Incidental Mutation 'R1400:Unc13a'
ID 160330
Institutional Source Beutler Lab
Gene Symbol Unc13a
Ensembl Gene ENSMUSG00000034799
Gene Name unc-13 homolog A
Synonyms Munc13-1, 2410078G03Rik
MMRRC Submission 039462-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1400 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 72079356-72124418 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 72103865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 856 (D856Y)
Ref Sequence ENSEMBL: ENSMUSP00000030170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030170] [ENSMUST00000177517]
AlphaFold Q4KUS2
Predicted Effect probably damaging
Transcript: ENSMUST00000030170
AA Change: D856Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030170
Gene: ENSMUSG00000034799
AA Change: D856Y

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 damaging
Transcript: ENSMUST00000177517
AA Change: D856Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000135189
Gene: ENSMUSG00000034799
AA Change: D856Y

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: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.8%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130008F23Rik T C 17: 41,191,195 (GRCm39) E78G probably damaging Het
Acsf2 T C 11: 94,461,142 (GRCm39) I345V probably benign Het
Akap11 T A 14: 78,751,402 (GRCm39) K328N probably damaging Het
Aoc1 T A 6: 48,883,217 (GRCm39) Y364* probably null Het
Aoc1 A T 6: 48,883,645 (GRCm39) Q507L probably benign Het
Atp6v1c2 T C 12: 17,339,131 (GRCm39) T207A probably benign Het
Atr C A 9: 95,744,901 (GRCm39) Q73K probably benign Het
Cage1 A G 13: 38,216,400 (GRCm39) S17P possibly damaging Het
Cfap44 A T 16: 44,241,575 (GRCm39) I649F probably benign Het
Cops4 A G 5: 100,681,412 (GRCm39) K200R probably damaging Het
Crygd A G 1: 65,102,367 (GRCm39) S32P probably damaging Het
Cyp3a11 A G 5: 145,799,299 (GRCm39) I296T probably damaging Het
Fads3 A G 19: 10,033,664 (GRCm39) probably null Het
Fbn2 T C 18: 58,213,265 (GRCm39) E974G possibly damaging Het
Gcgr A G 11: 120,425,812 (GRCm39) H45R probably benign Het
Gcn1 T C 5: 115,752,220 (GRCm39) I2112T probably damaging Het
Gm43302 A T 5: 105,422,622 (GRCm39) I470N probably damaging Het
Hoxa13 C G 6: 52,260,647 (GRCm38) probably benign Het
Hoxa13 G C 6: 52,260,648 (GRCm38) probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Krt13 C A 11: 100,012,110 (GRCm39) G71V probably damaging Het
Las1l T C X: 94,990,506 (GRCm39) T390A possibly damaging Het
Lifr T A 15: 7,220,346 (GRCm39) V992E probably benign Het
Mbd5 T C 2: 49,164,788 (GRCm39) probably null Het
Mzf1 C A 7: 12,786,698 (GRCm39) R124L possibly damaging Het
Ndst3 A G 3: 123,350,477 (GRCm39) F636S probably damaging Het
Necab1 T C 4: 14,975,185 (GRCm39) D232G possibly damaging Het
Nlrp4e A T 7: 23,021,085 (GRCm39) E524V possibly damaging Het
Nxf3 T A X: 134,976,794 (GRCm39) T349S probably benign Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or4c12 T A 2: 89,773,886 (GRCm39) H191L possibly damaging Het
Or4n5 A T 14: 50,133,148 (GRCm39) I37K possibly damaging Het
Or7g29 A G 9: 19,286,358 (GRCm39) V273A probably damaging Het
Or9g19 T C 2: 85,600,477 (GRCm39) C111R possibly damaging Het
Plscr1l1 G T 9: 92,233,180 (GRCm39) C25F probably benign Het
Ppm1e T A 11: 87,122,592 (GRCm39) N455I probably damaging Het
Prkag2 G A 5: 25,078,916 (GRCm39) T158I probably damaging Het
Ptpn18 T C 1: 34,502,587 (GRCm39) probably null Het
Rai14 T G 15: 10,571,634 (GRCm39) K936N probably damaging Het
Rasgrf2 A G 13: 92,035,808 (GRCm39) L1077P probably damaging Het
Rgn C A X: 20,416,696 (GRCm39) Q27K probably benign Het
Ryr2 C T 13: 11,609,962 (GRCm39) S723N probably benign Het
Scamp1 A G 13: 94,361,455 (GRCm39) F142L possibly damaging Het
Selenon A G 4: 134,278,829 (GRCm39) V67A probably benign Het
Slc5a5 T C 8: 71,342,079 (GRCm39) I292V possibly damaging Het
Smarca2 C A 19: 26,654,140 (GRCm39) T775K probably damaging Het
Stab1 C T 14: 30,861,787 (GRCm39) V2437I possibly damaging Het
Tas2r143 C T 6: 42,377,317 (GRCm39) A49V probably benign Het
Tlr7 T A X: 166,090,845 (GRCm39) N214Y probably damaging Het
Upp2 T C 2: 58,680,118 (GRCm39) Y263H probably damaging Het
Vill T C 9: 118,892,415 (GRCm39) S349P probably benign Het
Zfp644 T C 5: 106,785,336 (GRCm39) probably null Het
Zfp664 T C 5: 124,963,217 (GRCm39) C204R unknown Het
Zfp729b A G 13: 67,740,913 (GRCm39) Y451H 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
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
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'- CAATAGCGGCATCCTGATAATCTCCC -3'
(R):5'- GCAGAGAAATCTGTCCCTAAGTGGAGC -3'

Sequencing Primer
(F):5'- CATGGCTTGGTAGATGGACT -3'
(R):5'- ggaaaagtggttggtggatg -3'
Posted On 2014-03-14