Mutagenetix > Incidental Mutation

Incidental Mutation 'R5889:Tanc2'

456236

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

044090-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5889 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

105480812-105820130 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 105812633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 1359 (R1359L)

Ref Sequence

ENSEMBL: ENSMUSP00000097904 (fasta)

Gene Model

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

AlphaFold

A2A690

Predicted Effect

silent
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: R1359L

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097904
Gene: ENSMUSG00000053580
AA Change: R1359L

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: R501L

SMART Domains

Protein: ENSMUSP00000123674
Gene: ENSMUSG00000053580
AA Change: R501L

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

Meta Mutation Damage Score

0.2078

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.3%

Validation Efficiency

100% (63/63)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	C	2: 35,244,461 (GRCm39)	E297G	probably damaging	Het
Astn1	C	T	1: 158,427,950 (GRCm39)	P707L	possibly damaging	Het
Cep290	T	C	10: 100,334,936 (GRCm39)	S319P	possibly damaging	Het
Chrna4	A	C	2: 180,670,451 (GRCm39)	L435W	probably damaging	Het
Cilp	C	A	9: 65,187,625 (GRCm39)	A1240D	possibly damaging	Het
Col17a1	A	G	19: 47,637,511 (GRCm39)	F1249S	possibly damaging	Het
Creb3l3	T	C	10: 80,928,367 (GRCm39)		probably benign	Het
Cyp4f40	C	A	17: 32,894,731 (GRCm39)	T432N	probably benign	Het
Dsg1c	T	G	18: 20,416,658 (GRCm39)	I853R	possibly damaging	Het
Ebna1bp2	T	A	4: 118,478,620 (GRCm39)	D34E	probably damaging	Het
Edc4	C	T	8: 106,614,654 (GRCm39)	T112I	possibly damaging	Het
Enpep	T	A	3: 129,106,227 (GRCm39)	Y333F	probably damaging	Het
Exoc6	A	G	19: 37,570,693 (GRCm39)	H291R	probably damaging	Het
Fbln5	G	T	12: 101,731,485 (GRCm39)	N236K	probably damaging	Het
Fndc8	A	T	11: 82,789,555 (GRCm39)	T238S	probably damaging	Het
Frem3	T	C	8: 81,340,917 (GRCm39)	V1070A	probably damaging	Het
Gabra4	A	T	5: 71,729,234 (GRCm39)	N515K	possibly damaging	Het
Gemin5	A	G	11: 58,013,181 (GRCm39)	V1422A	possibly damaging	Het
Gm10118	A	G	10: 63,762,890 (GRCm39)		probably benign	Het
Grm5	A	G	7: 87,252,281 (GRCm39)	D177G	probably damaging	Het
Gtf2h4	G	A	17: 35,981,792 (GRCm39)	P147L	possibly damaging	Het
Hgsnat	T	C	8: 26,453,395 (GRCm39)	D265G	probably damaging	Het
Hsd17b4	T	A	18: 50,310,276 (GRCm39)	L513Q	probably damaging	Het
Hsd17b7	A	T	1: 169,783,487 (GRCm39)	M307K	probably benign	Het
Hspa5	T	C	2: 34,664,629 (GRCm39)	V361A	probably damaging	Het
Iqgap2	A	G	13: 95,768,550 (GRCm39)	V1450A	probably benign	Het
Itpr3	A	G	17: 27,334,039 (GRCm39)	E2037G	probably damaging	Het
Itprid2	T	A	2: 79,488,072 (GRCm39)	D718E	probably damaging	Het
Lama5	T	C	2: 179,835,467 (GRCm39)		probably benign	Het
Manba	G	T	3: 135,230,359 (GRCm39)	G311*	probably null	Het
Mettl24	T	A	10: 40,622,486 (GRCm39)	V236E	probably benign	Het
Myh3	A	G	11: 66,977,201 (GRCm39)	D310G	probably damaging	Het
Ncoa4	A	T	14: 31,888,616 (GRCm39)		probably benign	Het
Nop56	G	T	2: 130,117,902 (GRCm39)	R126L	probably damaging	Het
Nos3	C	A	5: 24,573,775 (GRCm39)		probably benign	Het
Or13c7b	T	C	4: 43,820,492 (GRCm39)	M290V	possibly damaging	Het
Pcdhga3	T	A	18: 37,809,662 (GRCm39)	V705D	probably damaging	Het
Prom2	C	T	2: 127,371,331 (GRCm39)	A776T	possibly damaging	Het
Prss48	A	G	3: 85,905,492 (GRCm39)	I127T	probably damaging	Het
Rtca	T	C	3: 116,293,232 (GRCm39)	Y193C	possibly damaging	Het
Samd9l	T	C	6: 3,376,460 (GRCm39)	Y267C	probably damaging	Het
Scube3	A	G	17: 28,379,887 (GRCm39)	R272G	possibly damaging	Het
Sprr1a	G	T	3: 92,391,951 (GRCm39)	H17N	probably benign	Het
Stard3	G	C	11: 98,266,361 (GRCm39)	Q120H	probably benign	Het
Supt6	A	G	11: 78,103,574 (GRCm39)	I1377T	probably damaging	Het
Svop	A	T	5: 114,203,692 (GRCm39)	S30T	probably benign	Het
Syne2	T	A	12: 76,119,026 (GRCm39)	L5882*	probably null	Het
Tmc7	A	C	7: 118,165,549 (GRCm39)	L55R	probably benign	Het
Trappc11	G	A	8: 47,972,613 (GRCm39)	A320V	probably benign	Het
Ttll8	G	C	15: 88,818,142 (GRCm39)	P178A	probably damaging	Het
Ttn	T	C	2: 76,560,993 (GRCm39)	E20809G	probably damaging	Het
Tubb2a	A	T	13: 34,259,451 (GRCm39)	V113E	possibly damaging	Het
Ube2d1	A	T	10: 71,095,699 (GRCm39)		probably benign	Het
Usp48	T	C	4: 137,343,723 (GRCm39)	V452A	probably benign	Het
Vldlr	T	A	19: 27,217,064 (GRCm39)	I39N	probably damaging	Het
Wbp1l	C	T	19: 46,642,619 (GRCm39)	R191*	probably null	Het
Zyg11b	C	T	4: 108,094,577 (GRCm39)	W669*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- AAATGCTACCTGATGCAGTTCTC -3'
(R):5'- TGTCTGGAGGCCAATAGAAAC -3'

Sequencing Primer
(F):5'- CAGTTCTCTGAATTGGTGGCC -3'
(R):5'- GTCTGGAGGCCAATAGAAACATTTTC -3'

Posted On

2017-02-15