Mutagenetix > Incidental Mutation

Incidental Mutation 'R7200:Tc2n'

560249

Institutional Source

Beutler Lab

Gene Symbol

Tc2n

Ensembl Gene

ENSMUSG00000021187

Gene Name

tandem C2 domains, nuclear

Synonyms

4933406D09Rik, Mtac2d1, Tac2-N

MMRRC Submission

045278-MU

Accession Numbers

Essential gene?

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

Stock #

R7200 (G1)

Quality Score

165.009

Status

Not validated

Chromosome

Chromosomal Location

101611702-101684782 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 101655314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 214 (I214L)

Ref Sequence

ENSEMBL: ENSMUSP00000125288 (fasta)

Gene Model

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

AlphaFold

Q91XT6

Predicted Effect

probably damaging
Transcript: ENSMUST00000110047
AA Change: I214L

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

SMART Domains

Protein: ENSMUSP00000105674
Gene: ENSMUSG00000021187
AA Change: I214L

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 damaging
Transcript: ENSMUST00000160715
AA Change: I214L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125099
Gene: ENSMUSG00000021187
AA Change: I214L

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 damaging
Transcript: ENSMUST00000160830
AA Change: I214L

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

SMART Domains

Protein: ENSMUSP00000124287
Gene: ENSMUSG00000021187
AA Change: I214L

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 damaging
Transcript: ENSMUST00000162735
AA Change: I214L

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

SMART Domains

Protein: ENSMUSP00000125288
Gene: ENSMUSG00000021187
AA Change: I214L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	A	G	11: 65,043,836 (GRCm39)	M75T	unknown	Het
2700049A03Rik	T	G	12: 71,187,680 (GRCm39)	N105K	probably damaging	Het
Acvr1c	A	T	2: 58,205,867 (GRCm39)	V31E	probably damaging	Het
Adra1d	T	A	2: 131,403,170 (GRCm39)	T307S	probably benign	Het
Akr1c14	T	C	13: 4,131,051 (GRCm39)	Y248H	probably benign	Het
Ankub1	T	C	3: 57,580,406 (GRCm39)	T84A	probably benign	Het
Asb3	C	A	11: 30,948,348 (GRCm39)	S8*	probably null	Het
AU041133	G	A	10: 81,986,935 (GRCm39)	G196D	possibly damaging	Het
B4galt7	T	C	13: 55,756,155 (GRCm39)	C214R	probably damaging	Het
Chd3	A	G	11: 69,254,921 (GRCm39)	S140P	possibly damaging	Het
Ciz1	T	C	2: 32,254,299 (GRCm39)	L80P	probably damaging	Het
Col6a4	G	A	9: 105,949,448 (GRCm39)	P729L	possibly damaging	Het
Cr2	A	G	1: 194,845,557 (GRCm39)	C133R	probably damaging	Het
Dmgdh	T	C	13: 93,828,393 (GRCm39)	L178P	probably damaging	Het
Dock5	C	A	14: 68,009,151 (GRCm39)	E1448*	probably null	Het
Elavl1	A	G	8: 4,361,767 (GRCm39)	S2P	probably benign	Het
Flywch1	T	C	17: 23,980,033 (GRCm39)	H247R	possibly damaging	Het
Gabpb1	A	T	2: 126,481,222 (GRCm39)	I309N	possibly damaging	Het
Glrx3	T	C	7: 137,066,165 (GRCm39)	F298L	possibly damaging	Het
Gpc6	G	A	14: 118,202,268 (GRCm39)	V493I	probably benign	Het
H2-T13	A	T	17: 36,391,938 (GRCm39)	I45N	possibly damaging	Het
Hadha	C	T	5: 30,350,315 (GRCm39)	E78K	probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Ldlrad3	G	T	2: 101,943,903 (GRCm39)	F56L	probably damaging	Het
Ldlrad3	A	G	2: 101,943,905 (GRCm39)	F56L	probably damaging	Het
Mapk4	A	T	18: 74,063,990 (GRCm39)	S411T	possibly damaging	Het
Mcm9	A	G	10: 53,492,019 (GRCm39)	M382T		Het
Muc21	TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT	TCCTGAGGCAGTGCTGGAT	17: 35,933,525 (GRCm39)		probably benign	Het
Or2t6	A	T	14: 14,175,477 (GRCm38)	C202S	probably damaging	Het
Or5b104	T	C	19: 13,072,596 (GRCm39)	T139A	probably benign	Het
Pacs1	A	C	19: 5,206,441 (GRCm39)	I248S	possibly damaging	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Plekhg1	T	C	10: 3,906,810 (GRCm39)	S631P		Het
Rars2	A	T	4: 34,645,747 (GRCm39)	K221N	probably benign	Het
Retsat	T	C	6: 72,583,002 (GRCm39)	S388P	possibly damaging	Het
Rft1	G	A	14: 30,404,814 (GRCm39)		probably null	Het
Rgsl1	A	G	1: 153,660,945 (GRCm39)	V345A	probably benign	Het
Rnf38	A	T	4: 44,137,620 (GRCm39)	S320R	probably benign	Het
Sel1l3	T	A	5: 53,301,451 (GRCm39)	Y722F	probably benign	Het
Slc13a4	T	C	6: 35,264,285 (GRCm39)	E194G	possibly damaging	Het
Spata17	G	A	1: 186,844,700 (GRCm39)	R300C	probably benign	Het
Tacc1	G	A	8: 25,731,656 (GRCm39)		probably benign	Het
Tet2	T	C	3: 133,192,953 (GRCm39)	S494G	probably benign	Het
Tmco5b	A	T	2: 113,121,722 (GRCm39)	I179L	probably damaging	Het
Triobp	AGGGACAATCCCAGGGCCTCCTCTCCCAACAGAACTACTCAGCGGGACAA	AGGGACAA	15: 78,851,042 (GRCm39)		probably benign	Het
Trpv1	A	G	11: 73,130,412 (GRCm39)	T173A	probably damaging	Het
Vmn2r56	C	T	7: 12,444,259 (GRCm39)	G458R	probably damaging	Het
Vmn2r81	T	G	10: 79,106,570 (GRCm39)		probably null	Het
Wfdc15b	T	A	2: 164,057,037 (GRCm39)	E80D	probably benign	Het
Wrn	A	T	8: 33,812,376 (GRCm39)	D423E	probably benign	Het
Zfp775	T	A	6: 48,597,415 (GRCm39)	C430S	possibly 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
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
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'- AAGCCACACTAGATACTTGTAGG -3'
(R):5'- TATTTCTAGGACTTCACAAAACCCC -3'

Sequencing Primer
(F):5'- TTTACCTGCAAAACTGTGA -3'
(R):5'- AGTTCAAGGCCAGCTTGATC -3'

Posted On

2019-06-26