Mutagenetix > Incidental Mutation

Incidental Mutation 'R5342:Unc13c'

422395

Institutional Source

Beutler Lab

Gene Symbol

Unc13c

Ensembl Gene

ENSMUSG00000062151

Gene Name

unc-13 homolog C

Synonyms

D9Ertd414e, 1500037O19Rik, Munc13-3, Unc13h3

MMRRC Submission

042921-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5342 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73386704-73876248 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73838105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 915 (D915E)

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: D915E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000074726
Gene: ENSMUSG00000062151
AA Change: D915E

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: D915E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000139027
Gene: ENSMUSG00000062151
AA Change: D915E

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: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrb3	A	C	8: 27,716,809 (GRCm39)	Y392*	probably null	Het
Arap1	G	A	7: 101,054,167 (GRCm39)	E1330K	probably benign	Het
Atg2b	G	T	12: 105,625,175 (GRCm39)	D600E	possibly damaging	Het
Atp1b2	C	T	11: 69,493,654 (GRCm39)	V142I	probably damaging	Het
AW551984	A	T	9: 39,505,847 (GRCm39)	M450K	probably damaging	Het
Bcar3	A	G	3: 122,220,298 (GRCm39)	D65G	probably damaging	Het
Ccnt2	T	C	1: 127,719,470 (GRCm39)		silent	Het
Cdca7l	A	G	12: 117,840,768 (GRCm39)	Y430C	probably damaging	Het
Ces4a	A	G	8: 105,872,775 (GRCm39)	T343A	probably benign	Het
Clec2g	C	T	6: 128,925,714 (GRCm39)	A41V	probably benign	Het
Crybg3	A	T	16: 59,342,512 (GRCm39)	Y2708N	probably damaging	Het
Cspg4b	T	C	13: 113,502,803 (GRCm39)		probably null	Het
Dmxl1	A	T	18: 50,084,302 (GRCm39)	E2758V	probably damaging	Het
Eci2	C	T	13: 35,162,707 (GRCm39)	E283K	probably benign	Het
Edrf1	T	A	7: 133,253,639 (GRCm39)		probably null	Het
Eif3b	T	C	5: 140,411,035 (GRCm39)	L162P	probably damaging	Het
Ercc3	A	G	18: 32,378,648 (GRCm39)	I210V	probably benign	Het
Exoc1	A	G	5: 76,714,861 (GRCm39)	N739S	probably damaging	Het
Gm7334	A	G	17: 51,005,782 (GRCm39)	K23E	probably benign	Het
Gm7356	T	G	17: 14,221,360 (GRCm39)	D223A	possibly damaging	Het
Klhl26	A	G	8: 70,908,215 (GRCm39)	L47P	probably damaging	Het
Klhl42	C	T	6: 146,993,784 (GRCm39)	T252I	possibly damaging	Het
Morc1	G	T	16: 48,438,872 (GRCm39)	G756W	probably damaging	Het
Mroh2b	G	T	15: 4,943,615 (GRCm39)	E384*	probably null	Het
Nol10	G	A	12: 17,419,621 (GRCm39)		probably null	Het
Nxpe5	T	C	5: 138,237,503 (GRCm39)	L9P	probably damaging	Het
Or2r3	A	G	6: 42,448,836 (GRCm39)	I92T	probably damaging	Het
Or52z12	C	T	7: 103,234,035 (GRCm39)	R269C	probably benign	Het
Or7e166	A	G	9: 19,624,333 (GRCm39)	D70G	probably damaging	Het
Pak2	T	C	16: 31,863,306 (GRCm39)	E94G	probably damaging	Het
Pcdha7	A	G	18: 37,107,724 (GRCm39)	K250E	possibly damaging	Het
Pde8b	T	C	13: 95,178,498 (GRCm39)	T541A	probably damaging	Het
Peg3	A	T	7: 6,712,969 (GRCm39)	I751N	probably damaging	Het
Prpsap2	T	C	11: 61,622,396 (GRCm39)	D269G	probably damaging	Het
Raver2	C	A	4: 100,959,889 (GRCm39)	T123K	possibly damaging	Het
Rpgrip1	G	A	14: 52,382,666 (GRCm39)	D600N	possibly damaging	Het
Scn2b	A	G	9: 45,036,816 (GRCm39)	Y108C	probably damaging	Het
Sdr16c6	T	C	4: 4,069,923 (GRCm39)	E139G	probably damaging	Het
Sgpp2	A	G	1: 78,336,825 (GRCm39)	I68V	probably benign	Het
Sorbs2	T	A	8: 46,249,050 (GRCm39)	I687N	probably damaging	Het
Sorcs3	G	A	19: 48,784,911 (GRCm39)		probably null	Het
Stk16	T	A	1: 75,189,609 (GRCm39)	C174S	probably benign	Het
Styxl2	T	C	1: 165,937,819 (GRCm39)	E80G	probably benign	Het
Ttll9	C	A	2: 152,833,572 (GRCm39)	N198K	possibly damaging	Het
Unc5b	T	A	10: 60,614,046 (GRCm39)	K268*	probably null	Het
Vim	T	A	2: 13,584,824 (GRCm39)		probably null	Het
Xirp2	T	A	2: 67,343,805 (GRCm39)	N2015K	probably damaging	Het
Zfp160	T	G	17: 21,240,995 (GRCm39)	M21R	possibly damaging	Het

Other mutations in Unc13c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Unc13c	APN	9	73,643,985 (GRCm39)	missense	probably damaging	0.99
IGL00693:Unc13c	APN	9	73,665,884 (GRCm39)	missense	probably benign	0.18
IGL01022:Unc13c	APN	9	73,424,610 (GRCm39)	missense	probably benign	0.06
IGL01088:Unc13c	APN	9	73,839,563 (GRCm39)	missense	possibly damaging	0.63
IGL01123:Unc13c	APN	9	73,840,479 (GRCm39)	missense	probably benign	0.05
IGL01131:Unc13c	APN	9	73,471,335 (GRCm39)	missense	probably benign
IGL01135:Unc13c	APN	9	73,392,175 (GRCm39)	missense	probably damaging	1.00
IGL01393:Unc13c	APN	9	73,447,552 (GRCm39)	missense	probably benign	0.06
IGL01752:Unc13c	APN	9	73,839,093 (GRCm39)	missense	probably benign	0.01
IGL01893:Unc13c	APN	9	73,600,648 (GRCm39)	missense	probably benign	0.15
IGL01897:Unc13c	APN	9	73,453,309 (GRCm39)	missense	probably damaging	0.99
IGL01936:Unc13c	APN	9	73,600,524 (GRCm39)	missense	probably benign	0.07
IGL02122:Unc13c	APN	9	73,641,679 (GRCm39)	splice site	probably benign
IGL02341:Unc13c	APN	9	73,840,492 (GRCm39)	missense	possibly damaging	0.76
IGL02434:Unc13c	APN	9	73,839,910 (GRCm39)	missense	probably benign	0.01
IGL02545:Unc13c	APN	9	73,388,357 (GRCm39)	missense	probably damaging	0.98
IGL02709:Unc13c	APN	9	73,466,238 (GRCm39)	missense	probably benign	0.00
IGL02815:Unc13c	APN	9	73,447,545 (GRCm39)	missense	possibly damaging	0.83
IGL02904:Unc13c	APN	9	73,388,349 (GRCm39)	nonsense	probably null
IGL03117:Unc13c	APN	9	73,441,307 (GRCm39)	missense	probably benign	0.03
IGL03260:Unc13c	APN	9	73,838,626 (GRCm39)	missense	probably benign	0.11
Feeling	UTSW	9	73,600,553 (GRCm39)	missense	possibly damaging	0.46
Inkling	UTSW	9	73,839,126 (GRCm39)	missense	probably damaging	1.00
notion	UTSW	9	73,643,844 (GRCm39)	missense	probably damaging	1.00
BB001:Unc13c	UTSW	9	73,641,690 (GRCm39)	missense	probably benign	0.05
BB011:Unc13c	UTSW	9	73,641,690 (GRCm39)	missense	probably benign	0.05
PIT4431001:Unc13c	UTSW	9	73,656,829 (GRCm39)	missense	probably damaging	0.99
PIT4651001:Unc13c	UTSW	9	73,391,021 (GRCm39)	missense	possibly damaging	0.48
R0017:Unc13c	UTSW	9	73,600,583 (GRCm39)	missense	probably benign	0.07
R0039:Unc13c	UTSW	9	73,576,847 (GRCm39)	splice site	probably benign
R0164:Unc13c	UTSW	9	73,602,174 (GRCm39)	missense	probably benign	0.01
R0164:Unc13c	UTSW	9	73,602,174 (GRCm39)	missense	probably benign	0.01
R0308:Unc13c	UTSW	9	73,388,400 (GRCm39)	missense	probably benign	0.04
R0344:Unc13c	UTSW	9	73,838,067 (GRCm39)	missense	probably benign	0.39
R0421:Unc13c	UTSW	9	73,840,492 (GRCm39)	missense	possibly damaging	0.76
R0606:Unc13c	UTSW	9	73,438,265 (GRCm39)	splice site	probably benign
R0655:Unc13c	UTSW	9	73,838,235 (GRCm39)	missense	probably damaging	0.96
R1013:Unc13c	UTSW	9	73,840,614 (GRCm39)	missense	probably benign	0.45
R1293:Unc13c	UTSW	9	73,481,356 (GRCm39)	missense	probably benign	0.06
R1493:Unc13c	UTSW	9	73,546,350 (GRCm39)	missense	probably benign	0.27
R1675:Unc13c	UTSW	9	73,546,332 (GRCm39)	critical splice donor site	probably null
R1789:Unc13c	UTSW	9	73,663,621 (GRCm39)	missense	possibly damaging	0.92
R2001:Unc13c	UTSW	9	73,390,897 (GRCm39)	splice site	probably null
R2055:Unc13c	UTSW	9	73,643,832 (GRCm39)	missense	probably damaging	1.00
R2060:Unc13c	UTSW	9	73,572,938 (GRCm39)	missense	probably damaging	0.99
R2420:Unc13c	UTSW	9	73,838,829 (GRCm39)	missense	probably damaging	0.97
R2421:Unc13c	UTSW	9	73,838,829 (GRCm39)	missense	probably damaging	0.97
R2422:Unc13c	UTSW	9	73,838,829 (GRCm39)	missense	probably damaging	0.97
R3415:Unc13c	UTSW	9	73,839,868 (GRCm39)	missense	probably benign	0.00
R3423:Unc13c	UTSW	9	73,837,935 (GRCm39)	missense	possibly damaging	0.46
R3820:Unc13c	UTSW	9	73,838,240 (GRCm39)	missense	probably benign	0.00
R3857:Unc13c	UTSW	9	73,606,390 (GRCm39)	nonsense	probably null
R3859:Unc13c	UTSW	9	73,606,390 (GRCm39)	nonsense	probably null
R3895:Unc13c	UTSW	9	73,840,805 (GRCm39)	missense	probably benign
R4038:Unc13c	UTSW	9	73,441,188 (GRCm39)	critical splice donor site	probably null
R4077:Unc13c	UTSW	9	73,643,821 (GRCm39)	nonsense	probably null
R4125:Unc13c	UTSW	9	73,481,289 (GRCm39)	critical splice donor site	probably null
R4128:Unc13c	UTSW	9	73,641,819 (GRCm39)	missense	probably damaging	1.00
R4235:Unc13c	UTSW	9	73,438,234 (GRCm39)	missense	possibly damaging	0.68
R4295:Unc13c	UTSW	9	73,641,786 (GRCm39)	missense	probably damaging	1.00
R4307:Unc13c	UTSW	9	73,600,649 (GRCm39)	missense	probably benign	0.06
R4658:Unc13c	UTSW	9	73,840,108 (GRCm39)	missense	probably damaging	1.00
R4694:Unc13c	UTSW	9	73,479,636 (GRCm39)	missense	probably benign	0.00
R4735:Unc13c	UTSW	9	73,600,620 (GRCm39)	missense	probably benign	0.00
R4744:Unc13c	UTSW	9	73,839,126 (GRCm39)	missense	probably damaging	1.00
R4795:Unc13c	UTSW	9	73,839,469 (GRCm39)	missense	probably damaging	0.97
R4827:Unc13c	UTSW	9	73,838,568 (GRCm39)	missense	probably damaging	1.00
R4838:Unc13c	UTSW	9	73,839,354 (GRCm39)	missense	possibly damaging	0.68
R4869:Unc13c	UTSW	9	73,587,716 (GRCm39)	missense	probably benign	0.02
R4873:Unc13c	UTSW	9	73,424,566 (GRCm39)	missense	probably damaging	0.98
R4875:Unc13c	UTSW	9	73,424,566 (GRCm39)	missense	probably damaging	0.98
R4876:Unc13c	UTSW	9	73,656,821 (GRCm39)	missense	probably damaging	1.00
R4905:Unc13c	UTSW	9	73,587,674 (GRCm39)	missense	probably benign
R4912:Unc13c	UTSW	9	73,481,304 (GRCm39)	missense	probably damaging	0.99
R5026:Unc13c	UTSW	9	73,838,185 (GRCm39)	missense	possibly damaging	0.74
R5127:Unc13c	UTSW	9	73,840,654 (GRCm39)	missense	probably benign	0.26
R5151:Unc13c	UTSW	9	73,838,757 (GRCm39)	missense	probably benign	0.02
R5171:Unc13c	UTSW	9	73,665,236 (GRCm39)	missense	probably benign
R5244:Unc13c	UTSW	9	73,433,233 (GRCm39)	critical splice donor site	probably null
R5399:Unc13c	UTSW	9	73,656,970 (GRCm39)	missense	possibly damaging	0.95
R5409:Unc13c	UTSW	9	73,485,672 (GRCm39)	missense	possibly damaging	0.78
R5460:Unc13c	UTSW	9	73,453,271 (GRCm39)	missense	probably benign
R5680:Unc13c	UTSW	9	73,839,884 (GRCm39)	missense	probably damaging	1.00
R5681:Unc13c	UTSW	9	73,453,357 (GRCm39)	splice site	probably null
R5728:Unc13c	UTSW	9	73,466,238 (GRCm39)	missense	probably benign	0.01
R5762:Unc13c	UTSW	9	73,719,649 (GRCm39)	missense	probably benign	0.00
R5764:Unc13c	UTSW	9	73,441,185 (GRCm39)	splice site	probably null
R5829:Unc13c	UTSW	9	73,600,650 (GRCm39)	missense	probably benign	0.15
R5894:Unc13c	UTSW	9	73,600,486 (GRCm39)	critical splice donor site	probably null
R5936:Unc13c	UTSW	9	73,485,774 (GRCm39)	missense	probably damaging	1.00
R6043:Unc13c	UTSW	9	73,643,933 (GRCm39)	missense	possibly damaging	0.88
R6046:Unc13c	UTSW	9	73,838,166 (GRCm39)	missense	probably benign
R6148:Unc13c	UTSW	9	73,600,648 (GRCm39)	missense	probably benign	0.15
R6207:Unc13c	UTSW	9	73,665,910 (GRCm39)	missense	possibly damaging	0.89
R6277:Unc13c	UTSW	9	73,606,451 (GRCm39)	missense	probably damaging	1.00
R6338:Unc13c	UTSW	9	73,641,729 (GRCm39)	missense	probably damaging	0.99
R6615:Unc13c	UTSW	9	73,837,890 (GRCm39)	missense	possibly damaging	0.63
R6978:Unc13c	UTSW	9	73,839,259 (GRCm39)	missense	probably benign	0.39
R7053:Unc13c	UTSW	9	73,839,579 (GRCm39)	missense	probably damaging	1.00
R7223:Unc13c	UTSW	9	73,536,473 (GRCm39)	missense	probably benign	0.44
R7259:Unc13c	UTSW	9	73,424,645 (GRCm39)	missense	probably benign	0.00
R7353:Unc13c	UTSW	9	73,481,355 (GRCm39)	missense	probably benign	0.00
R7357:Unc13c	UTSW	9	73,840,811 (GRCm39)	small insertion	probably benign
R7357:Unc13c	UTSW	9	73,840,810 (GRCm39)	small insertion	probably benign
R7607:Unc13c	UTSW	9	73,576,817 (GRCm39)	missense	probably damaging	0.98
R7626:Unc13c	UTSW	9	73,641,799 (GRCm39)	missense	probably damaging	1.00
R7639:Unc13c	UTSW	9	73,840,450 (GRCm39)	missense	probably damaging	0.99
R7657:Unc13c	UTSW	9	73,441,185 (GRCm39)	splice site	probably null
R7665:Unc13c	UTSW	9	73,587,756 (GRCm39)	missense	probably benign	0.28
R7704:Unc13c	UTSW	9	73,606,494 (GRCm39)	missense	probably benign	0.27
R7776:Unc13c	UTSW	9	73,602,232 (GRCm39)	missense	probably damaging	1.00
R7811:Unc13c	UTSW	9	73,600,553 (GRCm39)	missense	possibly damaging	0.46
R7833:Unc13c	UTSW	9	73,388,391 (GRCm39)	missense	possibly damaging	0.53
R7839:Unc13c	UTSW	9	73,840,596 (GRCm39)	missense	possibly damaging	0.63
R7869:Unc13c	UTSW	9	73,602,159 (GRCm39)	missense	probably damaging	1.00
R7924:Unc13c	UTSW	9	73,641,690 (GRCm39)	missense	probably benign	0.05
R8047:Unc13c	UTSW	9	73,719,636 (GRCm39)	nonsense	probably null
R8167:Unc13c	UTSW	9	73,643,985 (GRCm39)	missense	probably damaging	0.99
R8202:Unc13c	UTSW	9	73,643,844 (GRCm39)	missense	probably damaging	1.00
R8210:Unc13c	UTSW	9	73,392,220 (GRCm39)	missense	probably benign	0.13
R8352:Unc13c	UTSW	9	73,838,290 (GRCm39)	missense	probably damaging	0.99
R8368:Unc13c	UTSW	9	73,838,070 (GRCm39)	missense	probably benign	0.15
R8452:Unc13c	UTSW	9	73,838,290 (GRCm39)	missense	probably damaging	0.99
R8535:Unc13c	UTSW	9	73,447,653 (GRCm39)	missense	probably benign
R8677:Unc13c	UTSW	9	73,840,243 (GRCm39)	missense	probably benign	0.00
R8700:Unc13c	UTSW	9	73,479,679 (GRCm39)	missense	probably benign	0.44
R8848:Unc13c	UTSW	9	73,433,263 (GRCm39)	missense	probably benign
R8902:Unc13c	UTSW	9	73,656,830 (GRCm39)	missense	probably damaging	0.97
R8953:Unc13c	UTSW	9	73,840,044 (GRCm39)	missense	probably benign	0.00
R8961:Unc13c	UTSW	9	73,839,524 (GRCm39)	missense	probably benign	0.06
R9015:Unc13c	UTSW	9	73,453,322 (GRCm39)	missense	probably benign
R9114:Unc13c	UTSW	9	73,719,665 (GRCm39)	missense	probably benign	0.02
R9217:Unc13c	UTSW	9	73,485,715 (GRCm39)	missense	probably damaging	1.00
R9252:Unc13c	UTSW	9	73,424,553 (GRCm39)	missense	possibly damaging	0.80
R9273:Unc13c	UTSW	9	73,839,862 (GRCm39)	missense	possibly damaging	0.96
R9317:Unc13c	UTSW	9	73,447,662 (GRCm39)	missense	possibly damaging	0.88
R9412:Unc13c	UTSW	9	73,839,772 (GRCm39)	missense	probably benign
R9505:Unc13c	UTSW	9	73,838,824 (GRCm39)	missense	probably benign	0.22
R9516:Unc13c	UTSW	9	73,392,220 (GRCm39)	missense	probably damaging	0.99
R9528:Unc13c	UTSW	9	73,837,960 (GRCm39)	missense	possibly damaging	0.48
R9567:Unc13c	UTSW	9	73,536,485 (GRCm39)	missense	probably damaging	0.99
R9756:Unc13c	UTSW	9	73,839,526 (GRCm39)	missense	probably benign	0.23
R9783:Unc13c	UTSW	9	73,392,227 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- AAGCTGCTTCTTTGAAGGAAGG -3'
(R):5'- TCAAGTACCACCCTTGACTCTG -3'

Sequencing Primer
(F):5'- CTTTGAAGGAAGGCCTGATTCTC -3'
(R):5'- TTGACTCTGATATCTACACGGAACC -3'

Posted On

2016-08-04