Incidental Mutation 'R8953:Unc13c'
ID 681769
Institutional Source Beutler Lab
Gene Symbol Unc13c
Ensembl Gene ENSMUSG00000062151
Gene Name unc-13 homolog C (C. elegans)
Synonyms Munc13-3, Unc13h3, 1500037O19Rik, D9Ertd414e
MMRRC Submission 068789-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8953 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 73479422-73968966 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73932762 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 269 (Y269F)
Ref Sequence ENSEMBL: ENSMUSP00000074726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075245] [ENSMUST00000184666]
AlphaFold Q8K0T7
Predicted Effect probably benign
Transcript: ENSMUST00000075245
AA Change: Y269F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000074726
Gene: ENSMUSG00000062151
AA Change: Y269F

DomainStartEndE-ValueType
low complexity region 109 127 N/A INTRINSIC
low complexity region 153 164 N/A INTRINSIC
low complexity region 273 287 N/A INTRINSIC
low complexity region 464 491 N/A INTRINSIC
low complexity region 678 694 N/A INTRINSIC
C1 1094 1143 1.37e-17 SMART
C2 1217 1324 1.46e-22 SMART
DUF1041 1535 1642 3.18e-51 SMART
Blast:DUF1041 1714 1838 2e-49 BLAST
Pfam:Membr_traf_MHD 1883 2023 2.6e-50 PFAM
C2 2058 2164 4.15e-13 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000139027
Gene: ENSMUSG00000062151
AA Change: Y269F

DomainStartEndE-ValueType
low complexity region 109 127 N/A INTRINSIC
low complexity region 153 164 N/A INTRINSIC
low complexity region 273 287 N/A INTRINSIC
low complexity region 464 491 N/A INTRINSIC
low complexity region 678 694 N/A INTRINSIC
C1 1094 1143 1.37e-17 SMART
C2 1217 1324 1.46e-22 SMART
DUF1041 1535 1642 3.18e-51 SMART
Blast:DUF1041 1714 1838 2e-49 BLAST
Pfam:Membr_traf_MHD 1882 2024 8.3e-59 PFAM
C2 2058 2164 4.15e-13 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (64/64)
MGI Phenotype PHENOTYPE: Homozygous mutant mice demonstrate an impaired ability to learn complex motor tasks, putatively due to an observed increase in paired-pulse facilitation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T C 6: 91,915,021 (GRCm38) V88A probably benign Het
Abca17 C A 17: 24,299,041 (GRCm38) V765L probably benign Het
Atp2b2 T A 6: 113,760,669 (GRCm38) T915S possibly damaging Het
BC017158 T G 7: 128,273,506 (GRCm38) Q423H probably benign Het
Cacna1s C T 1: 136,097,432 (GRCm38) H992Y possibly damaging Het
Clpp T A 17: 56,991,373 (GRCm38) M113K probably damaging Het
Csn3 A G 5: 87,929,950 (GRCm38) Q105R possibly damaging Het
Dcaf1 G A 9: 106,858,343 (GRCm38) R830Q possibly damaging Het
Dnah17 A T 11: 118,125,412 (GRCm38) probably benign Het
Etv4 A G 11: 101,771,687 (GRCm38) probably null Het
Fos A G 12: 85,476,052 (GRCm38) D246G probably benign Het
Foxo1 T C 3: 52,346,254 (GRCm38) S613P probably damaging Het
Gabra2 A T 5: 71,006,182 (GRCm38) C261S probably damaging Het
Garem1 A T 18: 21,131,331 (GRCm38) probably null Het
Gatsl3 A T 11: 4,221,249 (GRCm38) I244F probably benign Het
Gm10436 A G 12: 88,177,300 (GRCm38) C248R probably benign Het
Gmip T G 8: 69,816,777 (GRCm38) L533R probably damaging Het
Gpr1 A G 1: 63,183,113 (GRCm38) L321P probably damaging Het
Havcr1 A G 11: 46,756,179 (GRCm38) T147A possibly damaging Het
Helz2 C T 2: 181,233,091 (GRCm38) R1870Q probably damaging Het
Kcnk3 A C 5: 30,622,038 (GRCm38) K144T probably damaging Het
Lama5 A G 2: 180,193,520 (GRCm38) V1293A probably damaging Het
Man2b1 A G 8: 85,091,910 (GRCm38) I498V probably benign Het
Map6 T C 7: 99,315,871 (GRCm38) L289P probably damaging Het
Mapk7 G T 11: 61,492,966 (GRCm38) D43E possibly damaging Het
Medag A G 5: 149,427,300 (GRCm38) Y194C probably damaging Het
Mertk A G 2: 128,778,796 (GRCm38) probably benign Het
Mier3 C A 13: 111,706,053 (GRCm38) T136K probably benign Het
Ndc1 T A 4: 107,381,693 (GRCm38) W242R probably damaging Het
Nlrp1b A G 11: 71,161,806 (GRCm38) V932A probably damaging Het
Olfr1138 A T 2: 87,738,027 (GRCm38) M99K probably benign Het
Olfr164 T A 16: 19,286,519 (GRCm38) M75L probably benign Het
Olfr460 G T 6: 40,571,742 (GRCm38) A119S possibly damaging Het
Olfr476 G A 7: 107,968,044 (GRCm38) V216I probably benign Het
Otub2 A T 12: 103,404,326 (GRCm38) D289V probably damaging Het
P2rx3 A G 2: 85,023,498 (GRCm38) V133A possibly damaging Het
Pde4a C A 9: 21,210,734 (GRCm38) T585K probably damaging Het
Pik3c2a A T 7: 116,388,085 (GRCm38) Y534N probably benign Het
Pip5kl1 A G 2: 32,579,979 (GRCm38) D232G possibly damaging Het
Pklr C T 3: 89,142,305 (GRCm38) S234L probably damaging Het
Pkn1 T C 8: 83,684,186 (GRCm38) K271E probably damaging Het
Plch1 T G 3: 63,731,705 (GRCm38) H449P possibly damaging Het
Pparg T C 6: 115,441,546 (GRCm38) L92P possibly damaging Het
Ptgdr2 C T 19: 10,940,422 (GRCm38) T101I probably benign Het
Rad54l2 A T 9: 106,693,262 (GRCm38) H1286Q probably benign Het
Ralgapa1 A G 12: 55,820,761 (GRCm38) S3P probably damaging Het
Rictor G A 15: 6,794,447 (GRCm38) V1598I probably benign Het
Rph3al G T 11: 75,906,575 (GRCm38) C98* probably null Het
Rpn2 A G 2: 157,321,826 (GRCm38) T613A probably damaging Het
Rps20 T A 4: 3,834,617 (GRCm38) M82L probably benign Het
Sh3bp4 A G 1: 89,144,437 (GRCm38) I336V probably damaging Het
Slc6a20b T C 9: 123,609,189 (GRCm38) N174S probably damaging Het
Spta1 A G 1: 174,230,675 (GRCm38) N1903S probably benign Het
Ssfa2 T C 2: 79,660,495 (GRCm38) Y986H probably damaging Het
Tacc2 T C 7: 130,625,757 (GRCm38) S1391P probably benign Het
Terb1 T A 8: 104,468,799 (GRCm38) D570V probably damaging Het
Trhde T A 10: 114,503,061 (GRCm38) I615F probably damaging Het
Ttc13 T C 8: 124,675,349 (GRCm38) N556S probably damaging Het
Ttn T A 2: 76,737,884 (GRCm38) D19228V probably damaging Het
Usp33 T A 3: 152,374,783 (GRCm38) V517E possibly damaging Het
Wee1 A G 7: 110,124,484 (GRCm38) D202G probably benign Het
Zfp318 T A 17: 46,420,430 (GRCm38) S1120T probably benign Het
Zfr2 C A 10: 81,248,437 (GRCm38) N650K probably damaging Het
Znfx1 G A 2: 167,055,501 (GRCm38) T501I probably damaging Het
Other mutations in Unc13c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Unc13c APN 9 73,736,703 (GRCm38) missense probably damaging 0.99
IGL00693:Unc13c APN 9 73,758,602 (GRCm38) missense probably benign 0.18
IGL01022:Unc13c APN 9 73,517,328 (GRCm38) missense probably benign 0.06
IGL01088:Unc13c APN 9 73,932,281 (GRCm38) missense possibly damaging 0.63
IGL01123:Unc13c APN 9 73,933,197 (GRCm38) missense probably benign 0.05
IGL01131:Unc13c APN 9 73,564,053 (GRCm38) missense probably benign
IGL01135:Unc13c APN 9 73,484,893 (GRCm38) missense probably damaging 1.00
IGL01393:Unc13c APN 9 73,540,270 (GRCm38) missense probably benign 0.06
IGL01752:Unc13c APN 9 73,931,811 (GRCm38) missense probably benign 0.01
IGL01893:Unc13c APN 9 73,693,366 (GRCm38) missense probably benign 0.15
IGL01897:Unc13c APN 9 73,546,027 (GRCm38) missense probably damaging 0.99
IGL01936:Unc13c APN 9 73,693,242 (GRCm38) missense probably benign 0.07
IGL02122:Unc13c APN 9 73,734,397 (GRCm38) splice site probably benign
IGL02341:Unc13c APN 9 73,933,210 (GRCm38) missense possibly damaging 0.76
IGL02434:Unc13c APN 9 73,932,628 (GRCm38) missense probably benign 0.01
IGL02545:Unc13c APN 9 73,481,075 (GRCm38) missense probably damaging 0.98
IGL02709:Unc13c APN 9 73,558,956 (GRCm38) missense probably benign 0.00
IGL02815:Unc13c APN 9 73,540,263 (GRCm38) missense possibly damaging 0.83
IGL02904:Unc13c APN 9 73,481,067 (GRCm38) nonsense probably null
IGL03117:Unc13c APN 9 73,534,025 (GRCm38) missense probably benign 0.03
IGL03260:Unc13c APN 9 73,931,344 (GRCm38) missense probably benign 0.11
Feeling UTSW 9 73,693,271 (GRCm38) missense possibly damaging 0.46
Inkling UTSW 9 73,931,844 (GRCm38) missense probably damaging 1.00
notion UTSW 9 73,736,562 (GRCm38) missense probably damaging 1.00
BB001:Unc13c UTSW 9 73,734,408 (GRCm38) missense probably benign 0.05
BB011:Unc13c UTSW 9 73,734,408 (GRCm38) missense probably benign 0.05
PIT4431001:Unc13c UTSW 9 73,749,547 (GRCm38) missense probably damaging 0.99
PIT4651001:Unc13c UTSW 9 73,483,739 (GRCm38) missense possibly damaging 0.48
R0017:Unc13c UTSW 9 73,693,301 (GRCm38) missense probably benign 0.07
R0039:Unc13c UTSW 9 73,669,565 (GRCm38) splice site probably benign
R0164:Unc13c UTSW 9 73,694,892 (GRCm38) missense probably benign 0.01
R0164:Unc13c UTSW 9 73,694,892 (GRCm38) missense probably benign 0.01
R0308:Unc13c UTSW 9 73,481,118 (GRCm38) missense probably benign 0.04
R0344:Unc13c UTSW 9 73,930,785 (GRCm38) missense probably benign 0.39
R0421:Unc13c UTSW 9 73,933,210 (GRCm38) missense possibly damaging 0.76
R0606:Unc13c UTSW 9 73,530,983 (GRCm38) splice site probably benign
R0655:Unc13c UTSW 9 73,930,953 (GRCm38) missense probably damaging 0.96
R1013:Unc13c UTSW 9 73,933,332 (GRCm38) missense probably benign 0.45
R1293:Unc13c UTSW 9 73,574,074 (GRCm38) missense probably benign 0.06
R1493:Unc13c UTSW 9 73,639,068 (GRCm38) missense probably benign 0.27
R1675:Unc13c UTSW 9 73,639,050 (GRCm38) critical splice donor site probably null
R1789:Unc13c UTSW 9 73,756,339 (GRCm38) missense possibly damaging 0.92
R2001:Unc13c UTSW 9 73,483,615 (GRCm38) splice site probably null
R2055:Unc13c UTSW 9 73,736,550 (GRCm38) missense probably damaging 1.00
R2060:Unc13c UTSW 9 73,665,656 (GRCm38) missense probably damaging 0.99
R2420:Unc13c UTSW 9 73,931,547 (GRCm38) missense probably damaging 0.97
R2421:Unc13c UTSW 9 73,931,547 (GRCm38) missense probably damaging 0.97
R2422:Unc13c UTSW 9 73,931,547 (GRCm38) missense probably damaging 0.97
R3415:Unc13c UTSW 9 73,932,586 (GRCm38) missense probably benign 0.00
R3423:Unc13c UTSW 9 73,930,653 (GRCm38) missense possibly damaging 0.46
R3820:Unc13c UTSW 9 73,930,958 (GRCm38) missense probably benign 0.00
R3857:Unc13c UTSW 9 73,699,108 (GRCm38) nonsense probably null
R3859:Unc13c UTSW 9 73,699,108 (GRCm38) nonsense probably null
R3895:Unc13c UTSW 9 73,933,523 (GRCm38) missense probably benign
R4038:Unc13c UTSW 9 73,533,906 (GRCm38) critical splice donor site probably null
R4077:Unc13c UTSW 9 73,736,539 (GRCm38) nonsense probably null
R4125:Unc13c UTSW 9 73,574,007 (GRCm38) critical splice donor site probably null
R4128:Unc13c UTSW 9 73,734,537 (GRCm38) missense probably damaging 1.00
R4235:Unc13c UTSW 9 73,530,952 (GRCm38) missense possibly damaging 0.68
R4295:Unc13c UTSW 9 73,734,504 (GRCm38) missense probably damaging 1.00
R4307:Unc13c UTSW 9 73,693,367 (GRCm38) missense probably benign 0.06
R4658:Unc13c UTSW 9 73,932,826 (GRCm38) missense probably damaging 1.00
R4694:Unc13c UTSW 9 73,572,354 (GRCm38) missense probably benign 0.00
R4735:Unc13c UTSW 9 73,693,338 (GRCm38) missense probably benign 0.00
R4744:Unc13c UTSW 9 73,931,844 (GRCm38) missense probably damaging 1.00
R4795:Unc13c UTSW 9 73,932,187 (GRCm38) missense probably damaging 0.97
R4827:Unc13c UTSW 9 73,931,286 (GRCm38) missense probably damaging 1.00
R4838:Unc13c UTSW 9 73,932,072 (GRCm38) missense possibly damaging 0.68
R4869:Unc13c UTSW 9 73,680,434 (GRCm38) missense probably benign 0.02
R4873:Unc13c UTSW 9 73,517,284 (GRCm38) missense probably damaging 0.98
R4875:Unc13c UTSW 9 73,517,284 (GRCm38) missense probably damaging 0.98
R4876:Unc13c UTSW 9 73,749,539 (GRCm38) missense probably damaging 1.00
R4905:Unc13c UTSW 9 73,680,392 (GRCm38) missense probably benign
R4912:Unc13c UTSW 9 73,574,022 (GRCm38) missense probably damaging 0.99
R5026:Unc13c UTSW 9 73,930,903 (GRCm38) missense possibly damaging 0.74
R5127:Unc13c UTSW 9 73,933,372 (GRCm38) missense probably benign 0.26
R5151:Unc13c UTSW 9 73,931,475 (GRCm38) missense probably benign 0.02
R5171:Unc13c UTSW 9 73,757,954 (GRCm38) missense probably benign
R5244:Unc13c UTSW 9 73,525,951 (GRCm38) critical splice donor site probably null
R5342:Unc13c UTSW 9 73,930,823 (GRCm38) missense probably benign 0.00
R5399:Unc13c UTSW 9 73,749,688 (GRCm38) missense possibly damaging 0.95
R5409:Unc13c UTSW 9 73,578,390 (GRCm38) missense possibly damaging 0.78
R5460:Unc13c UTSW 9 73,545,989 (GRCm38) missense probably benign
R5680:Unc13c UTSW 9 73,932,602 (GRCm38) missense probably damaging 1.00
R5681:Unc13c UTSW 9 73,546,075 (GRCm38) splice site probably null
R5728:Unc13c UTSW 9 73,558,956 (GRCm38) missense probably benign 0.01
R5762:Unc13c UTSW 9 73,812,367 (GRCm38) missense probably benign 0.00
R5764:Unc13c UTSW 9 73,533,903 (GRCm38) splice site probably null
R5829:Unc13c UTSW 9 73,693,368 (GRCm38) missense probably benign 0.15
R5894:Unc13c UTSW 9 73,693,204 (GRCm38) critical splice donor site probably null
R5936:Unc13c UTSW 9 73,578,492 (GRCm38) missense probably damaging 1.00
R6043:Unc13c UTSW 9 73,736,651 (GRCm38) missense possibly damaging 0.88
R6046:Unc13c UTSW 9 73,930,884 (GRCm38) missense probably benign
R6148:Unc13c UTSW 9 73,693,366 (GRCm38) missense probably benign 0.15
R6207:Unc13c UTSW 9 73,758,628 (GRCm38) missense possibly damaging 0.89
R6277:Unc13c UTSW 9 73,699,169 (GRCm38) missense probably damaging 1.00
R6338:Unc13c UTSW 9 73,734,447 (GRCm38) missense probably damaging 0.99
R6615:Unc13c UTSW 9 73,930,608 (GRCm38) missense possibly damaging 0.63
R6978:Unc13c UTSW 9 73,931,977 (GRCm38) missense probably benign 0.39
R7053:Unc13c UTSW 9 73,932,297 (GRCm38) missense probably damaging 1.00
R7223:Unc13c UTSW 9 73,629,191 (GRCm38) missense probably benign 0.44
R7259:Unc13c UTSW 9 73,517,363 (GRCm38) missense probably benign 0.00
R7353:Unc13c UTSW 9 73,574,073 (GRCm38) missense probably benign 0.00
R7357:Unc13c UTSW 9 73,933,529 (GRCm38) small insertion probably benign
R7357:Unc13c UTSW 9 73,933,528 (GRCm38) small insertion probably benign
R7607:Unc13c UTSW 9 73,669,535 (GRCm38) missense probably damaging 0.98
R7626:Unc13c UTSW 9 73,734,517 (GRCm38) missense probably damaging 1.00
R7639:Unc13c UTSW 9 73,933,168 (GRCm38) missense probably damaging 0.99
R7657:Unc13c UTSW 9 73,533,903 (GRCm38) splice site probably null
R7665:Unc13c UTSW 9 73,680,474 (GRCm38) missense probably benign 0.28
R7704:Unc13c UTSW 9 73,699,212 (GRCm38) missense probably benign 0.27
R7776:Unc13c UTSW 9 73,694,950 (GRCm38) missense probably damaging 1.00
R7811:Unc13c UTSW 9 73,693,271 (GRCm38) missense possibly damaging 0.46
R7833:Unc13c UTSW 9 73,481,109 (GRCm38) missense possibly damaging 0.53
R7839:Unc13c UTSW 9 73,933,314 (GRCm38) missense possibly damaging 0.63
R7869:Unc13c UTSW 9 73,694,877 (GRCm38) missense probably damaging 1.00
R7924:Unc13c UTSW 9 73,734,408 (GRCm38) missense probably benign 0.05
R8047:Unc13c UTSW 9 73,812,354 (GRCm38) nonsense probably null
R8167:Unc13c UTSW 9 73,736,703 (GRCm38) missense probably damaging 0.99
R8202:Unc13c UTSW 9 73,736,562 (GRCm38) missense probably damaging 1.00
R8210:Unc13c UTSW 9 73,484,938 (GRCm38) missense probably benign 0.13
R8352:Unc13c UTSW 9 73,931,008 (GRCm38) missense probably damaging 0.99
R8368:Unc13c UTSW 9 73,930,788 (GRCm38) missense probably benign 0.15
R8452:Unc13c UTSW 9 73,931,008 (GRCm38) missense probably damaging 0.99
R8535:Unc13c UTSW 9 73,540,371 (GRCm38) missense probably benign
R8677:Unc13c UTSW 9 73,932,961 (GRCm38) missense probably benign 0.00
R8700:Unc13c UTSW 9 73,572,397 (GRCm38) missense probably benign 0.44
R8848:Unc13c UTSW 9 73,525,981 (GRCm38) missense probably benign
R8902:Unc13c UTSW 9 73,749,548 (GRCm38) missense probably damaging 0.97
R8961:Unc13c UTSW 9 73,932,242 (GRCm38) missense probably benign 0.06
R9015:Unc13c UTSW 9 73,546,040 (GRCm38) missense probably benign
R9114:Unc13c UTSW 9 73,812,383 (GRCm38) missense probably benign 0.02
R9217:Unc13c UTSW 9 73,578,433 (GRCm38) missense probably damaging 1.00
R9252:Unc13c UTSW 9 73,517,271 (GRCm38) missense possibly damaging 0.80
R9273:Unc13c UTSW 9 73,932,580 (GRCm38) missense possibly damaging 0.96
R9317:Unc13c UTSW 9 73,540,380 (GRCm38) missense possibly damaging 0.88
R9412:Unc13c UTSW 9 73,932,490 (GRCm38) missense probably benign
R9505:Unc13c UTSW 9 73,931,542 (GRCm38) missense probably benign 0.22
R9516:Unc13c UTSW 9 73,484,938 (GRCm38) missense probably damaging 0.99
R9528:Unc13c UTSW 9 73,930,678 (GRCm38) missense possibly damaging 0.48
R9567:Unc13c UTSW 9 73,629,203 (GRCm38) missense probably damaging 0.99
R9756:Unc13c UTSW 9 73,932,244 (GRCm38) missense probably benign 0.23
R9783:Unc13c UTSW 9 73,484,945 (GRCm38) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- TGGTACACCACACTTTCCACG -3'
(R):5'- CCTGGGGCATAAGAAGCAAATC -3'

Sequencing Primer
(F):5'- ACCACACTTTCCACGTACTCG -3'
(R):5'- ATCATTAGATAGAACTGCCCGG -3'
Posted On 2021-08-31