Mutagenetix > Incidental Mutation

Incidental Mutation 'R8422:Tanc2'

653269

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

067817-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8422 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105480812-105820130 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105726014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 393 (M393V)

Ref Sequence

ENSEMBL: ENSMUSP00000097904 (fasta)

Gene Model

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

AlphaFold

A2A690

Predicted Effect

probably benign
Transcript: ENSMUST00000100330
AA Change: M393V

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097904
Gene: ENSMUSG00000053580
AA Change: M393V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,384,254 (GRCm39)	S570R	possibly damaging	Het
4921517D22Rik	T	C	13: 59,839,443 (GRCm39)	M1V	probably null	Het
4921524J17Rik	T	G	8: 86,138,918 (GRCm39)	K57T	possibly damaging	Het
4930596D02Rik	G	T	14: 35,532,009 (GRCm39)	Q189K	probably benign	Het
Anapc1	T	C	2: 128,517,757 (GRCm39)	T296A	probably benign	Het
Aqp7	T	A	4: 41,035,622 (GRCm39)	M78L	probably benign	Het
C1qtnf5	C	A	9: 44,019,961 (GRCm39)	A195E	possibly damaging	Het
Calhm2	T	C	19: 47,121,579 (GRCm39)	I197V	probably benign	Het
Ccdc186	G	A	19: 56,801,617 (GRCm39)	L167F	probably benign	Het
Ccr3	T	C	9: 123,828,799 (GRCm39)	Y45H	probably damaging	Het
Cct3	G	C	3: 88,208,126 (GRCm39)	R38P	probably damaging	Het
Clstn2	T	C	9: 97,340,239 (GRCm39)	D711G	probably benign	Het
Dab2ip	T	A	2: 35,597,767 (GRCm39)	I157N	probably damaging	Het
Dchs2	T	C	3: 83,232,570 (GRCm39)	V2185A	probably benign	Het
Dis3l2	A	G	1: 86,782,099 (GRCm39)	T219A	probably benign	Het
F2rl3	G	T	8: 73,489,813 (GRCm39)	V347L	probably benign	Het
Fastkd1	A	G	2: 69,532,778 (GRCm39)	S530P	probably damaging	Het
Fgfr3	T	A	5: 33,892,249 (GRCm39)	Y689*	probably null	Het
Gm10521	A	G	1: 171,724,026 (GRCm39)	I112M	unknown	Het
Gm9736	C	A	10: 77,586,714 (GRCm39)	V159F	unknown	Het
Hba-x	A	T	11: 32,227,736 (GRCm39)	H88L	probably benign	Het
Il12rb2	A	T	6: 67,337,800 (GRCm39)	V27E	probably benign	Het
Imp4	G	T	1: 34,482,997 (GRCm39)	G196V	probably damaging	Het
Itga11	A	C	9: 62,674,960 (GRCm39)	I831L	probably benign	Het
Macf1	C	T	4: 123,303,279 (GRCm39)	V408I	possibly damaging	Het
Nedd4	T	A	9: 72,649,964 (GRCm39)	D771E	probably damaging	Het
Noc3l	T	C	19: 38,795,547 (GRCm39)	Y413C	probably benign	Het
Npas3	C	A	12: 54,115,292 (GRCm39)	T738K	probably benign	Het
Ntrk2	A	T	13: 59,133,715 (GRCm39)	D498V	probably damaging	Het
Nyap1	T	C	5: 137,734,083 (GRCm39)	T317A	probably benign	Het
Or10g7	T	C	9: 39,905,850 (GRCm39)	L248P	probably damaging	Het
Or14a256	T	A	7: 86,265,466 (GRCm39)	H129L	probably benign	Het
Or4c107	T	C	2: 88,789,341 (GRCm39)	M177T	probably benign	Het
Or5d47	T	A	2: 87,804,143 (GRCm39)	I289L	probably benign	Het
Pcdhb20	A	T	18: 37,637,849 (GRCm39)	D125V	probably damaging	Het
Phc3	G	A	3: 30,984,039 (GRCm39)	Q692*	probably null	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Ppp1r12a	T	A	10: 108,077,042 (GRCm39)	H339Q	probably benign	Het
Ppp1r3a	G	A	6: 14,718,434 (GRCm39)	Q827*	probably null	Het
Ptpra	T	A	2: 130,374,091 (GRCm39)	I265N	possibly damaging	Het
Rabggta	G	T	14: 55,955,915 (GRCm39)	H447Q	probably benign	Het
Ralgps1	T	C	2: 33,062,442 (GRCm39)	D277G	possibly damaging	Het
Riok3	A	T	18: 12,269,869 (GRCm39)	E100V	probably null	Het
Rtcb	C	T	10: 85,779,168 (GRCm39)	V362M	probably benign	Het
Scd2	G	T	19: 44,289,743 (GRCm39)	C246F	probably benign	Het
Slco6c1	T	C	1: 97,053,508 (GRCm39)	E131G	probably damaging	Het
Tas2r136	A	T	6: 132,754,290 (GRCm39)	I279N	probably damaging	Het
Tbx3	G	T	5: 119,818,581 (GRCm39)	K405N	possibly damaging	Het
Thumpd2	A	T	17: 81,334,373 (GRCm39)	V405D	probably damaging	Het
Tlr12	A	G	4: 128,510,427 (GRCm39)	S608P	probably damaging	Het
Wfs1	T	C	5: 37,131,219 (GRCm39)	K165E	probably benign	Het
Zfp810	C	A	9: 22,194,518 (GRCm39)	E57*	probably null	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
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
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'- GACCTCCAGACATCTCCTTGAAG -3'
(R):5'- TGCACCAAGGTCCTCACATG -3'

Sequencing Primer
(F):5'- GAAGCCCCTACTCTTCGAAGTG -3'
(R):5'- AAGGTCCTCACATGGTGCAG -3'

Posted On

2020-10-20