Mutagenetix > Incidental Mutation

Incidental Mutation 'R5798:Tanc2'

447317

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

043210-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5798 (G1)

Quality Score

112

Status

Not validated

Chromosome

Chromosomal Location

105480812-105820130 bp(+) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

TGCAGCAGCAGCAGCAGCAGCAGC to TGCAGCAGCAGCAGCAGCAGC at 105812681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

A2A690

Predicted Effect

probably benign
Transcript: ENSMUST00000089485

SMART Domains

Protein: ENSMUSP00000086912
Gene: ENSMUSG00000053580

Domain	Start	End	E-Value	Type
ANK	35	63	1.16e3	SMART
ANK	78	107	3.31e-1	SMART
ANK	111	140	7.71e-2	SMART
ANK	144	173	6.12e-5	SMART
ANK	177	206	8.99e-3	SMART
ANK	210	239	5.71e-5	SMART
ANK	243	272	2.11e2	SMART
Blast:TPR	289	322	3e-14	BLAST

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

probably benign
Transcript: ENSMUST00000146162

SMART Domains

Protein: ENSMUSP00000123674
Gene: ENSMUSG00000053580

Domain	Start	End	E-Value	Type
ANK	15	46	2.97e2	SMART
ANK	50	79	5.75e-1	SMART
ANK	83	112	8.62e1	SMART
ANK	123	151	1.16e3	SMART
ANK	166	195	3.31e-1	SMART
ANK	199	228	7.71e-2	SMART
ANK	232	261	6.12e-5	SMART
ANK	265	294	8.99e-3	SMART
ANK	298	327	5.71e-5	SMART
ANK	331	360	3.44e1	SMART
TPR	387	420	3.89e1	SMART
TPR	434	467	3.61e-2	SMART
TPR	468	501	2.82e-4	SMART
low complexity region	512	549	N/A	INTRINSIC
low complexity region	676	682	N/A	INTRINSIC
low complexity region	930	945	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,616,929 (GRCm39)	Y1226*	probably null	Het
Ankle2	A	G	5: 110,399,401 (GRCm39)	Y587C	probably damaging	Het
Ankrd52	T	A	10: 128,223,479 (GRCm39)	M697K	probably benign	Het
Arhgef40	G	T	14: 52,234,489 (GRCm39)	A931S	probably damaging	Het
Atp9a	A	G	2: 168,532,884 (GRCm39)		probably null	Het
Ccdc169	T	C	3: 55,047,545 (GRCm39)	V12A	possibly damaging	Het
Ces3b	T	A	8: 105,815,072 (GRCm39)	C284S	probably damaging	Het
Crocc	TCTGAGCTGCTGAGCTGC	TCTGAGCTGC	4: 140,769,118 (GRCm39)		probably null	Het
Ecel1	A	T	1: 87,079,205 (GRCm39)	M491K	probably damaging	Het
Gnaz	C	T	10: 74,850,703 (GRCm39)	R243W	probably damaging	Het
Homer1	C	A	13: 93,538,603 (GRCm39)	R311S	probably damaging	Het
Myo5c	A	G	9: 75,191,480 (GRCm39)	D1118G	probably benign	Het
Or14j10	A	G	17: 37,934,881 (GRCm39)	V215A	probably benign	Het
Or52e7	A	C	7: 104,685,344 (GRCm39)	K313T	probably benign	Het
Pecam1	C	T	11: 106,586,658 (GRCm39)	E185K	possibly damaging	Het
Rfx2	A	T	17: 57,111,362 (GRCm39)	V70E	possibly damaging	Het
Sdk2	G	A	11: 113,717,942 (GRCm39)	T1474M	probably damaging	Het
Slc39a12	G	A	2: 14,454,637 (GRCm39)	A516T	probably damaging	Het
Timd2	T	C	11: 46,568,064 (GRCm39)	I243M	probably benign	Het
Vmn2r108	A	T	17: 20,692,545 (GRCm39)	S104T	probably benign	Het
Vmn2r56	T	C	7: 12,446,892 (GRCm39)	N420S	probably benign	Het
Zfp148	T	C	16: 33,316,513 (GRCm39)	I353T	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
R0595:Tanc2	UTSW	11	105,605,003 (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
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'- AAATGCTACCTGATGCAGTTCTC -3'
(R):5'- TGTCTGGAGGCCAATAGAAAC -3'

Sequencing Primer
(F):5'- CAGTTCTCTGAATTGGTGGCC -3'
(R):5'- GTCTGGAGGCCAATAGAAACATTTTC -3'

Posted On

2016-12-15