Mutagenetix > Incidental Mutation

Incidental Mutation 'R5171:Unc13c'

470003

Institutional Source

Beutler Lab

Gene Symbol

Unc13c

Ensembl Gene

ENSMUSG00000062151

Gene Name

unc-13 homolog C

Synonyms

D9Ertd414e, 1500037O19Rik, Munc13-3, Unc13h3

MMRRC Submission

042751-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5171 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73386704-73876248 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73665236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1048 (M1048L)

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: M1048L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074726
Gene: ENSMUSG00000062151
AA Change: M1048L

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: M1048L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139027
Gene: ENSMUSG00000062151
AA Change: M1048L

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

0.0950

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (52/52)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	A	1: 130,670,584 (GRCm39)	Q269K	probably benign	Het
Acad9	T	A	3: 36,128,547 (GRCm39)	I136N	possibly damaging	Het
Adtrp	A	G	13: 41,931,039 (GRCm39)	S183P	probably damaging	Het
Atp11b	C	T	3: 35,887,086 (GRCm39)	T690I	probably damaging	Het
Bcl2l12	G	A	7: 44,640,818 (GRCm39)		probably benign	Het
Btnl7-ps	T	A	17: 34,752,503 (GRCm39)		noncoding transcript	Het
Ccl12	T	C	11: 81,993,460 (GRCm39)	C33R	probably damaging	Het
Cdc25a	T	A	9: 109,706,229 (GRCm39)	S57R	probably benign	Het
Coro2a	T	A	4: 46,542,372 (GRCm39)		probably benign	Het
Cpne6	T	C	14: 55,749,605 (GRCm39)	V55A	possibly damaging	Het
Ddn	A	G	15: 98,704,207 (GRCm39)	S362P	possibly damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Donson	A	G	16: 91,478,181 (GRCm39)	V258A	possibly damaging	Het
Gm3336	G	A	8: 71,174,524 (GRCm39)	V163I	probably benign	Het
Gper1	C	T	5: 139,412,413 (GRCm39)	R253C	probably damaging	Het
Gpsm1	T	A	2: 26,217,476 (GRCm39)		probably benign	Het
Hip1	A	G	5: 135,469,156 (GRCm39)	S251P	probably damaging	Het
Ifi214	A	G	1: 173,354,200 (GRCm39)	S157P	possibly damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kntc1	T	C	5: 123,937,907 (GRCm39)	V1535A	probably benign	Het
Mbd3l1	A	G	9: 18,396,430 (GRCm39)	N185S	probably benign	Het
Mnx1	T	C	5: 29,679,851 (GRCm39)	Q252R	unknown	Het
Mroh3	A	T	1: 136,119,394 (GRCm39)	L463Q	possibly damaging	Het
Myom1	T	C	17: 71,406,967 (GRCm39)	V1030A	possibly damaging	Het
Or3a1d	T	C	11: 74,237,640 (GRCm39)	T257A	probably benign	Het
Or5ak20	T	C	2: 85,184,114 (GRCm39)	D52G	probably benign	Het
Or5w1	T	G	2: 87,486,888 (GRCm39)	I126L	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Ranbp17	A	G	11: 33,167,419 (GRCm39)	Y1015H	probably benign	Het
Rasal1	C	T	5: 120,801,829 (GRCm39)	T256I	probably benign	Het
Rexo5	T	A	7: 119,423,002 (GRCm39)	I278N	probably damaging	Het
Rims2	T	A	15: 39,300,499 (GRCm39)	S77T	probably damaging	Het
Sdk2	C	T	11: 113,741,808 (GRCm39)	A804T	probably benign	Het
Slc24a2	T	A	4: 86,914,871 (GRCm39)	I589F	probably benign	Het
Slc25a38	T	A	9: 119,951,181 (GRCm39)	I217K	probably benign	Het
Slc5a7	T	C	17: 54,583,704 (GRCm39)	T529A	probably benign	Het
Spata22	T	A	11: 73,227,034 (GRCm39)	S83T	probably damaging	Het
Spata31e4	A	T	13: 50,854,414 (GRCm39)	T91S	possibly damaging	Het
Stac2	A	T	11: 97,934,324 (GRCm39)	C127S	possibly damaging	Het
Tep1	T	C	14: 51,062,259 (GRCm39)	H2531R	probably benign	Het
Tmem151a	G	T	19: 5,132,061 (GRCm39)	R382S	probably damaging	Het
Trim60	T	C	8: 65,453,176 (GRCm39)	T358A	probably benign	Het
Usp29	T	C	7: 6,965,074 (GRCm39)	S306P	probably damaging	Het
Zfp26	T	C	9: 20,356,203 (GRCm39)	K35R	probably benign	Het
Zfp462	T	A	4: 55,016,986 (GRCm39)		probably null	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
R5244:Unc13c	UTSW	9	73,433,233 (GRCm39)	critical splice donor site	probably null
R5342:Unc13c	UTSW	9	73,838,105 (GRCm39)	missense	probably benign	0.00
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'- CCACCCCATGCATGTATGTG -3'
(R):5'- TGTCAAAGAAGGTTGCATGC -3'

Sequencing Primer
(F):5'- GTGTATCACTATGTAGCCCAGGC -3'
(R):5'- CAAAGAAGGTTGCATGCCATCTTG -3'

Posted On

2017-03-06