Mutagenetix > Incidental Mutation

Incidental Mutation 'R1019:Unc13d'

96775

Institutional Source

Beutler Lab

Gene Symbol

Unc13d

Ensembl Gene

ENSMUSG00000057948

Gene Name

unc-13 homolog D

Synonyms

Jinx, 2610108D09Rik, Munc13-4

MMRRC Submission

039123-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R1019 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115952921-115968787 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 115958900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 754 (R754C)

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: R754C

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000074549
Gene: ENSMUSG00000057948
AA Change: R754C

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: ENSMUST00000106450
AA Change: R756C

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000102058
Gene: ENSMUSG00000057948
AA Change: R756C

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 benign
Transcript: ENSMUST00000106451
AA Change: R756C

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000102059
Gene: ENSMUSG00000057948
AA Change: R756C

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

probably benign
Transcript: ENSMUST00000173345
AA Change: R756C

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000133679
Gene: ENSMUSG00000057948
AA Change: R756C

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 benign
Transcript: ENSMUST00000174822
AA Change: R754C

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000134260
Gene: ENSMUSG00000057948
AA Change: R754C

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

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	C	8: 120,872,209 (GRCm39)	E46Q	probably damaging	Het
9130401M01Rik	A	G	15: 57,885,823 (GRCm39)	I353T	possibly damaging	Het
A830031A19Rik	G	A	11: 23,999,438 (GRCm39)	R53C	unknown	Het
Abcc6	T	C	7: 45,663,531 (GRCm39)	R378G	possibly damaging	Het
Adam10	A	G	9: 70,668,922 (GRCm39)	N413D	probably benign	Het
Csmd2	T	C	4: 128,415,807 (GRCm39)	V2712A	probably benign	Het
Dnhd1	T	C	7: 105,358,378 (GRCm39)	F3289S	probably damaging	Het
Hectd1	A	G	12: 51,795,440 (GRCm39)	S2330P	probably damaging	Het
Ift74	C	T	4: 94,524,072 (GRCm39)	A196V	probably benign	Het
Kifc1	G	A	17: 34,103,685 (GRCm39)	R195C	probably benign	Het
Lipo2	A	T	19: 33,708,257 (GRCm39)	C252*	probably null	Het
Mrgpra1	C	G	7: 46,984,833 (GRCm39)	C282S	probably benign	Het
Nfatc2	A	T	2: 168,346,799 (GRCm39)	L765Q	probably damaging	Het
Or13a26	C	T	7: 140,284,407 (GRCm39)	P81L	probably damaging	Het
Or1l8	A	G	2: 36,817,764 (GRCm39)	F121L	probably benign	Het
Otof	C	A	5: 30,528,087 (GRCm39)	V1924L	probably damaging	Het
Pdhb	T	C	14: 8,171,442 (GRCm38)	Q62R	probably benign	Het
Plbd1	A	G	6: 136,628,903 (GRCm39)	V55A	probably benign	Het
Poteg	T	A	8: 27,937,852 (GRCm39)	F3I	possibly damaging	Het
Rptor	A	G	11: 119,734,569 (GRCm39)	D46G	probably damaging	Het
Slc18a1	C	T	8: 69,527,685 (GRCm39)		probably null	Het
Slc37a1	A	G	17: 31,534,568 (GRCm39)	N80S	probably benign	Het
Slc6a18	T	A	13: 73,825,998 (GRCm39)	R17S	probably damaging	Het
Spata31d1a	A	G	13: 59,850,182 (GRCm39)	S649P	probably benign	Het
Syngr3	G	T	17: 24,906,534 (GRCm39)	Q94K	possibly damaging	Het
Tgm2	C	A	2: 157,966,074 (GRCm39)	E527*	probably null	Het
Tnc	T	A	4: 63,880,319 (GRCm39)	T1952S	probably damaging	Het
Ubqln3	C	T	7: 103,790,593 (GRCm39)	R499Q	probably benign	Het
Uck1	A	G	2: 32,146,205 (GRCm39)	V230A	possibly damaging	Het
Zfp708	C	T	13: 67,222,162 (GRCm39)	A73T	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGAACAGACTCCTTGACGCCAATG -3'
(R):5'- AGCTGACATGGTAAGACCCAGAGC -3'

Sequencing Primer
(F):5'- CTTGACGCCAATGAGTTTCTG -3'
(R):5'- ATGAAACCGGCATCTCTCTC -3'

Posted On

2014-01-05