Mutagenetix > Incidental Mutation

Incidental Mutation 'R6904:Tanc2'

538696

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

045033-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6904 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105480812-105820130 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105726056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 407 (H407Y)

Ref Sequence

ENSEMBL: ENSMUSP00000097904 (fasta)

Gene Model

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

AlphaFold

A2A690

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100330
AA Change: H407Y

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097904
Gene: ENSMUSG00000053580
AA Change: H407Y

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: 99.9%
10x: 99.2%
20x: 97.2%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,275,516 (GRCm39)	Y406*	probably null	Het
Acadvl	T	C	11: 69,905,159 (GRCm39)	D109G	probably benign	Het
Adam24	G	A	8: 41,134,542 (GRCm39)	G670E	probably damaging	Het
Angpt1	T	C	15: 42,323,136 (GRCm39)	M378V	probably benign	Het
Ankrd33	G	A	15: 101,014,993 (GRCm39)		probably null	Het
Apol7b	G	A	15: 77,307,625 (GRCm39)	T290I	probably benign	Het
Atg4a-ps	A	G	3: 103,553,180 (GRCm39)	W54R	probably damaging	Het
B3glct	A	G	5: 149,663,069 (GRCm39)		probably null	Het
Bmp7	A	G	2: 172,714,706 (GRCm39)	S368P	probably damaging	Het
Boc	A	G	16: 44,312,154 (GRCm39)	V636A	probably damaging	Het
Cacna1i	G	A	15: 80,259,002 (GRCm39)	R1237H	probably damaging	Het
Cdcp1	T	C	9: 123,002,980 (GRCm39)	D697G	probably benign	Het
Cep85l	T	C	10: 53,225,194 (GRCm39)	T132A	probably benign	Het
Ces1b	T	A	8: 93,787,038 (GRCm39)	Y447F	probably damaging	Het
Cfhr4	T	G	1: 139,659,391 (GRCm39)	N642H	possibly damaging	Het
Cntn4	A	T	6: 106,674,544 (GRCm39)	T1015S	probably benign	Het
Eea1	T	G	10: 95,838,741 (GRCm39)		probably null	Het
Fcgbpl1	C	T	7: 27,836,638 (GRCm39)	R186C	probably damaging	Het
Hipk1	A	T	3: 103,684,828 (GRCm39)	N262K	possibly damaging	Het
Jmjd8	G	A	17: 26,048,026 (GRCm39)	R41H	possibly damaging	Het
Klhl3	T	A	13: 58,178,259 (GRCm39)	T344S	probably damaging	Het
Krt39	T	C	11: 99,410,647 (GRCm39)	D175G	probably damaging	Het
Map4k1	A	G	7: 28,686,227 (GRCm39)	Y81C	probably damaging	Het
Mpdu1	T	A	11: 69,549,411 (GRCm39)	T95S	probably benign	Het
Myl12b	A	T	17: 71,284,135 (GRCm39)	I31N	probably damaging	Het
Ndufaf5	T	A	2: 140,030,700 (GRCm39)	Y195*	probably null	Het
Or4c119	G	A	2: 88,987,157 (GRCm39)	R121C	possibly damaging	Het
Or4d5	T	C	9: 40,012,652 (GRCm39)	I45V	probably benign	Het
Or51v15-ps1	A	T	7: 103,278,790 (GRCm39)	F126I	probably benign	Het
Or52z12	T	A	7: 103,233,727 (GRCm39)	I166N	possibly damaging	Het
Or5w17	A	G	2: 87,584,223 (GRCm39)	V38A	probably benign	Het
Oxgr1	T	A	14: 120,259,431 (GRCm39)	I259F	possibly damaging	Het
Pcdhb9	T	A	18: 37,534,970 (GRCm39)	D321E	probably benign	Het
Pi4kb	G	T	3: 94,900,461 (GRCm39)	R392L	probably damaging	Het
Pramel18	G	A	4: 101,767,291 (GRCm39)	C180Y	possibly damaging	Het
Prss41	T	C	17: 24,056,622 (GRCm39)	K151R	probably benign	Het
Rev3l	T	A	10: 39,697,477 (GRCm39)	V658D	probably benign	Het
Snx4	A	G	16: 33,115,108 (GRCm39)	I430V	probably damaging	Het
Tcf25	G	A	8: 124,127,437 (GRCm39)		probably null	Het
Tsc22d1	A	T	14: 76,743,923 (GRCm39)	K24*	probably null	Het
Vmn2r30	A	G	7: 7,315,547 (GRCm39)	F762S	probably damaging	Het
Xrcc6	A	G	15: 81,913,323 (GRCm39)	T319A	probably benign	Het
Zbtb1	C	T	12: 76,432,985 (GRCm39)	R324*	probably null	Het
Zc3h7a	A	G	16: 10,963,535 (GRCm39)	Y729H	probably damaging	Het
Zfp329	C	A	7: 12,540,457 (GRCm39)		probably benign	Het
Zfp456	A	T	13: 67,514,384 (GRCm39)	S441T	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
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
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'- GAAGTGCCCAGCATTACCAC -3'
(R):5'- TGGATGTGTGGGTTAGATAAACAC -3'

Sequencing Primer
(F):5'- CAGCATTACCACGGAGTCAGTG -3'
(R):5'- ACAGAGCATTATGATCTTTCTCTGC -3'

Posted On

2018-11-06