Mutagenetix > Incidental Mutations

Incidental Mutation 'R5571:Unc13d'

435684

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

044395-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R5571 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

116062095-116077961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116063654 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1043 (Y1043H)

Ref Sequence

ENSEMBL: ENSMUSP00000134260 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021116] [ENSMUST00000075036] [ENSMUST00000106450] [ENSMUST00000106451] [ENSMUST00000106452] [ENSMUST00000173345] [ENSMUST00000174822]

Predicted Effect

probably benign
Transcript: ENSMUST00000021116

SMART Domains

Protein: ENSMUSP00000021116
Gene: ENSMUSG00000020770

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
low complexity region	70	78	N/A	INTRINSIC
ZnF_C3H1	85	112	1.03e-2	SMART
ZnF_C3H1	124	153	4.3e1	SMART
ZnF_C3H1	215	240	1.1e0	SMART
ZnF_C3H1	251	284	2.17e-1	SMART
ZnF_C3H1	293	320	1.38e-3	SMART
low complexity region	347	365	N/A	INTRINSIC
low complexity region	467	489	N/A	INTRINSIC
low complexity region	563	585	N/A	INTRINSIC
coiled coil region	643	723	N/A	INTRINSIC
RING	769	800	2.74e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000075036
AA Change: Y1043H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000074549
Gene: ENSMUSG00000057948
AA Change: Y1043H

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: Y1045H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102058
Gene: ENSMUSG00000057948
AA Change: Y1045H

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: Y1045H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102059
Gene: ENSMUSG00000057948
AA Change: Y1045H

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: ENSMUST00000106452

SMART Domains

Protein: ENSMUSP00000102060
Gene: ENSMUSG00000020770

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
low complexity region	70	78	N/A	INTRINSIC
ZnF_C3H1	85	112	1.03e-2	SMART
ZnF_C3H1	124	153	4.3e1	SMART
ZnF_C3H1	215	240	1.1e0	SMART
ZnF_C3H1	251	284	2.17e-1	SMART
ZnF_C3H1	293	320	1.38e-3	SMART
low complexity region	454	476	N/A	INTRINSIC
low complexity region	550	572	N/A	INTRINSIC
coiled coil region	630	710	N/A	INTRINSIC
RING	756	787	2.74e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150759

Predicted Effect

probably benign
Transcript: ENSMUST00000173345

SMART Domains

Protein: ENSMUSP00000133679
Gene: ENSMUSG00000057948

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

probably benign
Transcript: ENSMUST00000174822
AA Change: Y1043H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000134260
Gene: ENSMUSG00000057948
AA Change: Y1043H

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

Meta Mutation Damage Score

0.0588

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 92.9%

Validation Efficiency

100% (59/59)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	T	A	7: 140,249,123	C232S	probably damaging	Het
9530053A07Rik	A	G	7: 28,156,569	D1927G	probably damaging	Het
Atad5	T	C	11: 80,111,556	V1058A	probably benign	Het
Baiap2l2	T	C	15: 79,271,583	H97R	probably damaging	Het
Bax	A	G	7: 45,461,891	S184P	probably damaging	Het
Bsph1	T	G	7: 13,450,915	M1R	probably null	Het
Cbln2	A	G	18: 86,713,148	D27G	probably benign	Het
Cntnap3	G	A	13: 64,903,758	A28V	probably damaging	Het
Col6a3	C	A	1: 90,788,216	R1641L	unknown	Het
Dhrs3	T	G	4: 144,893,564	I17S	probably benign	Het
Ep300	T	C	15: 81,643,217		probably benign	Het
Epb41	T	C	4: 131,937,406		probably benign	Het
Fat4	A	T	3: 39,010,274	E4793V	probably damaging	Het
Fbxw22	T	G	9: 109,403,088	K80N	probably damaging	Het
Fbxw24	T	C	9: 109,606,998	E322G	probably benign	Het
Fndc7	T	C	3: 108,856,408	I639V	possibly damaging	Het
Folh1	T	C	7: 86,734,120	Y473C	probably damaging	Het
Foxb2	T	A	19: 16,872,767	M292L	probably benign	Het
Gapvd1	A	G	2: 34,715,253	S41P	probably damaging	Het
Gm8298	A	T	3: 59,877,219	H371L	probably damaging	Het
Gmds	A	T	13: 31,917,721		probably null	Het
Gp6	G	T	7: 4,368,900	A302D	probably damaging	Het
Hmgcr	A	T	13: 96,666,663	M8K	probably benign	Het
Itpripl2	C	T	7: 118,489,869	R489Q	probably damaging	Het
Kmo	T	C	1: 175,647,194	V175A	possibly damaging	Het
Lce1i	C	T	3: 92,777,681	G63S	unknown	Het
Lrp1b	T	C	2: 41,408,342	Q155R	probably damaging	Het
Mdm1	T	C	10: 118,159,683	S541P	possibly damaging	Het
Mgea5	T	C	19: 45,777,006	T121A	probably benign	Het
Neto2	C	T	8: 85,640,544	D524N	probably damaging	Het
Olfr1350	T	C	7: 6,570,825	I278T	possibly damaging	Het
Olfr183	A	T	16: 59,000,206	I174L	probably benign	Het
Olfr319	T	A	11: 58,702,051	F117I	probably damaging	Het
Olfr338	A	G	2: 36,377,117	T114A	probably benign	Het
Ppp4r1	C	T	17: 65,803,861	Q21*	probably null	Het
Ryr2	T	A	13: 11,555,448	T4930S	possibly damaging	Het
Siae	G	A	9: 37,616,923	G64D	probably benign	Het
Slc14a2	T	C	18: 78,209,067	M10V	possibly damaging	Het
Ssrp1	C	G	2: 85,044,325	D496E	probably damaging	Het
Steap2	A	G	5: 5,675,912	S371P	probably damaging	Het
Taf6l	G	A	19: 8,783,930	R24W	probably damaging	Het
Tbkbp1	T	C	11: 97,148,729	Q118R	probably damaging	Het
Tln2	C	T	9: 67,334,320	G1001E	possibly damaging	Het
Tm2d3	A	G	7: 65,699,124	N184D	probably damaging	Het
Tmprss2	A	T	16: 97,590,871	W131R	probably null	Het
Ube2d2a	A	G	18: 35,770,478		probably benign	Het
Usp34	T	A	11: 23,457,975	I2600K	probably damaging	Het
Vmn1r198	A	G	13: 22,354,998	Y218C	probably damaging	Het
Vmn2r8	T	C	5: 108,802,240	Y247C	probably damaging	Het
Wdr59	A	T	8: 111,465,831	N699K	probably damaging	Het
Zcchc2	T	C	1: 106,023,672	V579A	probably benign	Het
Zfhx3	A	T	8: 108,955,991	Q3354L	unknown	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
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
R7291:Unc13d	UTSW	11	116074050	missense	possibly damaging	0.79
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
X0027:Unc13d	UTSW	11	116069756	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCAGAACTTAAATGTCACAGG -3'
(R):5'- GCAGATTTGGGTAAGGCAGTC -3'

Sequencing Primer
(F):5'- GACTCTCCATTAGACGAGAGCTTG -3'
(R):5'- TTTGGGTAAGGCAGTCGACTAACC -3'

Posted On

2016-10-24