Incidental Mutation 'R1333:Unc13d'
ID 156788
Institutional Source Beutler Lab
Gene Symbol Unc13d
Ensembl Gene ENSMUSG00000057948
Gene Name unc-13 homolog D
Synonyms Jinx, 2610108D09Rik, Munc13-4
MMRRC Submission 039398-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R1333 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 115952921-115968787 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 115964381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075036] [ENSMUST00000106450] [ENSMUST00000106451] [ENSMUST00000153408] [ENSMUST00000156545] [ENSMUST00000173345] [ENSMUST00000174822]
AlphaFold B2RUP2
Predicted Effect probably benign
Transcript: ENSMUST00000075036
SMART Domains Protein: ENSMUSP00000074549
Gene: ENSMUSG00000057948

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: ENSMUST00000106450
SMART Domains Protein: ENSMUSP00000102058
Gene: ENSMUSG00000057948

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 benign
Transcript: ENSMUST00000106451
SMART Domains Protein: ENSMUSP00000102059
Gene: ENSMUSG00000057948

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 benign
Transcript: ENSMUST00000153408
SMART Domains Protein: ENSMUSP00000115327
Gene: ENSMUSG00000057948

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155120
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 benign
Transcript: ENSMUST00000173345
SMART Domains Protein: ENSMUSP00000133679
Gene: ENSMUSG00000057948

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 benign
Transcript: ENSMUST00000174822
SMART Domains Protein: ENSMUSP00000134260
Gene: ENSMUSG00000057948

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 noncoding transcript
Transcript: ENSMUST00000173943
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 90.3%
Validation Efficiency 98% (41/42)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 A G 8: 114,431,805 (GRCm39) probably benign Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Amt A G 9: 108,178,296 (GRCm39) D301G probably benign Het
Arhgef26 T C 3: 62,247,744 (GRCm39) V276A probably benign Het
Bid C T 6: 120,874,216 (GRCm39) A110T possibly damaging Het
Ccdc63 T C 5: 122,246,224 (GRCm39) T566A probably benign Het
Cdk5rap1 A G 2: 154,202,574 (GRCm39) S219P probably damaging Het
Col1a2 T A 6: 4,515,684 (GRCm39) probably null Het
Ctns G A 11: 73,075,823 (GRCm39) T342I probably benign Het
Dst G A 1: 34,267,428 (GRCm39) E4957K probably damaging Het
Elp1 C T 4: 56,770,969 (GRCm39) probably benign Het
Fam163b A G 2: 27,003,659 (GRCm39) probably benign Het
Frem2 T C 3: 53,457,152 (GRCm39) T2067A probably benign Het
Gm7353 C T 7: 3,159,066 (GRCm39) noncoding transcript Het
Gm9791 T C 3: 34,059,225 (GRCm39) noncoding transcript Het
Grik2 G T 10: 49,404,087 (GRCm39) T258N probably damaging Het
Herc3 T C 6: 58,864,478 (GRCm39) L704P probably damaging Het
Hjurp A C 1: 88,193,768 (GRCm39) V380G probably damaging Het
Lrrc56 A G 7: 140,778,177 (GRCm39) probably benign Het
Mast3 G A 8: 71,233,938 (GRCm39) P187S probably damaging Het
Mier2 A G 10: 79,380,991 (GRCm39) V231A probably benign Het
Muc5b A G 7: 141,422,144 (GRCm39) T4427A possibly damaging Het
Nox4 A G 7: 86,896,072 (GRCm39) S7G possibly damaging Het
Obscn G C 11: 58,971,143 (GRCm39) Q2457E probably damaging Het
Sh3bgrl2 C T 9: 83,459,684 (GRCm39) probably benign Het
Slc1a1 A G 19: 28,812,611 (GRCm39) probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Stat6 G C 10: 127,487,094 (GRCm39) R200S possibly damaging Het
Stxbp5l C A 16: 37,068,231 (GRCm39) probably null Het
Tanc1 A G 2: 59,673,835 (GRCm39) S1647G probably benign Het
Tmem132d T A 5: 127,861,923 (GRCm39) M733L probably benign Het
Usp24 T C 4: 106,199,550 (GRCm39) S165P possibly damaging Het
Vmn1r9 T C 6: 57,048,615 (GRCm39) I230T probably damaging Het
Zscan20 T C 4: 128,481,889 (GRCm39) D591G possibly damaging 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
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
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'- AGAGTTGTGCTTTAAGCTGCCACC -3'
(R):5'- TCATTCACAAGAGGGTAGGTCAGGG -3'

Sequencing Primer
(F):5'- AGACAGAGATGTCCCCTCG -3'
(R):5'- GGCTCCATCATCTTTGATTGATAAGC -3'
Posted On 2014-02-11