Incidental Mutation 'IGL00976:Unc13d'
| ID |
28649 |
| 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)
|
| Stock # |
IGL00976
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
115952921-115968787 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115961293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 378
(E378G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134260
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075036]
[ENSMUST00000106450]
[ENSMUST00000106451]
[ENSMUST00000173345]
[ENSMUST00000174822]
|
| AlphaFold |
B2RUP2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075036
AA Change: E378G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074549
Gene: ENSMUSG00000057948
AA Change: E378G
| Domain | Start | End | E-Value | Type |
|---|
|
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: E378G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102058
Gene: ENSMUSG00000057948
AA Change: E378G
| Domain | Start | End | E-Value | Type |
|---|
|
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: E378G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102059
Gene: ENSMUSG00000057948
AA Change: E378G
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
noncoding transcript
Transcript: ENSMUST00000155120
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173345
AA Change: E378G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133679
Gene: ENSMUSG00000057948
AA Change: E378G
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000174822
AA Change: E378G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134260
Gene: ENSMUSG00000057948
AA Change: E378G
| Domain | Start | End | E-Value | Type |
|---|
|
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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519F16Rik |
A |
G |
X: 102,226,868 (GRCm39) |
|
probably benign |
Het |
| Aldob |
C |
A |
4: 49,541,220 (GRCm39) |
V151L |
probably damaging |
Het |
| Cacna1i |
G |
A |
15: 80,239,846 (GRCm39) |
M298I |
probably benign |
Het |
| Capn3 |
A |
G |
2: 120,322,382 (GRCm39) |
N414S |
possibly damaging |
Het |
| Ccdc186 |
G |
A |
19: 56,785,932 (GRCm39) |
T701M |
probably damaging |
Het |
| Ccdc190 |
A |
T |
1: 169,761,309 (GRCm39) |
H137L |
probably benign |
Het |
| Clhc1 |
G |
A |
11: 29,511,389 (GRCm39) |
D278N |
probably benign |
Het |
| Cntnap3 |
T |
C |
13: 64,942,166 (GRCm39) |
Y188C |
probably damaging |
Het |
| Dnah1 |
A |
C |
14: 31,000,095 (GRCm39) |
V2466G |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 31,070,684 (GRCm39) |
T4457A |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,487,169 (GRCm39) |
Q3388R |
probably benign |
Het |
| Hecw1 |
T |
A |
13: 14,493,557 (GRCm39) |
D316V |
probably damaging |
Het |
| Il1rap |
T |
C |
16: 26,517,589 (GRCm39) |
V263A |
probably benign |
Het |
| Il6 |
G |
A |
5: 30,219,839 (GRCm39) |
G72S |
probably benign |
Het |
| Katnal2 |
T |
C |
18: 77,105,189 (GRCm39) |
Y86C |
probably damaging |
Het |
| Kdm7a |
G |
T |
6: 39,121,332 (GRCm39) |
S874R |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,171,741 (GRCm39) |
|
probably null |
Het |
| Nphs1 |
T |
G |
7: 30,160,110 (GRCm39) |
S130A |
possibly damaging |
Het |
| Ntrk3 |
C |
T |
7: 78,100,701 (GRCm39) |
V444I |
probably benign |
Het |
| Numbl |
T |
C |
7: 26,968,235 (GRCm39) |
V144A |
possibly damaging |
Het |
| Or8g33 |
T |
A |
9: 39,337,953 (GRCm39) |
Y138F |
probably benign |
Het |
| P2rx1 |
T |
C |
11: 72,903,826 (GRCm39) |
|
probably null |
Het |
| Pcdhb3 |
G |
A |
18: 37,436,001 (GRCm39) |
V656I |
probably benign |
Het |
| Pole |
A |
G |
5: 110,471,438 (GRCm39) |
Y1394C |
probably benign |
Het |
| Pramel24 |
T |
A |
4: 143,453,585 (GRCm39) |
M231K |
probably damaging |
Het |
| Rbm47 |
A |
G |
5: 66,184,081 (GRCm39) |
V174A |
possibly damaging |
Het |
| Rhox4f |
T |
C |
X: 36,786,048 (GRCm39) |
|
probably benign |
Het |
| Serpina12 |
T |
C |
12: 103,998,787 (GRCm39) |
Y317C |
probably damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,821,224 (GRCm39) |
I236N |
probably damaging |
Het |
| Slc4a4 |
G |
A |
5: 89,102,657 (GRCm39) |
G32R |
probably damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,752,908 (GRCm39) |
|
probably null |
Het |
| Sorcs3 |
A |
T |
19: 48,755,542 (GRCm39) |
N894I |
probably damaging |
Het |
| Stk38l |
A |
G |
6: 146,676,900 (GRCm39) |
E393G |
probably benign |
Het |
| Synpo |
A |
G |
18: 60,736,491 (GRCm39) |
I485T |
possibly damaging |
Het |
| Tenm3 |
T |
A |
8: 48,709,876 (GRCm39) |
M1687L |
probably benign |
Het |
| Ttc39c |
T |
C |
18: 12,817,952 (GRCm39) |
|
probably benign |
Het |
| Vmn2r118 |
T |
A |
17: 55,900,204 (GRCm39) |
N567Y |
probably damaging |
Het |
|
| Other mutations in Unc13d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00711:Unc13d
|
APN |
11 |
115,965,229 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation