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

59612042-59846149 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 59833258 bp (GRCm38)

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: 31,918,095	A193S	probably damaging	Het
Adcy4	T	C	14: 55,769,170	T1069A	probably benign	Het
Arg2	A	T	12: 79,150,759	I184F	probably benign	Het
Asb18	G	A	1: 90,014,391	P63S	probably damaging	Het
Cd163l1	A	G	7: 140,220,578	M91V	probably benign	Het
Cep85	T	C	4: 134,156,323	H85R	possibly damaging	Het
Chfr	A	G	5: 110,143,547		probably null	Het
Cog2	A	G	8: 124,529,959	N148S	probably benign	Het
Csgalnact1	T	C	8: 68,461,068	T162A	probably damaging	Het
Ddi1	C	T	9: 6,266,183	G62D	possibly damaging	Het
Dhx33	T	C	11: 70,987,240	Y435C	probably damaging	Het
Dsc3	A	T	18: 19,965,828	C765S	probably benign	Het
Egfem1	T	A	3: 29,668,380	D362E	probably benign	Het
Gm10093	A	G	17: 78,491,874	E98G	probably damaging	Het
Gm28040	A	T	1: 133,319,331	I26F	possibly damaging	Het
Gm28778	T	C	1: 53,299,043	M22T	probably benign	Het
Hipk2	A	G	6: 38,703,501	I968T	possibly damaging	Het
Hlx	T	G	1: 184,730,751	S235R	probably damaging	Het
Jag1	T	C	2: 137,091,947		probably benign	Het
Kdr	A	G	5: 75,964,947		probably benign	Het
Klhl3	T	C	13: 58,018,871	E435G	probably damaging	Het
L3mbtl4	T	C	17: 68,461,612		probably benign	Het
Large1	T	A	8: 73,048,414	M223L	probably benign	Het
Lrp1b	T	C	2: 40,870,401	K2838E	possibly damaging	Het
Ncan	T	C	8: 70,108,571	D582G	probably benign	Het
Nedd9	T	C	13: 41,316,735	D314G	probably damaging	Het
Nip7	T	C	8: 107,058,193		probably benign	Het
Olfr1408	T	G	1: 173,130,334	K294N	probably damaging	Het
Olfr629	A	T	7: 103,740,503	C246S	possibly damaging	Het
Olfr8	C	A	10: 78,955,939	H245N	probably damaging	Het
P3h1	T	C	4: 119,237,856		probably benign	Het
Pcp4l1	C	T	1: 171,175,564		probably benign	Het
Plekhm2	C	T	4: 141,642,019	G118D	probably benign	Het
Prkg1	T	C	19: 30,624,734	D374G	possibly damaging	Het
Ptcd1	A	G	5: 145,154,687	L534P	possibly damaging	Het
Rnf123	A	G	9: 108,066,348	S563P	probably damaging	Het
Sdk2	A	T	11: 113,868,921	I418N	possibly damaging	Het
Slc26a4	A	G	12: 31,528,689	I655T	possibly damaging	Het
Syne1	T	C	10: 5,043,618	K524R	probably damaging	Het
Tbc1d22a	C	T	15: 86,239,171	A135V	probably benign	Het
Tenm3	A	C	8: 48,298,956	W942G	probably damaging	Het
Thsd7b	G	A	1: 130,165,103	V1247I	probably benign	Het
Treml1	A	G	17: 48,360,431	T115A	possibly damaging	Het
Ttn	T	C	2: 76,709,962	T34227A	probably benign	Het
Ugt2b38	T	A	5: 87,423,483	D230V	probably benign	Het
Vmn1r203	G	A	13: 22,524,904	G285D	probably damaging	Het
Vmn2r76	A	G	7: 86,230,148	S315P	probably benign	Het
Vmn2r98	T	G	17: 19,065,821	S194A	probably benign	Het
Wdr1	G	A	5: 38,545,822	S137F	probably damaging	Het
Wnt7b	C	T	15: 85,558,896		probably benign	Het
Zfp668	A	T	7: 127,868,322	C27*	probably null	Het

Other mutations in Tanc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Tanc1	APN	2	59790841	missense	possibly damaging	0.84
IGL00484:Tanc1	APN	2	59793176	missense	probably benign	0.00
IGL00688:Tanc1	APN	2	59815391	missense	probably damaging	1.00
IGL00765:Tanc1	APN	2	59806301	missense	probably benign	0.15
IGL01576:Tanc1	APN	2	59797735	missense	probably damaging	1.00
IGL01590:Tanc1	APN	2	59785473	missense	probably benign
IGL02016:Tanc1	APN	2	59843590	missense	probably benign	0.00
IGL02373:Tanc1	APN	2	59796028	critical splice donor site	probably null
IGL02539:Tanc1	APN	2	59833258	missense	probably damaging	1.00
IGL02540:Tanc1	APN	2	59833258	missense	probably damaging	1.00
IGL02541:Tanc1	APN	2	59833258	missense	probably damaging	1.00
IGL02559:Tanc1	APN	2	59724654	splice site	probably benign
IGL02626:Tanc1	APN	2	59799872	missense	probably damaging	1.00
IGL02669:Tanc1	APN	2	59799986	missense	probably damaging	1.00
IGL02902:Tanc1	APN	2	59793087	splice site	probably benign
Oreja	UTSW	2	59791804	synonymous	silent
R0178:Tanc1	UTSW	2	59835447	nonsense	probably null
R0347:Tanc1	UTSW	2	59842991	missense	probably benign
R0570:Tanc1	UTSW	2	59796038	splice site	probably benign
R0660:Tanc1	UTSW	2	59843884	nonsense	probably null
R0664:Tanc1	UTSW	2	59843884	nonsense	probably null
R0898:Tanc1	UTSW	2	59790788	missense	probably damaging	1.00
R1333:Tanc1	UTSW	2	59843491	missense	probably benign
R1575:Tanc1	UTSW	2	59791651	missense	probably damaging	1.00
R1608:Tanc1	UTSW	2	59797694	missense	possibly damaging	0.80
R1616:Tanc1	UTSW	2	59785387	missense	probably damaging	1.00
R1703:Tanc1	UTSW	2	59843021	missense	probably benign	0.02
R1727:Tanc1	UTSW	2	59790809	missense	probably damaging	1.00
R1809:Tanc1	UTSW	2	59800097	missense	probably damaging	1.00
R1812:Tanc1	UTSW	2	59791679	missense	probably damaging	1.00
R1925:Tanc1	UTSW	2	59724751	missense	possibly damaging	0.48
R1951:Tanc1	UTSW	2	59791812	missense	possibly damaging	0.92
R2174:Tanc1	UTSW	2	59843833	missense	possibly damaging	0.72
R2228:Tanc1	UTSW	2	59724724	missense	probably benign	0.04
R2267:Tanc1	UTSW	2	59837219	critical splice donor site	probably null
R4191:Tanc1	UTSW	2	59839013	missense	probably damaging	1.00
R4476:Tanc1	UTSW	2	59841996	splice site	probably null
R4632:Tanc1	UTSW	2	59795835	missense	probably damaging	1.00
R4825:Tanc1	UTSW	2	59699422	missense	probably damaging	1.00
R4982:Tanc1	UTSW	2	59799943	missense	probably damaging	1.00
R5338:Tanc1	UTSW	2	59795834	missense	probably damaging	1.00
R5657:Tanc1	UTSW	2	59834707	splice site	probably null
R5672:Tanc1	UTSW	2	59772353	missense	possibly damaging	0.81
R5703:Tanc1	UTSW	2	59795997	missense	probably damaging	0.98
R5707:Tanc1	UTSW	2	59758530	missense	probably benign
R5778:Tanc1	UTSW	2	59699347	critical splice acceptor site	probably null
R5795:Tanc1	UTSW	2	59807582	missense	possibly damaging	0.62
R5831:Tanc1	UTSW	2	59785341	missense	possibly damaging	0.89
R5849:Tanc1	UTSW	2	59799904	missense	probably benign	0.00
R5912:Tanc1	UTSW	2	59791686	missense	possibly damaging	0.92
R5944:Tanc1	UTSW	2	59837220	critical splice donor site	probably null
R6057:Tanc1	UTSW	2	59817493	missense	possibly damaging	0.46
R6142:Tanc1	UTSW	2	59833222	nonsense	probably null
R6179:Tanc1	UTSW	2	59842976	missense	probably benign	0.42
R6185:Tanc1	UTSW	2	59791585	splice site	probably null
R6192:Tanc1	UTSW	2	59838961	splice site	probably null
R6196:Tanc1	UTSW	2	59844022	missense	possibly damaging	0.94
R6197:Tanc1	UTSW	2	59844022	missense	possibly damaging	0.94
R6230:Tanc1	UTSW	2	59842031	missense	probably damaging	1.00
R6275:Tanc1	UTSW	2	59843510	missense	probably benign	0.22
R6415:Tanc1	UTSW	2	59837114	missense	probably benign	0.02
R6480:Tanc1	UTSW	2	59807642	missense	probably damaging	1.00
R6578:Tanc1	UTSW	2	59795954	missense	probably damaging	1.00
R6786:Tanc1	UTSW	2	59791806	missense	probably benign	0.00
R7006:Tanc1	UTSW	2	59795844	missense	probably damaging	1.00
R7133:Tanc1	UTSW	2	59797609	missense	probably benign	0.16
R7381:Tanc1	UTSW	2	59785326	missense	probably damaging	1.00
R7422:Tanc1	UTSW	2	59806344	missense	probably benign	0.02
R8392:Tanc1	UTSW	2	59806307	missense	probably damaging	0.99
R8692:Tanc1	UTSW	2	59843645	missense	probably benign	0.01
R8730:Tanc1	UTSW	2	59771246	missense	probably benign	0.00
R8731:Tanc1	UTSW	2	59843252	missense	probably benign	0.01
R8813:Tanc1	UTSW	2	59799921	missense	probably damaging	1.00
R8815:Tanc1	UTSW	2	59790841	missense	possibly damaging	0.84
R8933:Tanc1	UTSW	2	59785456	missense	possibly damaging	0.92
R9015:Tanc1	UTSW	2	59791880	missense	probably benign
R9042:Tanc1	UTSW	2	59843422	missense	probably benign	0.00
R9154:Tanc1	UTSW	2	59799788	missense	probably damaging	1.00
R9269:Tanc1	UTSW	2	59800088	missense	probably damaging	1.00
R9283:Tanc1	UTSW	2	59799830	missense	probably damaging	0.99
R9380:Tanc1	UTSW	2	59835452	missense	probably damaging	1.00
R9422:Tanc1	UTSW	2	59807589	missense	probably benign	0.08
R9428:Tanc1	UTSW	2	59771204	missense	probably damaging	1.00
R9694:Tanc1	UTSW	2	59795852	missense	probably damaging	1.00
RF028:Tanc1	UTSW	2	59843269	small deletion	probably benign
RF049:Tanc1	UTSW	2	59843269	small deletion	probably benign
X0063:Tanc1	UTSW	2	59843980	nonsense	probably null
X0064:Tanc1	UTSW	2	59844112	missense	probably damaging	1.00
Z1176:Tanc1	UTSW	2	59772529	missense	possibly damaging	0.93
Z1177:Tanc1	UTSW	2	59790887	missense	probably benign
Z1177:Tanc1	UTSW	2	59791830	missense	probably damaging	1.00

Posted On

2015-04-16