Mutagenetix > Incidental Mutation

Incidental Mutation 'R4705:Unc13d'

355154

Institutional Source

Beutler Lab

Gene Symbol

Unc13d

Ensembl Gene

ENSMUSG00000057948

Gene Name

unc-13 homolog D

Synonyms

Jinx, 2610108D09Rik, Munc13-4

MMRRC Submission

041953-MU

Accession Numbers

Essential gene?

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

Stock #

R4705 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115952921-115968787 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115964214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 350 (M350K)

Ref Sequence

ENSEMBL: ENSMUSP00000133679 (fasta)

Gene Model

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

AlphaFold

B2RUP2

Predicted Effect

probably benign
Transcript: ENSMUST00000075036
AA Change: M350K

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000074549
Gene: ENSMUSG00000057948
AA Change: M350K

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: M350K

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102058
Gene: ENSMUSG00000057948
AA Change: M350K

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: M350K

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102059
Gene: ENSMUSG00000057948
AA Change: M350K

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

noncoding transcript
Transcript: ENSMUST00000155120

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: M350K

PolyPhen 2 Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133679
Gene: ENSMUSG00000057948
AA Change: M350K

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: M350K

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134260
Gene: ENSMUSG00000057948
AA Change: M350K

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

noncoding transcript
Transcript: ENSMUST00000173943

Meta Mutation Damage Score

0.6777

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

96% (113/118)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	A	G	1: 183,765,369 (GRCm39)	V230A	possibly damaging	Het
2010315B03Rik	T	C	9: 124,056,631 (GRCm39)	T123A	possibly damaging	Het
Abca4	T	C	3: 121,899,019 (GRCm39)	V667A	probably damaging	Het
Abcb5	A	G	12: 118,929,040 (GRCm39)	S4P	possibly damaging	Het
Adam25	G	T	8: 41,207,163 (GRCm39)	C143F	probably damaging	Het
Ahnak	C	A	19: 8,994,270 (GRCm39)	H5185N	probably benign	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Ascc1	A	G	10: 59,885,624 (GRCm39)	Y225C	probably damaging	Het
Aspscr1	A	T	11: 120,579,771 (GRCm39)	K39N	possibly damaging	Het
Atf7ip	C	T	6: 136,538,192 (GRCm39)	P483L	probably damaging	Het
Atp11a	C	G	8: 12,863,118 (GRCm39)	P99R	probably damaging	Het
B4galnt1	G	T	10: 127,003,394 (GRCm39)	V172F	possibly damaging	Het
Bag6	C	A	17: 35,361,319 (GRCm39)	P476H	probably damaging	Het
Bltp1	C	T	3: 37,096,038 (GRCm39)	T1108I	probably benign	Het
C2cd3	A	G	7: 100,044,395 (GRCm39)	K326E	possibly damaging	Het
Casp1	A	G	9: 5,306,204 (GRCm39)	D363G	probably damaging	Het
Ccdc33	G	T	9: 58,024,840 (GRCm39)	Q129K	probably benign	Het
Ccdc88a	T	C	11: 29,372,586 (GRCm39)	I107T	probably benign	Het
Cela2a	T	C	4: 141,548,722 (GRCm39)	N138S	probably benign	Het
Cfap61	A	C	2: 145,877,122 (GRCm39)	R460S	probably damaging	Het
Clstn2	T	C	9: 97,345,612 (GRCm39)	N579D	possibly damaging	Het
Col13a1	C	A	10: 61,685,944 (GRCm39)	G683W	unknown	Het
Col4a2	G	A	8: 11,363,504 (GRCm39)	R14Q	possibly damaging	Het
Cpa6	A	G	1: 10,551,283 (GRCm39)	S164P	probably benign	Het
Cpq	A	G	15: 33,497,484 (GRCm39)	N408S	probably benign	Het
Ctnnal1	T	C	4: 56,812,579 (GRCm39)	T690A	probably benign	Het
Cx3cl1	A	T	8: 95,506,835 (GRCm39)	N280I	probably benign	Het
Cyp2b19	C	T	7: 26,456,717 (GRCm39)	R36C	probably benign	Het
Ddx51	T	C	5: 110,803,174 (GRCm39)	V269A	probably damaging	Het
Dipk2a	T	C	9: 94,402,688 (GRCm39)	N325D	possibly damaging	Het
Dlst	G	T	12: 85,165,616 (GRCm39)		probably null	Het
Dmkn	G	C	7: 30,463,406 (GRCm39)	A20P	probably damaging	Het
Dnhd1	T	C	7: 105,304,948 (GRCm39)	I330T	probably damaging	Het
Dock3	G	A	9: 106,902,535 (GRCm39)	H292Y	probably damaging	Het
Ell	A	G	8: 71,031,584 (GRCm39)	D94G	possibly damaging	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Fam3d	T	C	14: 8,349,347 (GRCm38)	E201G	probably benign	Het
Fcgbp	A	G	7: 27,806,721 (GRCm39)	K2230E	probably benign	Het
Frmd5	G	T	2: 121,393,344 (GRCm39)		probably benign	Het
Gas2l1	G	A	11: 5,010,867 (GRCm39)	S654L	possibly damaging	Het
Gltpd2	G	T	11: 70,410,966 (GRCm39)	E86*	probably null	Het
Glyat	T	C	19: 12,628,661 (GRCm39)	L152P	possibly damaging	Het
Gm17330	T	C	12: 24,018,783 (GRCm39)	T22A	probably damaging	Het
Gm9931	T	A	1: 147,157,591 (GRCm39)		noncoding transcript	Het
Gpatch1	A	T	7: 34,998,730 (GRCm39)		probably null	Het
Gpr4	T	C	7: 18,956,819 (GRCm39)	L247P	probably damaging	Het
Gtpbp3	G	A	8: 71,943,758 (GRCm39)	E214K	probably benign	Het
Hdac7	G	T	15: 97,709,468 (GRCm39)	Q21K	probably damaging	Het
Hivep3	A	G	4: 119,729,247 (GRCm39)		probably benign	Het
Hk2	C	T	6: 82,716,631 (GRCm39)	M300I	possibly damaging	Het
Ighv1-61	T	C	12: 115,322,899 (GRCm39)	Y71C	probably damaging	Het
Il36b	T	C	2: 24,044,630 (GRCm39)	V10A	probably benign	Het
Inpp5f	G	T	7: 128,265,711 (GRCm39)	S152I	probably damaging	Het
Jag1	C	A	2: 136,938,229 (GRCm39)	W257L	probably damaging	Het
Jak2	T	A	19: 29,272,315 (GRCm39)	N612K	possibly damaging	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kbtbd6	A	G	14: 79,690,046 (GRCm39)	D247G	probably benign	Het
Kif15	A	G	9: 122,789,058 (GRCm39)		probably null	Het
Kndc1	A	G	7: 139,510,036 (GRCm39)	T1293A	possibly damaging	Het
Lpar5	T	C	6: 125,059,170 (GRCm39)	I297T	possibly damaging	Het
Lpin2	T	A	17: 71,539,138 (GRCm39)		probably benign	Het
Lypd10	T	A	7: 24,412,934 (GRCm39)	L114Q	probably damaging	Het
Mfsd4a	A	T	1: 131,981,309 (GRCm39)	L230Q	probably damaging	Het
Mmp8	T	C	9: 7,565,550 (GRCm39)	V313A	probably benign	Het
Mrpl19	A	T	6: 81,941,266 (GRCm39)	D98E	probably damaging	Het
Mybl1	A	G	1: 9,760,340 (GRCm39)	I86T	probably damaging	Het
Nadk	C	A	4: 155,669,684 (GRCm39)	P157T	probably benign	Het
Necab1	T	C	4: 15,052,628 (GRCm39)	T117A	probably damaging	Het
Nol11	A	G	11: 107,075,544 (GRCm39)		probably benign	Het
Nucb2	G	A	7: 116,139,262 (GRCm39)		probably null	Het
Nup58	G	T	14: 60,488,664 (GRCm39)	P19T	unknown	Het
Odf2	T	A	2: 29,794,046 (GRCm39)	L301Q	probably damaging	Het
Oog4	T	C	4: 143,165,445 (GRCm39)	Y234C	probably benign	Het
Or11j4	A	G	14: 50,630,257 (GRCm39)	I15V	probably benign	Het
Or1ab2	T	A	8: 72,864,044 (GRCm39)	F211L	probably damaging	Het
Papln	T	C	12: 83,823,982 (GRCm39)		probably null	Het
Paqr6	C	T	3: 88,273,236 (GRCm39)	A76V	probably benign	Het
Pclo	A	G	5: 14,726,494 (GRCm39)		probably benign	Het
Pdzd8	T	C	19: 59,333,743 (GRCm39)	T93A	possibly damaging	Het
Pkdrej	A	T	15: 85,705,368 (GRCm39)	Y189*	probably null	Het
Pknox2	A	T	9: 36,834,934 (GRCm39)	N178K	possibly damaging	Het
Pla2g15	T	A	8: 106,889,691 (GRCm39)	M321K	probably benign	Het
Plxnd1	A	C	6: 115,935,581 (GRCm39)	L1735R	probably damaging	Het
Polm	T	A	11: 5,787,663 (GRCm39)	D30V	possibly damaging	Het
Rap1gap2	T	A	11: 74,328,265 (GRCm39)	I100F	probably damaging	Het
Rasgef1c	T	A	11: 49,869,294 (GRCm39)	W414R	probably benign	Het
Rassf1	A	G	9: 107,435,066 (GRCm39)	D187G	probably benign	Het
Rhag	T	C	17: 41,147,329 (GRCm39)	I397T	probably benign	Het
Rnft2	A	G	5: 118,366,928 (GRCm39)	F269S	probably damaging	Het
Rnmt	T	C	18: 68,447,196 (GRCm39)	F360S	probably damaging	Het
Ror2	C	T	13: 53,271,333 (GRCm39)	A329T	probably benign	Het
Slc4a1	T	A	11: 102,247,084 (GRCm39)	N501I	possibly damaging	Het
Slc4a7	T	A	14: 14,733,856 (GRCm38)	S89T	probably damaging	Het
Sptbn1	G	A	11: 30,050,660 (GRCm39)	H2310Y	probably benign	Het
Tbc1d9b	C	A	11: 50,031,289 (GRCm39)	N103K	probably benign	Het
Tbxas1	T	C	6: 39,060,791 (GRCm39)		probably null	Het
Tmem100	C	T	11: 89,926,389 (GRCm39)	T72I	probably damaging	Het
Ttc38	A	G	15: 85,737,164 (GRCm39)	T350A	probably benign	Het
Ubr4	C	T	4: 139,177,840 (GRCm39)	T3241M	probably damaging	Het
Vit	T	C	17: 78,932,543 (GRCm39)	I550T	probably damaging	Het
Vmn1r31	C	A	6: 58,448,953 (GRCm39)	*304L	probably null	Het
Zbtb12	T	A	17: 35,115,377 (GRCm39)	H387Q	possibly damaging	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
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
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'- TAGCTAGGATCTGAGTTGTGCAC -3'
(R):5'- AGCTGGTGTCCCATGAAGTC -3'

Sequencing Primer
(F):5'- GGATCTGAGTTGTGCACAAAATCTCC -3'
(R):5'- TGGTGTCCCATGAAGTCACACAG -3'

Posted On

2015-10-21