Mutagenetix > Incidental Mutation

Incidental Mutation 'R0308:Unc13c'

24977

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

038518-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0308 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73479422-73968966 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 73481118 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 2129 (L2129I)

Ref Sequence

ENSEMBL: ENSMUSP00000139027 (fasta)

Gene Model

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

AlphaFold

Q8K0T7

Predicted Effect

probably benign
Transcript: ENSMUST00000075245
AA Change: L2129I

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000074726
Gene: ENSMUSG00000062151
AA Change: L2129I

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 benign
Transcript: ENSMUST00000184666
AA Change: L2129I

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000139027
Gene: ENSMUSG00000062151
AA Change: L2129I

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

Meta Mutation Damage Score

0.4753

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.1%
20x: 89.5%

Validation Efficiency

100% (82/82)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,450,989	D65V	probably damaging	Het
4933407L21Rik	A	T	1: 85,931,286		probably benign	Het
Abcc12	C	T	8: 86,557,752		probably benign	Het
Adamts12	A	G	15: 11,311,560	E1301G	probably damaging	Het
Adh4	A	T	3: 138,424,102	N230Y	probably damaging	Het
Anapc15-ps	T	A	10: 95,673,092	M109L	probably benign	Het
Angpt2	T	C	8: 18,692,125	I472V	possibly damaging	Het
Arhgef26	C	A	3: 62,340,399	D301E	probably benign	Het
Armc10	G	A	5: 21,647,297		probably benign	Het
Arntl	A	T	7: 113,291,536	I179F	probably damaging	Het
Atm	T	C	9: 53,454,473		probably null	Het
Atp5b	T	C	10: 128,086,039	V265A	probably benign	Het
Atp8b1	G	T	18: 64,545,244	C860*	probably null	Het
Atrnl1	T	G	19: 57,753,288	S1160A	probably benign	Het
Cep55	A	G	19: 38,060,211	E105G	possibly damaging	Het
Cfap54	C	A	10: 92,885,364	D2502Y	unknown	Het
Cilp2	A	G	8: 69,882,993	S452P	probably benign	Het
Clptm1l	A	G	13: 73,611,667	D282G	possibly damaging	Het
Csrp1	C	A	1: 135,745,286	T47N	probably damaging	Het
Cyp2c40	T	A	19: 39,777,988	I388F	probably damaging	Het
Dars	C	T	1: 128,364,259	R494H	probably damaging	Het
Dna2	T	C	10: 62,956,974	V256A	probably damaging	Het
Dock7	T	C	4: 98,984,814	T1132A	probably benign	Het
Elk3	A	T	10: 93,265,205	M228K	probably benign	Het
Erich6	A	G	3: 58,636,104	F182L	probably damaging	Het
Fhad1	A	G	4: 141,985,593		probably benign	Het
Fryl	A	T	5: 73,041,604		probably benign	Het
Fzd9	A	T	5: 135,249,406	C542S	probably damaging	Het
Gba	A	G	3: 89,208,364	T460A	probably benign	Het
Gli2	C	T	1: 118,842,062	A587T	probably benign	Het
Gm10037	A	G	13: 67,843,113		probably benign	Het
Gm11011	C	T	2: 169,582,694		probably benign	Het
Gm17018	T	G	19: 45,577,006	F140V	probably damaging	Het
Gm9745	T	G	13: 8,940,841		probably benign	Het
Gmppb	A	G	9: 108,049,834	E68G	probably benign	Het
Gpld1	A	G	13: 24,962,835	N260S	possibly damaging	Het
Hipk3	G	A	2: 104,433,207	S900L	probably damaging	Het
Ints6l	A	T	X: 56,481,355	M215L	possibly damaging	Het
Irx6	T	A	8: 92,677,031	L128Q	probably damaging	Het
Itga10	T	C	3: 96,651,464	S373P	probably damaging	Het
Jak1	T	C	4: 101,154,535		probably null	Het
Jak2	C	T	19: 29,311,757	T1103I	probably benign	Het
Katnal1	A	T	5: 148,878,924	V401D	possibly damaging	Het
Lrp2	T	A	2: 69,482,982		probably benign	Het
Map3k13	A	G	16: 21,891,988	H7R	probably benign	Het
Mrgprx3-ps	A	G	7: 47,310,018	V75A	probably benign	Het
Nol6	C	T	4: 41,123,584	A55T	probably benign	Het
Olfr881	A	G	9: 37,992,845	I118V	probably benign	Het
Opa1	G	A	16: 29,621,531	R818Q	probably damaging	Het
Opn4	T	C	14: 34,597,124	Y168C	possibly damaging	Het
Phf21a	T	C	2: 92,330,777	V330A	possibly damaging	Het
Phykpl	A	G	11: 51,593,596		probably benign	Het
Plcb1	T	G	2: 134,813,614	V38G	probably benign	Het
Plxna4	T	A	6: 32,237,768	T593S	probably benign	Het
Poll	A	T	19: 45,555,965	I339N	probably damaging	Het
Rev3l	A	G	10: 39,824,894	I1796V	probably benign	Het
Rnf103	G	A	6: 71,509,702	R439H	probably damaging	Het
Rrn3	G	A	16: 13,799,882		probably benign	Het
Sec14l4	G	A	11: 4,041,726		probably benign	Het
Sec23a	A	C	12: 59,007,199	Y4*	probably null	Het
Senp6	T	C	9: 80,132,983		probably null	Het
Serpinb6b	A	T	13: 32,978,237	N221Y	probably benign	Het
Slc6a2	A	G	8: 92,961,360	E38G	possibly damaging	Het
Smap1	A	T	1: 23,849,342	L196I	probably damaging	Het
Sorbs2	C	T	8: 45,795,130	Q473*	probably null	Het
Sphkap	C	A	1: 83,276,969	V1020F	probably damaging	Het
Srfbp1	T	C	18: 52,488,542	V225A	probably benign	Het
Srprb	G	A	9: 103,202,005	P728S	possibly damaging	Het
Tarm1	T	C	7: 3,496,671		probably benign	Het
Tcp1	T	A	17: 12,920,419	I162N	probably benign	Het
Tmem237	C	A	1: 59,107,517	A292S	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tnpo1	A	G	13: 98,846,503	F884L	probably damaging	Het
Trim7	A	G	11: 48,849,501	T142A	probably damaging	Het
Ttn	T	A	2: 76,785,680	I14894F	probably damaging	Het
Tubgcp6	T	C	15: 89,122,436	R128G	possibly damaging	Het
Ube2d2b	A	G	5: 107,830,908	T142A	possibly damaging	Het
Ushbp1	T	C	8: 71,391,053	D247G	probably damaging	Het
Usp43	G	A	11: 67,880,140	A556V	probably damaging	Het
Zfp438	T	A	18: 5,213,638	H440L	probably benign	Het
Zfp518b	C	T	5: 38,672,770	E631K	possibly 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
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
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'- CTGGCAAACATCAAAACACGGTGG -3'
(R):5'- AGCTCAGCACATTTGTAGAGGATGC -3'

Sequencing Primer
(F):5'- TCAGGCACTCTCTTCAATAGAC -3'
(R):5'- TGGCAAAAGTCTGACACATCTG -3'

Posted On

2013-04-16