Mutagenetix > Incidental Mutations

Incidental Mutation 'R0178:Tanc1'

23748

Institutional Source

Beutler Lab

Gene Symbol

Tanc1

Ensembl Gene

ENSMUSG00000035168

Gene Name

tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1

Synonyms

1200003E16Rik

MMRRC Submission

038446-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0178 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

59612042-59846149 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 59835447 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 1183 (C1183*)

Ref Sequence

ENSEMBL: ENSMUSP00000123345 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000037526
AA Change: C1183*

SMART Domains

Protein: ENSMUSP00000036003
Gene: ENSMUSG00000035168
AA Change: C1183*

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 null
Transcript: ENSMUST00000112568
AA Change: C1176*

SMART Domains

Protein: ENSMUSP00000108187
Gene: ENSMUSG00000035168
AA Change: C1176*

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 null
Transcript: ENSMUST00000139863
AA Change: C1183*

SMART Domains

Protein: ENSMUSP00000123345
Gene: ENSMUSG00000035168
AA Change: C1183*

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

Meta Mutation Damage Score

0.9712

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.5%
20x: 88.8%

Validation Efficiency

95% (69/73)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700125H20Rik	A	G	11: 85,178,438	H94R	probably benign	Het
4922502D21Rik	T	C	6: 129,326,823	R60G	probably benign	Het
4930596D02Rik	T	G	14: 35,811,478	N111T	probably benign	Het
9930021J03Rik	A	G	19: 29,754,788	S342P	probably damaging	Het
Abca1	T	C	4: 53,081,953	D769G	possibly damaging	Het
Adcy6	G	T	15: 98,604,215	Q173K	probably benign	Het
Amotl1	G	A	9: 14,548,773	A890V	probably benign	Het
Arfgap2	C	T	2: 91,267,361	A141V	probably benign	Het
Asb2	G	A	12: 103,325,552	P324L	probably damaging	Het
Cacna1g	G	A	11: 94,463,483	T202I	probably damaging	Het
Capn5	A	G	7: 98,132,891	L214P	probably damaging	Het
Cdh20	A	T	1: 104,975,051	D489V	possibly damaging	Het
Cers5	C	A	15: 99,747,024		probably benign	Het
Chrnb3	T	A	8: 27,393,364	V111D	probably damaging	Het
Colec12	C	T	18: 9,858,921	P568L	unknown	Het
Cyp2r1	T	C	7: 114,550,408	E248G	probably damaging	Het
Dnmt3b	A	G	2: 153,675,018	T536A	probably benign	Het
Eef2	G	A	10: 81,180,292	V496M	possibly damaging	Het
Fam118a	T	C	15: 85,045,880		probably benign	Het
Fer1l6	T	A	15: 58,637,914		probably null	Het
Fhad1	A	C	4: 141,955,340	F497V	probably benign	Het
Gbe1	G	A	16: 70,478,386	G358D	probably damaging	Het
Gdf10	A	G	14: 33,924,101	D69G	probably damaging	Het
Ggt6	A	G	11: 72,436,818	H150R	possibly damaging	Het
Gm1966	A	T	7: 106,601,821	Y739N	probably damaging	Het
Gm45713	A	T	7: 45,134,458	L110Q	probably damaging	Het
Gm9847	T	C	12: 14,494,648		noncoding transcript	Het
Grwd1	T	C	7: 45,830,630	E51G	probably damaging	Het
H13	A	G	2: 152,681,067	Y100C	probably damaging	Het
Kcne1	A	C	16: 92,348,809	M49R	probably damaging	Het
Kcnma1	C	T	14: 23,526,767	R236H	probably damaging	Het
Knl1	T	A	2: 119,058,405		probably benign	Het
Krt40	T	C	11: 99,541,739	I150M	probably damaging	Het
Ldb2	A	T	5: 44,473,499	V300E	probably damaging	Het
Lrp1b	A	T	2: 40,725,907	C3606S	probably damaging	Het
Lrrc42	A	G	4: 107,247,720	I16T	probably damaging	Het
Lrrc6	A	C	15: 66,454,101	D208E	probably benign	Het
Mtus1	G	T	8: 41,002,361	L87I	possibly damaging	Het
Myot	T	C	18: 44,336,986	F10S	probably damaging	Het
Nrg3	A	T	14: 38,376,456	H480Q	probably damaging	Het
Olfr205	A	T	16: 59,329,420	F30I	probably damaging	Het
Olfr691	G	A	7: 105,336,922	R265C	probably benign	Het
Prl2c5	A	T	13: 13,191,805	D220V	probably damaging	Het
Rbm17	G	A	2: 11,587,779	S295L	probably benign	Het
Serpina6	A	G	12: 103,646,913	I376T	probably damaging	Het
Sh2d2a	A	T	3: 87,849,423	T192S	probably benign	Het
Slc27a1	T	C	8: 71,584,462	Y417H	possibly damaging	Het
Slc6a1	T	G	6: 114,304,852	I32S	possibly damaging	Het
Sntb1	T	C	15: 55,906,144	T150A	probably damaging	Het
Tmprss7	C	A	16: 45,690,843	W57C	probably damaging	Het
Ubac1	A	T	2: 26,021,428	V36E	possibly damaging	Het
Zfc3h1	T	C	10: 115,406,725		probably benign	Het
Zfp644	C	T	5: 106,636,905	C592Y	probably damaging	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
IGL02543: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
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
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

Predicted Primers

PCR Primer
(F):5'- GCAGACCTGCTCAGGTTAACACG -3'
(R):5'- TGACCCATCCTGCACACAGGAG -3'

Sequencing Primer
(F):5'- caatgggaagagggacgaag -3'
(R):5'- CCTGCACACAGGAGGAAGTG -3'

Posted On

2013-04-16