Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01135:Unc13c'

51985

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Unc13c

Ensembl Gene

ENSMUSG00000062151

Gene Name

unc-13 homolog C (C. elegans)

Synonyms

Munc13-3, Unc13h3, 1500037O19Rik, D9Ertd414e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01135

Quality Score

Status

Chromosome

Chromosomal Location

73479422-73968966 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73484893 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2059 (V2059A)

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: V2059A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000074726
Gene: ENSMUSG00000062151
AA Change: V2059A

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: V2059A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139027
Gene: ENSMUSG00000062151
AA Change: V2059A

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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275 (GRCm38)	V124I	probably damaging	Het
5730507C01Rik	G	A	12: 18,533,374 (GRCm38)	R145H	possibly damaging	Het
Acox3	T	A	5: 35,588,752 (GRCm38)	V93E	probably benign	Het
Ankar	T	C	1: 72,665,219 (GRCm38)	N848S	probably benign	Het
Blzf1	A	G	1: 164,303,930 (GRCm38)		probably benign	Het
Cc2d1a	G	T	8: 84,143,404 (GRCm38)	H161N	probably benign	Het
Cfap206	C	T	4: 34,721,562 (GRCm38)	S162N	probably damaging	Het
Ckmt1	A	C	2: 121,361,150 (GRCm38)	D267A	probably damaging	Het
Dtl	G	T	1: 191,548,330 (GRCm38)	T364K	probably damaging	Het
Fam46a	A	G	9: 85,326,599 (GRCm38)	V57A	probably damaging	Het
Fat1	T	A	8: 45,024,840 (GRCm38)	F2308I	probably damaging	Het
Fbxo41	A	T	6: 85,477,908 (GRCm38)	S673T	probably benign	Het
Flnb	G	A	14: 7,909,736 (GRCm38)	V1397I	probably benign	Het
Gdi2	A	G	13: 3,548,855 (GRCm38)		probably benign	Het
Gm5155	A	T	7: 17,902,471 (GRCm38)		noncoding transcript	Het
Grik3	C	T	4: 125,632,415 (GRCm38)	T147I	probably benign	Het
Htr1a	T	C	13: 105,445,284 (GRCm38)	V344A	possibly damaging	Het
Isg20l2	A	T	3: 87,931,761 (GRCm38)	D93V	probably damaging	Het
Kcnt2	T	C	1: 140,354,555 (GRCm38)		probably null	Het
Mfsd4b3	A	G	10: 39,948,072 (GRCm38)	M64T	probably benign	Het
Nox3	T	A	17: 3,696,252 (GRCm38)		probably benign	Het
Olfr693	C	T	7: 106,678,193 (GRCm38)	A98T	probably benign	Het
Pikfyve	T	A	1: 65,251,635 (GRCm38)	N1204K	probably damaging	Het
Pou4f3	C	T	18: 42,395,966 (GRCm38)	Q325*	probably null	Het
Rap1a	T	A	3: 105,732,035 (GRCm38)	T103S	probably benign	Het
Rfc4	G	A	16: 23,115,776 (GRCm38)	R165C	probably damaging	Het
Smtnl1	A	G	2: 84,818,887 (GRCm38)	S8P	probably benign	Het
Syt17	C	T	7: 118,382,047 (GRCm38)	G351S	possibly damaging	Het
Tcf20	T	A	15: 82,853,900 (GRCm38)	M1117L	probably benign	Het
Tgfbr3	A	T	5: 107,215,028 (GRCm38)	H39Q	probably damaging	Het
Trdmt1	T	C	2: 13,521,260 (GRCm38)		probably null	Het
Twf2	A	G	9: 106,212,828 (GRCm38)	I127V	probably benign	Het

Other mutations in Unc13c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Unc13c	APN	9	73,736,703 (GRCm38)	missense	probably damaging	0.99
IGL00693:Unc13c	APN	9	73,758,602 (GRCm38)	missense	probably benign	0.18
IGL01022:Unc13c	APN	9	73,517,328 (GRCm38)	missense	probably benign	0.06
IGL01088:Unc13c	APN	9	73,932,281 (GRCm38)	missense	possibly damaging	0.63
IGL01123:Unc13c	APN	9	73,933,197 (GRCm38)	missense	probably benign	0.05
IGL01131:Unc13c	APN	9	73,564,053 (GRCm38)	missense	probably benign
IGL01393:Unc13c	APN	9	73,540,270 (GRCm38)	missense	probably benign	0.06
IGL01752:Unc13c	APN	9	73,931,811 (GRCm38)	missense	probably benign	0.01
IGL01893:Unc13c	APN	9	73,693,366 (GRCm38)	missense	probably benign	0.15
IGL01897:Unc13c	APN	9	73,546,027 (GRCm38)	missense	probably damaging	0.99
IGL01936:Unc13c	APN	9	73,693,242 (GRCm38)	missense	probably benign	0.07
IGL02122:Unc13c	APN	9	73,734,397 (GRCm38)	splice site	probably benign
IGL02341:Unc13c	APN	9	73,933,210 (GRCm38)	missense	possibly damaging	0.76
IGL02434:Unc13c	APN	9	73,932,628 (GRCm38)	missense	probably benign	0.01
IGL02545:Unc13c	APN	9	73,481,075 (GRCm38)	missense	probably damaging	0.98
IGL02709:Unc13c	APN	9	73,558,956 (GRCm38)	missense	probably benign	0.00
IGL02815:Unc13c	APN	9	73,540,263 (GRCm38)	missense	possibly damaging	0.83
IGL02904:Unc13c	APN	9	73,481,067 (GRCm38)	nonsense	probably null
IGL03117:Unc13c	APN	9	73,534,025 (GRCm38)	missense	probably benign	0.03
IGL03260:Unc13c	APN	9	73,931,344 (GRCm38)	missense	probably benign	0.11
Feeling	UTSW	9	73,693,271 (GRCm38)	missense	possibly damaging	0.46
Inkling	UTSW	9	73,931,844 (GRCm38)	missense	probably damaging	1.00
notion	UTSW	9	73,736,562 (GRCm38)	missense	probably damaging	1.00
BB001:Unc13c	UTSW	9	73,734,408 (GRCm38)	missense	probably benign	0.05
BB011:Unc13c	UTSW	9	73,734,408 (GRCm38)	missense	probably benign	0.05
PIT4431001:Unc13c	UTSW	9	73,749,547 (GRCm38)	missense	probably damaging	0.99
PIT4651001:Unc13c	UTSW	9	73,483,739 (GRCm38)	missense	possibly damaging	0.48
R0017:Unc13c	UTSW	9	73,693,301 (GRCm38)	missense	probably benign	0.07
R0039:Unc13c	UTSW	9	73,669,565 (GRCm38)	splice site	probably benign
R0164:Unc13c	UTSW	9	73,694,892 (GRCm38)	missense	probably benign	0.01
R0164:Unc13c	UTSW	9	73,694,892 (GRCm38)	missense	probably benign	0.01
R0308:Unc13c	UTSW	9	73,481,118 (GRCm38)	missense	probably benign	0.04
R0344:Unc13c	UTSW	9	73,930,785 (GRCm38)	missense	probably benign	0.39
R0421:Unc13c	UTSW	9	73,933,210 (GRCm38)	missense	possibly damaging	0.76
R0606:Unc13c	UTSW	9	73,530,983 (GRCm38)	splice site	probably benign
R0655:Unc13c	UTSW	9	73,930,953 (GRCm38)	missense	probably damaging	0.96
R1013:Unc13c	UTSW	9	73,933,332 (GRCm38)	missense	probably benign	0.45
R1293:Unc13c	UTSW	9	73,574,074 (GRCm38)	missense	probably benign	0.06
R1493:Unc13c	UTSW	9	73,639,068 (GRCm38)	missense	probably benign	0.27
R1675:Unc13c	UTSW	9	73,639,050 (GRCm38)	critical splice donor site	probably null
R1789:Unc13c	UTSW	9	73,756,339 (GRCm38)	missense	possibly damaging	0.92
R2001:Unc13c	UTSW	9	73,483,615 (GRCm38)	splice site	probably null
R2055:Unc13c	UTSW	9	73,736,550 (GRCm38)	missense	probably damaging	1.00
R2060:Unc13c	UTSW	9	73,665,656 (GRCm38)	missense	probably damaging	0.99
R2420:Unc13c	UTSW	9	73,931,547 (GRCm38)	missense	probably damaging	0.97
R2421:Unc13c	UTSW	9	73,931,547 (GRCm38)	missense	probably damaging	0.97
R2422:Unc13c	UTSW	9	73,931,547 (GRCm38)	missense	probably damaging	0.97
R3415:Unc13c	UTSW	9	73,932,586 (GRCm38)	missense	probably benign	0.00
R3423:Unc13c	UTSW	9	73,930,653 (GRCm38)	missense	possibly damaging	0.46
R3820:Unc13c	UTSW	9	73,930,958 (GRCm38)	missense	probably benign	0.00
R3857:Unc13c	UTSW	9	73,699,108 (GRCm38)	nonsense	probably null
R3859:Unc13c	UTSW	9	73,699,108 (GRCm38)	nonsense	probably null
R3895:Unc13c	UTSW	9	73,933,523 (GRCm38)	missense	probably benign
R4038:Unc13c	UTSW	9	73,533,906 (GRCm38)	critical splice donor site	probably null
R4077:Unc13c	UTSW	9	73,736,539 (GRCm38)	nonsense	probably null
R4125:Unc13c	UTSW	9	73,574,007 (GRCm38)	critical splice donor site	probably null
R4128:Unc13c	UTSW	9	73,734,537 (GRCm38)	missense	probably damaging	1.00
R4235:Unc13c	UTSW	9	73,530,952 (GRCm38)	missense	possibly damaging	0.68
R4295:Unc13c	UTSW	9	73,734,504 (GRCm38)	missense	probably damaging	1.00
R4307:Unc13c	UTSW	9	73,693,367 (GRCm38)	missense	probably benign	0.06
R4658:Unc13c	UTSW	9	73,932,826 (GRCm38)	missense	probably damaging	1.00
R4694:Unc13c	UTSW	9	73,572,354 (GRCm38)	missense	probably benign	0.00
R4735:Unc13c	UTSW	9	73,693,338 (GRCm38)	missense	probably benign	0.00
R4744:Unc13c	UTSW	9	73,931,844 (GRCm38)	missense	probably damaging	1.00
R4795:Unc13c	UTSW	9	73,932,187 (GRCm38)	missense	probably damaging	0.97
R4827:Unc13c	UTSW	9	73,931,286 (GRCm38)	missense	probably damaging	1.00
R4838:Unc13c	UTSW	9	73,932,072 (GRCm38)	missense	possibly damaging	0.68
R4869:Unc13c	UTSW	9	73,680,434 (GRCm38)	missense	probably benign	0.02
R4873:Unc13c	UTSW	9	73,517,284 (GRCm38)	missense	probably damaging	0.98
R4875:Unc13c	UTSW	9	73,517,284 (GRCm38)	missense	probably damaging	0.98
R4876:Unc13c	UTSW	9	73,749,539 (GRCm38)	missense	probably damaging	1.00
R4905:Unc13c	UTSW	9	73,680,392 (GRCm38)	missense	probably benign
R4912:Unc13c	UTSW	9	73,574,022 (GRCm38)	missense	probably damaging	0.99
R5026:Unc13c	UTSW	9	73,930,903 (GRCm38)	missense	possibly damaging	0.74
R5127:Unc13c	UTSW	9	73,933,372 (GRCm38)	missense	probably benign	0.26
R5151:Unc13c	UTSW	9	73,931,475 (GRCm38)	missense	probably benign	0.02
R5171:Unc13c	UTSW	9	73,757,954 (GRCm38)	missense	probably benign
R5244:Unc13c	UTSW	9	73,525,951 (GRCm38)	critical splice donor site	probably null
R5342:Unc13c	UTSW	9	73,930,823 (GRCm38)	missense	probably benign	0.00
R5399:Unc13c	UTSW	9	73,749,688 (GRCm38)	missense	possibly damaging	0.95
R5409:Unc13c	UTSW	9	73,578,390 (GRCm38)	missense	possibly damaging	0.78
R5460:Unc13c	UTSW	9	73,545,989 (GRCm38)	missense	probably benign
R5680:Unc13c	UTSW	9	73,932,602 (GRCm38)	missense	probably damaging	1.00
R5681:Unc13c	UTSW	9	73,546,075 (GRCm38)	splice site	probably null
R5728:Unc13c	UTSW	9	73,558,956 (GRCm38)	missense	probably benign	0.01
R5762:Unc13c	UTSW	9	73,812,367 (GRCm38)	missense	probably benign	0.00
R5764:Unc13c	UTSW	9	73,533,903 (GRCm38)	splice site	probably null
R5829:Unc13c	UTSW	9	73,693,368 (GRCm38)	missense	probably benign	0.15
R5894:Unc13c	UTSW	9	73,693,204 (GRCm38)	critical splice donor site	probably null
R5936:Unc13c	UTSW	9	73,578,492 (GRCm38)	missense	probably damaging	1.00
R6043:Unc13c	UTSW	9	73,736,651 (GRCm38)	missense	possibly damaging	0.88
R6046:Unc13c	UTSW	9	73,930,884 (GRCm38)	missense	probably benign
R6148:Unc13c	UTSW	9	73,693,366 (GRCm38)	missense	probably benign	0.15
R6207:Unc13c	UTSW	9	73,758,628 (GRCm38)	missense	possibly damaging	0.89
R6277:Unc13c	UTSW	9	73,699,169 (GRCm38)	missense	probably damaging	1.00
R6338:Unc13c	UTSW	9	73,734,447 (GRCm38)	missense	probably damaging	0.99
R6615:Unc13c	UTSW	9	73,930,608 (GRCm38)	missense	possibly damaging	0.63
R6978:Unc13c	UTSW	9	73,931,977 (GRCm38)	missense	probably benign	0.39
R7053:Unc13c	UTSW	9	73,932,297 (GRCm38)	missense	probably damaging	1.00
R7223:Unc13c	UTSW	9	73,629,191 (GRCm38)	missense	probably benign	0.44
R7259:Unc13c	UTSW	9	73,517,363 (GRCm38)	missense	probably benign	0.00
R7353:Unc13c	UTSW	9	73,574,073 (GRCm38)	missense	probably benign	0.00
R7357:Unc13c	UTSW	9	73,933,529 (GRCm38)	small insertion	probably benign
R7357:Unc13c	UTSW	9	73,933,528 (GRCm38)	small insertion	probably benign
R7607:Unc13c	UTSW	9	73,669,535 (GRCm38)	missense	probably damaging	0.98
R7626:Unc13c	UTSW	9	73,734,517 (GRCm38)	missense	probably damaging	1.00
R7639:Unc13c	UTSW	9	73,933,168 (GRCm38)	missense	probably damaging	0.99
R7657:Unc13c	UTSW	9	73,533,903 (GRCm38)	splice site	probably null
R7665:Unc13c	UTSW	9	73,680,474 (GRCm38)	missense	probably benign	0.28
R7704:Unc13c	UTSW	9	73,699,212 (GRCm38)	missense	probably benign	0.27
R7776:Unc13c	UTSW	9	73,694,950 (GRCm38)	missense	probably damaging	1.00
R7811:Unc13c	UTSW	9	73,693,271 (GRCm38)	missense	possibly damaging	0.46
R7833:Unc13c	UTSW	9	73,481,109 (GRCm38)	missense	possibly damaging	0.53
R7839:Unc13c	UTSW	9	73,933,314 (GRCm38)	missense	possibly damaging	0.63
R7869:Unc13c	UTSW	9	73,694,877 (GRCm38)	missense	probably damaging	1.00
R7924:Unc13c	UTSW	9	73,734,408 (GRCm38)	missense	probably benign	0.05
R8047:Unc13c	UTSW	9	73,812,354 (GRCm38)	nonsense	probably null
R8167:Unc13c	UTSW	9	73,736,703 (GRCm38)	missense	probably damaging	0.99
R8202:Unc13c	UTSW	9	73,736,562 (GRCm38)	missense	probably damaging	1.00
R8210:Unc13c	UTSW	9	73,484,938 (GRCm38)	missense	probably benign	0.13
R8352:Unc13c	UTSW	9	73,931,008 (GRCm38)	missense	probably damaging	0.99
R8368:Unc13c	UTSW	9	73,930,788 (GRCm38)	missense	probably benign	0.15
R8452:Unc13c	UTSW	9	73,931,008 (GRCm38)	missense	probably damaging	0.99
R8535:Unc13c	UTSW	9	73,540,371 (GRCm38)	missense	probably benign
R8677:Unc13c	UTSW	9	73,932,961 (GRCm38)	missense	probably benign	0.00
R8700:Unc13c	UTSW	9	73,572,397 (GRCm38)	missense	probably benign	0.44
R8848:Unc13c	UTSW	9	73,525,981 (GRCm38)	missense	probably benign
R8902:Unc13c	UTSW	9	73,749,548 (GRCm38)	missense	probably damaging	0.97
R8953:Unc13c	UTSW	9	73,932,762 (GRCm38)	missense	probably benign	0.00
R8961:Unc13c	UTSW	9	73,932,242 (GRCm38)	missense	probably benign	0.06
R9015:Unc13c	UTSW	9	73,546,040 (GRCm38)	missense	probably benign
R9114:Unc13c	UTSW	9	73,812,383 (GRCm38)	missense	probably benign	0.02
R9217:Unc13c	UTSW	9	73,578,433 (GRCm38)	missense	probably damaging	1.00
R9252:Unc13c	UTSW	9	73,517,271 (GRCm38)	missense	possibly damaging	0.80
R9273:Unc13c	UTSW	9	73,932,580 (GRCm38)	missense	possibly damaging	0.96
R9317:Unc13c	UTSW	9	73,540,380 (GRCm38)	missense	possibly damaging	0.88
R9412:Unc13c	UTSW	9	73,932,490 (GRCm38)	missense	probably benign
R9505:Unc13c	UTSW	9	73,931,542 (GRCm38)	missense	probably benign	0.22
R9516:Unc13c	UTSW	9	73,484,938 (GRCm38)	missense	probably damaging	0.99
R9528:Unc13c	UTSW	9	73,930,678 (GRCm38)	missense	possibly damaging	0.48
R9567:Unc13c	UTSW	9	73,629,203 (GRCm38)	missense	probably damaging	0.99
R9756:Unc13c	UTSW	9	73,932,244 (GRCm38)	missense	probably benign	0.23
R9783:Unc13c	UTSW	9	73,484,945 (GRCm38)	missense	probably benign	0.09

Posted On

2013-06-21