Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01772:Unc13d'

153697

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 #

IGL01772

Quality Score

Status

Chromosome

Chromosomal Location

115952921-115968787 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115967358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 45 (E45D)

Ref Sequence

ENSEMBL: ENSMUSP00000115327 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074628] [ENSMUST00000075036] [ENSMUST00000106444] [ENSMUST00000106450] [ENSMUST00000106451] [ENSMUST00000153408] [ENSMUST00000173345] [ENSMUST00000174822] [ENSMUST00000156545]

AlphaFold

B2RUP2

Predicted Effect

probably benign
Transcript: ENSMUST00000074628

SMART Domains

Protein: ENSMUSP00000074204
Gene: ENSMUSG00000034341

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000075036
AA Change: E56D

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000074549
Gene: ENSMUSG00000057948
AA Change: E56D

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 benign
Transcript: ENSMUST00000106444

SMART Domains

Protein: ENSMUSP00000102052
Gene: ENSMUSG00000034341

Domain	Start	End	E-Value	Type
Pfam:GRAM	1	84	2.3e-19	PFAM
Pfam:WWbp	100	212	5.3e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106450
AA Change: E56D

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102058
Gene: ENSMUSG00000057948
AA Change: E56D

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

possibly damaging
Transcript: ENSMUST00000106451
AA Change: E56D

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102059
Gene: ENSMUSG00000057948
AA Change: E56D

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: ENSMUST00000145278

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153408
AA Change: E45D

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115327
Gene: ENSMUSG00000057948
AA Change: E45D

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173345
AA Change: E56D

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133679
Gene: ENSMUSG00000057948
AA Change: E56D

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

possibly damaging
Transcript: ENSMUST00000174822
AA Change: E56D

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134260
Gene: ENSMUSG00000057948
AA Change: E56D

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

possibly damaging
Transcript: ENSMUST00000156545
AA Change: E56D

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118266
Gene: ENSMUSG00000057948
AA Change: E56D

Domain	Start	End	E-Value	Type
low complexity region	21	26	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155120

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	C	T	11: 58,313,710 (GRCm39)	P113S	probably benign	Het
Ano2	T	C	6: 126,013,821 (GRCm39)	Y881H	probably damaging	Het
Coro2b	G	T	9: 62,333,090 (GRCm39)	P131T	probably damaging	Het
Glra3	A	G	8: 56,542,090 (GRCm39)	I278V	probably benign	Het
Grin2d	T	C	7: 45,507,890 (GRCm39)	D392G	probably benign	Het
Ifrd2	A	G	9: 107,469,331 (GRCm39)	S360G	probably benign	Het
Kdelr3	A	T	15: 79,407,121 (GRCm39)		probably benign	Het
Mtdh	T	A	15: 34,140,027 (GRCm39)	S345R	probably damaging	Het
Mtrex	A	G	13: 113,027,859 (GRCm39)	F667S	probably benign	Het
Ncor1	G	A	11: 62,240,173 (GRCm39)		probably benign	Het
Nf1	T	A	11: 79,281,075 (GRCm39)	V110D	probably damaging	Het
Nlk	T	A	11: 78,480,201 (GRCm39)	H256L	probably damaging	Het
Or52w1	A	T	7: 105,017,641 (GRCm39)	D36V	probably benign	Het
Or52z13	T	A	7: 103,247,120 (GRCm39)	I199N	probably benign	Het
Or8c16	A	T	9: 38,130,905 (GRCm39)	Y262F	probably damaging	Het
Pgr	T	C	9: 8,946,637 (GRCm39)		probably benign	Het
Ptprn	A	G	1: 75,228,914 (GRCm39)	Y834H	probably damaging	Het
Rbfox3	G	T	11: 118,387,797 (GRCm39)	A241E	probably damaging	Het
Tarbp1	G	A	8: 127,173,970 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,598,055 (GRCm39)	D19619E	probably damaging	Het
Vil1	A	G	1: 74,454,278 (GRCm39)	I14V	probably benign	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
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
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

2014-02-04