Incidental Mutation 'R5356:Unc13a'
ID 424108
Institutional Source Beutler Lab
Gene Symbol Unc13a
Ensembl Gene ENSMUSG00000034799
Gene Name unc-13 homolog A
Synonyms Munc13-1, 2410078G03Rik
MMRRC Submission 042935-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5356 (G1)
Quality Score 208
Status Not validated
Chromosome 8
Chromosomal Location 72079356-72124418 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 72115158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 164 (D164N)
Ref Sequence ENSEMBL: ENSMUSP00000030170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030170] [ENSMUST00000177517]
AlphaFold Q4KUS2
Predicted Effect probably benign
Transcript: ENSMUST00000030170
AA Change: D164N

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000030170
Gene: ENSMUSG00000034799
AA Change: D164N

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 noncoding transcript
Transcript: ENSMUST00000175780
Predicted Effect probably benign
Transcript: ENSMUST00000176426
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176777
Predicted Effect probably benign
Transcript: ENSMUST00000177517
AA Change: D164N

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000135189
Gene: ENSMUSG00000034799
AA Change: D164N

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 C T 3: 37,119,405 (GRCm39) T162I probably damaging Het
Adam22 C A 5: 8,140,182 (GRCm39) G202W probably damaging Het
Amn1 T C 6: 149,068,392 (GRCm39) I205M possibly damaging Het
Ankrd50 A C 3: 38,510,334 (GRCm39) S678A probably damaging Het
Atg13 G A 2: 91,522,811 (GRCm39) R78* probably null Het
Bmper T G 9: 23,285,157 (GRCm39) F235L probably benign Het
Btn2a2 C T 13: 23,667,045 (GRCm39) V187I probably benign Het
Cabs1 G A 5: 88,127,492 (GRCm39) V48I probably benign Het
Cacnb3 A G 15: 98,539,498 (GRCm39) I212V probably damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Cep162 T C 9: 87,088,948 (GRCm39) E978G probably damaging Het
Cmya5 A T 13: 93,199,993 (GRCm39) L3445Q probably damaging Het
Cntrl T A 2: 35,038,911 (GRCm39) L1067* probably null Het
Cyp20a1 G A 1: 60,418,546 (GRCm39) V329I probably benign Het
Cyp2d11 A T 15: 82,274,712 (GRCm39) N288K probably benign Het
D430041D05Rik T G 2: 104,085,754 (GRCm39) T932P probably damaging Het
Dlk1 T A 12: 109,421,447 (GRCm39) C54S probably damaging Het
Dusp29 G A 14: 21,727,091 (GRCm39) R186W probably benign Het
Entpd6 T A 2: 150,612,303 (GRCm39) F416L probably damaging Het
Evx1 A G 6: 52,293,602 (GRCm39) T257A probably benign Het
Fpr-rs3 A T 17: 20,844,596 (GRCm39) S182T probably damaging Het
Glra3 A T 8: 56,393,936 (GRCm39) I16F probably benign Het
Gm11437 C A 11: 84,043,513 (GRCm39) L259F possibly damaging Het
Gorasp1 A T 9: 119,757,024 (GRCm39) L386Q probably damaging Het
Gpsm1 T C 2: 26,230,574 (GRCm39) V508A possibly damaging Het
Gstm1 T A 3: 107,920,052 (GRCm39) I180F probably benign Het
Hc T C 2: 34,885,007 (GRCm39) D1400G probably benign Het
Lrp2 A G 2: 69,295,052 (GRCm39) V3422A possibly damaging Het
Map3k4 A G 17: 12,466,195 (GRCm39) V1128A possibly damaging Het
Mboat2 G C 12: 25,007,572 (GRCm39) V363L probably benign Het
Mgat3 A G 15: 80,095,811 (GRCm39) I213V possibly damaging Het
Mgat3 A G 15: 80,096,655 (GRCm39) N494S probably damaging Het
Mtf2 A T 5: 108,254,476 (GRCm39) T426S possibly damaging Het
Muc3a T C 5: 137,245,021 (GRCm39) I151V probably benign Het
Myh6 T C 14: 55,191,219 (GRCm39) E874G probably damaging Het
Myo15a G A 11: 60,389,192 (GRCm39) G2030R probably damaging Het
Ncdn T C 4: 126,641,021 (GRCm39) Y493C probably damaging Het
Ncoa6 A G 2: 155,263,112 (GRCm39) F441L probably damaging Het
Ndc80 A T 17: 71,828,103 (GRCm39) S75T possibly damaging Het
Nf1 T C 11: 79,364,282 (GRCm39) F1571L possibly damaging Het
Nherf2 A G 17: 24,860,945 (GRCm39) V88A probably damaging Het
Nme8 A G 13: 19,836,469 (GRCm39) F236L probably damaging Het
Nsmce4a C A 7: 130,138,778 (GRCm39) V289L probably damaging Het
Ntrk2 A T 13: 59,208,056 (GRCm39) D634V probably damaging Het
Pcsk6 G C 7: 65,620,340 (GRCm39) E479Q probably damaging Het
Pkd1 A G 17: 24,812,551 (GRCm39) Q3828R probably damaging Het
Ptov1 T A 7: 44,514,089 (GRCm39) T295S probably damaging Het
Ptprf A G 4: 118,083,535 (GRCm39) M824T probably benign Het
Rbm6 T A 9: 107,729,865 (GRCm39) H129L probably damaging Het
Rbm8a2 A G 1: 175,806,255 (GRCm39) I74T possibly damaging Het
Ret A G 6: 118,174,079 (GRCm39) S6P possibly damaging Het
Rspo3 A T 10: 29,376,064 (GRCm39) C70* probably null Het
Sike1 C A 3: 102,909,106 (GRCm39) A202D possibly damaging Het
Slco4c1 G T 1: 96,759,835 (GRCm39) P499H probably damaging Het
Smg1 A G 7: 117,794,356 (GRCm39) probably benign Het
Tmem135 A G 7: 88,954,723 (GRCm39) V98A probably benign Het
Tor4a T A 2: 25,085,918 (GRCm39) probably null Het
Txlna A G 4: 129,524,166 (GRCm39) F397S probably damaging Het
Tyk2 A G 9: 21,027,040 (GRCm39) I581T probably benign Het
Vwa3b T C 1: 37,153,664 (GRCm39) I502T probably damaging Het
Xrcc6 A G 15: 81,913,419 (GRCm39) T6A probably benign Het
Zfp524 T C 7: 5,021,432 (GRCm39) V320A 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
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
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'- TGGACTCCATGTCTGGCTTG -3'
(R):5'- CTCAAACTCATGCGGTGTTCTTG -3'

Sequencing Primer
(F):5'- TTGGCCCTGGCTGTCAC -3'
(R):5'- CTTGGGGGAAGGAGGGACAC -3'
Posted On 2016-08-04