Incidental Mutation 'R0730:Unc13a'
ID 67468
Institutional Source Beutler Lab
Gene Symbol Unc13a
Ensembl Gene ENSMUSG00000034799
Gene Name unc-13 homolog A
Synonyms Munc13-1, 2410078G03Rik
MMRRC Submission 038911-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0730 (G1)
Quality Score 213
Status Validated
Chromosome 8
Chromosomal Location 72079356-72124418 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72108929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 115 (D115G)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030170] [ENSMUST00000177517]
AlphaFold Q4KUS2
Predicted Effect probably benign
Transcript: ENSMUST00000030170
AA Change: D479G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030170
Gene: ENSMUSG00000034799
AA Change: D479G

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 possibly damaging
Transcript: ENSMUST00000176426
AA Change: D115G

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176777
Predicted Effect probably benign
Transcript: ENSMUST00000177517
AA Change: D479G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000135189
Gene: ENSMUSG00000034799
AA Change: D479G

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.1%
Validation Efficiency 99% (99/100)
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 A T 8: 25,486,774 (GRCm39) I168N probably benign Het
Adamts20 G A 15: 94,245,571 (GRCm39) A577V probably benign Het
Agtr1a A T 13: 30,565,279 (GRCm39) S115C probably damaging Het
Ankrd11 T C 8: 123,618,692 (GRCm39) Y1720C probably damaging Het
Ano6 A T 15: 95,818,252 (GRCm39) T353S probably damaging Het
App A G 16: 84,876,840 (GRCm39) F184L probably damaging Het
Arhgef38 T A 3: 132,843,232 (GRCm39) Y446F probably benign Het
Aspg T A 12: 112,078,693 (GRCm39) Y57* probably null Het
Atp1a4 G A 1: 172,067,774 (GRCm39) probably benign Het
Bdp1 G A 13: 100,195,459 (GRCm39) probably benign Het
Bicd2 T A 13: 49,531,717 (GRCm39) S246T possibly damaging Het
Brd10 T A 19: 29,695,381 (GRCm39) I1438F probably benign Het
Bsn T A 9: 107,984,011 (GRCm39) M3348L unknown Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cacna2d3 T C 14: 28,704,322 (GRCm39) I820V probably benign Het
Cdc40 A G 10: 40,720,952 (GRCm39) probably benign Het
Cdh23 T C 10: 60,159,493 (GRCm39) E2094G probably damaging Het
Celsr2 T A 3: 108,305,922 (GRCm39) N2061Y probably damaging Het
Cfap206 G A 4: 34,711,391 (GRCm39) A502V probably benign Het
Cfap54 T C 10: 92,870,599 (GRCm39) T29A probably benign Het
Cfap57 T C 4: 118,470,117 (GRCm39) probably null Het
Chd5 A G 4: 152,432,441 (GRCm39) E43G possibly damaging Het
Clk1 G A 1: 58,453,558 (GRCm39) H343Y probably benign Het
Cntn4 A C 6: 106,527,447 (GRCm39) K443T probably damaging Het
Csn2 G A 5: 87,842,811 (GRCm39) A72V possibly damaging Het
Ctdp1 T A 18: 80,493,457 (GRCm39) H346L probably benign Het
Ctif A T 18: 75,698,083 (GRCm39) N192K probably damaging Het
Ddr2 G A 1: 169,823,135 (GRCm39) A383V probably benign Het
Derl3 C T 10: 75,731,076 (GRCm39) probably benign Het
Dgkh T C 14: 78,821,919 (GRCm39) I865V probably damaging Het
Dip2b C T 15: 100,069,532 (GRCm39) A619V probably damaging Het
Elapor1 T A 3: 108,376,851 (GRCm39) H509L probably benign Het
Eml1 A G 12: 108,496,585 (GRCm39) T614A possibly damaging Het
Eogt G C 6: 97,092,970 (GRCm39) Y402* probably null Het
Erbb4 A G 1: 68,298,449 (GRCm39) V647A probably damaging Het
Esm1 G T 13: 113,350,036 (GRCm39) probably null Het
Fbxo31 A G 8: 122,282,103 (GRCm39) probably benign Het
Fbxw5 T A 2: 25,394,630 (GRCm39) D201E possibly damaging Het
Fgfr1 G A 8: 26,045,760 (GRCm39) D123N probably benign Het
G530012D18Rik A C 1: 85,504,757 (GRCm39) probably benign Het
Gnat1 G A 9: 107,556,662 (GRCm39) T29I probably damaging Het
Gtf2ird2 A T 5: 134,221,597 (GRCm39) R67* probably null Het
Il22b A T 10: 118,130,142 (GRCm39) D87E probably benign Het
Kcnq3 T C 15: 65,867,457 (GRCm39) T729A probably benign Het
Klrc2 A T 6: 129,635,659 (GRCm39) S156R probably damaging Het
Krt76 A T 15: 101,795,784 (GRCm39) L462Q probably damaging Het
Lama3 C A 18: 12,589,907 (GRCm39) probably benign Het
Lin28a A T 4: 133,735,319 (GRCm39) S56T probably damaging Het
Macf1 A G 4: 123,276,323 (GRCm39) probably benign Het
Macrod2 C T 2: 142,059,594 (GRCm39) probably benign Het
Mansc1 C T 6: 134,594,424 (GRCm39) probably benign Het
Map1b G T 13: 99,566,274 (GRCm39) S2149* probably null Het
Mgst1 A T 6: 138,124,667 (GRCm39) T34S probably benign Het
Mlf2 C T 6: 124,911,354 (GRCm39) T123M probably damaging Het
Mospd2 C T X: 163,731,253 (GRCm39) probably benign Het
Mrpl15 A T 1: 4,847,834 (GRCm39) V155E probably damaging Het
Mstn A T 1: 53,100,953 (GRCm39) Y10F possibly damaging Het
Myo1g C T 11: 6,470,794 (GRCm39) V21M probably damaging Het
Myom2 T C 8: 15,149,326 (GRCm39) I599T probably benign Het
Ndc80 A T 17: 71,803,241 (GRCm39) N633K probably benign Het
Nhs C A X: 160,620,296 (GRCm39) V1487L possibly damaging Het
Npc1 T C 18: 12,352,382 (GRCm39) T106A probably benign Het
Nup133 C T 8: 124,675,747 (GRCm39) V57M probably benign Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Oprm1 T C 10: 6,782,652 (GRCm39) probably benign Het
Or5j1 T C 2: 86,879,492 (GRCm39) I29M probably benign Het
Or6c219 T A 10: 129,780,980 (GRCm39) H317L probably benign Het
Or8j3 A G 2: 86,029,069 (GRCm39) V9A probably benign Het
Ostf1 C T 19: 18,581,571 (GRCm39) V14I unknown Het
Pcdhb14 C A 18: 37,581,921 (GRCm39) D342E probably damaging Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pdpr T C 8: 111,852,387 (GRCm39) probably null Het
Plce1 G A 19: 38,705,135 (GRCm39) V847M probably damaging Het
Pon3 A G 6: 5,230,444 (GRCm39) M288T probably benign Het
Psd2 A T 18: 36,111,627 (GRCm39) D84V possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ralgapa1 T C 12: 55,712,448 (GRCm39) K1808E probably damaging Het
Ramp3 T C 11: 6,626,476 (GRCm39) probably benign Het
Rasgrf1 T A 9: 89,833,062 (GRCm39) probably benign Het
Rictor A G 15: 6,803,467 (GRCm39) probably benign Het
Rptor A T 11: 119,775,780 (GRCm39) I984F probably benign Het
Slc1a6 C T 10: 78,631,842 (GRCm39) P223S probably benign Het
Taar8b A C 10: 23,967,924 (GRCm39) V90G probably damaging Het
Tbc1d21 A G 9: 58,267,160 (GRCm39) V327A probably benign Het
Tex21 T C 12: 76,250,940 (GRCm39) T499A probably benign Het
Tg A T 15: 66,550,638 (GRCm39) D256V probably damaging Het
Tmf1 A G 6: 97,153,453 (GRCm39) S207P probably benign Het
Tpr A G 1: 150,269,158 (GRCm39) probably benign Het
Ufd1 A G 16: 18,633,637 (GRCm39) T21A probably damaging Het
Usb1 T A 8: 96,070,669 (GRCm39) F198L probably damaging Het
Utrn A T 10: 12,573,902 (GRCm39) probably benign Het
Vars1 A G 17: 35,233,276 (GRCm39) N954S probably damaging Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Wdr33 C T 18: 31,968,429 (GRCm39) probably benign Het
Zfp236 A G 18: 82,658,369 (GRCm39) probably benign Het
Zfp445 A T 9: 122,690,823 (GRCm39) V124E probably damaging Het
Zfp616 A T 11: 73,975,648 (GRCm39) H639L probably damaging Het
Zfyve16 C A 13: 92,657,985 (GRCm39) S642I probably damaging Het
Zswim5 C T 4: 116,842,943 (GRCm39) T896I possibly 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
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
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'- GCTCTCAGATGGGTAAGTTGGCATAG -3'
(R):5'- TCGATGGATTTGATTGACAGAGAGGC -3'

Sequencing Primer
(F):5'- tcagggctacacagagaaac -3'
(R):5'- Gcagactgttttacaggctagg -3'
Posted On 2013-09-03