Mutagenetix > Incidental Mutation

Incidental Mutation 'R9612:Unc13d'

724331

Institutional Source

Beutler Lab

Gene Symbol

Unc13d

Ensembl Gene

ENSMUSG00000057948

Gene Name

unc-13 homolog D

Synonyms

Jinx, 2610108D09Rik, Munc13-4

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9612 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115952921-115968787 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 115961144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 404 (Y404*)

Ref Sequence

ENSEMBL: ENSMUSP00000134260 (fasta)

Gene Model

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

AlphaFold

B2RUP2

Predicted Effect

probably null
Transcript: ENSMUST00000075036
AA Change: Y404*

SMART Domains

Protein: ENSMUSP00000074549
Gene: ENSMUSG00000057948
AA Change: Y404*

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 null
Transcript: ENSMUST00000106450
AA Change: Y404*

SMART Domains

Protein: ENSMUSP00000102058
Gene: ENSMUSG00000057948
AA Change: Y404*

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 null
Transcript: ENSMUST00000106451
AA Change: Y404*

SMART Domains

Protein: ENSMUSP00000102059
Gene: ENSMUSG00000057948
AA Change: Y404*

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 null
Transcript: ENSMUST00000173345
AA Change: Y404*

SMART Domains

Protein: ENSMUSP00000133679
Gene: ENSMUSG00000057948
AA Change: Y404*

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 null
Transcript: ENSMUST00000174822
AA Change: Y404*

SMART Domains

Protein: ENSMUSP00000134260
Gene: ENSMUSG00000057948
AA Change: Y404*

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: 99.9%
3x: 99.9%
10x: 99.5%
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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	C	7: 41,276,327 (GRCm39)	S677P	possibly damaging	Het
5730480H06Rik	A	G	5: 48,531,872 (GRCm39)	I67V	probably benign	Het
Adam15	T	A	3: 89,249,247 (GRCm39)	Y736F	probably damaging	Het
Adam29	A	T	8: 56,325,118 (GRCm39)	F445L	possibly damaging	Het
Adgrv1	A	G	13: 81,641,082 (GRCm39)	Y3318H	probably damaging	Het
Akap6	A	G	12: 52,958,690 (GRCm39)	Y815C	probably damaging	Het
Ankar	T	A	1: 72,704,294 (GRCm39)	D876V	possibly damaging	Het
Atp6v1g2	G	A	17: 35,456,733 (GRCm39)	V106I	probably benign	Het
Bdp1	A	G	13: 100,214,370 (GRCm39)	S490P	probably benign	Het
Bet1	A	T	6: 4,077,918 (GRCm39)	V107D	probably damaging	Het
Bri3bp	T	C	5: 125,531,390 (GRCm39)	V112A	probably damaging	Het
Cage1	T	A	13: 38,216,351 (GRCm39)	D33V	probably damaging	Het
Ccdc146	G	T	5: 21,535,577 (GRCm39)	A159E	probably damaging	Het
Ccnl1	C	A	3: 65,865,404 (GRCm39)	G49V	probably damaging	Het
Cdk13	A	C	13: 17,926,440 (GRCm39)	F787V		Het
Cdk5r1	T	C	11: 80,368,480 (GRCm39)	V49A	probably benign	Het
Cdon	G	A	9: 35,398,201 (GRCm39)	V973I	probably damaging	Het
Cfap298	A	T	16: 90,724,275 (GRCm39)	M166K	probably benign	Het
Chd1l	T	A	3: 97,488,463 (GRCm39)	K518*	probably null	Het
Col24a1	A	G	3: 145,250,960 (GRCm39)	D1653G	probably benign	Het
Cstf3	G	T	2: 104,483,370 (GRCm39)	V359F	possibly damaging	Het
Dchs2	T	C	3: 83,178,193 (GRCm39)	I1082T	probably damaging	Het
Dlec1	A	T	9: 118,956,533 (GRCm39)	I736F	probably damaging	Het
Dnah9	T	C	11: 65,818,475 (GRCm39)	N3288D	probably benign	Het
Dpcd	G	T	19: 45,560,422 (GRCm39)	E82*	probably null	Het
Ehbp1	T	C	11: 22,119,124 (GRCm39)	D182G	probably damaging	Het
Eif1ad13	A	G	12: 87,762,507 (GRCm39)	I76V	probably benign	Het
Evc2	G	T	5: 37,544,130 (GRCm39)	E626D	probably benign	Het
Evi5	T	C	5: 107,943,578 (GRCm39)	E589G	probably benign	Het
Exoc4	T	C	6: 33,226,161 (GRCm39)	I25T	probably benign	Het
Extl2	T	A	3: 115,821,145 (GRCm39)	*331R	probably null	Het
Fkbp8	G	A	8: 70,984,324 (GRCm39)	R225H	probably damaging	Het
Foxred2	A	T	15: 77,836,206 (GRCm39)	S384T	probably damaging	Het
Garre1	A	T	7: 33,947,656 (GRCm39)	C451S	probably damaging	Het
Glmn	T	C	5: 107,741,731 (GRCm39)	E18G	probably damaging	Het
Gm7489	A	C	15: 53,749,369 (GRCm39)	Q147P	unknown	Het
Gm7489	C	A	15: 53,749,368 (GRCm39)	Q147K	unknown	Het
Gm8005	T	A	14: 42,260,355 (GRCm39)	I94F		Het
Golgb1	G	A	16: 36,739,967 (GRCm39)	V2810M	probably benign	Het
Gpr21	T	C	2: 37,408,399 (GRCm39)	L315P	probably damaging	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Herc6	T	G	6: 57,629,017 (GRCm39)	S643A	probably benign	Het
Igkv14-100	T	A	6: 68,496,317 (GRCm39)	I70N	probably damaging	Het
Kcnn3	A	G	3: 89,516,703 (GRCm39)	M371V	probably benign	Het
Kif1a	T	A	1: 92,953,416 (GRCm39)	H1256L	probably damaging	Het
Klhdc4	A	G	8: 122,527,917 (GRCm39)	S266P	possibly damaging	Het
Kmt2d	CTGTTG	CTG	15: 98,743,057 (GRCm39)		probably benign	Het
Lefty2	T	A	1: 180,722,286 (GRCm39)	L208Q	probably damaging	Het
Lingo2	T	C	4: 35,708,450 (GRCm39)	Y510C	probably damaging	Het
Lrif1	T	A	3: 106,639,200 (GRCm39)	V70D	probably damaging	Het
Lrrc74a	A	T	12: 86,805,345 (GRCm39)	K389I	possibly damaging	Het
Megf8	A	T	7: 25,054,488 (GRCm39)	E1868V	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mmp8	A	G	9: 7,560,608 (GRCm39)	D95G	probably damaging	Het
Mmrn1	T	A	6: 60,953,408 (GRCm39)	I563N	probably damaging	Het
Mroh3	T	C	1: 136,118,713 (GRCm39)	T535A	probably benign	Het
Mroh9	A	G	1: 162,866,498 (GRCm39)	L715P	probably damaging	Het
Myh6	G	T	14: 55,201,054 (GRCm39)	A136E	probably benign	Het
Myom1	G	T	17: 71,412,475 (GRCm39)	E1231*	probably null	Het
Nod2	G	T	8: 89,397,101 (GRCm39)	C837F	probably benign	Het
Nos2	T	A	11: 78,839,984 (GRCm39)	W698R	probably damaging	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Oas1a	A	T	5: 121,040,028 (GRCm39)	S188T	possibly damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Opa1	T	C	16: 29,430,255 (GRCm39)	M394T		Het
Or1e1d-ps1	T	A	11: 73,819,375 (GRCm39)	D108E	possibly damaging	Het
Or5an6	A	T	19: 12,371,983 (GRCm39)	M119L	probably damaging	Het
Or5p66	A	G	7: 107,885,487 (GRCm39)	M282T	probably benign	Het
Or7g21	T	A	9: 19,032,760 (GRCm39)	S167T	probably benign	Het
Or7g29	A	G	9: 19,286,677 (GRCm39)	S167P	possibly damaging	Het
Oxct2a	T	A	4: 123,217,129 (GRCm39)	D84V	probably damaging	Het
Oxct2b	A	C	4: 123,011,019 (GRCm39)	D313A	probably damaging	Het
Phldb3	G	A	7: 24,328,372 (GRCm39)	V639M	probably damaging	Het
Plppr4	T	A	3: 117,115,610 (GRCm39)	N749I	probably benign	Het
Pmp22	G	T	11: 63,024,065 (GRCm39)	V25F	probably benign	Het
Pofut2	A	T	10: 77,101,763 (GRCm39)	M267L	probably benign	Het
Ppp1r42	T	A	1: 10,039,067 (GRCm39)	N351I	possibly damaging	Het
Prl2b1	T	C	13: 27,572,479 (GRCm39)	E37G	probably benign	Het
Ptpro	G	T	6: 137,391,318 (GRCm39)	V813F	probably benign	Het
Rnaseh2c	T	C	19: 5,652,343 (GRCm39)	F99L	probably benign	Het
Scn9a	T	A	2: 66,363,708 (GRCm39)	I857F	probably damaging	Het
Slf1	A	G	13: 77,197,204 (GRCm39)		probably null	Het
Smyd2	T	C	1: 189,612,983 (GRCm39)	*434W	probably null	Het
Spata31h1	T	A	10: 82,125,453 (GRCm39)	N2519I	possibly damaging	Het
Stk40	A	G	4: 126,030,650 (GRCm39)	D290G	probably damaging	Het
Tdo2	C	A	3: 81,879,001 (GRCm39)	W82C	probably damaging	Het
Tmem101	A	G	11: 102,044,194 (GRCm39)	V231A	probably damaging	Het
Tns2	G	A	15: 102,015,577 (GRCm39)	E160K	probably damaging	Het
Trim31	A	T	17: 37,212,551 (GRCm39)	D174V	probably benign	Het
Ush2a	C	A	1: 188,092,063 (GRCm39)	Y531*	probably null	Het
Vapa	G	A	17: 65,889,736 (GRCm39)	P144S	probably benign	Het
Vmn1r212	C	T	13: 23,067,443 (GRCm39)	V297M	possibly damaging	Het
Vmn2r80	A	C	10: 79,030,712 (GRCm39)	N846T	probably damaging	Het
Zfp811	A	G	17: 33,017,740 (GRCm39)	V100A	probably benign	Het
Zfp958	T	A	8: 4,678,298 (GRCm39)	C108S	probably damaging	Het
Zic5	G	A	14: 122,697,100 (GRCm39)	T505I	unknown	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
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
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'- AGATGTCTGTGACCCTGCTG -3'
(R):5'- ATGTTCCCACTGAGATGTGACG -3'

Sequencing Primer
(F):5'- TGCTGCTACCCAACTGGC -3'
(R):5'- CACTGAGATGTGACGTCCTG -3'

Posted On

2022-09-12