Mutagenetix > Incidental Mutations

Incidental Mutation 'R7626:Unc13c'

589455

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7626 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73479422-73968966 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73734517 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 1231 (K1231N)

Ref Sequence

ENSEMBL: ENSMUSP00000074726 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000075245
AA Change: K1231N

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

SMART Domains

Protein: ENSMUSP00000074726
Gene: ENSMUSG00000062151
AA Change: K1231N

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: K1231N

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

SMART Domains

Protein: ENSMUSP00000139027
Gene: ENSMUSG00000062151
AA Change: K1231N

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: 99.9%
10x: 99.6%
20x: 98.8%

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
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Alox5	T	C	6: 116,413,795	D465G	possibly damaging	Het
Arhgef16	T	A	4: 154,282,882	K355N	possibly damaging	Het
C87499	A	T	4: 88,630,042	I42N	probably damaging	Het
Camkk2	T	A	5: 122,764,300		probably benign	Het
Ccdc171	C	T	4: 83,580,775	Q237*	probably null	Het
Ces2b	T	C	8: 104,837,385	Y464H	possibly damaging	Het
Cntfr	A	G	4: 41,662,013	F243S	possibly damaging	Het
Crip3	A	T	17: 46,429,865	R65S	probably benign	Het
Dcn	A	G	10: 97,483,478	Y39C	possibly damaging	Het
Degs2	T	C	12: 108,692,073	S216G	possibly damaging	Het
Dmxl1	A	G	18: 49,902,794	I2295V	probably benign	Het
Dnah2	A	G	11: 69,498,685	S794P	probably damaging	Het
Eri1	A	C	8: 35,474,400	Y264*	probably null	Het
Etl4	T	C	2: 20,713,378	L179P	probably damaging	Het
F5	T	G	1: 164,186,912	M584R	possibly damaging	Het
Fam98c	G	T	7: 29,152,823	R104S	probably damaging	Het
Flad1	A	T	3: 89,403,411	I443N	probably benign	Het
Hbp1	T	C	12: 31,943,900	E43G	probably benign	Het
Hivep3	CGG	CG	4: 120,097,911		probably null	Het
Kcnj3	T	A	2: 55,594,821	C310*	probably null	Het
Lct	T	C	1: 128,285,195	Y1907C	probably damaging	Het
Loxhd1	T	C	18: 77,431,186	V1896A	possibly damaging	Het
Lrfn4	C	A	19: 4,613,651	R285L	probably damaging	Het
Ltb4r2	T	A	14: 55,762,881	S320T	probably damaging	Het
Mmd	G	T	11: 90,257,552	R20L	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Nbas	T	C	12: 13,558,660	S2146P	probably benign	Het
Nop14	A	G	5: 34,651,791	F319L	probably damaging	Het
Numa1	C	A	7: 101,999,423	T787K	probably benign	Het
Olfr1495	T	G	19: 13,768,345	M1R	probably null	Het
Olfr325	A	C	11: 58,581,173	T110P	probably damaging	Het
Olfr784	T	G	10: 129,387,857	C75G	possibly damaging	Het
Patj	T	C	4: 98,546,987	V2A	probably benign	Het
Pisd	T	C	5: 32,740,688	H52R	probably benign	Het
Plekhg6	A	T	6: 125,363,668	D576E	probably benign	Het
Plekhn1	T	A	4: 156,225,653	H68L	probably benign	Het
Ppp1r37	T	A	7: 19,561,853	I60F	probably damaging	Het
Ppp2r1b	C	T	9: 50,878,176	T513M	possibly damaging	Het
Rhobtb2	C	A	14: 69,796,937	A280S	probably damaging	Het
Rnf40	A	G	7: 127,589,875	D140G	probably benign	Het
Rxfp1	A	G	3: 79,648,090	L653P	probably damaging	Het
Satb1	A	T	17: 51,767,967	D500E	probably benign	Het
Slc15a1	A	T	14: 121,475,965	D383E	probably benign	Het
Smarcad1	C	A	6: 65,096,049	S604R	possibly damaging	Het
St7	A	G	6: 17,934,217	T533A	probably damaging	Het
Sv2c	T	A	13: 95,985,943	T442S	probably benign	Het
Tbx2	A	G	11: 85,840,796	T640A	probably benign	Het
Tenm4	T	A	7: 96,893,014	N1948K	probably damaging	Het
Tonsl	A	T	15: 76,633,936	L582Q	probably null	Het
Vmn2r101	T	A	17: 19,611,930	Y729*	probably null	Het
Zcchc2	A	G	1: 106,001,012	T334A	possibly damaging	Het
Zfp655	T	C	5: 145,237,107	L136P	probably damaging	Het
Zfp729a	A	T	13: 67,620,318	C597*	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
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
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
R7916:Unc13c	UTSW	9	73481109	missense	possibly damaging	0.53
R7922:Unc13c	UTSW	9	73933314	missense	possibly damaging	0.63
R7952:Unc13c	UTSW	9	73694877	missense	probably damaging	1.00
R8047:Unc13c	UTSW	9	73812354	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTCTTCAGCATTCACGAGCC -3'
(R):5'- GTTACAGTCATTGTGCATACTCTG -3'

Sequencing Primer
(F):5'- AGCATTCACGAGCCTGTCTTC -3'
(R):5'- AGTCATTGTGCATACTCTGTTCTAG -3'

Posted On

2019-10-24