Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02904:Unc13c'

363753

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Unc13c

Ensembl Gene

ENSMUSG00000062151

Gene Name

unc-13 homolog C (C. elegans)

Synonyms

Munc13-3, Unc13h3, 1500037O19Rik, D9Ertd414e

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02904

Quality Score

Status

Chromosome

Chromosomal Location

73479422-73968966 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 73481067 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 2146 (G2146*)

Ref Sequence

ENSEMBL: ENSMUSP00000139027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075245] [ENSMUST00000184666]

Predicted Effect

probably null
Transcript: ENSMUST00000075245
AA Change: G2146*

SMART Domains

Protein: ENSMUSP00000074726
Gene: ENSMUSG00000062151
AA Change: G2146*

Domain	Start	End	E-Value	Type
low complexity region	109	127	N/A	INTRINSIC
low complexity region	153	164	N/A	INTRINSIC
low complexity region	273	287	N/A	INTRINSIC
low complexity region	464	491	N/A	INTRINSIC
low complexity region	678	694	N/A	INTRINSIC
C1	1094	1143	1.37e-17	SMART
C2	1217	1324	1.46e-22	SMART
DUF1041	1535	1642	3.18e-51	SMART
Blast:DUF1041	1714	1838	2e-49	BLAST
Pfam:Membr_traf_MHD	1883	2023	2.6e-50	PFAM
C2	2058	2164	4.15e-13	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000184666
AA Change: G2146*

SMART Domains

Protein: ENSMUSP00000139027
Gene: ENSMUSG00000062151
AA Change: G2146*

Domain	Start	End	E-Value	Type
low complexity region	109	127	N/A	INTRINSIC
low complexity region	153	164	N/A	INTRINSIC
low complexity region	273	287	N/A	INTRINSIC
low complexity region	464	491	N/A	INTRINSIC
low complexity region	678	694	N/A	INTRINSIC
C1	1094	1143	1.37e-17	SMART
C2	1217	1324	1.46e-22	SMART
DUF1041	1535	1642	3.18e-51	SMART
Blast:DUF1041	1714	1838	2e-49	BLAST
Pfam:Membr_traf_MHD	1882	2024	8.3e-59	PFAM
C2	2058	2164	4.15e-13	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutant mice demonstrate an impaired ability to learn complex motor tasks, putatively due to an observed increase in paired-pulse facilitation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,484,454	S564P	probably damaging	Het
A1cf	A	C	19: 31,934,806	K432N	probably damaging	Het
Acp7	A	T	7: 28,608,003	D476E	probably benign	Het
Aqp9	T	A	9: 71,138,148	I60F	probably damaging	Het
B2m	A	C	2: 122,151,161		probably benign	Het
B3galt1	T	A	2: 68,118,745	V268E	probably damaging	Het
BC037034	C	T	5: 138,260,602	V232I	probably benign	Het
Cacna1a	T	C	8: 84,579,520	L1299P	probably damaging	Het
Ces2e	C	T	8: 104,931,338	P356L	probably benign	Het
Crmp1	A	T	5: 37,288,918	K639N	possibly damaging	Het
Ddx17	G	A	15: 79,530,437	R510*	probably null	Het
Dner	C	T	1: 84,534,944	V301M	probably damaging	Het
Efr3b	T	G	12: 3,984,583	I196L	probably damaging	Het
Fat1	T	C	8: 45,040,682	V3955A	probably damaging	Het
Gid4	T	C	11: 60,417,735	I27T	probably benign	Het
Glis3	A	G	19: 28,357,952	F571L	possibly damaging	Het
Gm4950	T	C	18: 51,865,731	I51V	probably benign	Het
Gm5592	T	C	7: 41,288,386	L364P	probably damaging	Het
Gm884	A	C	11: 103,616,361		probably benign	Het
Gucy2d	G	A	7: 98,462,189		probably null	Het
Kpna6	A	G	4: 129,650,687	I411T	probably benign	Het
Lcn11	A	G	2: 25,779,266	D145G	probably null	Het
Med12	A	G	X: 101,294,178		probably null	Het
Mtor	A	G	4: 148,491,612		probably benign	Het
Mtor	A	G	4: 148,452,394	K42E	possibly damaging	Het
Mybpc2	T	C	7: 44,522,341	D55G	probably benign	Het
Myo1f	T	A	17: 33,585,658	C445*	probably null	Het
Naca	C	T	10: 128,043,290		probably benign	Het
Nlgn2	T	C	11: 69,825,840	Y625C	possibly damaging	Het
Nlrp9c	A	T	7: 26,375,290	C827S	probably damaging	Het
Nudt12	T	A	17: 59,010,352	N100I	probably benign	Het
Olfr1009	T	C	2: 85,721,755	S117P	probably damaging	Het
Olfr224	T	A	11: 58,566,797	T183S	possibly damaging	Het
Olfr284	A	T	15: 98,340,848	L31Q	probably null	Het
Olfr77	A	T	9: 19,921,097	D296V	probably damaging	Het
Picalm	G	A	7: 90,176,411		probably benign	Het
Pkd1l1	A	G	11: 8,868,450		probably benign	Het
Scube3	T	C	17: 28,167,600	V831A	probably benign	Het
Slco5a1	A	G	1: 12,921,097	I456T	probably damaging	Het
Snx3	A	G	10: 42,534,694	H110R	probably damaging	Het
Spef2	T	C	15: 9,679,346	D635G	probably damaging	Het
St3gal5	A	T	6: 72,147,124	I212L	possibly damaging	Het
Syvn1	T	A	19: 6,049,815	Y192*	probably null	Het
Tmem2	G	A	19: 21,823,843	D775N	possibly damaging	Het
Tmtc1	A	G	6: 148,249,482		probably benign	Het
Trip11	T	G	12: 101,886,838	E499D	probably damaging	Het
Ttn	A	T	2: 76,732,031	N28823K	probably damaging	Het
Ush2a	G	T	1: 188,906,506	V4038L	probably benign	Het
Zc3h7a	T	G	16: 11,150,666	D483A	probably damaging	Het
Zfyve19	T	C	2: 119,210,472		probably benign	Het

Other mutations in Unc13c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Unc13c	APN	9	73736703	missense	probably damaging	0.99
IGL00693:Unc13c	APN	9	73758602	missense	probably benign	0.18
IGL01022:Unc13c	APN	9	73517328	missense	probably benign	0.06
IGL01088:Unc13c	APN	9	73932281	missense	possibly damaging	0.63
IGL01123:Unc13c	APN	9	73933197	missense	probably benign	0.05
IGL01131:Unc13c	APN	9	73564053	missense	probably benign
IGL01135:Unc13c	APN	9	73484893	missense	probably damaging	1.00
IGL01393:Unc13c	APN	9	73540270	missense	probably benign	0.06
IGL01752:Unc13c	APN	9	73931811	missense	probably benign	0.01
IGL01893:Unc13c	APN	9	73693366	missense	probably benign	0.15
IGL01897:Unc13c	APN	9	73546027	missense	probably damaging	0.99
IGL01936:Unc13c	APN	9	73693242	missense	probably benign	0.07
IGL02122:Unc13c	APN	9	73734397	splice site	probably benign
IGL02341:Unc13c	APN	9	73933210	missense	possibly damaging	0.76
IGL02434:Unc13c	APN	9	73932628	missense	probably benign	0.01
IGL02545:Unc13c	APN	9	73481075	missense	probably damaging	0.98
IGL02709:Unc13c	APN	9	73558956	missense	probably benign	0.00
IGL02815:Unc13c	APN	9	73540263	missense	possibly damaging	0.83
IGL03117:Unc13c	APN	9	73534025	missense	probably benign	0.03
IGL03260:Unc13c	APN	9	73931344	missense	probably benign	0.11
feeling	UTSW	9	73693271	missense	possibly damaging	0.46
Inkling	UTSW	9	73931844	missense	probably damaging	1.00
notion	UTSW	9	73736562	missense	probably damaging	1.00
BB001:Unc13c	UTSW	9	73734408	missense	probably benign	0.05
BB011:Unc13c	UTSW	9	73734408	missense	probably benign	0.05
PIT4431001:Unc13c	UTSW	9	73749547	missense	probably damaging	0.99
PIT4651001:Unc13c	UTSW	9	73483739	missense	possibly damaging	0.48
R0017:Unc13c	UTSW	9	73693301	missense	probably benign	0.07
R0039:Unc13c	UTSW	9	73669565	splice site	probably benign
R0164:Unc13c	UTSW	9	73694892	missense	probably benign	0.01
R0164:Unc13c	UTSW	9	73694892	missense	probably benign	0.01
R0308:Unc13c	UTSW	9	73481118	missense	probably benign	0.04
R0344:Unc13c	UTSW	9	73930785	missense	probably benign	0.39
R0421:Unc13c	UTSW	9	73933210	missense	possibly damaging	0.76
R0606:Unc13c	UTSW	9	73530983	splice site	probably benign
R0655:Unc13c	UTSW	9	73930953	missense	probably damaging	0.96
R1013:Unc13c	UTSW	9	73933332	missense	probably benign	0.45
R1293:Unc13c	UTSW	9	73574074	missense	probably benign	0.06
R1493:Unc13c	UTSW	9	73639068	missense	probably benign	0.27
R1675:Unc13c	UTSW	9	73639050	critical splice donor site	probably null
R1789:Unc13c	UTSW	9	73756339	missense	possibly damaging	0.92
R2001:Unc13c	UTSW	9	73483615	splice site	probably null
R2055:Unc13c	UTSW	9	73736550	missense	probably damaging	1.00
R2060:Unc13c	UTSW	9	73665656	missense	probably damaging	0.99
R2420:Unc13c	UTSW	9	73931547	missense	probably damaging	0.97
R2421:Unc13c	UTSW	9	73931547	missense	probably damaging	0.97
R2422:Unc13c	UTSW	9	73931547	missense	probably damaging	0.97
R3415:Unc13c	UTSW	9	73932586	missense	probably benign	0.00
R3423:Unc13c	UTSW	9	73930653	missense	possibly damaging	0.46
R3820:Unc13c	UTSW	9	73930958	missense	probably benign	0.00
R3857:Unc13c	UTSW	9	73699108	nonsense	probably null
R3859:Unc13c	UTSW	9	73699108	nonsense	probably null
R3895:Unc13c	UTSW	9	73933523	missense	probably benign
R4038:Unc13c	UTSW	9	73533906	critical splice donor site	probably null
R4077:Unc13c	UTSW	9	73736539	nonsense	probably null
R4125:Unc13c	UTSW	9	73574007	critical splice donor site	probably null
R4128:Unc13c	UTSW	9	73734537	missense	probably damaging	1.00
R4235:Unc13c	UTSW	9	73530952	missense	possibly damaging	0.68
R4295:Unc13c	UTSW	9	73734504	missense	probably damaging	1.00
R4307:Unc13c	UTSW	9	73693367	missense	probably benign	0.06
R4658:Unc13c	UTSW	9	73932826	missense	probably damaging	1.00
R4694:Unc13c	UTSW	9	73572354	missense	probably benign	0.00
R4735:Unc13c	UTSW	9	73693338	missense	probably benign	0.00
R4744:Unc13c	UTSW	9	73931844	missense	probably damaging	1.00
R4795:Unc13c	UTSW	9	73932187	missense	probably damaging	0.97
R4827:Unc13c	UTSW	9	73931286	missense	probably damaging	1.00
R4838:Unc13c	UTSW	9	73932072	missense	possibly damaging	0.68
R4869:Unc13c	UTSW	9	73680434	missense	probably benign	0.02
R4873:Unc13c	UTSW	9	73517284	missense	probably damaging	0.98
R4875:Unc13c	UTSW	9	73517284	missense	probably damaging	0.98
R4876:Unc13c	UTSW	9	73749539	missense	probably damaging	1.00
R4905:Unc13c	UTSW	9	73680392	missense	probably benign
R4912:Unc13c	UTSW	9	73574022	missense	probably damaging	0.99
R5026:Unc13c	UTSW	9	73930903	missense	possibly damaging	0.74
R5127:Unc13c	UTSW	9	73933372	missense	probably benign	0.26
R5151:Unc13c	UTSW	9	73931475	missense	probably benign	0.02
R5171:Unc13c	UTSW	9	73757954	missense	probably benign
R5244:Unc13c	UTSW	9	73525951	critical splice donor site	probably null
R5342:Unc13c	UTSW	9	73930823	missense	probably benign	0.00
R5399:Unc13c	UTSW	9	73749688	missense	possibly damaging	0.95
R5409:Unc13c	UTSW	9	73578390	missense	possibly damaging	0.78
R5460:Unc13c	UTSW	9	73545989	missense	probably benign
R5680:Unc13c	UTSW	9	73932602	missense	probably damaging	1.00
R5681:Unc13c	UTSW	9	73546075	splice site	probably null
R5728:Unc13c	UTSW	9	73558956	missense	probably benign	0.01
R5762:Unc13c	UTSW	9	73812367	missense	probably benign	0.00
R5764:Unc13c	UTSW	9	73533903	splice site	probably null
R5829:Unc13c	UTSW	9	73693368	missense	probably benign	0.15
R5894:Unc13c	UTSW	9	73693204	critical splice donor site	probably null
R5936:Unc13c	UTSW	9	73578492	missense	probably damaging	1.00
R6043:Unc13c	UTSW	9	73736651	missense	possibly damaging	0.88
R6046:Unc13c	UTSW	9	73930884	missense	probably benign
R6148:Unc13c	UTSW	9	73693366	missense	probably benign	0.15
R6207:Unc13c	UTSW	9	73758628	missense	possibly damaging	0.89
R6277:Unc13c	UTSW	9	73699169	missense	probably damaging	1.00
R6338:Unc13c	UTSW	9	73734447	missense	probably damaging	0.99
R6615:Unc13c	UTSW	9	73930608	missense	possibly damaging	0.63
R6978:Unc13c	UTSW	9	73931977	missense	probably benign	0.39
R7053:Unc13c	UTSW	9	73932297	missense	probably damaging	1.00
R7223:Unc13c	UTSW	9	73629191	missense	probably benign	0.44
R7259:Unc13c	UTSW	9	73517363	missense	probably benign	0.00
R7353:Unc13c	UTSW	9	73574073	missense	probably benign	0.00
R7357:Unc13c	UTSW	9	73933528	small insertion	probably benign
R7357:Unc13c	UTSW	9	73933529	small insertion	probably benign
R7607:Unc13c	UTSW	9	73669535	missense	probably damaging	0.98
R7626:Unc13c	UTSW	9	73734517	missense	probably damaging	1.00
R7639:Unc13c	UTSW	9	73933168	missense	probably damaging	0.99
R7657:Unc13c	UTSW	9	73533903	splice site	probably null
R7665:Unc13c	UTSW	9	73680474	missense	probably benign	0.28
R7704:Unc13c	UTSW	9	73699212	missense	probably benign	0.27
R7776:Unc13c	UTSW	9	73694950	missense	probably damaging	1.00
R7811:Unc13c	UTSW	9	73693271	missense	possibly damaging	0.46
R7833:Unc13c	UTSW	9	73481109	missense	possibly damaging	0.53
R7839:Unc13c	UTSW	9	73933314	missense	possibly damaging	0.63
R7869:Unc13c	UTSW	9	73694877	missense	probably damaging	1.00
R7924:Unc13c	UTSW	9	73734408	missense	probably benign	0.05
R8047:Unc13c	UTSW	9	73812354	nonsense	probably null
R8167:Unc13c	UTSW	9	73736703	missense	probably damaging	0.99
R8202:Unc13c	UTSW	9	73736562	missense	probably damaging	1.00
R8210:Unc13c	UTSW	9	73484938	missense	probably benign	0.13
R8352:Unc13c	UTSW	9	73931008	missense	probably damaging	0.99
R8368:Unc13c	UTSW	9	73930788	missense	probably benign	0.15
R8452:Unc13c	UTSW	9	73931008	missense	probably damaging	0.99
R8535:Unc13c	UTSW	9	73540371	missense	probably benign
R8677:Unc13c	UTSW	9	73932961	missense	probably benign	0.00
R8700:Unc13c	UTSW	9	73572397	missense	probably benign	0.44
R8848:Unc13c	UTSW	9	73525981	missense	probably benign

Posted On

2015-12-18