Mutagenetix > Incidental Mutation

Incidental Mutation 'R6179:Tanc1'

487916

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

044321-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6179 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59442386-59676493 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59673320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 1468 (Q1468R)

Ref Sequence

ENSEMBL: ENSMUSP00000108187 (fasta)

Gene Model

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

AlphaFold

Q0VGY8

Predicted Effect

probably benign
Transcript: ENSMUST00000037526
AA Change: Q1475R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036003
Gene: ENSMUSG00000035168
AA Change: Q1475R

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 benign
Transcript: ENSMUST00000112568
AA Change: Q1468R

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108187
Gene: ENSMUSG00000035168
AA Change: Q1468R

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 benign
Transcript: ENSMUST00000139863
AA Change: Q1475R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123345
Gene: ENSMUSG00000035168
AA Change: Q1475R

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: ENSMUST00000147650

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.5%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930426L09Rik	T	C	2: 19,003,653 (GRCm39)		probably benign	Het
4930590J08Rik	T	C	6: 91,919,311 (GRCm39)	S657P	probably damaging	Het
Abca9	T	C	11: 110,025,080 (GRCm39)	I988V	probably benign	Het
Acte1	A	G	7: 143,425,524 (GRCm39)	T58A	probably benign	Het
Aox4	T	A	1: 58,270,662 (GRCm39)	D280E	probably benign	Het
Apob	T	A	12: 8,055,060 (GRCm39)	L1353*	probably null	Het
Atp2b1	C	T	10: 98,858,691 (GRCm39)	R222C	probably damaging	Het
AW209491	T	G	13: 14,811,668 (GRCm39)	S174A	possibly damaging	Het
B930094E09Rik	G	C	18: 31,742,911 (GRCm39)		probably benign	Het
Cbln3	G	T	14: 56,121,517 (GRCm39)	P43Q	possibly damaging	Het
Ccdc181	A	T	1: 164,107,487 (GRCm39)	T57S	probably benign	Het
Ccr2	A	C	9: 123,906,008 (GRCm39)	N96T	probably damaging	Het
Cep131	T	C	11: 119,956,837 (GRCm39)	I868V	probably benign	Het
Chd2	A	G	7: 73,094,071 (GRCm39)	I1535T	probably damaging	Het
Chl1	A	T	6: 103,660,204 (GRCm39)	T377S	probably benign	Het
Cpeb3	A	G	19: 37,065,853 (GRCm39)	F439L	probably damaging	Het
Crb2	T	C	2: 37,680,269 (GRCm39)	V399A	probably damaging	Het
Cry2	C	T	2: 92,244,187 (GRCm39)	G329R	probably damaging	Het
Dock4	A	G	12: 40,781,868 (GRCm39)	E691G	probably benign	Het
Edil3	A	T	13: 88,970,108 (GRCm39)	H3L	probably benign	Het
Endod1	T	C	9: 14,268,757 (GRCm39)	I243V	probably benign	Het
Fpr3	G	A	17: 18,190,919 (GRCm39)	W63*	probably null	Het
Gtse1	T	G	15: 85,753,158 (GRCm39)	N424K	possibly damaging	Het
Kcnt1	G	A	2: 25,783,192 (GRCm39)	V252M	probably damaging	Het
Kifbp	G	A	10: 62,399,029 (GRCm39)	Q130*	probably null	Het
Lmbrd2	T	G	15: 9,149,262 (GRCm39)	I48M	probably damaging	Het
Lrrc7	T	G	3: 158,059,069 (GRCm39)	I13L	probably damaging	Het
Mbd4	A	G	6: 115,822,386 (GRCm39)	S408P	probably benign	Het
Mphosph10	A	G	7: 64,028,529 (GRCm39)	V542A	possibly damaging	Het
Msto1	C	A	3: 88,818,254 (GRCm39)	R331L	probably damaging	Het
Myh10	G	A	11: 68,692,979 (GRCm39)	E1425K	probably damaging	Het
Nup43	T	C	10: 7,554,437 (GRCm39)	I340T	probably benign	Het
Or1j4	T	C	2: 36,740,846 (GRCm39)	S263P	possibly damaging	Het
Pcm1	T	A	8: 41,736,669 (GRCm39)	M884K	probably damaging	Het
Phf20	T	A	2: 156,140,573 (GRCm39)	L749H	probably damaging	Het
Pigp	T	C	16: 94,171,226 (GRCm39)	R22G	probably null	Het
Polr2b	T	C	5: 77,468,824 (GRCm39)	M200T	probably damaging	Het
Ppig	T	A	2: 69,580,471 (GRCm39)	D668E	unknown	Het
Prss3	G	A	6: 41,352,060 (GRCm39)	R68C	probably benign	Het
Retreg3	G	A	11: 100,994,721 (GRCm39)		probably benign	Het
Shank1	T	C	7: 44,006,630 (GRCm39)	F2116L	possibly damaging	Het
Spg21	T	C	9: 65,376,090 (GRCm39)	S33P	possibly damaging	Het
Spns3	A	G	11: 72,390,349 (GRCm39)	S432P	probably damaging	Het
Stra6	A	G	9: 58,042,452 (GRCm39)	E27G	probably damaging	Het
Tbce	T	G	13: 14,194,362 (GRCm39)	E99A	probably benign	Het
Tmem106b	T	C	6: 13,084,252 (GRCm39)	V252A	probably damaging	Het
Trim10	A	G	17: 37,187,923 (GRCm39)	T380A	probably damaging	Het
Trim31	T	A	17: 37,220,501 (GRCm39)	D472E	probably damaging	Het
Vmn2r28	G	A	7: 5,491,003 (GRCm39)	Q415*	probably null	Het
Vwf	G	A	6: 125,626,252 (GRCm39)	C7Y	unknown	Het
Yeats2	C	T	16: 20,033,225 (GRCm39)	P1088L	probably benign	Het
Zfp40	C	A	17: 23,397,354 (GRCm39)	V48L	possibly damaging	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
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
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'- GAGTGCAAGCAACTCCAGAG -3'
(R):5'- TTCTCATGCTAGATTGCCCGG -3'

Sequencing Primer
(F):5'- TCCAGAGGAACCAGCAGC -3'
(R):5'- TAGATTGCCCGGAACCCAGATG -3'

Posted On

2017-10-10