Predicted Effect possibly damaging
Transcript: ENSMUST00000030170
AA Change: M669T

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030170
Gene: ENSMUSG00000034799
AA Change: M669T

DomainStartEndE-ValueType
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: M669T

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000135189
Gene: ENSMUSG00000034799
AA Change: M669T

DomainStartEndE-ValueType
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921528I07Rik T C 9: 114,108,419 (GRCm39) noncoding transcript Het
Abca6 T C 11: 110,121,375 (GRCm39) probably null Het
Adam22 A G 5: 8,282,663 (GRCm39) S111P possibly damaging Het
Adamts18 C T 8: 114,499,800 (GRCm39) W371* probably null Het
Akr1c13 G T 13: 4,247,869 (GRCm39) V214F probably damaging Het
Alg10b C T 15: 90,111,948 (GRCm39) A264V probably benign Het
Angpt1 T A 15: 42,301,796 (GRCm39) Y404F probably benign Het
Apol7c A G 15: 77,410,595 (GRCm39) F117S probably damaging Het
Asic5 T A 3: 81,913,811 (GRCm39) Y162N probably damaging Het
Cacna2d2 A T 9: 107,404,521 (GRCm39) E1104V probably damaging Het
Cad G A 5: 31,227,639 (GRCm39) V1263I probably damaging Het
Cdc20 T C 4: 118,290,761 (GRCm39) E413G probably damaging Het
Cfap46 A T 7: 139,260,843 (GRCm39) L85Q probably damaging Het
Cnot6l A G 5: 96,225,070 (GRCm39) V541A probably benign Het
Cubn T A 2: 13,318,790 (GRCm39) probably null Het
Cx3cr1 T C 9: 119,880,730 (GRCm39) N224S probably damaging Het
Fam98c T C 7: 28,854,693 (GRCm39) T49A possibly damaging Het
Fez2 C T 17: 78,710,183 (GRCm39) S202N probably benign Het
Fras1 A G 5: 96,924,593 (GRCm39) N3678S probably benign Het
Glyr1 A G 16: 4,854,907 (GRCm39) V57A possibly damaging Het
Gm5617 T A 9: 48,407,187 (GRCm39) L107Q possibly damaging Het
Gpnmb A G 6: 49,027,994 (GRCm39) D401G possibly damaging Het
Gtpbp6 C A 5: 110,254,774 (GRCm39) V100L possibly damaging Het
Gucy1a1 A G 3: 82,004,931 (GRCm39) V618A probably damaging Het
H6pd A T 4: 150,080,803 (GRCm39) M14K probably benign Het
Hectd4 A G 5: 121,435,266 (GRCm39) M993V probably benign Het
Kat14 A G 2: 144,246,140 (GRCm39) probably benign Het
Kctd21 A G 7: 96,996,782 (GRCm39) D85G probably damaging Het
Kera A G 10: 97,445,493 (GRCm39) N284S probably benign Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Lama1 A G 17: 68,112,355 (GRCm39) probably null Het
Lgr6 T C 1: 135,032,670 (GRCm39) Y70C probably damaging Het
Lipg T A 18: 75,081,107 (GRCm39) K325* probably null Het
Lrrc43 T C 5: 123,637,583 (GRCm39) L250P probably damaging Het
Lyz1 C T 10: 117,127,041 (GRCm39) R65H probably benign Het
Marchf10 T A 11: 105,280,664 (GRCm39) L540F probably benign Het
Maz G T 7: 126,624,519 (GRCm39) H334N possibly damaging Het
Myh1 A G 11: 67,100,119 (GRCm39) K646R probably benign Het
Nf2 A T 11: 4,798,915 (GRCm39) V24E probably damaging Het
Nup210l T C 3: 90,075,182 (GRCm39) S831P probably benign Het
Nup210l C T 3: 90,098,181 (GRCm39) R1378* probably null Het
Or13a17 T A 7: 140,271,291 (GRCm39) S158T probably benign Het
Orc5 G T 5: 22,753,003 (GRCm39) F10L probably benign Het
Palb2 A C 7: 121,727,189 (GRCm39) I227S possibly damaging Het
Pate3 A T 9: 35,557,453 (GRCm39) C68S probably damaging Het
Pcdha12 T A 18: 37,154,926 (GRCm39) N548K probably damaging Het
Prdm10 C T 9: 31,248,612 (GRCm39) Q345* probably null Het
Ptx4 A T 17: 25,341,737 (GRCm39) N71Y probably damaging Het
Rab42 C T 4: 132,030,548 (GRCm39) R34Q probably benign Het
Rergl A G 6: 139,478,850 (GRCm39) V8A probably damaging Het
Rmi1 A G 13: 58,556,950 (GRCm39) R400G probably benign Het
Rpia A G 6: 70,743,578 (GRCm39) M291T possibly damaging Het
Rplp0 G A 5: 115,699,482 (GRCm39) probably null Het
Rrp12 A T 19: 41,871,955 (GRCm39) I443N probably benign Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Saxo1 T C 4: 86,406,064 (GRCm39) Y45C probably damaging Het
Sec24a A T 11: 51,612,640 (GRCm39) probably null Het
Setdb2 A G 14: 59,646,808 (GRCm39) V585A probably benign Het
Sik1 T C 17: 32,068,581 (GRCm39) E347G probably benign Het
Srbd1 T C 17: 86,428,100 (GRCm39) T378A probably damaging Het
Tacr1 A G 6: 82,380,861 (GRCm39) T91A probably benign Het
Tas2r135 T A 6: 42,383,160 (GRCm39) M233K probably benign Het
Tfg A T 16: 56,533,039 (GRCm39) M40K probably damaging Het
Tmem35b C T 4: 127,022,796 (GRCm39) P133S probably benign Het
Tmtc2 A T 10: 105,139,511 (GRCm39) S672T probably benign Het
Trpv3 A T 11: 73,172,615 (GRCm39) K253N probably damaging Het
Ube2c A G 2: 164,614,093 (GRCm39) N143S possibly damaging Het
Vmn1r61 T A 7: 5,614,249 (GRCm39) I22F probably benign Het
Vmn2r26 A T 6: 124,038,150 (GRCm39) Q575L possibly damaging Het
Vmn2r81 A T 10: 79,103,276 (GRCm39) E156D probably damaging Het
Vwa3a T A 7: 120,392,598 (GRCm39) N812K probably benign Het
Wasl T C 6: 24,637,680 (GRCm39) R71G probably damaging Het
Wdfy4 A T 14: 32,824,515 (GRCm39) N1301K probably damaging Het
Zfp827 G A 8: 79,787,011 (GRCm39) R59Q probably damaging Het
Zfp87 A G 13: 74,520,512 (GRCm39) C189R probably damaging Het
Other mutations in Unc13a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- CTCTCACATGCATGCTAGAGGC -3'
(R):5'- AATCCAGAGTAGCCTCAGAGG -3'

Sequencing Primer
(F):5'- TAGAGGCAGCTTCCCTGAG -3'
(R):5'- GGTCACTAAGGCCAAGTACATCTG -3'
Posted On 2015-10-08