Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00501:Tanc2'

6012

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00501

Quality Score

Status

Chromosome

Chromosomal Location

105480812-105820130 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105814046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1830 (V1830A)

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

probably benign
Transcript: ENSMUST00000100330
AA Change: V1830A

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097904
Gene: ENSMUSG00000053580
AA Change: V1830A

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: V972A

SMART Domains

Protein: ENSMUSP00000123674
Gene: ENSMUSG00000053580
AA Change: V972A

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

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	T	C	9: 53,493,895 (GRCm39)	I409V	probably damaging	Het
Adck1	A	G	12: 88,335,192 (GRCm39)	N26S	probably benign	Het
Adgrf5	G	A	17: 43,760,806 (GRCm39)	A834T	possibly damaging	Het
Agpat5	T	C	8: 18,926,148 (GRCm39)		probably null	Het
Ano8	A	C	8: 71,931,793 (GRCm39)		probably null	Het
Baz2a	T	A	10: 127,950,494 (GRCm39)	M476K	probably benign	Het
Cgas	G	A	9: 78,342,869 (GRCm39)	A311V	probably damaging	Het
Col16a1	A	G	4: 129,988,345 (GRCm39)		probably null	Het
Cyp3a13	A	T	5: 137,910,195 (GRCm39)	I113N	probably benign	Het
Dstn	A	G	2: 143,784,094 (GRCm39)	T146A	probably benign	Het
Eif2ak1	A	T	5: 143,826,288 (GRCm39)	M434L	probably damaging	Het
Gba2	G	A	4: 43,568,477 (GRCm39)	A663V	probably damaging	Het
Gja10	T	C	4: 32,601,230 (GRCm39)	T385A	possibly damaging	Het
Gm42878	A	C	5: 121,671,406 (GRCm39)	I209R	probably damaging	Het
Grk1	T	A	8: 13,457,835 (GRCm39)	V245E	probably damaging	Het
H2az1	T	C	3: 137,571,357 (GRCm39)	V53A	probably damaging	Het
Hycc1	A	G	5: 24,190,843 (GRCm39)		probably benign	Het
Kctd16	G	A	18: 40,390,440 (GRCm39)		probably benign	Het
Klhdc8b	C	T	9: 108,326,105 (GRCm39)	R263H	probably benign	Het
Lcn8	T	C	2: 25,545,119 (GRCm39)		probably benign	Het
Ldlr	T	C	9: 21,646,657 (GRCm39)		probably null	Het
Lrrc40	T	C	3: 157,766,919 (GRCm39)	F458S	probably damaging	Het
Lypla1	T	A	1: 4,898,810 (GRCm39)	H35Q	probably damaging	Het
Mink1	C	T	11: 70,494,638 (GRCm39)	T273I	probably damaging	Het
Neb	A	G	2: 52,185,356 (GRCm39)	F959L	probably benign	Het
Nedd4l	A	T	18: 65,341,163 (GRCm39)	D704V	probably damaging	Het
Peak1	C	T	9: 56,134,610 (GRCm39)	E1274K	probably damaging	Het
Prkcz	G	T	4: 155,378,858 (GRCm39)		probably benign	Het
Rabgap1	T	A	2: 37,359,558 (GRCm39)	N40K	probably damaging	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Spink5	A	G	18: 44,110,806 (GRCm39)	T126A	probably damaging	Het
Tmem104	T	C	11: 115,134,763 (GRCm39)	I433T	probably damaging	Het
Trim10	G	A	17: 37,187,939 (GRCm39)	R385K	probably benign	Het
Zbtb44	A	G	9: 30,965,606 (GRCm39)	I339V	possibly damaging	Het

Other mutations in Tanc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-04-20