Mutagenetix > Incidental Mutation

Incidental Mutation 'R7291:Unc13d'

566430

Institutional Source

Beutler Lab

Gene Symbol

Unc13d

Ensembl Gene

ENSMUSG00000057948

Gene Name

unc-13 homolog D (C. elegans)

Synonyms

2610108D09Rik, Munc13-4, Jinx

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R7291 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116062095-116077961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116074050 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 248 (R248G)

Ref Sequence

ENSEMBL: ENSMUSP00000134260 (fasta)

Gene Model

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

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: R248G

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074549
Gene: ENSMUSG00000057948
AA Change: R248G

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: R248G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102058
Gene: ENSMUSG00000057948
AA Change: R248G

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: R248G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102059
Gene: ENSMUSG00000057948
AA Change: R248G

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: ENSMUST00000153408

SMART Domains

Protein: ENSMUSP00000115327
Gene: ENSMUSG00000057948

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

Predicted Effect

probably benign
Transcript: ENSMUST00000156545

SMART Domains

Protein: ENSMUSP00000118266
Gene: ENSMUSG00000057948

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173345
AA Change: R248G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133679
Gene: ENSMUSG00000057948
AA Change: R248G

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: R248G

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134260
Gene: ENSMUSG00000057948
AA Change: R248G

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430069I07Rik	T	C	15: 34,355,553	E51G	possibly damaging	Het
9530053A07Rik	A	C	7: 28,140,220	D486A	probably benign	Het
Abca14	C	A	7: 120,289,609	C1259*	probably null	Het
Ablim1	T	C	19: 57,215,908	E17G	probably benign	Het
Acsf3	G	A	8: 122,813,577	V505I	probably benign	Het
Actn1	T	C	12: 80,174,085	M650V	probably benign	Het
Adamts4	G	A	1: 171,256,528	V525I	probably benign	Het
Adh1	T	C	3: 138,282,808	Y181H	probably damaging	Het
Alpl	G	A	4: 137,752,698	R168W	probably damaging	Het
Ate1	T	G	7: 130,519,931	K11Q	probably benign	Het
Atpaf1	T	A	4: 115,811,091	F314L	probably damaging	Het
Baiap3	T	A	17: 25,244,317	D1004V	probably damaging	Het
Bpifb9a	C	T	2: 154,267,696	T504M	probably damaging	Het
C1s2	T	A	6: 124,625,384	I623F	probably benign	Het
Card11	T	C	5: 140,901,070	D308G	probably damaging	Het
Cul9	C	T	17: 46,540,433	V354I	probably benign	Het
Dnah1	A	T	14: 31,298,705	F1236I	probably damaging	Het
Dync2h1	T	A	9: 6,929,590	I4266F	possibly damaging	Het
Ear10	A	T	14: 43,922,920	V150D	probably damaging	Het
Elfn2	C	T	15: 78,672,983	A455T	probably benign	Het
Erp44	A	G	4: 48,208,792	Y223H	probably damaging	Het
Fam110b	T	A	4: 5,798,895	H104Q	probably benign	Het
Fcgbp	A	G	7: 28,101,392	N1288D	probably benign	Het
Fcrl1	T	C	3: 87,385,781		probably null	Het
Fmo2	G	T	1: 162,887,702	P117Q	probably benign	Het
Fsip2	A	G	2: 82,980,519	K2394R	possibly damaging	Het
Gab1	T	G	8: 80,800,151	K106T	probably damaging	Het
Gatad2b	T	C	3: 90,351,414	V248A	probably damaging	Het
Gemin6	T	C	17: 80,227,775	S55P	possibly damaging	Het
Gfm2	G	A	13: 97,175,024	V701I	probably benign	Het
Gm3250	T	C	10: 77,782,227	T106A	unknown	Het
Gm7356	T	C	17: 14,001,581	N62S	probably benign	Het
Gsdmc4	T	C	15: 63,902,840	T31A	possibly damaging	Het
H2-M10.1	T	A	17: 36,325,729	D61V	probably damaging	Het
Heatr5a	A	G	12: 51,925,339	L716S	probably damaging	Het
Hecw2	A	G	1: 53,914,594	Y831H	probably damaging	Het
Ifi202b	C	T	1: 173,974,815	S151N	probably benign	Het
Il15ra	C	T	2: 11,718,381	T72I	probably damaging	Het
Ints1	A	G	5: 139,765,074	L858P	probably damaging	Het
Kat2a	C	T	11: 100,710,900	V230I	possibly damaging	Het
Kcnq2	A	T	2: 181,088,379	I498N	possibly damaging	Het
Kif26b	C	T	1: 178,679,046	T229I	possibly damaging	Het
Ly75	T	A	2: 60,329,993	I957F	probably damaging	Het
Map3k12	T	A	15: 102,502,166	R459W	probably damaging	Het
Mia2	T	A	12: 59,158,369		probably null	Het
Mrgprf	A	G	7: 145,307,469	I53V	unknown	Het
Mttp	A	G	3: 138,091,203	L846P	probably damaging	Het
Myrip	C	T	9: 120,417,141	L112F	probably damaging	Het
Nav1	A	G	1: 135,465,859	F1047S	probably damaging	Het
Nfkbib	T	C	7: 28,759,203	D327G	possibly damaging	Het
Notch1	C	T	2: 26,476,375	V776I	probably benign	Het
Obsl1	G	T	1: 75,489,517	D1522E	probably damaging	Het
Olfr1464-ps1	A	T	19: 13,282,153	F302I	unknown	Het
Olfr605	T	A	7: 103,442,788	M112L	probably benign	Het
Olfr823	T	C	10: 130,112,224	K189E	probably benign	Het
Olfr859	T	C	9: 19,808,648	M110T	possibly damaging	Het
Pde7a	T	C	3: 19,227,674	N471D	probably benign	Het
Pla2r1	T	C	2: 60,530,435	H203R	probably benign	Het
Plch2	C	A	4: 154,998,472	C573F	probably damaging	Het
Polr1a	G	A	6: 71,941,456	R666Q	probably benign	Het
Prepl	T	C	17: 85,081,240	N145S	probably benign	Het
Psen2	C	T	1: 180,238,956	V139M	probably benign	Het
Ptgdr	A	T	14: 44,859,192	M21K	possibly damaging	Het
Rapgef6	T	C	11: 54,691,239	W1331R	probably benign	Het
Rp1l1	G	A	14: 64,032,298	G1778S	probably benign	Het
Rrbp1	A	T	2: 143,969,462	M824K	probably benign	Het
Sel1l	T	C	12: 91,848,965	T23A	probably benign	Het
Sele	A	G	1: 164,053,868	S515G	possibly damaging	Het
Slc22a23	T	C	13: 34,197,839	N421D	probably damaging	Het
Slc35f3	T	G	8: 126,394,558	L386R	probably benign	Het
Stab2	G	A	10: 86,946,220	S699L	probably damaging	Het
Synrg	A	T	11: 84,009,381	L726F	probably damaging	Het
Syt3	G	A	7: 44,395,919	V528M	probably damaging	Het
Szt2	A	G	4: 118,391,249	I655T	probably damaging	Het
Tbr1	T	C	2: 61,812,256	S622P	probably damaging	Het
Tex36	C	T	7: 133,587,223	G207S	probably benign	Het
Trav5n-4	G	A	14: 53,312,942	W13*	probably null	Het
Trdn	A	T	10: 33,437,736	E500V	probably null	Het
Ugt2b38	A	T	5: 87,411,895	N379K	probably damaging	Het
Vmn1r195	C	T	13: 22,278,749	L130F	probably damaging	Het
Vmn2r110	T	C	17: 20,574,209	I733V	probably benign	Het
Zfp870	T	A	17: 32,883,854	N167I	probably damaging	Het
Zmynd10	A	T	9: 107,549,304	M179L	probably benign	Het

Other mutations in Unc13d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00711:Unc13d	APN	11	116074403	missense	probably damaging	0.99
IGL00976:Unc13d	APN	11	116070467	missense	probably damaging	1.00
IGL01630:Unc13d	APN	11	116073866	missense	probably benign	0.00
IGL01761:Unc13d	APN	11	116073869	missense	probably damaging	1.00
IGL01772:Unc13d	APN	11	116076532	missense	possibly damaging	0.91
IGL01935:Unc13d	APN	11	116069751	missense	probably benign
IGL02486:Unc13d	APN	11	116069806	splice site	probably benign
IGL02503:Unc13d	APN	11	116068802	missense	possibly damaging	0.82
IGL02519:Unc13d	APN	11	116070533	missense	probably damaging	1.00
IGL02524:Unc13d	APN	11	116070319	missense	probably damaging	1.00
IGL02634:Unc13d	APN	11	116070556	splice site	probably benign
IGL02636:Unc13d	APN	11	116073618	missense	probably damaging	1.00
IGL03243:Unc13d	APN	11	116067844	missense	probably benign	0.34
jinx	UTSW	11	116073423	unclassified	probably benign
R0033:Unc13d	UTSW	11	116069165	missense	probably benign	0.00
R0084:Unc13d	UTSW	11	116063831	missense	probably damaging	1.00
R0122:Unc13d	UTSW	11	116065482	missense	probably benign	0.00
R0422:Unc13d	UTSW	11	116070020	critical splice donor site	probably null
R0666:Unc13d	UTSW	11	116069492	splice site	probably benign
R1019:Unc13d	UTSW	11	116068074	missense	probably benign	0.03
R1333:Unc13d	UTSW	11	116073555	splice site	probably benign
R1484:Unc13d	UTSW	11	116073875	missense	possibly damaging	0.72
R1594:Unc13d	UTSW	11	116068712	missense	probably benign	0.04
R1597:Unc13d	UTSW	11	116074436	missense	probably benign	0.02
R1603:Unc13d	UTSW	11	116073655	missense	possibly damaging	0.86
R1662:Unc13d	UTSW	11	116068673	missense	probably null	1.00
R1909:Unc13d	UTSW	11	116070295	missense	probably damaging	0.99
R2015:Unc13d	UTSW	11	116068755	missense	probably damaging	1.00
R2313:Unc13d	UTSW	11	116063734	missense	probably damaging	1.00
R2435:Unc13d	UTSW	11	116068688	missense	probably damaging	1.00
R4705:Unc13d	UTSW	11	116073388	missense	possibly damaging	0.70
R4732:Unc13d	UTSW	11	116073582	missense	possibly damaging	0.91
R4733:Unc13d	UTSW	11	116073582	missense	possibly damaging	0.91
R4792:Unc13d	UTSW	11	116070282	missense	probably damaging	1.00
R4843:Unc13d	UTSW	11	116074259	missense	probably damaging	1.00
R5496:Unc13d	UTSW	11	116066708	missense	probably damaging	1.00
R5571:Unc13d	UTSW	11	116063654	missense	probably benign	0.00
R5589:Unc13d	UTSW	11	116069753	missense	probably damaging	0.99
R5838:Unc13d	UTSW	11	116064625	missense	possibly damaging	0.80
R6058:Unc13d	UTSW	11	116073568	critical splice donor site	probably null
R6266:Unc13d	UTSW	11	116068238	missense	probably damaging	1.00
R6807:Unc13d	UTSW	11	116066751	missense	probably damaging	0.98
R7085:Unc13d	UTSW	11	116064807	missense	probably benign	0.07
R7098:Unc13d	UTSW	11	116063726	missense	probably damaging	1.00
R7269:Unc13d	UTSW	11	116068230	missense	probably benign	0.01
R7453:Unc13d	UTSW	11	116067871	missense	probably benign
R7486:Unc13d	UTSW	11	116074433	missense	possibly damaging	0.68
R7618:Unc13d	UTSW	11	116066721	missense	probably damaging	1.00
R7817:Unc13d	UTSW	11	116076283	missense	probably damaging	1.00
R8290:Unc13d	UTSW	11	116068147	missense	probably damaging	0.97
R8442:Unc13d	UTSW	11	116067831	missense	probably damaging	0.99
R8817:Unc13d	UTSW	11	116068172	small insertion	probably benign
R8818:Unc13d	UTSW	11	116068172	small insertion	probably benign
R8820:Unc13d	UTSW	11	116068172	small insertion	probably benign
R8821:Unc13d	UTSW	11	116068172	small insertion	probably benign
R8858:Unc13d	UTSW	11	116062792	missense	probably damaging	1.00
R9031:Unc13d	UTSW	11	116068172	small insertion	probably benign
R9066:Unc13d	UTSW	11	116066735	missense	probably benign	0.07
R9084:Unc13d	UTSW	11	116068172	small insertion	probably benign
R9085:Unc13d	UTSW	11	116068172	small insertion	probably benign
R9258:Unc13d	UTSW	11	116068172	small insertion	probably benign
R9258:Unc13d	UTSW	11	116068181	small insertion	probably benign
R9259:Unc13d	UTSW	11	116068172	small insertion	probably benign
R9260:Unc13d	UTSW	11	116068172	small insertion	probably benign
R9396:Unc13d	UTSW	11	116075703	critical splice donor site	probably null
R9612:Unc13d	UTSW	11	116070318	nonsense	probably null
R9648:Unc13d	UTSW	11	116068172	small insertion	probably benign
R9649:Unc13d	UTSW	11	116068172	small insertion	probably benign
R9650:Unc13d	UTSW	11	116068172	small insertion	probably benign
X0027:Unc13d	UTSW	11	116069756	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGGTCCTAAGCAAGCAAG -3'
(R):5'- TGGACACTGTGGAGTCTGTCAG -3'

Sequencing Primer
(F):5'- CAAGACATGCAATGCTGAGC -3'
(R):5'- TGTCAGGCAGAAGCTCGG -3'

Posted On

2019-06-26