Mutagenetix > Incidental Mutation

Incidental Mutation 'R1675:Unc13c'

188005

Institutional Source

Beutler Lab

Gene Symbol

Unc13c

Ensembl Gene

ENSMUSG00000062151

Gene Name

unc-13 homolog C (C. elegans)

Synonyms

Munc13-3, Unc13h3, 1500037O19Rik, D9Ertd414e

MMRRC Submission

039711-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1675 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73479422-73968966 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 73639050 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139027 (fasta)

Gene Model

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

AlphaFold

Q8K0T7

Predicted Effect

probably null
Transcript: ENSMUST00000075245

SMART Domains

Protein: ENSMUSP00000074726
Gene: ENSMUSG00000062151

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

SMART Domains

Protein: ENSMUSP00000139027
Gene: ENSMUSG00000062151

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

1x: 99.2%
3x: 98.5%
10x: 96.5%
20x: 93.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,263,411		probably null	Het
Adam6b	T	C	12: 113,491,044	Y494H	probably benign	Het
Adamtsl2	GC	G	2: 27,082,485		probably null	Het
Anapc2	G	A	2: 25,272,639	V42M	possibly damaging	Het
Aph1a	T	A	3: 95,894,899	D64E	possibly damaging	Het
Arhgef11	C	T	3: 87,731,211	A1111V	possibly damaging	Het
Atoh1	T	C	6: 64,730,157	S279P	probably benign	Het
Atp10b	A	G	11: 43,225,648	T941A	probably damaging	Het
Barhl1	C	T	2: 28,915,411	R90Q	possibly damaging	Het
Calr3	T	C	8: 72,431,458	D91G	probably damaging	Het
Ccdc148	T	C	2: 58,980,554	D317G	probably damaging	Het
Cnn3	C	T	3: 121,457,169	Q19*	probably null	Het
Cul5	T	C	9: 53,646,683	D207G	probably benign	Het
Cyp4x1	T	C	4: 115,127,560	E41G	possibly damaging	Het
Dagla	T	A	19: 10,269,323	M138L	probably benign	Het
Dnah6	A	T	6: 73,129,540	M1738K	probably damaging	Het
Eif4enif1	T	A	11: 3,215,686	S88T	probably benign	Het
Eno3	T	C	11: 70,658,666		probably null	Het
Erbb3	C	A	10: 128,571,204	S1029I	probably damaging	Het
Erbin	C	A	13: 103,841,178	V624L	probably damaging	Het
Fam170b	C	T	14: 32,835,402	Q65*	probably null	Het
Fam208b	T	C	13: 3,569,507	I2241M	possibly damaging	Het
Gin1	T	A	1: 97,786,055	L360*	probably null	Het
Gldc	A	T	19: 30,143,453	D359E	probably damaging	Het
Gpr107	A	T	2: 31,167,051	T52S	possibly damaging	Het
Hip1r	A	G	5: 123,994,820	Y227C	probably damaging	Het
Hmgxb3	A	G	18: 61,135,559	L1004P	probably damaging	Het
Hspa1l	A	G	17: 34,977,443	N153D	probably damaging	Het
Itga8	C	A	2: 12,200,163	V488L	probably damaging	Het
Kcnk10	G	A	12: 98,496,288	A134V	probably benign	Het
Kif18a	T	A	2: 109,298,403	C406S	probably benign	Het
Klhl28	A	T	12: 64,951,819	S300R	probably damaging	Het
Kmt2e	C	T	5: 23,482,453	Q434*	probably null	Het
Lilrb4a	A	G	10: 51,496,185	T222A	probably benign	Het
Lipn	G	A	19: 34,080,710	R277Q	probably damaging	Het
Lrrc61	G	A	6: 48,568,774	R177Q	possibly damaging	Het
Lrrc74a	G	A	12: 86,741,026	E144K	probably damaging	Het
Mal	T	C	2: 127,635,044	Y77C	probably benign	Het
Map1a	T	A	2: 121,302,655	C1079*	probably null	Het
Mbd5	T	A	2: 49,256,218	S147T	possibly damaging	Het
Nsd2	T	A	5: 33,861,149	M509K	probably benign	Het
Olfr1342	C	T	4: 118,689,948	R168H	probably benign	Het
Olfr262	C	T	19: 12,240,831	V277I	probably benign	Het
Olfr414	T	C	1: 174,431,097	V223A	probably benign	Het
Olfr51	T	C	11: 51,007,637	F222L	probably benign	Het
Rcor2	C	T	19: 7,270,181	L45F	probably damaging	Het
Rpl12	T	A	2: 32,963,525	D107E	probably benign	Het
Rpl7l1	A	T	17: 46,778,191	F205I	probably damaging	Het
Samd4b	C	T	7: 28,414,010	G177R	probably damaging	Het
Sema4a	A	T	3: 88,454,766	F18I	possibly damaging	Het
Slc37a1	A	T	17: 31,338,074	T405S	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Syt14	T	C	1: 192,897,482	D781G	probably damaging	Het
Tprn	T	G	2: 25,264,409	D574E	probably benign	Het
Trim75	T	A	8: 64,982,511	E429V	probably damaging	Het
Trit1	C	T	4: 123,054,236	R450C	possibly damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Usp49	C	A	17: 47,673,410	L447I	probably damaging	Het
Vmn1r20	T	C	6: 57,431,952	C88R	probably benign	Het
Zfp94	T	A	7: 24,302,834	K394N	probably damaging	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
IGL02904:Unc13c	APN	9	73481067	nonsense	probably null
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
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
R8902:Unc13c	UTSW	9	73749548	missense	probably damaging	0.97
R8953:Unc13c	UTSW	9	73932762	missense	probably benign	0.00
R8961:Unc13c	UTSW	9	73932242	missense	probably benign	0.06
R9015:Unc13c	UTSW	9	73546040	missense	probably benign
R9114:Unc13c	UTSW	9	73812383	missense	probably benign	0.02
R9217:Unc13c	UTSW	9	73578433	missense	probably damaging	1.00
R9252:Unc13c	UTSW	9	73517271	missense	possibly damaging	0.80
R9273:Unc13c	UTSW	9	73932580	missense	possibly damaging	0.96
R9317:Unc13c	UTSW	9	73540380	missense	possibly damaging	0.88
R9412:Unc13c	UTSW	9	73932490	missense	probably benign
R9505:Unc13c	UTSW	9	73931542	missense	probably benign	0.22
R9516:Unc13c	UTSW	9	73484938	missense	probably damaging	0.99
R9528:Unc13c	UTSW	9	73930678	missense	possibly damaging	0.48
R9567:Unc13c	UTSW	9	73629203	missense	probably damaging	0.99
R9756:Unc13c	UTSW	9	73932244	missense	probably benign	0.23
R9783:Unc13c	UTSW	9	73484945	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- AGGCTTTCTTGGCCTGGAAAGAC -3'
(R):5'- GCGACTGAAACCTTCCTGTTTGACC -3'

Sequencing Primer
(F):5'- CTCAACAGTAAGACTGGATCTGTG -3'
(R):5'- GAAACCTTCCTGTTTGACCTCTTTTG -3'

Posted On

2014-05-09