Incidental Mutation 'R7817:Unc13d'
ID 601604
Institutional Source Beutler Lab
Gene Symbol Unc13d
Ensembl Gene ENSMUSG00000057948
Gene Name unc-13 homolog D
Synonyms Jinx, 2610108D09Rik, Munc13-4
MMRRC Submission 045871-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R7817 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 115952921-115968787 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115967109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 91 (V91D)
Ref Sequence ENSEMBL: ENSMUSP00000115327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074628] [ENSMUST00000075036] [ENSMUST00000106444] [ENSMUST00000106450] [ENSMUST00000106451] [ENSMUST00000153408] [ENSMUST00000156545] [ENSMUST00000174822] [ENSMUST00000173345]
AlphaFold B2RUP2
Predicted Effect probably benign
Transcript: ENSMUST00000074628
SMART Domains Protein: ENSMUSP00000074204
Gene: ENSMUSG00000034341

DomainStartEndE-ValueType
Pfam:GRAM 1 84 1.2e-19 PFAM
Pfam:WWbp 100 204 1.3e-20 PFAM
low complexity region 247 255 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000075036
AA Change: V102D

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074549
Gene: ENSMUSG00000057948
AA Change: V102D

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 benign
Transcript: ENSMUST00000106444
SMART Domains Protein: ENSMUSP00000102052
Gene: ENSMUSG00000034341

DomainStartEndE-ValueType
Pfam:GRAM 1 84 2.3e-19 PFAM
Pfam:WWbp 100 212 5.3e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106450
AA Change: V102D

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102058
Gene: ENSMUSG00000057948
AA Change: V102D

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 possibly damaging
Transcript: ENSMUST00000106451
AA Change: V102D

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102059
Gene: ENSMUSG00000057948
AA Change: V102D

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: ENSMUST00000153408
AA Change: V91D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115327
Gene: ENSMUSG00000057948
AA Change: V91D

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156545
SMART Domains Protein: ENSMUSP00000118266
Gene: ENSMUSG00000057948

DomainStartEndE-ValueType
low complexity region 21 26 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000174822
AA Change: V102D

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134260
Gene: ENSMUSG00000057948
AA Change: V102D

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: ENSMUST00000173345
AA Change: V102D

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133679
Gene: ENSMUSG00000057948
AA Change: V102D

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 96% (45/47)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 T C 7: 66,559,224 (GRCm39) V338A probably damaging Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
BC005537 C T 13: 24,987,382 (GRCm39) R7W possibly damaging Het
Bivm G T 1: 44,165,561 (GRCm39) A4S probably benign Het
Cacng3 G A 7: 122,367,822 (GRCm39) R234Q probably damaging Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cftr A G 6: 18,267,967 (GRCm39) D642G probably damaging Het
Cltc A G 11: 86,615,949 (GRCm39) V443A probably damaging Het
Csmd3 C T 15: 47,721,356 (GRCm39) R1425H probably damaging Het
Cttnbp2 G C 6: 18,426,092 (GRCm39) A762G possibly damaging Het
Dscam T C 16: 96,442,064 (GRCm39) T1588A probably benign Het
Gabra4 A G 5: 71,798,206 (GRCm39) M207T probably damaging Het
Galnt3 A G 2: 65,926,243 (GRCm39) Y322H probably damaging Het
Glud1 A T 14: 34,051,244 (GRCm39) probably null Het
Gm47189 A G 14: 41,492,011 (GRCm39) Y89H probably damaging Het
Klhl1 A T 14: 96,374,186 (GRCm39) M620K possibly damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Mocs2 A G 13: 114,957,382 (GRCm39) E62G probably damaging Het
Myh7 C G 14: 55,226,258 (GRCm39) D461H probably damaging Het
Nek10 C T 14: 15,001,017 (GRCm38) P1066S probably benign Het
Nfxl1 T C 5: 72,671,632 (GRCm39) K876E possibly damaging Het
Nipsnap3a T A 4: 52,997,279 (GRCm39) F182I probably damaging Het
Nlrc3 C T 16: 3,783,327 (GRCm39) G60S possibly damaging Het
Notch2 T C 3: 98,014,443 (GRCm39) Y666H probably damaging Het
Or9m1b T C 2: 87,836,355 (GRCm39) I247V probably benign Het
Pars2 T A 4: 106,511,276 (GRCm39) Y353N probably damaging Het
Pcdhb11 A G 18: 37,556,962 (GRCm39) E764G probably damaging Het
Pcdhb3 T A 18: 37,435,982 (GRCm39) D649E probably benign Het
Pde7b T G 10: 20,319,051 (GRCm39) R90S probably damaging Het
Pik3r5 T C 11: 68,384,483 (GRCm39) V625A probably damaging Het
Prdm9 G A 17: 15,779,311 (GRCm39) R113W probably damaging Het
Psg26 A G 7: 18,216,572 (GRCm39) V89A not run Het
Rad1 T C 15: 10,493,404 (GRCm39) V277A probably benign Het
Rb1 A T 14: 73,435,983 (GRCm39) L894Q probably damaging Het
Rorb A T 19: 18,965,460 (GRCm39) C10S probably damaging Het
Ryk C T 9: 102,768,432 (GRCm39) Q361* probably null Het
Serpina3b A G 12: 104,099,223 (GRCm39) N246S probably benign Het
Srr A G 11: 74,799,524 (GRCm39) V317A possibly damaging Het
Timd2 A T 11: 46,561,781 (GRCm39) C288S probably benign Het
Tomm70a C T 16: 56,965,136 (GRCm39) A440V probably damaging Het
Trim62 T C 4: 128,794,478 (GRCm39) V215A probably benign Het
Trio C G 15: 27,749,952 (GRCm39) V2250L probably benign Het
Ubr5 G A 15: 37,980,076 (GRCm39) A2434V probably null Het
Vmn1r159 T A 7: 22,542,487 (GRCm39) I182F possibly damaging Het
Vmn1r230 T A 17: 21,066,823 (GRCm39) V4D probably benign Het
Zfp27 T C 7: 29,595,815 (GRCm39) Y50C possibly damaging Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,706,067 (GRCm39) probably benign Het
Zfp518b T C 5: 38,829,741 (GRCm39) I755V not run 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
R6807:Unc13d UTSW 11 115,957,577 (GRCm39) missense probably damaging 0.98
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
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'- TCAAGGCCAGATTATGATGGGG -3'
(R):5'- GCTATCTGCAGGAGGTAAACC -3'

Sequencing Primer
(F):5'- GGAGGTTTTCAGGGACACC -3'
(R):5'- TGCAGGAGGTAAACCCAGCC -3'
Posted On 2019-12-03