Mutagenetix > Incidental Mutation

Incidental Mutation 'R7053:Unc13c'

547719

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7053 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73479422-73968966 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73932297 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 424 (T424I)

Ref Sequence

ENSEMBL: ENSMUSP00000139027 (fasta)

Gene Model

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

AlphaFold

Q8K0T7

Predicted Effect

probably damaging
Transcript: ENSMUST00000075245
AA Change: T424I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074726
Gene: ENSMUSG00000062151
AA Change: T424I

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 damaging
Transcript: ENSMUST00000184666
AA Change: T424I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139027
Gene: ENSMUSG00000062151
AA Change: T424I

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

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	T	8: 43,568,799	C551*	probably null	Het
Aldh1l1	C	A	6: 90,563,438	T235K	possibly damaging	Het
Atp6v0a2	A	G	5: 124,645,983	E257G	probably damaging	Het
AW146154	A	G	7: 41,482,564		probably null	Het
BC048507	T	C	13: 67,863,653	Y50H	probably benign	Het
Brip1	T	C	11: 86,192,965	N77D	possibly damaging	Het
Ccdc13	T	C	9: 121,833,838	E37G	probably damaging	Het
Col27a1	T	A	4: 63,333,167		probably benign	Het
Corin	T	A	5: 72,301,527	I960L	probably benign	Het
Csnk2b	A	G	17: 35,116,446		probably benign	Het
Cyp2d26	T	C	15: 82,792,600	S182G	probably benign	Het
Dennd1a	A	G	2: 37,961,654	L74P	probably damaging	Het
Dip2c	A	G	13: 9,610,704	D838G	probably damaging	Het
Dkkl1	G	T	7: 45,207,598	Q182K	probably damaging	Het
Dnaic2	T	C	11: 114,738,695	S183P	probably damaging	Het
Dnhd1	T	C	7: 105,694,954	L1835P	probably damaging	Het
Espl1	T	C	15: 102,316,893		probably null	Het
Fam160a2	C	T	7: 105,384,572	G479D	probably damaging	Het
Fam174a	C	T	1: 95,325,228	A185V	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817		probably benign	Het
Grid2	G	T	6: 64,700,418	A74S	unknown	Het
Gsdma3	T	A	11: 98,629,795	M84K	possibly damaging	Het
Hlcs	A	T	16: 94,268,015	S262R	possibly damaging	Het
Lrp1	A	G	10: 127,541,094	C4205R	probably damaging	Het
Mdc1	C	T	17: 35,846,326	A181V	probably benign	Het
Mdga2	T	A	12: 66,689,384	I357F	probably benign	Het
Mfn1	A	G	3: 32,531,965	I21V	probably benign	Het
Mgat4b	C	T	11: 50,233,540	T409M	probably damaging	Het
Mgat4d	G	T	8: 83,371,632	K341N	probably damaging	Het
Mpo	A	T	11: 87,803,510	N109Y	probably damaging	Het
Mvp	T	C	7: 126,987,604	Q785R	possibly damaging	Het
Nim1k	A	G	13: 119,727,609	V88A	probably damaging	Het
Oasl2	A	T	5: 114,911,230	I464L	possibly damaging	Het
Olfr1029	G	T	2: 85,976,014	C257F	possibly damaging	Het
Pkd1l2	A	G	8: 117,013,942	F2139L	probably damaging	Het
Pop1	T	G	15: 34,530,275	S940A	probably benign	Het
Ppp1r9a	T	A	6: 4,905,670	M75K	probably damaging	Het
Prdm15	G	A	16: 97,794,542	Q1029*	probably null	Het
Rffl	T	C	11: 82,812,671	K142R	probably null	Het
Rhou	A	G	8: 123,654,195		probably benign	Het
Rp1l1	A	T	14: 64,031,509	T1515S	possibly damaging	Het
Serpina1b	T	A	12: 103,732,429	S54C	possibly damaging	Het
Slc30a2	G	A	4: 134,347,415	R161Q	probably damaging	Het
Taok3	T	A	5: 117,252,562	D529E	probably benign	Het
Tmem18	T	A	12: 30,584,507	M1K	probably null	Het
Tmem269	T	A	4: 119,209,267	H198L	probably damaging	Het
Tnrc18	A	G	5: 142,787,229	V432A	unknown	Het
Ttc6	A	T	12: 57,660,532	T742S	probably benign	Het
Uhrf2	T	A	19: 30,092,119	C749S	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r61	A	C	7: 42,267,133	D390A	probably damaging	Het
Wisp3	A	G	10: 39,158,301	Y102H	probably damaging	Het
Xpo7	A	G	14: 70,684,858		probably null	Het
Zfp948	T	A	17: 21,584,859	L37*	probably null	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
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
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'- AGCTGCTTTGTTCTTGGACC -3'
(R):5'- ATTTGCTCAGAGGATAGGGCAG -3'

Sequencing Primer
(F):5'- TGTTCTTGGACCGAGCAC -3'
(R):5'- GCAGCAAAGGGACTGCC -3'

Posted On

2019-05-13