Mutagenetix > Incidental Mutation

Incidental Mutation 'R6024:Tanc2'

479101

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

044196-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6024 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105480812-105820130 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 105758543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 768 (R768Q)

Ref Sequence

ENSEMBL: ENSMUSP00000097904 (fasta)

Gene Model

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

AlphaFold

A2A690

Predicted Effect

probably damaging
Transcript: ENSMUST00000100330
AA Change: R768Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097904
Gene: ENSMUSG00000053580
AA Change: R768Q

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

Meta Mutation Damage Score

0.1170

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,624,624 (GRCm39)	F3782L	probably benign	Het
Akr1d1	T	C	6: 37,535,417 (GRCm39)	I267T	probably benign	Het
Aoc1l1	A	T	6: 48,953,030 (GRCm39)	K318N	possibly damaging	Het
Arhgef5	T	C	6: 43,252,068 (GRCm39)	S940P	probably benign	Het
Art2b	A	G	7: 101,229,587 (GRCm39)	I104T	probably benign	Het
Avpr1a	A	G	10: 122,285,053 (GRCm39)	Y115C	probably damaging	Het
Cdc42bpg	T	A	19: 6,367,526 (GRCm39)	L995Q	probably damaging	Het
Cenatac	T	C	9: 44,329,249 (GRCm39)	T13A	possibly damaging	Het
Clip1	T	C	5: 123,753,152 (GRCm39)	K210E	possibly damaging	Het
Cog4	C	T	8: 111,608,112 (GRCm39)	T735I	probably damaging	Het
Creb3l4	G	A	3: 90,146,006 (GRCm39)	S206L	probably damaging	Het
Csf3r	C	A	4: 125,931,310 (GRCm39)		probably null	Het
Dnah11	G	T	12: 117,994,007 (GRCm39)	S2346R	probably benign	Het
Dnai2	A	T	11: 114,643,734 (GRCm39)	I467F	possibly damaging	Het
Dpy19l4	A	T	4: 11,276,876 (GRCm39)	M523K	probably damaging	Het
Ebf3	T	C	7: 136,802,264 (GRCm39)	D407G	probably damaging	Het
Fbn2	A	G	18: 58,209,908 (GRCm39)	I991T	probably benign	Het
Gcc1	T	C	6: 28,419,299 (GRCm39)	T345A	probably benign	Het
Gm1527	C	T	3: 28,974,752 (GRCm39)	H522Y	probably benign	Het
Gm4846	T	A	1: 166,317,696 (GRCm39)	Y240F	probably benign	Het
Hmgcl	T	C	4: 135,682,926 (GRCm39)	V126A	probably benign	Het
Ifit1bl2	G	T	19: 34,597,438 (GRCm39)	S59R	probably benign	Het
Itga6	A	G	2: 71,617,577 (GRCm39)	N32S	probably benign	Het
Lcor	C	A	19: 41,572,396 (GRCm39)	P384T	possibly damaging	Het
Macc1	T	C	12: 119,414,160 (GRCm39)	S779P	probably benign	Het
Mctp1	G	T	13: 76,533,280 (GRCm39)	L209F	probably damaging	Het
Mink1	A	G	11: 70,489,915 (GRCm39)	N97S	possibly damaging	Het
Mst1r	T	A	9: 107,785,350 (GRCm39)	V336E	probably benign	Het
Muc16	A	T	9: 18,557,967 (GRCm39)	S2775R	unknown	Het
Muc6	T	A	7: 141,227,841 (GRCm39)	T1316S	possibly damaging	Het
Myh11	T	A	16: 14,095,567 (GRCm39)	N65I	probably damaging	Het
Myo9a	A	G	9: 59,762,671 (GRCm39)	N801D	possibly damaging	Het
Nkain2	A	T	10: 31,827,281 (GRCm39)	M103K	probably damaging	Het
Nkx2-2	T	A	2: 147,025,961 (GRCm39)	Y259F	probably benign	Het
Nrxn1	T	C	17: 90,897,526 (GRCm39)	M877V	possibly damaging	Het
Nxf1	C	T	19: 8,745,108 (GRCm39)	L453F	probably damaging	Het
Pcnt	T	C	10: 76,255,871 (GRCm39)	S790G	possibly damaging	Het
Phf3	T	C	1: 30,902,307 (GRCm39)	D2G	probably damaging	Het
Phrf1	T	C	7: 140,838,898 (GRCm39)		probably benign	Het
Ptpn3	C	A	4: 57,248,653 (GRCm39)		probably null	Het
Pygl	T	C	12: 70,243,841 (GRCm39)	T625A	probably benign	Het
R3hdm2	T	A	10: 127,295,349 (GRCm39)	F239I	probably damaging	Het
Sesn1	A	T	10: 41,772,196 (GRCm39)	I242F	probably damaging	Het
Shank2	C	T	7: 143,733,768 (GRCm39)	T105I	probably benign	Het
Skint3	T	C	4: 112,147,543 (GRCm39)	F350S	possibly damaging	Het
Slco5a1	T	C	1: 13,014,294 (GRCm39)	Y320C	probably damaging	Het
Syt11	A	G	3: 88,669,416 (GRCm39)	S159P	probably benign	Het
Tmem200c	A	C	17: 69,148,722 (GRCm39)	D435A	possibly damaging	Het
Trappc8	A	G	18: 20,966,066 (GRCm39)	V1125A	probably damaging	Het
Ttn	A	G	2: 76,644,487 (GRCm39)	V4762A	possibly damaging	Het
Unc5d	A	G	8: 29,365,539 (GRCm39)	S149P	possibly damaging	Het
Usf3	A	T	16: 44,040,203 (GRCm39)	N1561I	probably damaging	Het
Wdr4	A	T	17: 31,720,272 (GRCm39)		probably benign	Het
Wdr49	T	G	3: 75,209,133 (GRCm39)	E612D	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
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
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'- TCTCCTGAATGTGGCAGTAGC -3'
(R):5'- GCACTGCTAAACTTGCAGCC -3'

Sequencing Primer
(F):5'- GCAGTAGCCTCTCTCCACC -3'
(R):5'- TGCAGAGAAAAATCTCCTCTGTGG -3'

Posted On

2017-06-26