Mutagenetix > Incidental Mutation

Incidental Mutation 'R0595:Tanc2'

55079

Institutional Source

Beutler Lab

Gene Symbol

Tanc2

Ensembl Gene

ENSMUSG00000053580

Gene Name

tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2

Synonyms

5730590C14Rik, 3526402J09Rik

MMRRC Submission

038785-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0595 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

105480812-105820130 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 105605003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100330] [ENSMUST00000167695] [ENSMUST00000167695] [ENSMUST00000168598] [ENSMUST00000207807]

AlphaFold

A2A690

Predicted Effect

probably benign
Transcript: ENSMUST00000100330

SMART Domains

Protein: ENSMUSP00000097904
Gene: ENSMUSG00000053580

Domain	Start	End	E-Value	Type
low complexity region	32	50	N/A	INTRINSIC
low complexity region	129	152	N/A	INTRINSIC
low complexity region	362	375	N/A	INTRINSIC
low complexity region	436	447	N/A	INTRINSIC
low complexity region	823	834	N/A	INTRINSIC
ANK	846	878	2.08e3	SMART
ANK	882	913	2.97e2	SMART
ANK	917	946	5.75e-1	SMART
ANK	950	979	8.62e1	SMART
ANK	990	1018	1.16e3	SMART
ANK	1033	1062	3.31e-1	SMART
ANK	1066	1095	7.71e-2	SMART
ANK	1099	1128	6.12e-5	SMART
ANK	1132	1161	8.99e-3	SMART
ANK	1165	1194	5.71e-5	SMART
ANK	1198	1227	2.11e2	SMART
TPR	1244	1277	3.89e1	SMART
TPR	1291	1324	3.61e-2	SMART
TPR	1325	1358	2.82e-4	SMART
low complexity region	1369	1406	N/A	INTRINSIC
low complexity region	1533	1539	N/A	INTRINSIC
low complexity region	1787	1802	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124367

Predicted Effect

probably null
Transcript: ENSMUST00000167695

Predicted Effect

probably null
Transcript: ENSMUST00000167695

Predicted Effect

probably benign
Transcript: ENSMUST00000168598

SMART Domains

Protein: ENSMUSP00000129877
Gene: ENSMUSG00000053580

Domain	Start	End	E-Value	Type
low complexity region	32	50	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207807

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.5%

Validation Efficiency

100% (50/50)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap vector die prior to E12. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,790,417 (GRCm39)	D1093E	probably damaging	Het
Aldh2	G	T	5: 121,711,563 (GRCm39)	A276D	probably damaging	Het
Aldh2	C	T	5: 121,711,564 (GRCm39)	A276T	probably damaging	Het
Aldh7a1	C	T	18: 56,679,965 (GRCm39)		probably benign	Het
Ano1	C	T	7: 144,143,890 (GRCm39)	R964H	possibly damaging	Het
Apob	G	A	12: 8,058,369 (GRCm39)	V2251I	probably benign	Het
Atp6v1e1	A	G	6: 120,778,091 (GRCm39)	V148A	probably benign	Het
Bbs9	T	A	9: 22,408,111 (GRCm39)	H73Q	probably benign	Het
Brca1	A	G	11: 101,415,713 (GRCm39)	V807A	probably benign	Het
Cacna1b	C	T	2: 24,540,001 (GRCm39)		probably benign	Het
Cadps2	A	T	6: 23,321,703 (GRCm39)		probably null	Het
Cep152	T	C	2: 125,436,983 (GRCm39)	Q519R	probably damaging	Het
Cep295	A	C	9: 15,243,487 (GRCm39)	Y1608*	probably null	Het
Cfap54	T	C	10: 92,720,598 (GRCm39)	I2619V	unknown	Het
Dnajb9	A	G	12: 44,255,067 (GRCm39)	V7A	probably benign	Het
Ep400	T	C	5: 110,851,408 (GRCm39)	K1358R	unknown	Het
Fbxw7	C	A	3: 84,884,674 (GRCm39)		probably null	Het
Fsip2	T	C	2: 82,777,296 (GRCm39)	Y108H	probably damaging	Het
Ggt6	T	A	11: 72,328,493 (GRCm39)	L331Q	probably damaging	Het
Ifitm1	T	A	7: 140,548,242 (GRCm39)	I25N	possibly damaging	Het
Krt75	C	T	15: 101,476,789 (GRCm39)	E367K	probably damaging	Het
Lifr	A	G	15: 7,206,950 (GRCm39)	Y487C	probably damaging	Het
Map3k6	G	T	4: 132,968,574 (GRCm39)	G59W	probably damaging	Het
Mme	A	G	3: 63,235,602 (GRCm39)	T129A	probably benign	Het
Mmp10	G	A	9: 7,508,199 (GRCm39)	E442K	probably benign	Het
Myh13	T	C	11: 67,235,672 (GRCm39)	S646P	probably benign	Het
Nbea	A	T	3: 55,535,917 (GRCm39)	I2889N	probably benign	Het
Nlrp4d	T	A	7: 10,114,972 (GRCm39)	K581N	probably benign	Het
Nr3c2	C	T	8: 77,636,233 (GRCm39)	P445S	possibly damaging	Het
Or5p63	A	T	7: 107,810,868 (GRCm39)	N289K	probably damaging	Het
Pck1	T	A	2: 172,998,822 (GRCm39)	V360E	probably damaging	Het
Plekha7	T	C	7: 115,744,203 (GRCm39)	D766G	probably damaging	Het
Prag1	A	G	8: 36,614,156 (GRCm39)	N1236S	probably damaging	Het
Prkdc	A	C	16: 15,625,952 (GRCm39)	Q3326P	probably damaging	Het
Prrc2b	T	C	2: 32,073,189 (GRCm39)	M57T	probably damaging	Het
Rb1	A	T	14: 73,511,120 (GRCm39)	F330I	probably damaging	Het
Rufy4	A	G	1: 74,180,089 (GRCm39)	E448G	possibly damaging	Het
Scn10a	T	A	9: 119,495,129 (GRCm39)	M371L	probably benign	Het
Sgta	T	C	10: 80,884,742 (GRCm39)	D189G	probably damaging	Het
Spata31d1b	A	G	13: 59,864,091 (GRCm39)	H413R	probably benign	Het
Stau2	T	C	1: 16,510,674 (GRCm39)	T95A	probably damaging	Het
Supt4a	C	T	11: 87,633,982 (GRCm39)		probably null	Het
Tap2	T	A	17: 34,431,328 (GRCm39)	V422D	probably damaging	Het
Tas2r138	A	G	6: 40,589,799 (GRCm39)	L149P	probably damaging	Het
Tex15	T	C	8: 34,062,645 (GRCm39)	S692P	probably damaging	Het
Tgm2	C	T	2: 157,984,962 (GRCm39)	R48H	probably damaging	Het
Ticrr	T	A	7: 79,345,311 (GRCm39)	F1725L	possibly damaging	Het
Tnpo2	T	A	8: 85,778,670 (GRCm39)	C672*	probably null	Het
Xkr9	A	G	1: 13,771,008 (GRCm39)	I175V	probably benign	Het
Zfp428	T	A	7: 24,214,803 (GRCm39)	S140T	probably benign	Het

Other mutations in Tanc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Tanc2	APN	11	105,814,046 (GRCm39)	missense	probably benign	0.28
IGL00688:Tanc2	APN	11	105,689,516 (GRCm39)	missense	probably damaging	1.00
IGL00709:Tanc2	APN	11	105,689,621 (GRCm39)	missense	probably damaging	1.00
IGL01013:Tanc2	APN	11	105,515,891 (GRCm39)	missense	probably damaging	0.96
IGL01141:Tanc2	APN	11	105,777,300 (GRCm39)	splice site	probably benign
IGL01386:Tanc2	APN	11	105,777,207 (GRCm39)	missense	probably damaging	0.99
IGL01433:Tanc2	APN	11	105,701,348 (GRCm39)	missense	possibly damaging	0.75
IGL01562:Tanc2	APN	11	105,670,895 (GRCm39)	missense	probably benign	0.00
IGL01979:Tanc2	APN	11	105,667,746 (GRCm39)	missense	probably benign
IGL02104:Tanc2	APN	11	105,670,959 (GRCm39)	unclassified	probably benign
IGL02434:Tanc2	APN	11	105,670,868 (GRCm39)	missense	probably benign	0.14
IGL02534:Tanc2	APN	11	105,725,994 (GRCm39)	missense	probably damaging	1.00
IGL02568:Tanc2	APN	11	105,667,777 (GRCm39)	missense	probably benign	0.00
IGL03279:Tanc2	APN	11	105,803,918 (GRCm39)	splice site	probably null
R1131:Tanc2	UTSW	11	105,725,828 (GRCm39)	missense	probably damaging	1.00
R1320:Tanc2	UTSW	11	105,777,270 (GRCm39)	missense	probably damaging	1.00
R1487:Tanc2	UTSW	11	105,814,460 (GRCm39)	missense	probably damaging	0.99
R1497:Tanc2	UTSW	11	105,812,963 (GRCm39)	missense	probably benign	0.21
R1692:Tanc2	UTSW	11	105,748,326 (GRCm39)	missense	probably benign
R1712:Tanc2	UTSW	11	105,790,606 (GRCm39)	missense	probably benign
R1793:Tanc2	UTSW	11	105,515,859 (GRCm39)	critical splice acceptor site	probably null
R1812:Tanc2	UTSW	11	105,777,212 (GRCm39)	missense	probably benign	0.01
R1905:Tanc2	UTSW	11	105,813,689 (GRCm39)	missense	possibly damaging	0.61
R1959:Tanc2	UTSW	11	105,801,121 (GRCm39)	missense	probably damaging	1.00
R1962:Tanc2	UTSW	11	105,689,558 (GRCm39)	missense	probably benign	0.14
R2122:Tanc2	UTSW	11	105,786,775 (GRCm39)	missense	probably damaging	1.00
R2174:Tanc2	UTSW	11	105,801,135 (GRCm39)	missense	probably benign	0.00
R2341:Tanc2	UTSW	11	105,725,877 (GRCm39)	missense	probably benign	0.09
R2497:Tanc2	UTSW	11	105,564,319 (GRCm39)	critical splice donor site	probably null
R3438:Tanc2	UTSW	11	105,748,401 (GRCm39)	missense	probably damaging	0.97
R3711:Tanc2	UTSW	11	105,689,516 (GRCm39)	missense	probably damaging	1.00
R3765:Tanc2	UTSW	11	105,805,796 (GRCm39)	missense	probably damaging	1.00
R3890:Tanc2	UTSW	11	105,689,504 (GRCm39)	missense	probably damaging	1.00
R4193:Tanc2	UTSW	11	105,804,888 (GRCm39)	intron	probably benign
R4609:Tanc2	UTSW	11	105,801,066 (GRCm39)	missense	probably benign	0.24
R4674:Tanc2	UTSW	11	105,758,306 (GRCm39)	missense	probably damaging	1.00
R4928:Tanc2	UTSW	11	105,758,588 (GRCm39)	missense	probably damaging	1.00
R5008:Tanc2	UTSW	11	105,515,886 (GRCm39)	start codon destroyed	probably null	0.46
R5010:Tanc2	UTSW	11	105,670,918 (GRCm39)	missense	probably damaging	1.00
R5135:Tanc2	UTSW	11	105,748,379 (GRCm39)	missense	possibly damaging	0.93
R5385:Tanc2	UTSW	11	105,667,672 (GRCm39)	missense	probably damaging	0.99
R5409:Tanc2	UTSW	11	105,758,311 (GRCm39)	missense	possibly damaging	0.93
R5419:Tanc2	UTSW	11	105,813,709 (GRCm39)	missense	probably benign	0.00
R5501:Tanc2	UTSW	11	105,805,811 (GRCm39)	critical splice donor site	probably null
R5590:Tanc2	UTSW	11	105,814,132 (GRCm39)	missense	probably damaging	0.99
R5651:Tanc2	UTSW	11	105,689,526 (GRCm39)	missense	probably benign	0.44
R5798:Tanc2	UTSW	11	105,812,681 (GRCm39)	small deletion	probably benign
R5876:Tanc2	UTSW	11	105,813,439 (GRCm39)	missense	possibly damaging	0.71
R5889:Tanc2	UTSW	11	105,812,633 (GRCm39)	missense	probably benign	0.23
R5958:Tanc2	UTSW	11	105,731,451 (GRCm39)	missense	probably benign	0.00
R5999:Tanc2	UTSW	11	105,758,543 (GRCm39)	missense	probably damaging	1.00
R6024:Tanc2	UTSW	11	105,814,498 (GRCm39)	missense	probably damaging	1.00
R6024:Tanc2	UTSW	11	105,758,543 (GRCm39)	missense	probably damaging	1.00
R6025:Tanc2	UTSW	11	105,787,373 (GRCm39)	missense	possibly damaging	0.68
R6025:Tanc2	UTSW	11	105,758,543 (GRCm39)	missense	probably damaging	1.00
R6048:Tanc2	UTSW	11	105,758,543 (GRCm39)	missense	probably damaging	1.00
R6049:Tanc2	UTSW	11	105,758,543 (GRCm39)	missense	probably damaging	1.00
R6185:Tanc2	UTSW	11	105,803,865 (GRCm39)	missense	probably damaging	1.00
R6335:Tanc2	UTSW	11	105,748,382 (GRCm39)	missense	probably damaging	0.99
R6821:Tanc2	UTSW	11	105,777,316 (GRCm39)	splice site	probably null
R6846:Tanc2	UTSW	11	105,689,479 (GRCm39)	missense	probably benign	0.34
R6857:Tanc2	UTSW	11	105,801,114 (GRCm39)	missense	possibly damaging	0.81
R6904:Tanc2	UTSW	11	105,726,056 (GRCm39)	missense	possibly damaging	0.89
R7009:Tanc2	UTSW	11	105,731,525 (GRCm39)	missense	possibly damaging	0.47
R7017:Tanc2	UTSW	11	105,813,934 (GRCm39)	missense	probably benign
R7371:Tanc2	UTSW	11	105,689,422 (GRCm39)	missense	probably benign
R7556:Tanc2	UTSW	11	105,799,857 (GRCm39)	missense
R7630:Tanc2	UTSW	11	105,667,734 (GRCm39)	missense	probably benign	0.04
R7693:Tanc2	UTSW	11	105,814,293 (GRCm39)	missense	probably damaging	1.00
R7757:Tanc2	UTSW	11	105,667,684 (GRCm39)	missense	possibly damaging	0.81
R7807:Tanc2	UTSW	11	105,758,480 (GRCm39)	missense	probably benign	0.00
R7878:Tanc2	UTSW	11	105,804,241 (GRCm39)	missense
R7895:Tanc2	UTSW	11	105,812,651 (GRCm39)	missense	probably damaging	1.00
R7952:Tanc2	UTSW	11	105,787,423 (GRCm39)	missense	probably damaging	1.00
R8099:Tanc2	UTSW	11	105,754,833 (GRCm39)	missense	probably benign	0.17
R8117:Tanc2	UTSW	11	105,725,988 (GRCm39)	missense	probably damaging	1.00
R8133:Tanc2	UTSW	11	105,814,048 (GRCm39)	missense	probably damaging	0.97
R8422:Tanc2	UTSW	11	105,726,014 (GRCm39)	missense	probably benign	0.10
R8527:Tanc2	UTSW	11	105,807,834 (GRCm39)	missense	probably damaging	0.96
R8542:Tanc2	UTSW	11	105,807,834 (GRCm39)	missense	probably damaging	0.96
R8834:Tanc2	UTSW	11	105,807,845 (GRCm39)	missense
R8912:Tanc2	UTSW	11	105,758,153 (GRCm39)	missense	probably benign	0.01
R8927:Tanc2	UTSW	11	105,701,331 (GRCm39)	missense	probably damaging	0.99
R8928:Tanc2	UTSW	11	105,701,331 (GRCm39)	missense	probably damaging	0.99
R8968:Tanc2	UTSW	11	105,758,400 (GRCm39)	missense	possibly damaging	0.50
R9065:Tanc2	UTSW	11	105,689,518 (GRCm39)	nonsense	probably null
R9095:Tanc2	UTSW	11	105,758,104 (GRCm39)	missense	probably benign	0.00
R9108:Tanc2	UTSW	11	105,810,580 (GRCm39)	intron	probably benign
R9131:Tanc2	UTSW	11	105,689,603 (GRCm39)	missense	probably benign
R9294:Tanc2	UTSW	11	105,777,284 (GRCm39)	missense	probably damaging	0.99
R9445:Tanc2	UTSW	11	105,758,290 (GRCm39)	missense	possibly damaging	0.80
X0027:Tanc2	UTSW	11	105,726,009 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- TCACATTCACAGACGGAGACATTGG -3'
(R):5'- AGAGGATGCTGCCTAAAATGCCAC -3'

Sequencing Primer
(F):5'- GTTCAGCAAATGTATAGACATGAGCC -3'
(R):5'- TGCCACAGTGAAAGTCGTC -3'

Posted On

2013-07-11