Mutagenetix > Incidental Mutation

Incidental Mutation 'R6338:Unc13c'

514333

Institutional Source

Beutler Lab

Gene Symbol

Unc13c

Ensembl Gene

ENSMUSG00000062151

Gene Name

unc-13 homolog C

Synonyms

D9Ertd414e, 1500037O19Rik, Munc13-3, Unc13h3

MMRRC Submission

044492-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73386704-73876248 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73641729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1255 (I1255F)

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: I1255F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074726
Gene: ENSMUSG00000062151
AA Change: I1255F

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: I1255F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139027
Gene: ENSMUSG00000062151
AA Change: I1255F

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: 99.7%
10x: 98.1%
20x: 93.8%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	T	C	7: 97,906,922 (GRCm39)	Y128C	probably damaging	Het
Adam30	T	G	3: 98,068,857 (GRCm39)	I102S	probably damaging	Het
Adcy8	A	T	15: 64,792,466 (GRCm39)	D163E	possibly damaging	Het
Agrn	C	T	4: 156,255,042 (GRCm39)	E1614K	probably benign	Het
Aldh16a1	A	T	7: 44,791,385 (GRCm39)	W107R	probably damaging	Het
Arfgef2	A	G	2: 166,687,490 (GRCm39)	D238G	probably damaging	Het
Arhgap11a	T	C	2: 113,664,070 (GRCm39)	S738G	probably benign	Het
Arid5b	C	A	10: 67,934,391 (GRCm39)	G504*	probably null	Het
Carmil3	T	C	14: 55,737,306 (GRCm39)	V763A	possibly damaging	Het
Cd209e	T	A	8: 3,899,154 (GRCm39)	D186V	probably damaging	Het
Cdh23	T	C	10: 60,248,930 (GRCm39)	D882G	probably damaging	Het
Cdh4	T	C	2: 179,532,605 (GRCm39)	V689A	probably damaging	Het
Cntn6	T	A	6: 104,703,100 (GRCm39)	V174E	probably damaging	Het
Col7a1	C	T	9: 108,785,701 (GRCm39)	T390M	unknown	Het
Crybg1	T	C	10: 43,868,505 (GRCm39)	D1017G	probably damaging	Het
Csmd1	T	G	8: 15,982,492 (GRCm39)	K2725T	possibly damaging	Het
Dnaaf2	T	C	12: 69,244,896 (GRCm39)	E55G	probably damaging	Het
Efcab3	C	T	11: 104,734,034 (GRCm39)	R2027*	probably null	Het
Fam13a	A	G	6: 58,930,484 (GRCm39)	V476A	probably damaging	Het
Fem1b	A	T	9: 62,704,293 (GRCm39)	D322E	probably benign	Het
Frmpd1	G	A	4: 45,274,489 (GRCm39)	V466I	probably benign	Het
Gm20671	A	T	5: 32,977,991 (GRCm39)	D1794E	probably damaging	Het
Gpatch2	G	T	1: 186,957,711 (GRCm39)	R22L	probably damaging	Het
Gtf2h1	A	G	7: 46,465,880 (GRCm39)	T450A	probably benign	Het
Kcnc2	G	C	10: 112,107,761 (GRCm39)	G51R	probably benign	Het
Krit1	T	G	5: 3,886,857 (GRCm39)	M702R	probably benign	Het
Krt34	T	C	11: 99,929,316 (GRCm39)	N298S	probably benign	Het
Lrrcc1	T	A	3: 14,612,376 (GRCm39)	N376K	possibly damaging	Het
Myo15a	A	G	11: 60,368,959 (GRCm39)	E573G	probably damaging	Het
Or11j4	T	A	14: 50,630,857 (GRCm39)	F215I	possibly damaging	Het
Or1af1	A	T	2: 37,109,834 (GRCm39)	D111V	probably damaging	Het
Or1e31	A	T	11: 73,690,145 (GRCm39)	L146Q	possibly damaging	Het
Or2y17	A	G	11: 49,231,694 (GRCm39)	S112G	probably benign	Het
Or4c119	T	A	2: 88,986,715 (GRCm39)	K268I	probably damaging	Het
Or56b2	T	A	7: 104,337,378 (GRCm39)	V52E	possibly damaging	Het
Phf20	A	T	2: 156,115,606 (GRCm39)	Q309L	possibly damaging	Het
Plcd1	G	A	9: 118,904,059 (GRCm39)	R292C	probably damaging	Het
Pold3	A	G	7: 99,737,312 (GRCm39)	V342A	possibly damaging	Het
Polr2a	A	T	11: 69,630,505 (GRCm39)		probably null	Het
Ptprcap	A	G	19: 4,206,223 (GRCm39)	E102G	probably benign	Het
Rab11fip5	T	C	6: 85,318,360 (GRCm39)	E843G	possibly damaging	Het
Rai14	T	C	15: 10,575,062 (GRCm39)	D632G	probably damaging	Het
Rnf149	A	T	1: 39,599,823 (GRCm39)	C268S	probably null	Het
Slc6a13	T	A	6: 121,311,798 (GRCm39)	F392I	probably damaging	Het
Slc7a11	C	T	3: 50,338,492 (GRCm39)		probably null	Het
Slf1	T	A	13: 77,232,581 (GRCm39)		probably null	Het
Stard9	G	A	2: 120,527,966 (GRCm39)	V1408I	probably benign	Het
Suclg1	T	C	6: 73,241,229 (GRCm39)	I183T	probably damaging	Het
Syne1	T	C	10: 5,205,475 (GRCm39)	E3497G	probably benign	Het
Tax1bp1	C	T	6: 52,706,361 (GRCm39)	R121*	probably null	Het
Tdpoz2	C	T	3: 93,559,643 (GRCm39)	V110I	probably benign	Het
Ubn2	A	G	6: 38,467,649 (GRCm39)	T788A	probably benign	Het
Usp44	G	T	10: 93,682,375 (GRCm39)	R275I	probably damaging	Het
Uspl1	A	G	5: 149,151,844 (GRCm39)	N1015D	probably benign	Het
Wbp2nl	G	T	15: 82,183,246 (GRCm39)	W13C	possibly damaging	Het
Zc3h14	T	A	12: 98,724,849 (GRCm39)	D170E	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
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
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'- TCCAATGCTGCCCTAAATGTAC -3'
(R):5'- TGCAAACCCAGGGTAAAATGAC -3'

Sequencing Primer
(F):5'- GCTGCCCTAAATGTACTTCTAAAGAG -3'
(R):5'- GACAGAAAACATTCTCTCTGATGG -3'

Posted On

2018-04-27