Incidental Mutation 'IGL01935:Unc13d'
ID 180609
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Unc13d
Ensembl Gene ENSMUSG00000057948
Gene Name unc-13 homolog D
Synonyms Jinx, 2610108D09Rik, Munc13-4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # IGL01935
Quality Score
Status
Chromosome 11
Chromosomal Location 115952921-115968787 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115960577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 496 (M496V)
Ref Sequence ENSEMBL: ENSMUSP00000134260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075036] [ENSMUST00000106450] [ENSMUST00000106451] [ENSMUST00000173345] [ENSMUST00000174822]
AlphaFold B2RUP2
Predicted Effect probably benign
Transcript: ENSMUST00000075036
AA Change: M496V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000074549
Gene: ENSMUSG00000057948
AA Change: M496V

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
AA Change: M498V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102058
Gene: ENSMUSG00000057948
AA Change: M498V

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
AA Change: M498V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102059
Gene: ENSMUSG00000057948
AA Change: M498V

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: ENSMUST00000173345
AA Change: M498V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133679
Gene: ENSMUSG00000057948
AA Change: M498V

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 noncoding transcript
Transcript: ENSMUST00000173943
Predicted Effect probably benign
Transcript: ENSMUST00000174822
AA Change: M496V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134260
Gene: ENSMUSG00000057948
AA Change: M496V

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
Coding Region Coverage
Validation Efficiency
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 C T 6: 140,583,383 (GRCm39) probably benign Het
Akr1c12 A T 13: 4,322,244 (GRCm39) V266E probably damaging Het
Arhgef1 A G 7: 24,621,307 (GRCm39) T186A probably damaging Het
Atp8b5 A G 4: 43,366,638 (GRCm39) T801A probably benign Het
Card11 T A 5: 140,869,301 (GRCm39) I832F possibly damaging Het
Catsperg1 T C 7: 28,895,296 (GRCm39) probably null Het
Ccdc180 A G 4: 45,906,889 (GRCm39) T455A possibly damaging Het
Cfhr1 T A 1: 139,478,740 (GRCm39) Y210F probably benign Het
Chrna5 T C 9: 54,912,127 (GRCm39) V309A probably benign Het
Clstn2 A G 9: 97,345,521 (GRCm39) V609A probably damaging Het
Dnah6 T C 6: 73,037,126 (GRCm39) D3372G probably benign Het
Dtymk T C 1: 93,722,465 (GRCm39) K113E probably benign Het
Eef2k T C 7: 120,485,054 (GRCm39) F307S probably damaging Het
Flnc T A 6: 29,454,279 (GRCm39) V1864E probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Herc2 A G 7: 55,803,541 (GRCm39) Y2192C probably benign Het
Hkdc1 A T 10: 62,236,165 (GRCm39) V459E probably damaging Het
Iqsec3 T C 6: 121,360,951 (GRCm39) D969G probably damaging Het
Irf3 A G 7: 44,650,194 (GRCm39) T237A probably benign Het
Jade2 G A 11: 51,719,211 (GRCm39) T245I possibly damaging Het
Kctd8 A G 5: 69,497,707 (GRCm39) I313T possibly damaging Het
Kdm5a T A 6: 120,385,284 (GRCm39) S835R probably benign Het
Lama2 A C 10: 27,298,600 (GRCm39) H165Q probably damaging Het
Lrp1b T A 2: 41,158,367 (GRCm39) N1617Y probably damaging Het
Mcc C T 18: 44,652,583 (GRCm39) probably null Het
Mfsd14b T A 13: 65,215,739 (GRCm39) M405L probably benign Het
Myom3 T A 4: 135,515,692 (GRCm39) F794I probably damaging Het
Napsa G T 7: 44,236,046 (GRCm39) A362S probably benign Het
Ncf4 A T 15: 78,140,186 (GRCm39) D195V probably damaging Het
Or11g1 T C 14: 50,651,012 (GRCm39) F4L probably benign Het
Pank4 T G 4: 155,063,987 (GRCm39) D659E probably damaging Het
Pcnx1 T A 12: 81,964,590 (GRCm39) D252E probably benign Het
Pglyrp2 G A 17: 32,637,551 (GRCm39) A159V probably benign Het
Phaf1 T C 8: 105,966,633 (GRCm39) F127L probably damaging Het
Pisd C A 5: 32,896,476 (GRCm39) probably null Het
Ppfia4 A G 1: 134,245,674 (GRCm39) S627P probably benign Het
Ppp1r15b T C 1: 133,059,761 (GRCm39) F93L probably benign Het
Pramel13 C T 4: 144,119,172 (GRCm39) probably benign Het
Qrfpr A T 3: 36,235,200 (GRCm39) probably null Het
Rapgef4 C A 2: 72,064,467 (GRCm39) T623K probably benign Het
Rapgef6 A G 11: 54,501,668 (GRCm39) T184A possibly damaging Het
Ssrp1 T C 2: 84,877,056 (GRCm39) *709Q probably null Het
St7 T G 6: 17,930,822 (GRCm39) I442S probably damaging Het
Syne2 T A 12: 75,972,087 (GRCm39) H992Q probably damaging Het
Syt14 T C 1: 192,615,679 (GRCm39) R436G probably damaging Het
Tbc1d5 A G 17: 51,270,793 (GRCm39) probably benign Het
Thsd7a T A 6: 12,317,418 (GRCm39) N1630I probably damaging Het
Tinagl1 T C 4: 130,061,794 (GRCm39) K180R probably damaging Het
Tmed7 T C 18: 46,730,190 (GRCm39) T54A probably benign Het
Tmprss2 A T 16: 97,379,795 (GRCm39) Y48* probably null Het
Tns2 C T 15: 102,020,069 (GRCm39) probably null Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zbtb39 A G 10: 127,578,235 (GRCm39) T270A probably benign Het
Zfr T C 15: 12,180,798 (GRCm39) S976P probably benign Het
Zscan29 A G 2: 121,000,538 (GRCm39) F23S probably 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
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
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
Posted On 2014-05-07