Mutagenetix > Incidental Mutation

Incidental Mutation 'R1909:Unc13d'

210193

Institutional Source

Beutler Lab

Gene Symbol

Unc13d

Ensembl Gene

ENSMUSG00000057948

Gene Name

unc-13 homolog D

Synonyms

Jinx, 2610108D09Rik, Munc13-4

MMRRC Submission

039928-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R1909 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115952921-115968787 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115961121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 412 (F412S)

Ref Sequence

ENSEMBL: ENSMUSP00000133679 (fasta)

Gene Model

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

AlphaFold

B2RUP2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075036
AA Change: F412S

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074549
Gene: ENSMUSG00000057948
AA Change: F412S

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: ENSMUST00000106450
AA Change: F412S

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102058
Gene: ENSMUSG00000057948
AA Change: F412S

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: F412S

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102059
Gene: ENSMUSG00000057948
AA Change: F412S

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 damaging
Transcript: ENSMUST00000173345
AA Change: F412S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133679
Gene: ENSMUSG00000057948
AA Change: F412S

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

possibly damaging
Transcript: ENSMUST00000174822
AA Change: F412S

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134260
Gene: ENSMUSG00000057948
AA Change: F412S

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: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.1%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	A	C	11: 101,301,057 (GRCm39)		probably null	Het
Abcc5	A	G	16: 20,195,259 (GRCm39)		probably null	Het
Abcc6	T	C	7: 45,669,558 (GRCm39)		probably null	Het
Adam15	C	A	3: 89,252,637 (GRCm39)	M317I	probably benign	Het
Ago3	T	C	4: 126,240,530 (GRCm39)	T111A	probably damaging	Het
Amz1	G	T	5: 140,738,216 (GRCm39)	S492I	probably benign	Het
Arid1a	T	C	4: 133,421,072 (GRCm39)	N911S	unknown	Het
Ascl2	C	A	7: 142,521,900 (GRCm39)	A115S	probably damaging	Het
Ash1l	T	C	3: 88,891,835 (GRCm39)	V1238A	probably benign	Het
Asxl2	G	T	12: 3,524,577 (GRCm39)	V202F	probably damaging	Het
Atp10a	A	T	7: 58,478,460 (GRCm39)	Q1501L	probably benign	Het
Avpr1a	A	T	10: 122,288,113 (GRCm39)	I374L	probably benign	Het
Bmal2	A	T	6: 146,712,308 (GRCm39)	E111V	probably benign	Het
Bmx	T	C	X: 163,022,411 (GRCm39)	H157R	probably benign	Het
Camk4	T	A	18: 33,291,869 (GRCm39)		probably null	Het
Ccdc103	G	A	11: 102,773,392 (GRCm39)	D5N	probably benign	Het
Ccdc186	A	T	19: 56,781,793 (GRCm39)	N70K	probably damaging	Het
Cebpz	A	T	17: 79,242,336 (GRCm39)	Y439*	probably null	Het
Cfap206	A	C	4: 34,722,714 (GRCm39)	S122R	probably benign	Het
Cnst	T	C	1: 179,450,356 (GRCm39)	S607P	probably damaging	Het
Col8a2	C	A	4: 126,205,926 (GRCm39)	D645E	possibly damaging	Het
Cpsf4l	A	T	11: 113,594,204 (GRCm39)		probably null	Het
Crim1	C	T	17: 78,620,556 (GRCm39)	T332I	probably benign	Het
Csmd1	A	T	8: 15,956,116 (GRCm39)	Y3364N	probably damaging	Het
D5Ertd579e	A	T	5: 36,771,402 (GRCm39)	S998T	probably benign	Het
Dab2ip	C	G	2: 35,608,827 (GRCm39)	A587G	probably damaging	Het
Dach1	C	T	14: 98,138,829 (GRCm39)	G486D	probably damaging	Het
Ddx24	T	C	12: 103,376,241 (GRCm39)	I752V	probably damaging	Het
Dennd2b	G	A	7: 109,124,533 (GRCm39)	Q686*	probably null	Het
Dhx33	A	G	11: 70,879,933 (GRCm39)	V359A	probably benign	Het
Dip2c	A	T	13: 9,583,386 (GRCm39)	T123S	probably benign	Het
Dync1h1	G	A	12: 110,629,063 (GRCm39)	E4207K	probably damaging	Het
Eef1b2	G	T	1: 63,216,431 (GRCm39)	D21Y	probably damaging	Het
Eif3b	T	C	5: 140,418,692 (GRCm39)	S462P	probably damaging	Het
Elmod2	G	C	8: 84,042,998 (GRCm39)	R277G	probably benign	Het
Epg5	T	A	18: 78,002,247 (GRCm39)	D555E	probably benign	Het
Ercc8	A	T	13: 108,312,100 (GRCm39)	K172*	probably null	Het
Fat3	T	C	9: 15,909,411 (GRCm39)	N2197S	probably benign	Het
Fbf1	A	G	11: 116,036,818 (GRCm39)	V972A	possibly damaging	Het
Fcgbpl1	T	C	7: 27,843,773 (GRCm39)	V887A	possibly damaging	Het
Fes	T	C	7: 80,036,609 (GRCm39)	R113G	probably damaging	Het
Fzd1	G	T	5: 4,807,481 (GRCm39)	H34N	probably benign	Het
Galnt17	T	A	5: 131,140,676 (GRCm39)	Y147F	probably benign	Het
Garre1	T	A	7: 33,957,461 (GRCm39)	I59L	probably benign	Het
Gdf6	T	C	4: 9,859,971 (GRCm39)	L351P	probably damaging	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm2381	A	T	7: 42,469,352 (GRCm39)	H257Q	probably damaging	Het
Hivep1	A	T	13: 42,309,122 (GRCm39)	K454M	probably benign	Het
Hmmr	T	A	11: 40,598,925 (GRCm39)	E566D	probably damaging	Het
Hydin	T	G	8: 111,314,404 (GRCm39)	V4296G	probably damaging	Het
Il18r1	T	A	1: 40,514,074 (GRCm39)	D93E	probably damaging	Het
Iqgap1	T	C	7: 80,393,576 (GRCm39)	D667G	probably benign	Het
Lama3	T	C	18: 12,714,855 (GRCm39)	I3278T	probably benign	Het
Lrp4	T	A	2: 91,328,753 (GRCm39)	V1551D	possibly damaging	Het
Mdn1	CGGAGGAGGAGGAGGAG	CGGAGGAGGAGGAG	4: 32,760,839 (GRCm39)		probably benign	Het
Mga	T	A	2: 119,757,075 (GRCm39)	H1018Q	possibly damaging	Het
Ncoa7	A	T	10: 30,565,796 (GRCm39)	M666K	probably damaging	Het
Ndnf	T	G	6: 65,680,297 (GRCm39)	V192G	possibly damaging	Het
Nr4a1	T	A	15: 101,172,108 (GRCm39)	I594N	probably damaging	Het
Or13a27	T	C	7: 139,925,378 (GRCm39)	I175V	probably benign	Het
Or2ag16	T	C	7: 106,352,202 (GRCm39)	N131S	probably benign	Het
Or4k44	T	A	2: 111,368,359 (GRCm39)	I92F	probably damaging	Het
Or51q1	G	A	7: 103,628,997 (GRCm39)	W199*	probably null	Het
Or52z13	A	G	7: 103,246,550 (GRCm39)	N9S	probably benign	Het
Paxbp1	T	C	16: 90,841,193 (GRCm39)		probably benign	Het
Pcdhb8	A	G	18: 37,489,015 (GRCm39)	E231G	possibly damaging	Het
Pcsk5	A	T	19: 17,410,825 (GRCm39)	Y1856N	probably benign	Het
Pde3a	T	C	6: 141,195,965 (GRCm39)	V217A	probably benign	Het
Phf11	A	T	14: 59,496,062 (GRCm39)	S17R	probably benign	Het
Pira13	A	T	7: 3,825,918 (GRCm39)	I317N	probably benign	Het
Pirb	A	T	7: 3,717,587 (GRCm39)	D674E	probably benign	Het
Pnisr	T	A	4: 21,869,517 (GRCm39)	M335K	possibly damaging	Het
Pnpla7	T	A	2: 24,887,300 (GRCm39)	M48K	possibly damaging	Het
Pomgnt2	A	T	9: 121,811,257 (GRCm39)	I508N	possibly damaging	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prkca	A	T	11: 107,830,438 (GRCm39)	D217E	possibly damaging	Het
Rac3	A	C	11: 120,614,163 (GRCm39)	I142L	probably benign	Het
Ralgapb	G	T	2: 158,286,595 (GRCm39)	A347S	probably damaging	Het
Rbm43	G	C	2: 51,815,446 (GRCm39)	S258R	possibly damaging	Het
Rnf182	T	A	13: 43,821,899 (GRCm39)	V150E	probably benign	Het
Rsph10b	T	C	5: 143,922,309 (GRCm39)	F409L	probably benign	Het
Ryr2	A	T	13: 11,715,235 (GRCm39)	L2778M	probably damaging	Het
Scn1a	T	C	2: 66,161,696 (GRCm39)	N284S	possibly damaging	Het
Scyl2	A	T	10: 89,476,767 (GRCm39)	M786K	probably benign	Het
Sema4g	C	A	19: 44,986,061 (GRCm39)	R301S	probably damaging	Het
Senp6	A	T	9: 80,021,056 (GRCm39)	E245D	possibly damaging	Het
Setx	T	C	2: 29,053,021 (GRCm39)	V2095A	possibly damaging	Het
Slc13a2	A	T	11: 78,290,968 (GRCm39)	M412K	possibly damaging	Het
Slc25a4	T	C	8: 46,662,437 (GRCm39)	N74D	probably damaging	Het
Slc28a1	T	A	7: 80,791,783 (GRCm39)	F316L	probably damaging	Het
Slfn8	G	A	11: 82,894,447 (GRCm39)	Q731*	probably null	Het
Slitrk4	A	G	X: 63,316,229 (GRCm39)	I146T	probably damaging	Het
Smg1	A	G	7: 117,753,422 (GRCm39)		probably benign	Het
Smg8	G	T	11: 86,971,439 (GRCm39)	Y777*	probably null	Het
Smyd1	T	A	6: 71,216,563 (GRCm39)	K61N	probably benign	Het
Sod2	T	C	17: 13,234,056 (GRCm39)	*223R	probably null	Het
Sp6	G	T	11: 96,912,334 (GRCm39)	A16S	probably benign	Het
Spata31d1a	A	C	13: 59,850,509 (GRCm39)	Y540D	probably damaging	Het
Spatc1l	A	G	10: 76,399,751 (GRCm39)	D91G	probably damaging	Het
Spg7	A	G	8: 123,807,480 (GRCm39)	T419A	probably benign	Het
St8sia4	A	G	1: 95,555,298 (GRCm39)	I244T	probably damaging	Het
Tbl2	C	T	5: 135,181,845 (GRCm39)	R27W	probably damaging	Het
Tmed4	G	A	11: 6,224,694 (GRCm39)	P47L	probably damaging	Het
Tmsb10b	T	C	7: 24,561,731 (GRCm39)	I10T	possibly damaging	Het
Tmtc1	T	C	6: 148,345,546 (GRCm39)	D51G	possibly damaging	Het
Ttc28	T	C	5: 111,431,920 (GRCm39)		probably null	Het
Unc45b	A	C	11: 82,816,913 (GRCm39)	K451T	probably damaging	Het
Vmn2r16	A	G	5: 109,511,853 (GRCm39)	M687V	probably benign	Het
Vmn2r68	T	A	7: 84,883,260 (GRCm39)	H164L	probably benign	Het
Vps51	A	G	19: 6,119,499 (GRCm39)	V625A	probably benign	Het
Wapl	T	A	14: 34,413,869 (GRCm39)	W244R	probably damaging	Het
Wdr75	C	T	1: 45,862,563 (GRCm39)	T794I	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
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
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'- GGCCTTCATTTTGCACATCTGG -3'
(R):5'- ATCACCAGCATAGAGTACCAGTG -3'

Sequencing Primer
(F):5'- TTGCACATCTGGACCAAGACTCTG -3'
(R):5'- CAGCATAGAGTACCAGTGGATCC -3'

Posted On

2014-06-30