Mutagenetix > Incidental Mutation

Incidental Mutation 'R5876:Tanc2'

455546

Institutional Source

Beutler Lab

Gene Symbol

Tanc2

Ensembl Gene

ENSMUSG00000053580

Gene Name

tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2

Synonyms

5730590C14Rik, 3526402J09Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5876 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105589986-105929304 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105922613 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1628 (S1628P)

Ref Sequence

ENSEMBL: ENSMUSP00000097904 (fasta)

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

possibly damaging
Transcript: ENSMUST00000100330
AA Change: S1628P

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097904
Gene: ENSMUSG00000053580
AA Change: S1628P

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

unknown
Transcript: ENSMUST00000146162
AA Change: S770P

SMART Domains

Protein: ENSMUSP00000123674
Gene: ENSMUSG00000053580
AA Change: S770P

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034E13Rik	A	G	18: 52,663,582 (GRCm38)	D64G	possibly damaging	Het
Ano2	T	A	6: 126,039,279 (GRCm38)	M925K	possibly damaging	Het
Arnt2	T	C	7: 84,347,512 (GRCm38)	T69A	probably damaging	Het
Asap2	T	A	12: 21,212,809 (GRCm38)	N229K	possibly damaging	Het
Atp13a3	T	A	16: 30,362,734 (GRCm38)	N23Y	probably benign	Het
Cbr4	G	A	8: 61,490,593 (GRCm38)	G91R	possibly damaging	Het
Cdc27	A	T	11: 104,515,418 (GRCm38)	C624S	probably benign	Het
Cdc42bpg	T	A	19: 6,310,815 (GRCm38)	I201N	probably damaging	Het
Cdh5	A	G	8: 104,142,577 (GRCm38)	Y645C	probably damaging	Het
Celsr2	C	T	3: 108,413,943 (GRCm38)	V518I	probably damaging	Het
Clca4b	T	C	3: 144,912,060 (GRCm38)	T761A	possibly damaging	Het
Cpne4	C	A	9: 104,925,770 (GRCm38)	S204R	probably damaging	Het
Dcaf1	T	C	9: 106,863,650 (GRCm38)	W1279R	probably damaging	Het
Dennd4a	C	T	9: 64,911,755 (GRCm38)	P1731S	probably damaging	Het
Dmxl1	T	A	18: 49,870,984 (GRCm38)	V892D	possibly damaging	Het
Fam131b	A	G	6: 42,321,248 (GRCm38)		probably null	Het
Fam83b	T	A	9: 76,491,850 (GRCm38)	D657V	possibly damaging	Het
Fam83e	T	A	7: 45,722,363 (GRCm38)		probably null	Het
Fbxo4	A	T	15: 3,977,819 (GRCm38)	I121N	probably damaging	Het
Gabrg2	A	G	11: 41,968,820 (GRCm38)	S202P	probably damaging	Het
Gm10471	T	C	5: 26,084,718 (GRCm38)	E237G	probably damaging	Het
Grid2	T	A	6: 64,663,162 (GRCm38)	I788N	probably damaging	Het
Grik4	T	A	9: 42,688,023 (GRCm38)	N53Y	probably damaging	Het
Hipk2	A	C	6: 38,730,867 (GRCm38)		probably null	Het
Hps5	T	C	7: 46,789,196 (GRCm38)	T38A	probably damaging	Het
Hs1bp3	A	G	12: 8,341,843 (GRCm38)	D315G	possibly damaging	Het
Kdm4a	C	T	4: 118,138,876 (GRCm38)	M985I	probably damaging	Het
Kdm5d	A	G	Y: 900,525 (GRCm38)	Y190C	probably damaging	Het
Krt86	T	C	15: 101,476,610 (GRCm38)	S295P	probably damaging	Het
Matr3	T	A	18: 35,587,738 (GRCm38)	D413E	probably benign	Het
Mbd5	T	A	2: 49,274,645 (GRCm38)	F319L	probably damaging	Het
Mcoln1	T	A	8: 3,510,910 (GRCm38)	Y411N	probably damaging	Het
Mpdz	C	A	4: 81,285,474 (GRCm38)	E1863*	probably null	Het
Mrps9	A	G	1: 42,895,378 (GRCm38)	E173G	probably damaging	Het
Olfr8	A	T	10: 78,955,357 (GRCm38)	I51F	probably benign	Het
Osmr	T	C	15: 6,821,047 (GRCm38)	T692A	probably benign	Het
Pkhd1l1	A	T	15: 44,578,588 (GRCm38)	H3641L	possibly damaging	Het
Pml	T	C	9: 58,233,182 (GRCm38)	T421A	possibly damaging	Het
Podxl	A	G	6: 31,528,456 (GRCm38)		probably null	Het
Ppargc1b	C	G	18: 61,309,093 (GRCm38)	D591H	probably damaging	Het
Prkag3	A	G	1: 74,748,816 (GRCm38)		probably benign	Het
Proz	A	G	8: 13,073,448 (GRCm38)	R240G	probably benign	Het
Ptpn13	C	A	5: 103,476,960 (GRCm38)	D43E	probably damaging	Het
Rbm5	T	G	9: 107,760,326 (GRCm38)	K135N	probably damaging	Het
Ska1	G	A	18: 74,197,528 (GRCm38)	T201M	probably damaging	Het
Slc35f5	A	C	1: 125,587,363 (GRCm38)		probably null	Het
Slc9a3	T	C	13: 74,161,723 (GRCm38)	L510P	probably damaging	Het
Svil	A	G	18: 5,082,828 (GRCm38)	K1231E	probably damaging	Het
Tm9sf3	T	A	19: 41,240,584 (GRCm38)	D260V	probably damaging	Het
Ttc9	G	T	12: 81,631,622 (GRCm38)	R73L	probably damaging	Het
Vps13b	A	G	15: 35,917,061 (GRCm38)	I3684V	probably damaging	Het
Vps8	T	C	16: 21,461,439 (GRCm38)		probably null	Het
Vwa3b	T	A	1: 37,076,439 (GRCm38)	I328N	probably damaging	Het
Wdr1	C	T	5: 38,530,023 (GRCm38)	V222M	probably benign	Het
Xpnpep1	T	A	19: 52,997,008 (GRCm38)	T530S	probably damaging	Het
Zc3h6	C	T	2: 128,993,277 (GRCm38)	S111F	probably benign	Het
Zfp768	G	A	7: 127,344,546 (GRCm38)	P137S	probably benign	Het

Other mutations in Tanc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Tanc2	APN	11	105,923,220 (GRCm38)	missense	probably benign	0.28
IGL00688:Tanc2	APN	11	105,798,690 (GRCm38)	missense	probably damaging	1.00
IGL00709:Tanc2	APN	11	105,798,795 (GRCm38)	missense	probably damaging	1.00
IGL01013:Tanc2	APN	11	105,625,065 (GRCm38)	missense	probably damaging	0.96
IGL01141:Tanc2	APN	11	105,886,474 (GRCm38)	splice site	probably benign
IGL01386:Tanc2	APN	11	105,886,381 (GRCm38)	missense	probably damaging	0.99
IGL01433:Tanc2	APN	11	105,810,522 (GRCm38)	missense	possibly damaging	0.75
IGL01562:Tanc2	APN	11	105,780,069 (GRCm38)	missense	probably benign	0.00
IGL01979:Tanc2	APN	11	105,776,920 (GRCm38)	missense	probably benign
IGL02104:Tanc2	APN	11	105,780,133 (GRCm38)	unclassified	probably benign
IGL02434:Tanc2	APN	11	105,780,042 (GRCm38)	missense	probably benign	0.14
IGL02534:Tanc2	APN	11	105,835,168 (GRCm38)	missense	probably damaging	1.00
IGL02568:Tanc2	APN	11	105,776,951 (GRCm38)	missense	probably benign	0.00
IGL03279:Tanc2	APN	11	105,913,092 (GRCm38)	splice site	probably null
R0595:Tanc2	UTSW	11	105,714,177 (GRCm38)	splice site	probably null
R1131:Tanc2	UTSW	11	105,835,002 (GRCm38)	missense	probably damaging	1.00
R1320:Tanc2	UTSW	11	105,886,444 (GRCm38)	missense	probably damaging	1.00
R1487:Tanc2	UTSW	11	105,923,634 (GRCm38)	missense	probably damaging	0.99
R1497:Tanc2	UTSW	11	105,922,137 (GRCm38)	missense	probably benign	0.21
R1692:Tanc2	UTSW	11	105,857,500 (GRCm38)	missense	probably benign
R1712:Tanc2	UTSW	11	105,899,780 (GRCm38)	missense	probably benign
R1793:Tanc2	UTSW	11	105,625,033 (GRCm38)	critical splice acceptor site	probably null
R1812:Tanc2	UTSW	11	105,886,386 (GRCm38)	missense	probably benign	0.01
R1905:Tanc2	UTSW	11	105,922,863 (GRCm38)	missense	possibly damaging	0.61
R1959:Tanc2	UTSW	11	105,910,295 (GRCm38)	missense	probably damaging	1.00
R1962:Tanc2	UTSW	11	105,798,732 (GRCm38)	missense	probably benign	0.14
R2122:Tanc2	UTSW	11	105,895,949 (GRCm38)	missense	probably damaging	1.00
R2174:Tanc2	UTSW	11	105,910,309 (GRCm38)	missense	probably benign	0.00
R2341:Tanc2	UTSW	11	105,835,051 (GRCm38)	missense	probably benign	0.09
R2497:Tanc2	UTSW	11	105,673,493 (GRCm38)	critical splice donor site	probably null
R3438:Tanc2	UTSW	11	105,857,575 (GRCm38)	missense	probably damaging	0.97
R3711:Tanc2	UTSW	11	105,798,690 (GRCm38)	missense	probably damaging	1.00
R3765:Tanc2	UTSW	11	105,914,970 (GRCm38)	missense	probably damaging	1.00
R3890:Tanc2	UTSW	11	105,798,678 (GRCm38)	missense	probably damaging	1.00
R4193:Tanc2	UTSW	11	105,914,062 (GRCm38)	intron	probably benign
R4609:Tanc2	UTSW	11	105,910,240 (GRCm38)	missense	probably benign	0.24
R4674:Tanc2	UTSW	11	105,867,480 (GRCm38)	missense	probably damaging	1.00
R4928:Tanc2	UTSW	11	105,867,762 (GRCm38)	missense	probably damaging	1.00
R5008:Tanc2	UTSW	11	105,625,060 (GRCm38)	start codon destroyed	probably null	0.46
R5010:Tanc2	UTSW	11	105,780,092 (GRCm38)	missense	probably damaging	1.00
R5135:Tanc2	UTSW	11	105,857,553 (GRCm38)	missense	possibly damaging	0.93
R5385:Tanc2	UTSW	11	105,776,846 (GRCm38)	missense	probably damaging	0.99
R5409:Tanc2	UTSW	11	105,867,485 (GRCm38)	missense	possibly damaging	0.93
R5419:Tanc2	UTSW	11	105,922,883 (GRCm38)	missense	probably benign	0.00
R5501:Tanc2	UTSW	11	105,914,985 (GRCm38)	critical splice donor site	probably null
R5590:Tanc2	UTSW	11	105,923,306 (GRCm38)	missense	probably damaging	0.99
R5651:Tanc2	UTSW	11	105,798,700 (GRCm38)	missense	probably benign	0.44
R5798:Tanc2	UTSW	11	105,921,855 (GRCm38)	small deletion	probably benign
R5889:Tanc2	UTSW	11	105,921,807 (GRCm38)	missense	probably benign	0.23
R5958:Tanc2	UTSW	11	105,840,625 (GRCm38)	missense	probably benign	0.00
R5999:Tanc2	UTSW	11	105,867,717 (GRCm38)	missense	probably damaging	1.00
R6024:Tanc2	UTSW	11	105,923,672 (GRCm38)	missense	probably damaging	1.00
R6024:Tanc2	UTSW	11	105,867,717 (GRCm38)	missense	probably damaging	1.00
R6025:Tanc2	UTSW	11	105,896,547 (GRCm38)	missense	possibly damaging	0.68
R6025:Tanc2	UTSW	11	105,867,717 (GRCm38)	missense	probably damaging	1.00
R6048:Tanc2	UTSW	11	105,867,717 (GRCm38)	missense	probably damaging	1.00
R6049:Tanc2	UTSW	11	105,867,717 (GRCm38)	missense	probably damaging	1.00
R6185:Tanc2	UTSW	11	105,913,039 (GRCm38)	missense	probably damaging	1.00
R6335:Tanc2	UTSW	11	105,857,556 (GRCm38)	missense	probably damaging	0.99
R6821:Tanc2	UTSW	11	105,886,490 (GRCm38)	splice site	probably null
R6846:Tanc2	UTSW	11	105,798,653 (GRCm38)	missense	probably benign	0.34
R6857:Tanc2	UTSW	11	105,910,288 (GRCm38)	missense	possibly damaging	0.81
R6904:Tanc2	UTSW	11	105,835,230 (GRCm38)	missense	possibly damaging	0.89
R7009:Tanc2	UTSW	11	105,840,699 (GRCm38)	missense	possibly damaging	0.47
R7017:Tanc2	UTSW	11	105,923,108 (GRCm38)	missense	probably benign
R7371:Tanc2	UTSW	11	105,798,596 (GRCm38)	missense	probably benign
R7556:Tanc2	UTSW	11	105,909,031 (GRCm38)	missense
R7630:Tanc2	UTSW	11	105,776,908 (GRCm38)	missense	probably benign	0.04
R7693:Tanc2	UTSW	11	105,923,467 (GRCm38)	missense	probably damaging	1.00
R7757:Tanc2	UTSW	11	105,776,858 (GRCm38)	missense	possibly damaging	0.81
R7807:Tanc2	UTSW	11	105,867,654 (GRCm38)	missense	probably benign	0.00
R7878:Tanc2	UTSW	11	105,913,415 (GRCm38)	missense
R7895:Tanc2	UTSW	11	105,921,825 (GRCm38)	missense	probably damaging	1.00
R7952:Tanc2	UTSW	11	105,896,597 (GRCm38)	missense	probably damaging	1.00
R8099:Tanc2	UTSW	11	105,864,007 (GRCm38)	missense	probably benign	0.17
R8117:Tanc2	UTSW	11	105,835,162 (GRCm38)	missense	probably damaging	1.00
R8133:Tanc2	UTSW	11	105,923,222 (GRCm38)	missense	probably damaging	0.97
R8422:Tanc2	UTSW	11	105,835,188 (GRCm38)	missense	probably benign	0.10
R8527:Tanc2	UTSW	11	105,917,008 (GRCm38)	missense	probably damaging	0.96
R8542:Tanc2	UTSW	11	105,917,008 (GRCm38)	missense	probably damaging	0.96
R8834:Tanc2	UTSW	11	105,917,019 (GRCm38)	missense
R8912:Tanc2	UTSW	11	105,867,327 (GRCm38)	missense	probably benign	0.01
R8927:Tanc2	UTSW	11	105,810,505 (GRCm38)	missense	probably damaging	0.99
R8928:Tanc2	UTSW	11	105,810,505 (GRCm38)	missense	probably damaging	0.99
R8968:Tanc2	UTSW	11	105,867,574 (GRCm38)	missense	possibly damaging	0.50
R9065:Tanc2	UTSW	11	105,798,692 (GRCm38)	nonsense	probably null
R9095:Tanc2	UTSW	11	105,867,278 (GRCm38)	missense	probably benign	0.00
R9108:Tanc2	UTSW	11	105,919,754 (GRCm38)	intron	probably benign
R9131:Tanc2	UTSW	11	105,798,777 (GRCm38)	missense	probably benign
R9294:Tanc2	UTSW	11	105,886,458 (GRCm38)	missense	probably damaging	0.99
R9445:Tanc2	UTSW	11	105,867,464 (GRCm38)	missense	possibly damaging	0.80
X0027:Tanc2	UTSW	11	105,835,183 (GRCm38)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- GCTCACCTGTACGCTATCAG -3'
(R):5'- AATCCTCCATGCTGACAGATG -3'

Sequencing Primer
(F):5'- TACGCTATCAGCAAGAAACAAATGTG -3'
(R):5'- ATGCTGACAGATGGCACC -3'

Posted On

2017-02-10