Incidental Mutation 'R6807:Unc13d'
ID 533619
Institutional Source Beutler Lab
Gene Symbol Unc13d
Ensembl Gene ENSMUSG00000057948
Gene Name unc-13 homolog D
Synonyms Jinx, 2610108D09Rik, Munc13-4
MMRRC Submission 044920-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R6807 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 115952921-115968787 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115957577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 795 (K795E)
Ref Sequence ENSEMBL: ENSMUSP00000102059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075036] [ENSMUST00000106450] [ENSMUST00000106451] [ENSMUST00000173345] [ENSMUST00000174822]
AlphaFold B2RUP2
Predicted Effect probably damaging
Transcript: ENSMUST00000075036
AA Change: K793E

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074549
Gene: ENSMUSG00000057948
AA Change: K793E

DomainStartEndE-ValueType
low complexity region 21 26 N/A INTRINSIC
C2 111 261 5.31e-11 SMART
PDB:3SWH|B 585 735 8e-6 PDB
low complexity region 738 751 N/A INTRINSIC
Pfam:Membr_traf_MHD 785 892 1.9e-25 PFAM
C2 923 1031 7.93e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106450
AA Change: K795E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102058
Gene: ENSMUSG00000057948
AA Change: K795E

DomainStartEndE-ValueType
low complexity region 21 26 N/A INTRINSIC
C2 111 261 5.31e-11 SMART
PDB:3SWH|B 587 737 8e-6 PDB
low complexity region 740 753 N/A INTRINSIC
Pfam:Membr_traf_MHD 787 894 1.9e-25 PFAM
C2 925 1033 7.93e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106451
AA Change: K795E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102059
Gene: ENSMUSG00000057948
AA Change: K795E

DomainStartEndE-ValueType
low complexity region 21 26 N/A INTRINSIC
C2 111 261 5.31e-11 SMART
PDB:3SWH|B 587 737 8e-6 PDB
low complexity region 740 753 N/A INTRINSIC
Pfam:Membr_traf_MHD 788 838 7.1e-10 PFAM
Pfam:Membr_traf_MHD 830 893 1.4e-15 PFAM
C2 925 1033 7.93e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000173345
AA Change: K795E

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133679
Gene: ENSMUSG00000057948
AA Change: K795E

DomainStartEndE-ValueType
low complexity region 21 26 N/A INTRINSIC
C2 111 261 5.31e-11 SMART
PDB:3SWH|B 587 737 5e-6 PDB
low complexity region 740 753 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000174822
AA Change: K793E

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134260
Gene: ENSMUSG00000057948
AA Change: K793E

DomainStartEndE-ValueType
low complexity region 21 26 N/A INTRINSIC
C2 111 261 5.31e-11 SMART
PDB:3SWH|B 585 735 8e-6 PDB
low complexity region 738 751 N/A INTRINSIC
Pfam:Membr_traf_MHD 785 892 1.9e-25 PFAM
C2 923 1031 7.93e-10 SMART
Meta Mutation Damage Score 0.2460 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.9%
Validation Efficiency 100% (72/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted deletion of this gene leads to defective hemostasis, abrogated thrombus formation and protection of homozygotes from ischemic stroke in the absence of intracranial bleeding. Homozygous ENU mutant mice are sensitive to infection by mouse cytomegalovirus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,282,356 (GRCm39) T2158A probably benign Het
Apeh G A 9: 107,969,878 (GRCm39) H186Y probably damaging Het
Apol7a T C 15: 77,277,520 (GRCm39) probably null Het
Bicdl1 C T 5: 115,810,202 (GRCm39) probably null Het
Bop1 T A 15: 76,339,183 (GRCm39) Q362L probably damaging Het
C4b T C 17: 34,949,930 (GRCm39) D1418G probably benign Het
Cdh23 A G 10: 60,214,650 (GRCm39) V1455A possibly damaging Het
Cecr2 T G 6: 120,711,503 (GRCm39) probably null Het
Cer1 T C 4: 82,801,052 (GRCm39) S204G probably benign Het
Cers3 G C 7: 66,413,968 (GRCm39) W15C probably damaging Het
Csn1s2a A T 5: 87,929,731 (GRCm39) H110L probably benign Het
Dnah10 T G 5: 124,867,064 (GRCm39) probably null Het
Dync2h1 T C 9: 7,041,718 (GRCm39) N3315S probably benign Het
Dynlrb2 T C 8: 117,234,299 (GRCm39) M21T probably benign Het
Emilin1 T A 5: 31,072,871 (GRCm39) F103I probably benign Het
Esrra T A 19: 6,889,142 (GRCm39) M416L probably benign Het
Etaa1 C A 11: 17,902,680 (GRCm39) V86L probably benign Het
Extl3 A G 14: 65,314,211 (GRCm39) S324P probably damaging Het
Fam90a1a T C 8: 22,453,368 (GRCm39) V241A probably benign Het
Fat4 C A 3: 39,036,589 (GRCm39) Q3414K probably benign Het
Gpr162 C T 6: 124,838,164 (GRCm39) R162H probably damaging Het
Gpr21 T A 2: 37,407,974 (GRCm39) Y173* probably null Het
Gprc6a G A 10: 51,502,841 (GRCm39) Q341* probably null Het
Herc2 T A 7: 55,814,670 (GRCm39) S2674R probably damaging Het
Hnrnpdl A T 5: 100,186,995 (GRCm39) H9Q probably null Het
Hps1 A G 19: 42,759,217 (GRCm39) V125A possibly damaging Het
Iba57 G T 11: 59,049,440 (GRCm39) P243H probably damaging Het
Incenp G T 19: 9,855,120 (GRCm39) A597E unknown Het
Kat6a T A 8: 23,430,384 (GRCm39) M1913K unknown Het
Klb G A 5: 65,536,877 (GRCm39) V736M probably damaging Het
Krt33a T A 11: 99,903,209 (GRCm39) T278S possibly damaging Het
Krt73 T G 15: 101,704,842 (GRCm39) E348A probably damaging Het
Lig3 T A 11: 82,674,577 (GRCm39) D134E probably benign Het
Limd2 T C 11: 106,049,771 (GRCm39) T73A probably benign Het
Lrpprc A G 17: 85,056,531 (GRCm39) S787P possibly damaging Het
Macf1 A G 4: 123,268,208 (GRCm39) M6735T probably damaging Het
Mapkbp1 C A 2: 119,851,640 (GRCm39) Q861K probably damaging Het
Mc4r T A 18: 66,992,927 (GRCm39) N62I probably damaging Het
Metap1d G A 2: 71,341,858 (GRCm39) V151I probably damaging Het
Nek2 T C 1: 191,554,729 (GRCm39) V147A probably damaging Het
Nlrp1b A T 11: 71,108,530 (GRCm39) W324R probably damaging Het
Nol4l G T 2: 153,325,746 (GRCm39) S113* probably null Het
Oc90 T A 15: 65,761,463 (GRCm39) D185V probably damaging Het
Or2a52 T C 6: 43,144,172 (GRCm39) F60S probably damaging Het
Or2v1 G A 11: 49,025,805 (GRCm39) R262K probably damaging Het
Or4a71 G A 2: 89,357,932 (GRCm39) T274M probably damaging Het
Or5m13 A T 2: 85,748,382 (GRCm39) T38S possibly damaging Het
Or5p51 T A 7: 107,444,797 (GRCm39) T48S possibly damaging Het
Or8g50 A T 9: 39,648,914 (GRCm39) K268* probably null Het
Pcdha8 A G 18: 37,127,401 (GRCm39) T628A probably damaging Het
Pcsk5 A T 19: 17,549,986 (GRCm39) probably null Het
Pdgfrb T C 18: 61,211,721 (GRCm39) probably null Het
Pgm3 A T 9: 86,438,555 (GRCm39) probably null Het
Pin1rt1 T A 2: 104,545,063 (GRCm39) Y23F probably benign Het
Poli T A 18: 70,663,222 (GRCm39) probably null Het
Pom121 C A 5: 135,409,978 (GRCm39) probably benign Het
Ppp2r5c A G 12: 110,535,456 (GRCm39) D407G possibly damaging Het
Pramel28 A G 4: 143,691,581 (GRCm39) S381P probably damaging Het
Rgs12 A G 5: 35,180,515 (GRCm39) D116G probably null Het
Serpina3b A T 12: 104,099,251 (GRCm39) E255D probably benign Het
Sft2d1rt T C 11: 45,942,859 (GRCm39) Q88R probably damaging Het
Slc46a1 A G 11: 78,357,790 (GRCm39) H281R probably damaging Het
Spata6 T C 4: 111,642,012 (GRCm39) I294T probably benign Het
Srgap1 T A 10: 121,664,631 (GRCm39) probably null Het
Stag1 C T 9: 100,826,903 (GRCm39) R957C probably damaging Het
Stk35 G A 2: 129,643,573 (GRCm39) E186K probably damaging Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tenm4 G A 7: 96,544,478 (GRCm39) V2165I probably damaging Het
Tmem53 T C 4: 117,125,528 (GRCm39) S207P probably benign Het
Ugt2a3 A G 5: 87,484,617 (GRCm39) F136L probably benign Het
Zbtb11 C A 16: 55,810,865 (GRCm39) T341K probably benign Het
Other mutations in Unc13d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00711:Unc13d APN 11 115,965,229 (GRCm39) missense probably damaging 0.99
IGL00976:Unc13d APN 11 115,961,293 (GRCm39) missense probably damaging 1.00
IGL01630:Unc13d APN 11 115,964,692 (GRCm39) missense probably benign 0.00
IGL01761:Unc13d APN 11 115,964,695 (GRCm39) missense probably damaging 1.00
IGL01772:Unc13d APN 11 115,967,358 (GRCm39) missense possibly damaging 0.91
IGL01935:Unc13d APN 11 115,960,577 (GRCm39) missense probably benign
IGL02486:Unc13d APN 11 115,960,632 (GRCm39) splice site probably benign
IGL02503:Unc13d APN 11 115,959,628 (GRCm39) missense possibly damaging 0.82
IGL02519:Unc13d APN 11 115,961,359 (GRCm39) missense probably damaging 1.00
IGL02524:Unc13d APN 11 115,961,145 (GRCm39) missense probably damaging 1.00
IGL02634:Unc13d APN 11 115,961,382 (GRCm39) splice site probably benign
IGL02636:Unc13d APN 11 115,964,444 (GRCm39) missense probably damaging 1.00
IGL03243:Unc13d APN 11 115,958,670 (GRCm39) missense probably benign 0.34
jinx UTSW 11 115,964,249 (GRCm39) unclassified probably benign
R0033:Unc13d UTSW 11 115,959,991 (GRCm39) missense probably benign 0.00
R0084:Unc13d UTSW 11 115,954,657 (GRCm39) missense probably damaging 1.00
R0122:Unc13d UTSW 11 115,956,308 (GRCm39) missense probably benign 0.00
R0422:Unc13d UTSW 11 115,960,846 (GRCm39) critical splice donor site probably null
R0666:Unc13d UTSW 11 115,960,318 (GRCm39) splice site probably benign
R1019:Unc13d UTSW 11 115,958,900 (GRCm39) missense probably benign 0.03
R1333:Unc13d UTSW 11 115,964,381 (GRCm39) splice site probably benign
R1484:Unc13d UTSW 11 115,964,701 (GRCm39) missense possibly damaging 0.72
R1594:Unc13d UTSW 11 115,959,538 (GRCm39) missense probably benign 0.04
R1597:Unc13d UTSW 11 115,965,262 (GRCm39) missense probably benign 0.02
R1603:Unc13d UTSW 11 115,964,481 (GRCm39) missense possibly damaging 0.86
R1662:Unc13d UTSW 11 115,959,499 (GRCm39) missense probably null 1.00
R1909:Unc13d UTSW 11 115,961,121 (GRCm39) missense probably damaging 0.99
R2015:Unc13d UTSW 11 115,959,581 (GRCm39) missense probably damaging 1.00
R2313:Unc13d UTSW 11 115,954,560 (GRCm39) missense probably damaging 1.00
R2435:Unc13d UTSW 11 115,959,514 (GRCm39) missense probably damaging 1.00
R4705:Unc13d UTSW 11 115,964,214 (GRCm39) missense possibly damaging 0.70
R4732:Unc13d UTSW 11 115,964,408 (GRCm39) missense possibly damaging 0.91
R4733:Unc13d UTSW 11 115,964,408 (GRCm39) missense possibly damaging 0.91
R4792:Unc13d UTSW 11 115,961,108 (GRCm39) missense probably damaging 1.00
R4843:Unc13d UTSW 11 115,965,085 (GRCm39) missense probably damaging 1.00
R5496:Unc13d UTSW 11 115,957,534 (GRCm39) missense probably damaging 1.00
R5571:Unc13d UTSW 11 115,954,480 (GRCm39) missense probably benign 0.00
R5589:Unc13d UTSW 11 115,960,579 (GRCm39) missense probably damaging 0.99
R5838:Unc13d UTSW 11 115,955,451 (GRCm39) missense possibly damaging 0.80
R6058:Unc13d UTSW 11 115,964,394 (GRCm39) critical splice donor site probably null
R6266:Unc13d UTSW 11 115,959,064 (GRCm39) missense probably damaging 1.00
R7085:Unc13d UTSW 11 115,955,633 (GRCm39) missense probably benign 0.07
R7098:Unc13d UTSW 11 115,954,552 (GRCm39) missense probably damaging 1.00
R7269:Unc13d UTSW 11 115,959,056 (GRCm39) missense probably benign 0.01
R7291:Unc13d UTSW 11 115,964,876 (GRCm39) missense possibly damaging 0.79
R7453:Unc13d UTSW 11 115,958,697 (GRCm39) missense probably benign
R7486:Unc13d UTSW 11 115,965,259 (GRCm39) missense possibly damaging 0.68
R7618:Unc13d UTSW 11 115,957,547 (GRCm39) missense probably damaging 1.00
R7817:Unc13d UTSW 11 115,967,109 (GRCm39) missense probably damaging 1.00
R8290:Unc13d UTSW 11 115,958,973 (GRCm39) missense probably damaging 0.97
R8442:Unc13d UTSW 11 115,958,657 (GRCm39) missense probably damaging 0.99
R8817:Unc13d UTSW 11 115,958,998 (GRCm39) small insertion probably benign
R8818:Unc13d UTSW 11 115,958,998 (GRCm39) small insertion probably benign
R8820:Unc13d UTSW 11 115,958,998 (GRCm39) small insertion probably benign
R8821:Unc13d UTSW 11 115,958,998 (GRCm39) small insertion probably benign
R8858:Unc13d UTSW 11 115,953,618 (GRCm39) missense probably damaging 1.00
R9031:Unc13d UTSW 11 115,958,998 (GRCm39) small insertion probably benign
R9066:Unc13d UTSW 11 115,957,561 (GRCm39) missense probably benign 0.07
R9084:Unc13d UTSW 11 115,958,998 (GRCm39) small insertion probably benign
R9085:Unc13d UTSW 11 115,958,998 (GRCm39) small insertion probably benign
R9258:Unc13d UTSW 11 115,959,007 (GRCm39) small insertion probably benign
R9258:Unc13d UTSW 11 115,958,998 (GRCm39) small insertion probably benign
R9259:Unc13d UTSW 11 115,958,998 (GRCm39) small insertion probably benign
R9260:Unc13d UTSW 11 115,958,998 (GRCm39) small insertion probably benign
R9396:Unc13d UTSW 11 115,966,529 (GRCm39) critical splice donor site probably null
R9612:Unc13d UTSW 11 115,961,144 (GRCm39) nonsense probably null
R9648:Unc13d UTSW 11 115,958,998 (GRCm39) small insertion probably benign
R9649:Unc13d UTSW 11 115,958,998 (GRCm39) small insertion probably benign
R9650:Unc13d UTSW 11 115,958,998 (GRCm39) small insertion probably benign
X0027:Unc13d UTSW 11 115,960,582 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTTAGAGCTGGGCAGAAG -3'
(R):5'- CACAAAAGCTAGCTTTGTTCCC -3'

Sequencing Primer
(F):5'- GAAGCTGGTTACATCCTCCAAGG -3'
(R):5'- ACAAAAGCTAGCTTTGTTCCCTTACC -3'
Posted On 2018-09-12