Mutagenetix > Incidental Mutation

Incidental Mutation 'R9283:Tanc1'

703725

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9283 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59442386-59676493 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59630174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 718 (I718T)

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: I718T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000036003
Gene: ENSMUSG00000035168
AA Change: I718T

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: I711T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108187
Gene: ENSMUSG00000035168
AA Change: I711T

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: I718T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123345
Gene: ENSMUSG00000035168
AA Change: I718T

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	G	15: 102,258,499 (GRCm39)	V47A	probably benign	Het
Aamdc	A	G	7: 97,199,842 (GRCm39)	V140A	probably benign	Het
Acsm3	T	A	7: 119,373,115 (GRCm39)	M206K	possibly damaging	Het
Adprhl1	T	C	8: 13,273,540 (GRCm39)	T1073A	probably benign	Het
Aoc1	A	G	6: 48,882,261 (GRCm39)	I46V	probably benign	Het
Ap4b1	A	G	3: 103,722,259 (GRCm39)	S246G	probably damaging	Het
Bach1	A	G	16: 87,516,211 (GRCm39)	T251A	probably benign	Het
Cry2	A	G	2: 92,244,249 (GRCm39)	L308P	probably damaging	Het
Daam1	G	T	12: 72,035,696 (GRCm39)	G964C	probably damaging	Het
Ddx10	T	G	9: 53,146,656 (GRCm39)	N189H	probably benign	Het
Dlg4	T	A	11: 69,922,617 (GRCm39)	C241*	probably null	Het
Dpy19l1	G	T	9: 24,332,412 (GRCm39)	Y489*	probably null	Het
E2f4	C	A	8: 106,024,395 (GRCm39)	A8E	probably benign	Het
Gm3486	T	C	14: 41,210,268 (GRCm39)	N71S	possibly damaging	Het
Ighv1-23	A	G	12: 114,728,225 (GRCm39)	W66R	probably damaging	Het
Kcnh5	A	G	12: 75,023,307 (GRCm39)	L587P	probably damaging	Het
Kctd16	T	C	18: 40,392,233 (GRCm39)	Y274H	possibly damaging	Het
Kif16b	T	A	2: 142,554,900 (GRCm39)	M633L	probably benign	Het
Kif23	T	C	9: 61,852,651 (GRCm39)	N21S	probably benign	Het
Lamtor3	C	T	3: 137,633,123 (GRCm39)	R85C	probably benign	Het
Lin9	A	T	1: 180,493,493 (GRCm39)	T240S	probably damaging	Het
Mtus1	C	A	8: 41,536,519 (GRCm39)	G399V	probably benign	Het
Mup8	C	T	4: 60,221,903 (GRCm39)	V77I	probably benign	Het
Myo5b	C	T	18: 74,777,149 (GRCm39)	A403V	probably benign	Het
Naf1	C	A	8: 67,313,503 (GRCm39)	A162E	unknown	Het
Nat10	G	A	2: 103,556,092 (GRCm39)	Q910*	probably null	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Npas2	A	G	1: 39,326,689 (GRCm39)	K58R	probably damaging	Het
Nsd2	A	T	5: 34,001,058 (GRCm39)	I192F	probably benign	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Ophn1	G	A	X: 97,622,145 (GRCm39)	T668M	probably benign	Het
Or10a3	C	T	7: 108,480,289 (GRCm39)	A175T	probably benign	Het
Or2d4	G	A	7: 106,543,806 (GRCm39)	T134I	probably benign	Het
Or5b105	C	A	19: 13,079,821 (GRCm39)	M282I	probably damaging	Het
Or5b12b	T	A	19: 12,861,961 (GRCm39)	C239S	probably damaging	Het
Or7e177	A	G	9: 20,212,419 (GRCm39)	K309E	possibly damaging	Het
Pcdh17	C	T	14: 84,685,593 (GRCm39)	P687S	possibly damaging	Het
Pdpr	C	T	8: 111,856,268 (GRCm39)	R664W	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pfas	A	T	11: 68,884,708 (GRCm39)	V498E	probably damaging	Het
Pfpl	A	T	19: 12,406,220 (GRCm39)	Y157F	probably damaging	Het
Piezo2	A	T	18: 63,157,637 (GRCm39)	F2358I	probably damaging	Het
Pip5k1b	T	C	19: 24,337,376 (GRCm39)	Y304C	probably damaging	Het
Pls1	G	A	9: 95,655,642 (GRCm39)	A370V	probably benign	Het
Polm	A	T	11: 5,779,050 (GRCm39)	L490H	probably damaging	Het
Prdm5	T	C	6: 65,858,060 (GRCm39)	C375R	probably damaging	Het
Scmh1	A	T	4: 120,319,337 (GRCm39)	M21L	probably benign	Het
Sec16a	C	A	2: 26,313,904 (GRCm39)	R449S		Het
Sin3a	C	T	9: 57,002,717 (GRCm39)	T203I	probably damaging	Het
Six5	A	G	7: 18,829,148 (GRCm39)	E196G	probably damaging	Het
Skint8	T	C	4: 111,785,644 (GRCm39)	V30A	probably damaging	Het
Slc2a12	G	A	10: 22,540,511 (GRCm39)	G122E	probably damaging	Het
Smim14	A	G	5: 65,625,780 (GRCm39)	C11R	probably damaging	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Tead4	A	G	6: 128,205,592 (GRCm39)	L370P	probably damaging	Het
Tnrc6c	A	G	11: 117,591,630 (GRCm39)	K15E	unknown	Het
Trim55	T	G	3: 19,699,612 (GRCm39)		probably null	Het
Trpm1	A	T	7: 63,873,623 (GRCm39)	N510I	probably benign	Het
Trps1	A	G	15: 50,694,447 (GRCm39)	V616A	probably damaging	Het
Usp42	A	T	5: 143,705,264 (GRCm39)	V405E	probably damaging	Het
Zfp11	A	T	5: 129,734,748 (GRCm39)	S238T	probably damaging	Het
Zfp608	T	C	18: 55,030,913 (GRCm39)	H1009R	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
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
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'- TTCCCTAGACGACTTTCCAGAC -3'
(R):5'- GCGTTGATAGCCTGAAATATCTG -3'

Sequencing Primer
(F):5'- GGACATTCACAGTGACCTGC -3'
(R):5'- GAAATATCTGCTCATCCGTCATGGG -3'

Posted On

2022-03-25