Incidental Mutation 'R2334:Unc13a'
ID 246526
Institutional Source Beutler Lab
Gene Symbol Unc13a
Ensembl Gene ENSMUSG00000034799
Gene Name unc-13 homolog A
Synonyms Munc13-1, 2410078G03Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2334 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 72079356-72124418 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72087202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1515 (D1515G)
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: D1515G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030170
Gene: ENSMUSG00000034799
AA Change: D1515G

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: ENSMUST00000175909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177032
Predicted Effect probably damaging
Transcript: ENSMUST00000177517
AA Change: D1515G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135189
Gene: ENSMUSG00000034799
AA Change: D1515G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184793
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 A G 4: 144,255,429 (GRCm39) K283R probably damaging Het
Ceacam20 T C 7: 19,705,516 (GRCm39) F169S probably damaging Het
Clint1 A G 11: 45,799,855 (GRCm39) Q556R probably damaging Het
Cpa5 G A 6: 30,624,605 (GRCm39) W148* probably null Het
Cryz C T 3: 154,327,828 (GRCm39) A310V probably benign Het
Dlk1 T C 12: 109,419,614 (GRCm39) V10A probably damaging Het
Fbxw16 T G 9: 109,267,429 (GRCm39) L267F probably benign Het
Frmpd1 T C 4: 45,285,408 (GRCm39) S1410P probably damaging Het
Itgb4 A T 11: 115,884,261 (GRCm39) I982F probably damaging Het
Lrrfip2 G A 9: 111,048,793 (GRCm39) C250Y probably benign Het
Mia3 A G 1: 183,115,256 (GRCm39) probably null Het
Mlh3 T A 12: 85,314,851 (GRCm39) D445V probably benign Het
Ndst4 T A 3: 125,501,825 (GRCm39) N129K possibly damaging Het
Nlrp2 T A 7: 5,340,534 (GRCm39) E93D probably benign Het
Olfm3 T A 3: 114,895,608 (GRCm39) Y163* probably null Het
Or2ak5 A T 11: 58,611,288 (GRCm39) Y195* probably null Het
Or5p59 C T 7: 107,702,555 (GRCm39) T13I probably benign Het
Pdzph1 A G 17: 59,229,644 (GRCm39) S1005P probably damaging Het
Slc46a2 G A 4: 59,914,150 (GRCm39) P258S possibly damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Ttn T C 2: 76,556,138 (GRCm39) E21962G possibly damaging Het
Vmn2r70 T C 7: 85,208,800 (GRCm39) N559S probably benign Het
Wwp1 A T 4: 19,662,032 (GRCm39) I158K probably benign 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
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
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'- ACCTTTGGTGCCTAGATGTC -3'
(R):5'- AGCAGGGAGTAACTTTCCATCTG -3'

Sequencing Primer
(F):5'- TGCCTAGATGTCGGATGCC -3'
(R):5'- GGGAGTAACTTTCCATCTGTGCATAC -3'
Posted On 2014-10-30