Mutagenetix > Incidental Mutation

Incidental Mutation 'R2187:Tc2n'

237888

Institutional Source

Beutler Lab

Gene Symbol

Tc2n

Ensembl Gene

ENSMUSG00000021187

Gene Name

tandem C2 domains, nuclear

Synonyms

4933406D09Rik, Mtac2d1, Tac2-N

MMRRC Submission

040189-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R2187 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101611702-101684782 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 101672803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 46 (T46I)

Ref Sequence

ENSEMBL: ENSMUSP00000125099 (fasta)

Gene Model

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

AlphaFold

Q91XT6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110047
AA Change: T46I

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105674
Gene: ENSMUSG00000021187
AA Change: T46I

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: T46I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125099
Gene: ENSMUSG00000021187
AA Change: T46I

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

possibly damaging
Transcript: ENSMUST00000160830
AA Change: T46I

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124287
Gene: ENSMUSG00000021187
AA Change: T46I

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

possibly damaging
Transcript: ENSMUST00000162735
AA Change: T46I

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125288
Gene: ENSMUSG00000021187
AA Change: T46I

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	A	17: 31,324,491 (GRCm39)	S245R	probably damaging	Het
AI597479	T	A	1: 43,139,983 (GRCm39)	W70R	probably damaging	Het
Ankrd55	A	G	13: 112,520,039 (GRCm39)	S575G	probably benign	Het
Bfsp2	T	A	9: 103,303,976 (GRCm39)	K343*	probably null	Het
Cant1	A	T	11: 118,299,667 (GRCm39)	Y227*	probably null	Het
Cd2bp2	T	C	7: 126,793,963 (GRCm39)	N109D	probably benign	Het
Chmp6	A	G	11: 119,807,562 (GRCm39)	E135G	possibly damaging	Het
Dsp	T	G	13: 38,360,383 (GRCm39)	S329R	probably damaging	Het
Epha5	A	T	5: 84,234,223 (GRCm39)	F767L	probably damaging	Het
Epha7	A	T	4: 28,942,648 (GRCm39)	T566S	possibly damaging	Het
Erap1	A	T	13: 74,810,524 (GRCm39)	I288F	probably damaging	Het
Erich6	A	G	3: 58,537,266 (GRCm39)		probably null	Het
Fbxo10	A	G	4: 45,058,531 (GRCm39)	V402A	probably benign	Het
Fndc1	T	A	17: 7,960,604 (GRCm39)	I1604F	probably damaging	Het
Foxd4	T	G	19: 24,877,219 (GRCm39)	Q327P	probably damaging	Het
Fxn	T	A	19: 24,257,853 (GRCm39)	N26I	probably benign	Het
Hsf5	G	T	11: 87,529,010 (GRCm39)	G582C	possibly damaging	Het
Itga8	A	G	2: 12,199,231 (GRCm39)	V522A	possibly damaging	Het
Kplce	A	G	3: 92,775,922 (GRCm39)	S254P	probably damaging	Het
Lyst	C	T	13: 13,883,926 (GRCm39)	T2938I	possibly damaging	Het
Mib2	T	C	4: 155,739,390 (GRCm39)	E863G	possibly damaging	Het
Mrgpra9	A	G	7: 46,884,797 (GRCm39)	F290S	probably damaging	Het
Mst1	T	C	9: 107,961,539 (GRCm39)	Y599H	possibly damaging	Het
Mylk4	T	C	13: 32,905,996 (GRCm39)	I165V	probably damaging	Het
Nipsnap2	T	C	5: 129,823,537 (GRCm39)		probably null	Het
Nol8	T	C	13: 49,815,475 (GRCm39)	Y528H	probably benign	Het
Nup93	T	A	8: 95,027,478 (GRCm39)	S295R	probably damaging	Het
Nutm2	A	T	13: 50,621,453 (GRCm39)	Q6L	probably benign	Het
Or2b6	A	T	13: 21,823,555 (GRCm39)	I46N	probably damaging	Het
Or5ak20	T	G	2: 85,184,259 (GRCm39)	S4R	probably benign	Het
Or5b12b	T	A	19: 12,861,619 (GRCm39)	C125S	probably damaging	Het
Or6c33	A	G	10: 129,853,557 (GRCm39)	E109G	probably damaging	Het
Pip5k1a	A	T	3: 94,979,229 (GRCm39)	L189Q	probably damaging	Het
Plekha4	C	T	7: 45,198,698 (GRCm39)	R574C	probably damaging	Het
Ppp2cb	A	G	8: 34,100,705 (GRCm39)	E42G	possibly damaging	Het
Prkd3	T	A	17: 79,282,983 (GRCm39)	Q244L	probably benign	Het
Ptpn14	C	T	1: 189,595,425 (GRCm39)	R1023*	probably null	Het
Ptpra	A	G	2: 130,346,219 (GRCm39)	T127A	probably benign	Het
Rad54l2	ACCTCCTCCTCCTCCTCCTCCTCCTC	ACCTCCTCCTCCTCCTCCTCCTC	9: 106,631,191 (GRCm39)		probably benign	Het
Rasgrf1	T	C	9: 89,876,888 (GRCm39)	I751T	possibly damaging	Het
Rbm27	A	G	18: 42,459,022 (GRCm39)	K697R	probably damaging	Het
Rhoa	C	T	9: 108,212,352 (GRCm39)	T127M	probably benign	Het
Rnpepl1	A	G	1: 92,844,617 (GRCm39)	S370G	probably null	Het
Sdk1	C	T	5: 142,100,329 (GRCm39)	T1453I	probably damaging	Het
Sel1l2	A	G	2: 140,072,793 (GRCm39)	L614S	probably damaging	Het
Slc6a20b	T	A	9: 123,427,653 (GRCm39)	I419F	probably damaging	Het
Slc8a1	C	T	17: 81,955,982 (GRCm39)	S352N	possibly damaging	Het
Spta1	A	G	1: 174,020,532 (GRCm39)	D547G	probably damaging	Het
Terb1	T	A	8: 105,199,516 (GRCm39)	Y476F	probably benign	Het
Trim12a	T	A	7: 103,953,399 (GRCm39)	E237D	probably damaging	Het
Usp47	T	C	7: 111,666,398 (GRCm39)	L309P	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
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
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'- AGCACTTAAATGGTTCATGTTGAC -3'
(R):5'- GGAATGGGGATAACATTTAAAATGCA -3'

Sequencing Primer
(F):5'- GGTTCATGTTGACTTTTAAATCCTG -3'
(R):5'- ATGTTCCAGGTGGCACATAC -3'

Posted On

2014-10-02