Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02543:Tanc1'

298297

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tanc1

Ensembl Gene

ENSMUSG00000035168

Gene Name

tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1

Synonyms

1200003E16Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02543

Quality Score

Status

Chromosome

Chromosomal Location

59442386-59676493 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 59663602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 1120 (G1120C)

Ref Sequence

ENSEMBL: ENSMUSP00000123345 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037526] [ENSMUST00000112568] [ENSMUST00000139863]

AlphaFold

Q0VGY8

Predicted Effect

probably damaging
Transcript: ENSMUST00000037526
AA Change: G1120C

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

SMART Domains

Protein: ENSMUSP00000036003
Gene: ENSMUSG00000035168
AA Change: G1120C

Domain	Start	End	E-Value	Type
low complexity region	7	22	N/A	INTRINSIC
low complexity region	60	78	N/A	INTRINSIC
low complexity region	171	191	N/A	INTRINSIC
low complexity region	229	240	N/A	INTRINSIC
low complexity region	439	451	N/A	INTRINSIC
low complexity region	455	475	N/A	INTRINSIC
ANK	893	925	1.06e3	SMART
ANK	929	960	2.43e3	SMART
ANK	964	993	1.12e-3	SMART
Blast:ANK	997	1028	7e-12	BLAST
ANK	1037	1066	1.78e3	SMART
ANK	1075	1104	2.34e-1	SMART
ANK	1108	1137	3.71e-4	SMART
ANK	1141	1170	1.51e-4	SMART
ANK	1174	1203	4.89e-4	SMART
ANK	1207	1236	3.01e-4	SMART
ANK	1240	1269	1.99e2	SMART
TPR	1286	1319	7.49e1	SMART
TPR	1333	1366	2.35e-1	SMART
TPR	1367	1400	6.29e-2	SMART
low complexity region	1416	1432	N/A	INTRINSIC
low complexity region	1454	1483	N/A	INTRINSIC
low complexity region	1656	1686	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112568
AA Change: G1113C

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

SMART Domains

Protein: ENSMUSP00000108187
Gene: ENSMUSG00000035168
AA Change: G1113C

Domain	Start	End	E-Value	Type
low complexity region	7	22	N/A	INTRINSIC
low complexity region	60	78	N/A	INTRINSIC
low complexity region	171	191	N/A	INTRINSIC
low complexity region	229	240	N/A	INTRINSIC
low complexity region	432	444	N/A	INTRINSIC
low complexity region	448	468	N/A	INTRINSIC
ANK	886	918	1.06e3	SMART
ANK	922	953	2.43e3	SMART
ANK	957	986	1.12e-3	SMART
Blast:ANK	990	1021	7e-12	BLAST
ANK	1030	1059	1.78e3	SMART
ANK	1068	1097	2.34e-1	SMART
ANK	1101	1130	3.71e-4	SMART
ANK	1134	1163	1.51e-4	SMART
ANK	1167	1196	4.89e-4	SMART
ANK	1200	1229	3.01e-4	SMART
ANK	1233	1262	1.99e2	SMART
TPR	1279	1312	7.49e1	SMART
TPR	1326	1359	2.35e-1	SMART
TPR	1360	1393	6.29e-2	SMART
low complexity region	1409	1425	N/A	INTRINSIC
low complexity region	1447	1476	N/A	INTRINSIC
low complexity region	1649	1679	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000139863
AA Change: G1120C

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

SMART Domains

Protein: ENSMUSP00000123345
Gene: ENSMUSG00000035168
AA Change: G1120C

Domain	Start	End	E-Value	Type
low complexity region	7	22	N/A	INTRINSIC
low complexity region	60	78	N/A	INTRINSIC
low complexity region	171	191	N/A	INTRINSIC
low complexity region	229	240	N/A	INTRINSIC
low complexity region	439	451	N/A	INTRINSIC
low complexity region	455	475	N/A	INTRINSIC
ANK	893	925	1.06e3	SMART
ANK	929	960	2.43e3	SMART
ANK	964	993	1.12e-3	SMART
Blast:ANK	997	1028	7e-12	BLAST
ANK	1037	1066	1.78e3	SMART
ANK	1075	1104	2.34e-1	SMART
ANK	1108	1137	3.71e-4	SMART
ANK	1141	1170	1.51e-4	SMART
ANK	1174	1203	4.89e-4	SMART
ANK	1207	1236	3.01e-4	SMART
ANK	1240	1269	1.99e2	SMART
TPR	1286	1319	7.49e1	SMART
TPR	1333	1366	2.35e-1	SMART
TPR	1367	1400	6.29e-2	SMART
low complexity region	1416	1432	N/A	INTRINSIC
low complexity region	1454	1483	N/A	INTRINSIC
low complexity region	1656	1686	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap vector exhibit decreased spine density in the CA3 region and impaired spatial memory. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	G	T	19: 31,895,495 (GRCm39)	A193S	probably damaging	Het
Adcy4	T	C	14: 56,006,627 (GRCm39)	T1069A	probably benign	Het
Arg2	A	T	12: 79,197,533 (GRCm39)	I184F	probably benign	Het
Asb18	G	A	1: 89,942,113 (GRCm39)	P63S	probably damaging	Het
Cep85	T	C	4: 133,883,634 (GRCm39)	H85R	possibly damaging	Het
Chfr	A	G	5: 110,291,413 (GRCm39)		probably null	Het
Cog2	A	G	8: 125,256,698 (GRCm39)	N148S	probably benign	Het
Csgalnact1	T	C	8: 68,913,720 (GRCm39)	T162A	probably damaging	Het
Ddi1	C	T	9: 6,266,183 (GRCm39)	G62D	possibly damaging	Het
Dhx33	T	C	11: 70,878,066 (GRCm39)	Y435C	probably damaging	Het
Dsc3	A	T	18: 20,098,885 (GRCm39)	C765S	probably benign	Het
Egfem1	T	A	3: 29,722,529 (GRCm39)	D362E	probably benign	Het
Gm28040	A	T	1: 133,247,069 (GRCm39)	I26F	possibly damaging	Het
Gm28778	T	C	1: 53,338,202 (GRCm39)	M22T	probably benign	Het
Hdac1-ps	A	G	17: 78,799,303 (GRCm39)	E98G	probably damaging	Het
Hipk2	A	G	6: 38,680,436 (GRCm39)	I968T	possibly damaging	Het
Hlx	T	G	1: 184,462,948 (GRCm39)	S235R	probably damaging	Het
Jag1	T	C	2: 136,933,867 (GRCm39)		probably benign	Het
Kdr	A	G	5: 76,125,607 (GRCm39)		probably benign	Het
Klhl3	T	C	13: 58,166,685 (GRCm39)	E435G	probably damaging	Het
L3mbtl4	T	C	17: 68,768,607 (GRCm39)		probably benign	Het
Large1	T	A	8: 73,775,042 (GRCm39)	M223L	probably benign	Het
Lrp1b	T	C	2: 40,760,413 (GRCm39)	K2838E	possibly damaging	Het
Ncan	T	C	8: 70,561,221 (GRCm39)	D582G	probably benign	Het
Nedd9	T	C	13: 41,470,211 (GRCm39)	D314G	probably damaging	Het
Nip7	T	C	8: 107,784,825 (GRCm39)		probably benign	Het
Or10j27	T	G	1: 172,957,901 (GRCm39)	K294N	probably damaging	Het
Or52ae9	A	T	7: 103,389,710 (GRCm39)	C246S	possibly damaging	Het
Or7a42	C	A	10: 78,791,773 (GRCm39)	H245N	probably damaging	Het
P3h1	T	C	4: 119,095,053 (GRCm39)		probably benign	Het
Pcp4l1	C	T	1: 171,003,133 (GRCm39)		probably benign	Het
Plekhm2	C	T	4: 141,369,330 (GRCm39)	G118D	probably benign	Het
Prkg1	T	C	19: 30,602,134 (GRCm39)	D374G	possibly damaging	Het
Ptcd1	A	G	5: 145,091,497 (GRCm39)	L534P	possibly damaging	Het
Rnf123	A	G	9: 107,943,547 (GRCm39)	S563P	probably damaging	Het
Scart1	A	G	7: 139,800,491 (GRCm39)	M91V	probably benign	Het
Sdk2	A	T	11: 113,759,747 (GRCm39)	I418N	possibly damaging	Het
Slc26a4	A	G	12: 31,578,688 (GRCm39)	I655T	possibly damaging	Het
Syne1	T	C	10: 4,993,618 (GRCm39)	K524R	probably damaging	Het
Tbc1d22a	C	T	15: 86,123,372 (GRCm39)	A135V	probably benign	Het
Tenm3	A	C	8: 48,751,991 (GRCm39)	W942G	probably damaging	Het
Thsd7b	G	A	1: 130,092,840 (GRCm39)	V1247I	probably benign	Het
Treml1	A	G	17: 48,667,459 (GRCm39)	T115A	possibly damaging	Het
Ttn	T	C	2: 76,540,306 (GRCm39)	T34227A	probably benign	Het
Ugt2b38	T	A	5: 87,571,342 (GRCm39)	D230V	probably benign	Het
Vmn1r203	G	A	13: 22,709,074 (GRCm39)	G285D	probably damaging	Het
Vmn2r76	A	G	7: 85,879,356 (GRCm39)	S315P	probably benign	Het
Vmn2r98	T	G	17: 19,286,083 (GRCm39)	S194A	probably benign	Het
Wdr1	G	A	5: 38,703,165 (GRCm39)	S137F	probably damaging	Het
Wnt7b	C	T	15: 85,443,097 (GRCm39)		probably benign	Het
Zfp668	A	T	7: 127,467,494 (GRCm39)	C27*	probably null	Het

Other mutations in Tanc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Tanc1	APN	2	59,621,185 (GRCm39)	missense	possibly damaging	0.84
IGL00484:Tanc1	APN	2	59,623,520 (GRCm39)	missense	probably benign	0.00
IGL00688:Tanc1	APN	2	59,645,735 (GRCm39)	missense	probably damaging	1.00
IGL00765:Tanc1	APN	2	59,636,645 (GRCm39)	missense	probably benign	0.15
IGL01576:Tanc1	APN	2	59,628,079 (GRCm39)	missense	probably damaging	1.00
IGL01590:Tanc1	APN	2	59,615,817 (GRCm39)	missense	probably benign
IGL02016:Tanc1	APN	2	59,673,934 (GRCm39)	missense	probably benign	0.00
IGL02373:Tanc1	APN	2	59,626,372 (GRCm39)	critical splice donor site	probably null
IGL02539:Tanc1	APN	2	59,663,602 (GRCm39)	missense	probably damaging	1.00
IGL02540:Tanc1	APN	2	59,663,602 (GRCm39)	missense	probably damaging	1.00
IGL02541:Tanc1	APN	2	59,663,602 (GRCm39)	missense	probably damaging	1.00
IGL02559:Tanc1	APN	2	59,554,998 (GRCm39)	splice site	probably benign
IGL02626:Tanc1	APN	2	59,630,216 (GRCm39)	missense	probably damaging	1.00
IGL02669:Tanc1	APN	2	59,630,330 (GRCm39)	missense	probably damaging	1.00
IGL02902:Tanc1	APN	2	59,623,431 (GRCm39)	splice site	probably benign
Oreja	UTSW	2	59,622,148 (GRCm39)	synonymous	silent
R0178:Tanc1	UTSW	2	59,665,791 (GRCm39)	nonsense	probably null
R0347:Tanc1	UTSW	2	59,673,335 (GRCm39)	missense	probably benign
R0570:Tanc1	UTSW	2	59,626,382 (GRCm39)	splice site	probably benign
R0660:Tanc1	UTSW	2	59,674,228 (GRCm39)	nonsense	probably null
R0664:Tanc1	UTSW	2	59,674,228 (GRCm39)	nonsense	probably null
R0898:Tanc1	UTSW	2	59,621,132 (GRCm39)	missense	probably damaging	1.00
R1333:Tanc1	UTSW	2	59,673,835 (GRCm39)	missense	probably benign
R1575:Tanc1	UTSW	2	59,621,995 (GRCm39)	missense	probably damaging	1.00
R1608:Tanc1	UTSW	2	59,628,038 (GRCm39)	missense	possibly damaging	0.80
R1616:Tanc1	UTSW	2	59,615,731 (GRCm39)	missense	probably damaging	1.00
R1703:Tanc1	UTSW	2	59,673,365 (GRCm39)	missense	probably benign	0.02
R1727:Tanc1	UTSW	2	59,621,153 (GRCm39)	missense	probably damaging	1.00
R1809:Tanc1	UTSW	2	59,630,441 (GRCm39)	missense	probably damaging	1.00
R1812:Tanc1	UTSW	2	59,622,023 (GRCm39)	missense	probably damaging	1.00
R1925:Tanc1	UTSW	2	59,555,095 (GRCm39)	missense	possibly damaging	0.48
R1951:Tanc1	UTSW	2	59,622,156 (GRCm39)	missense	possibly damaging	0.92
R2174:Tanc1	UTSW	2	59,674,177 (GRCm39)	missense	possibly damaging	0.72
R2228:Tanc1	UTSW	2	59,555,068 (GRCm39)	missense	probably benign	0.04
R2267:Tanc1	UTSW	2	59,667,563 (GRCm39)	critical splice donor site	probably null
R4191:Tanc1	UTSW	2	59,669,357 (GRCm39)	missense	probably damaging	1.00
R4476:Tanc1	UTSW	2	59,672,340 (GRCm39)	splice site	probably null
R4632:Tanc1	UTSW	2	59,626,179 (GRCm39)	missense	probably damaging	1.00
R4825:Tanc1	UTSW	2	59,529,766 (GRCm39)	missense	probably damaging	1.00
R4982:Tanc1	UTSW	2	59,630,287 (GRCm39)	missense	probably damaging	1.00
R5338:Tanc1	UTSW	2	59,626,178 (GRCm39)	missense	probably damaging	1.00
R5657:Tanc1	UTSW	2	59,665,051 (GRCm39)	splice site	probably null
R5672:Tanc1	UTSW	2	59,602,697 (GRCm39)	missense	possibly damaging	0.81
R5703:Tanc1	UTSW	2	59,626,341 (GRCm39)	missense	probably damaging	0.98
R5707:Tanc1	UTSW	2	59,588,874 (GRCm39)	missense	probably benign
R5778:Tanc1	UTSW	2	59,529,691 (GRCm39)	critical splice acceptor site	probably null
R5795:Tanc1	UTSW	2	59,637,926 (GRCm39)	missense	possibly damaging	0.62
R5831:Tanc1	UTSW	2	59,615,685 (GRCm39)	missense	possibly damaging	0.89
R5849:Tanc1	UTSW	2	59,630,248 (GRCm39)	missense	probably benign	0.00
R5912:Tanc1	UTSW	2	59,622,030 (GRCm39)	missense	possibly damaging	0.92
R5944:Tanc1	UTSW	2	59,667,564 (GRCm39)	critical splice donor site	probably null
R6057:Tanc1	UTSW	2	59,647,837 (GRCm39)	missense	possibly damaging	0.46
R6142:Tanc1	UTSW	2	59,663,566 (GRCm39)	nonsense	probably null
R6179:Tanc1	UTSW	2	59,673,320 (GRCm39)	missense	probably benign	0.42
R6185:Tanc1	UTSW	2	59,621,929 (GRCm39)	splice site	probably null
R6192:Tanc1	UTSW	2	59,669,305 (GRCm39)	splice site	probably null
R6196:Tanc1	UTSW	2	59,674,366 (GRCm39)	missense	possibly damaging	0.94
R6197:Tanc1	UTSW	2	59,674,366 (GRCm39)	missense	possibly damaging	0.94
R6230:Tanc1	UTSW	2	59,672,375 (GRCm39)	missense	probably damaging	1.00
R6275:Tanc1	UTSW	2	59,673,854 (GRCm39)	missense	probably benign	0.22
R6415:Tanc1	UTSW	2	59,667,458 (GRCm39)	missense	probably benign	0.02
R6480:Tanc1	UTSW	2	59,637,986 (GRCm39)	missense	probably damaging	1.00
R6578:Tanc1	UTSW	2	59,626,298 (GRCm39)	missense	probably damaging	1.00
R6786:Tanc1	UTSW	2	59,622,150 (GRCm39)	missense	probably benign	0.00
R7006:Tanc1	UTSW	2	59,626,188 (GRCm39)	missense	probably damaging	1.00
R7133:Tanc1	UTSW	2	59,627,953 (GRCm39)	missense	probably benign	0.16
R7381:Tanc1	UTSW	2	59,615,670 (GRCm39)	missense	probably damaging	1.00
R7422:Tanc1	UTSW	2	59,636,688 (GRCm39)	missense	probably benign	0.02
R8392:Tanc1	UTSW	2	59,636,651 (GRCm39)	missense	probably damaging	0.99
R8692:Tanc1	UTSW	2	59,673,989 (GRCm39)	missense	probably benign	0.01
R8730:Tanc1	UTSW	2	59,601,590 (GRCm39)	missense	probably benign	0.00
R8731:Tanc1	UTSW	2	59,673,596 (GRCm39)	missense	probably benign	0.01
R8813:Tanc1	UTSW	2	59,630,265 (GRCm39)	missense	probably damaging	1.00
R8815:Tanc1	UTSW	2	59,621,185 (GRCm39)	missense	possibly damaging	0.84
R8933:Tanc1	UTSW	2	59,615,800 (GRCm39)	missense	possibly damaging	0.92
R9015:Tanc1	UTSW	2	59,622,224 (GRCm39)	missense	probably benign
R9042:Tanc1	UTSW	2	59,673,766 (GRCm39)	missense	probably benign	0.00
R9154:Tanc1	UTSW	2	59,630,132 (GRCm39)	missense	probably damaging	1.00
R9269:Tanc1	UTSW	2	59,630,432 (GRCm39)	missense	probably damaging	1.00
R9283:Tanc1	UTSW	2	59,630,174 (GRCm39)	missense	probably damaging	0.99
R9380:Tanc1	UTSW	2	59,665,796 (GRCm39)	missense	probably damaging	1.00
R9422:Tanc1	UTSW	2	59,637,933 (GRCm39)	missense	probably benign	0.08
R9428:Tanc1	UTSW	2	59,601,548 (GRCm39)	missense	probably damaging	1.00
R9694:Tanc1	UTSW	2	59,626,196 (GRCm39)	missense	probably damaging	1.00
RF028:Tanc1	UTSW	2	59,673,613 (GRCm39)	small deletion	probably benign
RF049:Tanc1	UTSW	2	59,673,613 (GRCm39)	small deletion	probably benign
X0063:Tanc1	UTSW	2	59,674,324 (GRCm39)	nonsense	probably null
X0064:Tanc1	UTSW	2	59,674,456 (GRCm39)	missense	probably damaging	1.00
Z1176:Tanc1	UTSW	2	59,602,873 (GRCm39)	missense	possibly damaging	0.93
Z1177:Tanc1	UTSW	2	59,622,174 (GRCm39)	missense	probably damaging	1.00
Z1177:Tanc1	UTSW	2	59,621,231 (GRCm39)	missense	probably benign

Posted On

2015-04-16