Mutagenetix > Incidental Mutations

Incidental Mutation 'R7132:Unc13b'

552735

Institutional Source

Beutler Lab

Gene Symbol

Unc13b

Ensembl Gene

ENSMUSG00000028456

Gene Name

unc-13 homolog B (C. elegans)

Synonyms

Unc13h2, Munc13-2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.306) question?

Stock #

R7132 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43058953-43264871 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43215757 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 19 (S19P)

Ref Sequence

ENSEMBL: ENSMUSP00000146589 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079978] [ENSMUST00000107952] [ENSMUST00000107953] [ENSMUST00000163653] [ENSMUST00000207569] [ENSMUST00000207708]

Predicted Effect

probably benign
Transcript: ENSMUST00000079978

SMART Domains

Protein: ENSMUSP00000078894
Gene: ENSMUSG00000028456

Domain	Start	End	E-Value	Type
C2	3	94	1.2e-9	SMART
low complexity region	179	193	N/A	INTRINSIC
low complexity region	292	303	N/A	INTRINSIC
low complexity region	322	333	N/A	INTRINSIC
C1	478	527	4.21e-18	SMART
C2	601	708	2.07e-22	SMART
DUF1041	917	1021	2.02e-53	SMART
Pfam:Membr_traf_MHD	1262	1404	4.8e-60	PFAM
C2	1438	1544	7.56e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107952

SMART Domains

Protein: ENSMUSP00000103586
Gene: ENSMUSG00000028456

Domain	Start	End	E-Value	Type
C2	3	94	1.2e-9	SMART
low complexity region	191	205	N/A	INTRINSIC
low complexity region	304	315	N/A	INTRINSIC
low complexity region	334	345	N/A	INTRINSIC
C1	490	539	4.21e-18	SMART
C2	613	720	2.07e-22	SMART
DUF1041	929	1033	2.02e-53	SMART
Pfam:Membr_traf_MHD	1274	1416	4.8e-60	PFAM
C2	1450	1556	7.56e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107953

SMART Domains

Protein: ENSMUSP00000103587
Gene: ENSMUSG00000028456

Domain	Start	End	E-Value	Type
C2	3	94	1.2e-9	SMART
low complexity region	179	193	N/A	INTRINSIC
low complexity region	292	303	N/A	INTRINSIC
low complexity region	322	333	N/A	INTRINSIC
C1	478	527	4.21e-18	SMART
C2	601	708	2.07e-22	SMART
DUF1041	917	1021	2.02e-53	SMART
Pfam:Membr_traf_MHD	1263	1403	2.3e-56	PFAM
C2	1457	1563	7.56e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163653

SMART Domains

Protein: ENSMUSP00000128608
Gene: ENSMUSG00000028456

Domain	Start	End	E-Value	Type
C2	3	94	1.2e-9	SMART
low complexity region	191	205	N/A	INTRINSIC
low complexity region	304	315	N/A	INTRINSIC
low complexity region	334	345	N/A	INTRINSIC
C1	490	539	4.21e-18	SMART
C2	613	720	2.07e-22	SMART
DUF1041	929	1032	4.64e-53	SMART
Pfam:Membr_traf_MHD	1273	1415	4.8e-60	PFAM
C2	1449	1555	7.56e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168032

SMART Domains

Protein: ENSMUSP00000132622
Gene: ENSMUSG00000028456

Domain	Start	End	E-Value	Type
C1	147	196	4.21e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207569

Predicted Effect

probably benign
Transcript: ENSMUST00000207708
AA Change: S19P

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is expressed in the kidney cortical epithelial cells and is upregulated by hyperglycemia. The encoded protein shares a high level of similarity to the rat homolog, and contains 3 C2 domains and a diacylglycerol-binding C1 domain. Hyperglycemia increases the levels of diacylglycerol, which has been shown to induce apoptosis in cells transfected with this gene and thus contribute to the renal cell complications of hyperglycemia. Studies in other species also indicate a role for this protein in the priming step of synaptic vesicle exocytosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are grossly phenotypically normal. Mice older than 12 months will exhibit sporadic seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	C	T	10: 69,989,914	A1471V		Het
Ankrd12	C	A	17: 65,983,247	M1730I	probably benign	Het
Ap2a2	T	C	7: 141,619,565	Y462H	probably benign	Het
Ap5b1	T	A	19: 5,569,384	Y277*	probably null	Het
App	T	C	16: 85,056,482	D236G	unknown	Het
Arid2	A	T	15: 96,350,013	K102I	possibly damaging	Het
Asl	A	G	5: 130,014,702	V211A	possibly damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,098,691		probably benign	Het
Cbx2	A	G	11: 119,023,121	S5G	probably benign	Het
Ccdc183	A	G	2: 25,616,530		probably null	Het
Cd72	T	C	4: 43,452,444	Q183R	possibly damaging	Het
Cdh26	T	A	2: 178,486,762	D702E	possibly damaging	Het
Cfap61	A	T	2: 146,109,950	N784I	probably damaging	Het
Cgrrf1	G	A	14: 46,853,864	V282M	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Cobll1	T	G	2: 65,133,768	K170Q	probably damaging	Het
Copg2	A	T	6: 30,815,996	V468D	probably benign	Het
Cracr2b	C	T	7: 141,463,738	A84V	probably benign	Het
Cyp2f2	A	T	7: 27,132,568	D416V	probably benign	Het
Dcaf10	T	C	4: 45,342,391	F75S	probably benign	Het
Eml3	G	T	19: 8,941,028	A829S	probably benign	Het
Entpd3	A	G	9: 120,561,020	T402A	probably benign	Het
Fer1l4	A	T	2: 156,045,626	V550E	probably damaging	Het
Fgb	G	A	3: 83,046,746	R62*	probably null	Het
Fubp1	T	A	3: 152,232,024		probably null	Het
Gdf3	A	C	6: 122,606,324	D361E	probably damaging	Het
Gm6685	A	T	11: 28,339,330	I162N	probably damaging	Het
Hmx2	A	G	7: 131,555,916	Y253C	probably damaging	Het
Ints2	G	T	11: 86,217,754	N922K	probably benign	Het
Ipo7	C	T	7: 110,054,047	L984F	probably benign	Het
Itgae	A	T	11: 73,111,358	Y96F	possibly damaging	Het
Kalrn	A	G	16: 34,256,227	V697A	unknown	Het
Kctd18	G	A	1: 57,967,578	R38*	probably null	Het
Kdm5b	A	G	1: 134,599,106	D322G	probably damaging	Het
Ldb3	A	G	14: 34,577,035	Y211H	probably benign	Het
Limch1	T	C	5: 66,953,685	F85S	probably damaging	Het
Lrrn4	A	T	2: 132,879,693	L68*	probably null	Het
Lrwd1	A	G	5: 136,123,275	V616A	possibly damaging	Het
Nars	A	G	18: 64,507,770		probably null	Het
Nradd	T	C	9: 110,622,261	D13G	probably benign	Het
Oacyl	A	T	18: 65,698,409	N39I	probably damaging	Het
Olfr1499	T	A	19: 13,815,422	Q56L	probably benign	Het
Onecut2	A	T	18: 64,340,912	H178L	possibly damaging	Het
Pcdhga4	A	C	18: 37,687,377	T660P	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pitpnm3	T	A	11: 72,051,276	I902F	possibly damaging	Het
Plod3	T	C	5: 136,995,117	L180S		Het
Prrc2c	A	T	1: 162,681,281	H2354Q	possibly damaging	Het
Pth2r	A	G	1: 65,322,066	E58G	probably benign	Het
Rev1	G	T	1: 38,071,449	D573E	possibly damaging	Het
Sec24a	A	T	11: 51,715,136	L696*	probably null	Het
Serpinb3c	A	G	1: 107,276,951	S22P	probably damaging	Het
St18	A	T	1: 6,859,127	H81L		Het
Stard9	A	T	2: 120,679,378	K266*	probably null	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Syne1	G	A	10: 5,243,180	A3956V	probably damaging	Het
Tcp10a	C	T	17: 7,344,952	T381I	probably benign	Het
Tecpr2	T	A	12: 110,915,372	V125D	probably damaging	Het
Tmc2	T	C	2: 130,232,409	S341P	possibly damaging	Het
Tmem190	G	A	7: 4,784,225	V143I	probably benign	Het
Trap1	A	G	16: 4,055,829	Y288H	probably benign	Het
Trim39	T	C	17: 36,260,655	T404A	probably benign	Het
Ttn	T	A	2: 76,745,699	K24950I	probably damaging	Het
Ttn	G	T	2: 76,944,352	N2161K	unknown	Het
Uqcrc1	T	A	9: 108,949,468	I471N	probably damaging	Het
Wbp11	T	C	6: 136,821,542	T170A	probably benign	Het
Wnk4	A	G	11: 101,261,200	I177V	probably benign	Het
Zfp455	C	A	13: 67,199,166	P51T	probably damaging	Het
Zfp946	T	C	17: 22,454,663	Y133H	probably benign	Het
Zfp955a	A	T	17: 33,241,615	Y514*	probably null	Het
Zzef1	T	C	11: 72,917,871		probably null	Het

Other mutations in Unc13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Unc13b	APN	4	43240285	missense	probably damaging	1.00
IGL00832:Unc13b	APN	4	43258921	missense	probably damaging	1.00
IGL01111:Unc13b	APN	4	43096927	missense	possibly damaging	0.76
IGL01115:Unc13b	APN	4	43258492	missense	probably damaging	1.00
IGL01137:Unc13b	APN	4	43091291	missense	probably damaging	1.00
IGL01637:Unc13b	APN	4	43241066	missense	probably damaging	1.00
IGL01789:Unc13b	APN	4	43239462	missense	probably damaging	1.00
IGL01792:Unc13b	APN	4	43250218	missense	probably damaging	0.99
IGL01877:Unc13b	APN	4	43249583	critical splice donor site	probably null
IGL01924:Unc13b	APN	4	43239385	nonsense	probably null
IGL02087:Unc13b	APN	4	43091270	missense	probably null	1.00
IGL02197:Unc13b	APN	4	43165828	missense	probably damaging	0.99
IGL02504:Unc13b	APN	4	43263031	missense	probably damaging	1.00
IGL02659:Unc13b	APN	4	43235332	missense	probably damaging	1.00
IGL03031:Unc13b	APN	4	43235368	missense	probably damaging	1.00
IGL03036:Unc13b	APN	4	43235249	missense	probably damaging	1.00
IGL03209:Unc13b	APN	4	43239351	missense	probably damaging	0.99
IGL03352:Unc13b	APN	4	43237110	missense	possibly damaging	0.90
BB006:Unc13b	UTSW	4	43174399	missense	unknown
BB016:Unc13b	UTSW	4	43174399	missense	unknown
P0028:Unc13b	UTSW	4	43256225	missense	probably damaging	1.00
PIT4585001:Unc13b	UTSW	4	43091298	missense	probably benign	0.03
R0019:Unc13b	UTSW	4	43096990	missense	possibly damaging	0.58
R0019:Unc13b	UTSW	4	43096990	missense	possibly damaging	0.58
R0335:Unc13b	UTSW	4	43236983	missense	possibly damaging	0.95
R0504:Unc13b	UTSW	4	43263559	missense	probably damaging	0.99
R0631:Unc13b	UTSW	4	43182849	missense	possibly damaging	0.47
R0748:Unc13b	UTSW	4	43241164	splice site	probably benign
R1275:Unc13b	UTSW	4	43235366	missense	probably damaging	1.00
R1293:Unc13b	UTSW	4	43235190	missense	probably damaging	1.00
R1434:Unc13b	UTSW	4	43239385	nonsense	probably null
R1552:Unc13b	UTSW	4	43237144	missense	probably damaging	0.99
R1591:Unc13b	UTSW	4	43244747	missense	probably damaging	1.00
R1628:Unc13b	UTSW	4	43263371	missense	probably damaging	1.00
R1740:Unc13b	UTSW	4	43240285	missense	probably damaging	1.00
R1839:Unc13b	UTSW	4	43258308	splice site	probably benign
R2045:Unc13b	UTSW	4	43091266	missense	probably damaging	1.00
R2191:Unc13b	UTSW	4	43245566	nonsense	probably null
R2259:Unc13b	UTSW	4	43182780	missense	possibly damaging	0.87
R2307:Unc13b	UTSW	4	43239854	missense	probably damaging	0.98
R2317:Unc13b	UTSW	4	43245514	missense	probably damaging	1.00
R2402:Unc13b	UTSW	4	43095843	missense	probably benign
R2847:Unc13b	UTSW	4	43180404	missense	probably benign	0.04
R3414:Unc13b	UTSW	4	43234658	splice site	probably benign
R3436:Unc13b	UTSW	4	43097028	splice site	probably benign
R3955:Unc13b	UTSW	4	43256834	missense	probably damaging	1.00
R3957:Unc13b	UTSW	4	43256834	missense	probably damaging	1.00
R4015:Unc13b	UTSW	4	43237801	missense	probably damaging	1.00
R4650:Unc13b	UTSW	4	43261035	missense	probably damaging	0.97
R4836:Unc13b	UTSW	4	43237137	missense	probably damaging	1.00
R5041:Unc13b	UTSW	4	43237836	missense	probably benign	0.41
R5413:Unc13b	UTSW	4	43257936	critical splice donor site	probably null
R5994:Unc13b	UTSW	4	43172596	intron	probably benign
R6015:Unc13b	UTSW	4	43177995	nonsense	probably null
R6090:Unc13b	UTSW	4	43239306	missense	probably damaging	1.00
R6242:Unc13b	UTSW	4	43165800	missense	possibly damaging	0.92
R6246:Unc13b	UTSW	4	43216246	missense	probably benign	0.18
R6427:Unc13b	UTSW	4	43176966	unclassified	probably benign
R6660:Unc13b	UTSW	4	43177412	unclassified	probably benign
R6670:Unc13b	UTSW	4	43255562	missense	probably damaging	0.99
R6753:Unc13b	UTSW	4	43239331	missense	probably damaging	1.00
R6858:Unc13b	UTSW	4	43165828	missense	possibly damaging	0.85
R6886:Unc13b	UTSW	4	43170156	intron	probably benign
R6969:Unc13b	UTSW	4	43263538	missense	possibly damaging	0.94
R6994:Unc13b	UTSW	4	43171403	intron	probably benign
R6994:Unc13b	UTSW	4	43173203	intron	probably benign
R7080:Unc13b	UTSW	4	43171926	missense	unknown
R7117:Unc13b	UTSW	4	43216544	missense	probably benign	0.33
R7181:Unc13b	UTSW	4	43258893	missense	probably damaging	0.99
R7192:Unc13b	UTSW	4	43258519	missense	probably damaging	1.00
R7246:Unc13b	UTSW	4	43172910	missense	unknown
R7342:Unc13b	UTSW	4	43258703	missense	probably damaging	0.99
R7345:Unc13b	UTSW	4	43173966	missense	unknown
R7355:Unc13b	UTSW	4	43237754	missense	probably damaging	1.00
R7391:Unc13b	UTSW	4	43216459	missense	probably benign	0.03
R7419:Unc13b	UTSW	4	43174023	missense	unknown
R7424:Unc13b	UTSW	4	43172235	missense	unknown
R7517:Unc13b	UTSW	4	43215765	missense	probably benign
R7532:Unc13b	UTSW	4	43249565	missense	probably benign	0.44
R7564:Unc13b	UTSW	4	43091258	missense	probably damaging	1.00
R7598:Unc13b	UTSW	4	43263569	missense	probably benign	0.20
R7604:Unc13b	UTSW	4	43170102	missense	unknown
R7604:Unc13b	UTSW	4	43256776	missense	possibly damaging	0.95
R7643:Unc13b	UTSW	4	43216333	missense	probably benign
R7718:Unc13b	UTSW	4	43173854	missense	unknown
R7735:Unc13b	UTSW	4	43165791	missense	probably damaging	1.00
R7756:Unc13b	UTSW	4	43177312	small deletion	probably benign
R7757:Unc13b	UTSW	4	43177312	small deletion	probably benign
R7757:Unc13b	UTSW	4	43177330	small insertion	probably benign
R7757:Unc13b	UTSW	4	43177341	small insertion	probably benign
R7758:Unc13b	UTSW	4	43177312	small insertion	probably benign
R7758:Unc13b	UTSW	4	43177344	small insertion	probably benign
R7781:Unc13b	UTSW	4	43259546	missense	possibly damaging	0.87
R7793:Unc13b	UTSW	4	43172737	missense	unknown
R7858:Unc13b	UTSW	4	43176285	missense	unknown
R7867:Unc13b	UTSW	4	43232573	nonsense	probably null
R7897:Unc13b	UTSW	4	43171860	missense	unknown
R7904:Unc13b	UTSW	4	43217075	missense	probably benign
R7929:Unc13b	UTSW	4	43174399	missense	unknown
R7984:Unc13b	UTSW	4	43173973	missense	unknown
R8069:Unc13b	UTSW	4	43177597	missense	unknown
R8101:Unc13b	UTSW	4	43239918	missense	probably benign	0.08
R8246:Unc13b	UTSW	4	43175954	missense	unknown
R8289:Unc13b	UTSW	4	43172524	nonsense	probably null
R8301:Unc13b	UTSW	4	43263568	missense	probably benign
R8397:Unc13b	UTSW	4	43217290	missense	probably benign	0.12
R8421:Unc13b	UTSW	4	43178304	missense	unknown
RF016:Unc13b	UTSW	4	43177347	small insertion	probably benign
RF016:Unc13b	UTSW	4	43177350	small insertion	probably benign
RF041:Unc13b	UTSW	4	43177338	small insertion	probably benign
RF056:Unc13b	UTSW	4	43177359	small insertion	probably benign
Z1176:Unc13b	UTSW	4	43171419	missense	unknown
Z1176:Unc13b	UTSW	4	43177191	missense	unknown
Z1176:Unc13b	UTSW	4	43177764	missense	unknown
Z1176:Unc13b	UTSW	4	43261043	missense	probably benign	0.11
Z1177:Unc13b	UTSW	4	43173669	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTGAGGCTTCAACTAGCAATAGTC -3'
(R):5'- GGCTTGCTGCTCAAAGCTAC -3'

Sequencing Primer
(F):5'- TAGCAATAGTCGTTAAAAGCCAATCC -3'
(R):5'- TGCTGCTCAAAGCTACAAAGTTGG -3'

Posted On

2019-05-15