Mutagenetix > Incidental Mutation

Incidental Mutation 'R5795:Tanc1'

447157

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

043386-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5795 (G1)

Quality Score

208

Status

Not validated

Chromosome

Chromosomal Location

59442386-59676493 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59637926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 876 (T876A)

Ref Sequence

ENSEMBL: ENSMUSP00000123345 (fasta)

Gene Model

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

AlphaFold

Q0VGY8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037526
AA Change: T876A

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000036003
Gene: ENSMUSG00000035168
AA Change: T876A

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

noncoding transcript
Transcript: ENSMUST00000056900

Predicted Effect

probably benign
Transcript: ENSMUST00000112568
AA Change: T869A

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108187
Gene: ENSMUSG00000035168
AA Change: T869A

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

possibly damaging
Transcript: ENSMUST00000139863
AA Change: T876A

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123345
Gene: ENSMUSG00000035168
AA Change: T876A

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

noncoding transcript
Transcript: ENSMUST00000162857

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

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
Acp3	A	G	9: 104,186,688 (GRCm39)	V261A	probably benign	Het
Adipor1	C	A	1: 134,352,641 (GRCm39)	N137K	probably damaging	Het
Ahnak	A	T	19: 8,989,746 (GRCm39)	K3677*	probably null	Het
Ankrd24	C	A	10: 81,480,937 (GRCm39)		probably benign	Het
Appl1	G	T	14: 26,664,773 (GRCm39)	P420Q	probably benign	Het
Bmp8b	C	A	4: 123,015,761 (GRCm39)	F249L	possibly damaging	Het
Brat1	G	T	5: 140,698,827 (GRCm39)	A275S	probably benign	Het
C5ar1	T	C	7: 15,982,319 (GRCm39)	K234E	possibly damaging	Het
Cblif	A	G	19: 11,737,740 (GRCm39)	T384A	probably damaging	Het
Ccs	A	G	19: 4,883,367 (GRCm39)		probably null	Het
Chmp5	T	G	4: 40,950,562 (GRCm39)		probably null	Het
Chrna3	T	A	9: 54,922,552 (GRCm39)	T419S	probably benign	Het
Crocc	TCTGAGCTGCTGAGCTGC	TCTGAGCTGC	4: 140,769,118 (GRCm39)		probably null	Het
Csf3	G	T	11: 98,592,853 (GRCm39)	C72F	probably damaging	Het
Dbndd1	A	G	8: 124,236,619 (GRCm39)	I83T	probably damaging	Het
Ercc6	A	G	14: 32,248,309 (GRCm39)	K287E	probably damaging	Het
F5	C	T	1: 163,979,578 (GRCm39)	T16I	probably benign	Het
Hephl1	C	T	9: 14,981,056 (GRCm39)	G792E	probably damaging	Het
Hmmr	T	A	11: 40,612,733 (GRCm39)	D158V	probably damaging	Het
Hsd11b1	A	G	1: 192,922,940 (GRCm39)	S76P	possibly damaging	Het
Ilvbl	T	C	10: 78,412,978 (GRCm39)	S167P	probably benign	Het
Irf7	G	A	7: 140,845,029 (GRCm39)	P118L	probably damaging	Het
Lama1	A	G	17: 68,103,722 (GRCm39)	N1981S	probably benign	Het
Lrp4	A	G	2: 91,304,816 (GRCm39)	D224G	probably benign	Het
Mink1	T	C	11: 70,498,616 (GRCm39)	Y594H	possibly damaging	Het
Minpp1	G	A	19: 32,491,557 (GRCm39)	V412M	probably damaging	Het
Muc5b	G	A	7: 141,425,478 (GRCm39)	V4708M	possibly damaging	Het
Mycl	G	A	4: 122,890,415 (GRCm39)	E34K	probably damaging	Het
Oaf	T	A	9: 43,135,241 (GRCm39)	D179V	probably damaging	Het
Ogfod2	G	A	5: 124,252,824 (GRCm39)	G278D	probably damaging	Het
Or2h1	A	G	17: 37,404,661 (GRCm39)	L35P	probably damaging	Het
Or5b12	A	G	19: 12,897,188 (GRCm39)	F162L	possibly damaging	Het
Paf1	T	G	7: 28,096,043 (GRCm39)	M250R	probably damaging	Het
Pcdh8	T	C	14: 80,008,420 (GRCm39)	T48A	possibly damaging	Het
Pdzph1	A	G	17: 59,192,862 (GRCm39)	V1096A	possibly damaging	Het
Polr3b	T	C	10: 84,512,875 (GRCm39)	S586P	probably damaging	Het
Polr3b	A	T	10: 84,464,116 (GRCm39)	E25D	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Slc28a2b	T	C	2: 122,348,475 (GRCm39)	M274T	possibly damaging	Het
Slc31a2	T	C	4: 62,215,289 (GRCm39)	V112A	probably damaging	Het
Spire1	A	T	18: 67,628,265 (GRCm39)	S412T	probably benign	Het
Tango6	T	A	8: 107,444,709 (GRCm39)	L538H	probably damaging	Het
Tas2r125	G	A	6: 132,886,621 (GRCm39)	G3D	probably damaging	Het
Tbc1d32	A	T	10: 56,091,158 (GRCm39)	M125K	possibly damaging	Het
Traf5	T	C	1: 191,731,807 (GRCm39)	S345G	probably benign	Het
Ush2a	A	T	1: 188,175,594 (GRCm39)	I1231F	probably benign	Het
Vmn2r104	G	T	17: 20,250,372 (GRCm39)	T633N	probably benign	Het
Vmn2r104	A	G	17: 20,250,544 (GRCm39)	S576P	possibly damaging	Het
Vmn2r105	A	T	17: 20,448,998 (GRCm39)	C60S	probably benign	Het
Zfp316	A	T	5: 143,248,594 (GRCm39)	D217E	unknown	Het
Zfp456	A	T	13: 67,515,039 (GRCm39)	D222E	probably benign	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
IGL02543: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
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

Predicted Primers

PCR Primer
(F):5'- TGCATATAGTTGACAGGGCCTG -3'
(R):5'- CATCACCAGGAGAACCTCTG -3'

Sequencing Primer
(F):5'- CATATAGTTGACAGGGCCTGTGGTC -3'
(R):5'- AGGAGAACCTCTGCCCTCTCAG -3'

Posted On

2016-12-15