Mutagenetix > Incidental Mutation

Incidental Mutation 'R6034:Tc2n'

486459

Institutional Source

Beutler Lab

Gene Symbol

Tc2n

Ensembl Gene

ENSMUSG00000021187

Gene Name

tandem C2 domains, nuclear

Synonyms

4933406D09Rik, Mtac2d1, Tac2-N

MMRRC Submission

044206-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R6034 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101611702-101684782 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 101617460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110047] [ENSMUST00000160715] [ENSMUST00000160715] [ENSMUST00000160830] [ENSMUST00000162735]

AlphaFold

Q91XT6

Predicted Effect

probably benign
Transcript: ENSMUST00000110047

SMART Domains

Protein: ENSMUSP00000105674
Gene: ENSMUSG00000021187

Domain	Start	End	E-Value	Type
low complexity region	162	173	N/A	INTRINSIC
low complexity region	190	210	N/A	INTRINSIC
C2	238	339	5.56e0	SMART
C2	366	472	1.02e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000160715

SMART Domains

Protein: ENSMUSP00000125099
Gene: ENSMUSG00000021187

Domain	Start	End	E-Value	Type
low complexity region	162	173	N/A	INTRINSIC
low complexity region	190	210	N/A	INTRINSIC
Blast:C2	238	287	1e-24	BLAST
C2	302	408	1.02e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000160715

SMART Domains

Protein: ENSMUSP00000125099
Gene: ENSMUSG00000021187

Domain	Start	End	E-Value	Type
low complexity region	162	173	N/A	INTRINSIC
low complexity region	190	210	N/A	INTRINSIC
Blast:C2	238	287	1e-24	BLAST
C2	302	408	1.02e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000160830

SMART Domains

Protein: ENSMUSP00000124287
Gene: ENSMUSG00000021187

Domain	Start	End	E-Value	Type
low complexity region	162	173	N/A	INTRINSIC
low complexity region	190	210	N/A	INTRINSIC
C2	238	339	5.56e0	SMART
C2	366	472	1.02e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000162735

SMART Domains

Protein: ENSMUSP00000125288
Gene: ENSMUSG00000021187

Domain	Start	End	E-Value	Type
low complexity region	162	173	N/A	INTRINSIC
low complexity region	190	210	N/A	INTRINSIC
C2	238	339	5.56e0	SMART
C2	366	472	1.02e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162999

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef4	G	T	1: 34,760,984 (GRCm39)	G80V	unknown	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Atad2	A	T	15: 57,971,959 (GRCm39)	L306Q	probably damaging	Het
Atp2b4	T	A	1: 133,659,645 (GRCm39)		probably null	Het
Atp6v1c2	C	A	12: 17,357,501 (GRCm39)	G95V	possibly damaging	Het
Birc6	T	A	17: 74,922,278 (GRCm39)	V2192E	probably damaging	Het
Catsperb	A	G	12: 101,542,091 (GRCm39)	E597G	probably benign	Het
Ccdc40	A	G	11: 119,133,898 (GRCm39)	M556V	possibly damaging	Het
Ccin	G	A	4: 43,985,354 (GRCm39)	R587K	probably benign	Het
Cdipt	T	G	7: 126,577,497 (GRCm39)	V81G	probably damaging	Het
Cert1	A	C	13: 96,746,308 (GRCm39)	I236L	probably benign	Het
Cfh	T	C	1: 140,090,869 (GRCm39)	K40E	probably damaging	Het
Cps1	T	A	1: 67,196,872 (GRCm39)		probably null	Het
Dnah7c	A	T	1: 46,496,418 (GRCm39)	D101V	probably benign	Het
Fastkd3	T	A	13: 68,731,729 (GRCm39)	W17R	probably damaging	Het
Gapdh	T	C	6: 125,142,261 (GRCm39)	D25G	probably benign	Het
H1f4	A	G	13: 23,806,296 (GRCm39)	L62P	probably damaging	Het
H2-Ob	T	C	17: 34,460,192 (GRCm39)	V30A	probably damaging	Het
Hmgxb3	T	A	18: 61,265,594 (GRCm39)	H1128L	probably damaging	Het
Hspbp1	A	T	7: 4,680,711 (GRCm39)	I255N	probably damaging	Het
Imp4	A	G	1: 34,482,537 (GRCm39)	D91G	probably damaging	Het
Itprid1	T	A	6: 55,944,666 (GRCm39)	D462E	possibly damaging	Het
Kcnip4	G	T	5: 48,548,283 (GRCm39)	R241S	possibly damaging	Het
Lilra5	T	C	7: 4,245,133 (GRCm39)	L259P	probably benign	Het
Lipf	T	C	19: 33,942,289 (GRCm39)	I73T	probably benign	Het
Lsm7	T	C	10: 80,688,742 (GRCm39)		probably null	Het
Luzp2	T	A	7: 54,816,972 (GRCm39)	L141M	probably damaging	Het
Malrd1	T	A	2: 15,850,137 (GRCm39)	V1252E	possibly damaging	Het
Map10	T	C	8: 126,399,205 (GRCm39)	L866P	probably damaging	Het
Mink1	AAGCAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAGCAG	11: 70,497,866 (GRCm39)		probably benign	Het
Mpp2	T	C	11: 101,952,460 (GRCm39)	I355V	possibly damaging	Het
Mtrf1l	T	A	10: 5,773,834 (GRCm39)		probably benign	Het
Myo5c	A	T	9: 75,163,187 (GRCm39)	T339S	probably benign	Het
Naa15	A	G	3: 51,350,242 (GRCm39)	D163G	probably damaging	Het
Oosp2	A	G	19: 11,628,879 (GRCm39)	F74S	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or4f7	T	A	2: 111,644,702 (GRCm39)	Y123F	probably damaging	Het
Pard3	C	G	8: 127,791,077 (GRCm39)		probably benign	Het
Pcdha1	T	A	18: 37,063,651 (GRCm39)	I105N	probably damaging	Het
Pcdhgb8	A	G	18: 37,895,601 (GRCm39)	T224A	possibly damaging	Het
Phf12	A	G	11: 77,908,895 (GRCm39)	N325S	probably benign	Het
Prom1	T	A	5: 44,201,750 (GRCm39)		probably null	Het
Raet1e	A	G	10: 22,057,990 (GRCm39)	*252W	probably null	Het
Sap130	T	C	18: 31,822,459 (GRCm39)	V655A	possibly damaging	Het
Sec16b	A	T	1: 157,380,509 (GRCm39)	K360I	probably damaging	Het
Sec23ip	C	T	7: 128,351,927 (GRCm39)	T101I	possibly damaging	Het
Selenoo	A	G	15: 88,983,546 (GRCm39)	K529R	probably benign	Het
Slc22a15	A	G	3: 101,770,235 (GRCm39)	F451L	possibly damaging	Het
St6gal2	T	A	17: 55,789,982 (GRCm39)	S339T	probably benign	Het
Stard13	A	T	5: 151,018,965 (GRCm39)		probably null	Het
Synm	A	G	7: 67,384,653 (GRCm39)	V561A	probably damaging	Het
Ugt2b36	T	A	5: 87,229,377 (GRCm39)	D236V	probably damaging	Het
Vmn1r65	A	G	7: 6,011,868 (GRCm39)	L122P	probably damaging	Het
Zc3h14	T	C	12: 98,737,632 (GRCm39)	S40P	probably benign	Het
Zc3hav1l	C	A	6: 38,272,215 (GRCm39)	G185C	probably damaging	Het
Zfp563	G	A	17: 33,323,935 (GRCm39)	A177T	probably damaging	Het

Other mutations in Tc2n

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01656:Tc2n	APN	12	101,615,348 (GRCm39)	utr 3 prime	probably benign
IGL02129:Tc2n	APN	12	101,656,048 (GRCm39)	missense	probably damaging	0.99
IGL02630:Tc2n	APN	12	101,659,404 (GRCm39)	missense	probably damaging	0.99
upbraided	UTSW	12	101,617,460 (GRCm39)	splice site	probably null
R0517:Tc2n	UTSW	12	101,615,454 (GRCm39)	missense	probably damaging	0.98
R0980:Tc2n	UTSW	12	101,644,835 (GRCm39)	nonsense	probably null
R1676:Tc2n	UTSW	12	101,655,251 (GRCm39)	missense	probably damaging	1.00
R2187:Tc2n	UTSW	12	101,672,803 (GRCm39)	missense	probably damaging	1.00
R3771:Tc2n	UTSW	12	101,660,833 (GRCm39)	missense	possibly damaging	0.68
R4082:Tc2n	UTSW	12	101,617,414 (GRCm39)	missense	possibly damaging	0.85
R4180:Tc2n	UTSW	12	101,631,954 (GRCm39)	missense	probably damaging	1.00
R4707:Tc2n	UTSW	12	101,660,832 (GRCm39)	missense	probably benign	0.16
R4793:Tc2n	UTSW	12	101,617,376 (GRCm39)	missense	possibly damaging	0.86
R4917:Tc2n	UTSW	12	101,631,954 (GRCm39)	missense	probably damaging	1.00
R5214:Tc2n	UTSW	12	101,659,461 (GRCm39)	nonsense	probably null
R5870:Tc2n	UTSW	12	101,619,111 (GRCm39)	missense	probably damaging	1.00
R6034:Tc2n	UTSW	12	101,617,460 (GRCm39)	splice site	probably null
R6128:Tc2n	UTSW	12	101,675,748 (GRCm39)	start codon destroyed	probably null	0.99
R7200:Tc2n	UTSW	12	101,655,314 (GRCm39)	missense	probably damaging	1.00
R7469:Tc2n	UTSW	12	101,631,934 (GRCm39)	missense	probably damaging	1.00
R7471:Tc2n	UTSW	12	101,672,716 (GRCm39)	missense	probably damaging	0.99
R7730:Tc2n	UTSW	12	101,617,406 (GRCm39)	missense	probably damaging	0.99
R7836:Tc2n	UTSW	12	101,619,112 (GRCm39)	missense	possibly damaging	0.51
R8432:Tc2n	UTSW	12	101,615,363 (GRCm39)	missense	probably benign	0.00
R8435:Tc2n	UTSW	12	101,615,376 (GRCm39)	nonsense	probably null
R8530:Tc2n	UTSW	12	101,617,444 (GRCm39)	missense	possibly damaging	0.52
R8669:Tc2n	UTSW	12	101,660,851 (GRCm39)	missense	probably damaging	1.00
R9684:Tc2n	UTSW	12	101,660,818 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TCTTACAGAGCTCCGACTATAAAG -3'
(R):5'- ATCCAGAGAGTTGACACTTTTCTTG -3'

Sequencing Primer
(F):5'- GGCCTTCAATAAGCGTGT -3'
(R):5'- GAGAGTTGACACTTTTCTTGTTCTAC -3'

Posted On

2017-08-16