Mutagenetix > Incidental Mutation

Incidental Mutation 'R0560:Trank1'

45834

Institutional Source

Beutler Lab

Gene Symbol

Trank1

Ensembl Gene

ENSMUSG00000062296

Gene Name

tetratricopeptide repeat and ankyrin repeat containing 1

Synonyms

A230061D21Rik, LOC235639, C030048J01Rik, Lba1

MMRRC Submission

038752-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0560 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111311739-111395775 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111391086 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 2297 (F2297S)

Ref Sequence

ENSEMBL: ENSMUSP00000077697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078626]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078626
AA Change: F2297S

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077697
Gene: ENSMUSG00000062296
AA Change: F2297S

Domain	Start	End	E-Value	Type
low complexity region	4	30	N/A	INTRINSIC
low complexity region	34	52	N/A	INTRINSIC
low complexity region	113	129	N/A	INTRINSIC
Blast:TPR	144	177	1e-15	BLAST
Blast:TPR	178	209	8e-13	BLAST
Blast:ANK	332	361	1e-6	BLAST
ANK	369	405	5.29e0	SMART
ANK	538	567	2.11e2	SMART
ANK	572	609	7.29e2	SMART
ANK	621	652	1.21e2	SMART
low complexity region	887	895	N/A	INTRINSIC
low complexity region	1152	1172	N/A	INTRINSIC
Blast:AAA	1351	1569	1e-6	BLAST
low complexity region	2166	2177	N/A	INTRINSIC
low complexity region	2395	2411	N/A	INTRINSIC
low complexity region	2636	2649	N/A	INTRINSIC
low complexity region	2966	2983	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196945

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197650

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198890

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (26/26)

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	A	18: 38,254,498 (GRCm38)	L230Q	probably damaging	Het
AI464131	G	A	4: 41,498,167 (GRCm38)	R488W	probably damaging	Het
Apob	T	C	12: 8,005,101 (GRCm38)	Y1334H	probably damaging	Het
Arsb	A	G	13: 93,790,198 (GRCm38)	T159A	possibly damaging	Het
Asb18	A	C	1: 90,014,528 (GRCm38)	V17G	probably damaging	Het
Bicd1	A	G	6: 149,511,962 (GRCm38)	K284E	probably benign	Het
Bspry	A	G	4: 62,486,449 (GRCm38)	R161G	probably damaging	Het
Ccdc138	A	G	10: 58,575,717 (GRCm38)	T636A	probably damaging	Het
Cubn	A	T	2: 13,428,680 (GRCm38)	W1140R	probably damaging	Het
Cyp2t4	A	G	7: 27,158,511 (GRCm38)	T479A	probably damaging	Het
Dtx3l	A	G	16: 35,932,935 (GRCm38)	S434P	probably damaging	Het
Duox2	A	G	2: 122,291,554 (GRCm38)	V611A	probably benign	Het
Epb41l3	T	G	17: 69,274,897 (GRCm38)		probably null	Het
Fam161b	C	T	12: 84,357,718 (GRCm38)	D63N	probably damaging	Het
Gm5422	G	A	10: 31,249,244 (GRCm38)		noncoding transcript	Het
Gpr158	A	T	2: 21,825,274 (GRCm38)	D710V	probably damaging	Het
Krtcap2	T	C	3: 89,249,142 (GRCm38)		probably null	Het
Mtrf1	T	A	14: 79,406,850 (GRCm38)	D199E	probably damaging	Het
Naip6	C	T	13: 100,300,600 (GRCm38)	A472T	probably benign	Het
Ncf2	T	A	1: 152,821,522 (GRCm38)	Y47N	probably damaging	Het
Ovgp1	T	C	3: 105,986,410 (GRCm38)		probably benign	Het
Siglec1	G	T	2: 131,070,346 (GRCm38)	T1692N	probably benign	Het
Slc10a2	T	C	8: 5,089,092 (GRCm38)	N284S	probably benign	Het
Slfn3	T	C	11: 83,213,152 (GRCm38)	F283S	probably damaging	Het
Vmn2r69	A	G	7: 85,409,714 (GRCm38)		probably null	Het
Vps13d	T	C	4: 145,054,190 (GRCm38)	E3957G	probably damaging	Het

Other mutations in Trank1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Trank1	APN	9	111,392,609 (GRCm38)	missense	probably damaging	1.00
IGL00467:Trank1	APN	9	111,364,666 (GRCm38)	splice site	probably benign
IGL00569:Trank1	APN	9	111,345,511 (GRCm38)	missense	possibly damaging	0.69
IGL00585:Trank1	APN	9	111,349,290 (GRCm38)	missense	possibly damaging	0.82
IGL01070:Trank1	APN	9	111,366,793 (GRCm38)	missense	probably damaging	1.00
IGL01134:Trank1	APN	9	111,391,781 (GRCm38)	missense	probably benign
IGL01154:Trank1	APN	9	111,386,400 (GRCm38)	missense	probably benign	0.00
IGL01355:Trank1	APN	9	111,365,520 (GRCm38)	missense	possibly damaging	0.94
IGL01407:Trank1	APN	9	111,364,722 (GRCm38)	missense	probably damaging	0.99
IGL01410:Trank1	APN	9	111,365,049 (GRCm38)	missense	probably benign	0.00
IGL01410:Trank1	APN	9	111,365,259 (GRCm38)	missense	probably benign	0.00
IGL01504:Trank1	APN	9	111,373,544 (GRCm38)	missense	probably damaging	1.00
IGL01744:Trank1	APN	9	111,349,363 (GRCm38)	missense	probably damaging	1.00
IGL02043:Trank1	APN	9	111,363,960 (GRCm38)	missense	probably damaging	0.98
IGL02104:Trank1	APN	9	111,390,712 (GRCm38)	missense	possibly damaging	0.85
IGL02193:Trank1	APN	9	111,367,276 (GRCm38)	missense	probably benign	0.43
IGL02581:Trank1	APN	9	111,383,125 (GRCm38)	missense	probably benign	0.00
IGL02630:Trank1	APN	9	111,373,075 (GRCm38)	missense	possibly damaging	0.70
IGL02839:Trank1	APN	9	111,364,756 (GRCm38)	missense	probably damaging	1.00
IGL02897:Trank1	APN	9	111,367,517 (GRCm38)	missense	probably damaging	0.99
IGL03065:Trank1	APN	9	111,390,293 (GRCm38)	missense	possibly damaging	0.64
IGL03123:Trank1	APN	9	111,367,407 (GRCm38)	missense	probably damaging	1.00
IGL03143:Trank1	APN	9	111,366,087 (GRCm38)	missense	probably damaging	1.00
IGL03323:Trank1	APN	9	111,352,116 (GRCm38)	missense	probably damaging	1.00
1mM(1):Trank1	UTSW	9	111,392,981 (GRCm38)	missense	probably damaging	1.00
PIT4486001:Trank1	UTSW	9	111,390,107 (GRCm38)	missense	probably damaging	1.00
PIT4812001:Trank1	UTSW	9	111,347,912 (GRCm38)	missense	probably damaging	1.00
R0035:Trank1	UTSW	9	111,366,776 (GRCm38)	missense	probably benign	0.00
R0064:Trank1	UTSW	9	111,343,195 (GRCm38)	missense	probably damaging	1.00
R0064:Trank1	UTSW	9	111,343,195 (GRCm38)	missense	probably damaging	1.00
R0089:Trank1	UTSW	9	111,392,910 (GRCm38)	missense	probably benign	0.00
R0207:Trank1	UTSW	9	111,366,253 (GRCm38)	missense	probably damaging	1.00
R0255:Trank1	UTSW	9	111,366,024 (GRCm38)	missense	possibly damaging	0.92
R0334:Trank1	UTSW	9	111,392,940 (GRCm38)	missense	probably damaging	1.00
R0334:Trank1	UTSW	9	111,365,353 (GRCm38)	missense	probably benign	0.00
R0383:Trank1	UTSW	9	111,391,477 (GRCm38)	missense	probably benign	0.08
R0421:Trank1	UTSW	9	111,391,839 (GRCm38)	missense	probably damaging	1.00
R0494:Trank1	UTSW	9	111,391,293 (GRCm38)	missense	probably benign	0.19
R0518:Trank1	UTSW	9	111,333,808 (GRCm38)	missense	probably damaging	1.00
R0637:Trank1	UTSW	9	111,390,441 (GRCm38)	missense	probably damaging	1.00
R0731:Trank1	UTSW	9	111,365,488 (GRCm38)	missense	probably damaging	1.00
R0761:Trank1	UTSW	9	111,366,613 (GRCm38)	missense	probably damaging	1.00
R0766:Trank1	UTSW	9	111,347,469 (GRCm38)	missense	probably benign	0.45
R0827:Trank1	UTSW	9	111,349,417 (GRCm38)	unclassified	probably benign
R1005:Trank1	UTSW	9	111,333,721 (GRCm38)	missense	probably benign	0.13
R1108:Trank1	UTSW	9	111,365,307 (GRCm38)	missense	probably benign	0.00
R1155:Trank1	UTSW	9	111,366,970 (GRCm38)	missense	possibly damaging	0.95
R1470:Trank1	UTSW	9	111,343,232 (GRCm38)	missense	possibly damaging	0.91
R1470:Trank1	UTSW	9	111,343,232 (GRCm38)	missense	possibly damaging	0.91
R1596:Trank1	UTSW	9	111,366,290 (GRCm38)	missense	possibly damaging	0.93
R1601:Trank1	UTSW	9	111,373,477 (GRCm38)	missense	probably damaging	1.00
R1751:Trank1	UTSW	9	111,391,479 (GRCm38)	missense	probably benign
R1754:Trank1	UTSW	9	111,392,871 (GRCm38)	missense	probably benign	0.00
R1767:Trank1	UTSW	9	111,391,479 (GRCm38)	missense	probably benign
R1768:Trank1	UTSW	9	111,392,927 (GRCm38)	missense	probably damaging	0.96
R1809:Trank1	UTSW	9	111,392,825 (GRCm38)	missense	probably benign	0.34
R1912:Trank1	UTSW	9	111,390,709 (GRCm38)	missense	probably benign	0.00
R1920:Trank1	UTSW	9	111,347,928 (GRCm38)	critical splice donor site	probably null
R1960:Trank1	UTSW	9	111,391,628 (GRCm38)	missense	probably damaging	1.00
R1993:Trank1	UTSW	9	111,378,832 (GRCm38)	missense	probably benign	0.20
R2012:Trank1	UTSW	9	111,365,028 (GRCm38)	missense	probably benign
R2025:Trank1	UTSW	9	111,392,039 (GRCm38)	missense	probably benign	0.01
R2050:Trank1	UTSW	9	111,364,788 (GRCm38)	missense	probably damaging	1.00
R2857:Trank1	UTSW	9	111,366,933 (GRCm38)	missense	probably benign	0.00
R2912:Trank1	UTSW	9	111,392,483 (GRCm38)	missense	probably damaging	0.98
R2962:Trank1	UTSW	9	111,352,080 (GRCm38)	missense	probably damaging	1.00
R3030:Trank1	UTSW	9	111,391,530 (GRCm38)	missense	possibly damaging	0.63
R3821:Trank1	UTSW	9	111,378,819 (GRCm38)	missense	probably damaging	1.00
R3822:Trank1	UTSW	9	111,378,819 (GRCm38)	missense	probably damaging	1.00
R3892:Trank1	UTSW	9	111,364,759 (GRCm38)	missense	probably benign	0.03
R4105:Trank1	UTSW	9	111,352,197 (GRCm38)	missense	probably damaging	1.00
R4166:Trank1	UTSW	9	111,373,524 (GRCm38)	nonsense	probably null
R4237:Trank1	UTSW	9	111,367,035 (GRCm38)	missense	probably benign	0.04
R4239:Trank1	UTSW	9	111,367,035 (GRCm38)	missense	probably benign	0.04
R4394:Trank1	UTSW	9	111,365,197 (GRCm38)	missense	possibly damaging	0.86
R4417:Trank1	UTSW	9	111,365,968 (GRCm38)	missense	probably benign	0.17
R4611:Trank1	UTSW	9	111,362,261 (GRCm38)	missense	probably damaging	1.00
R4694:Trank1	UTSW	9	111,392,061 (GRCm38)	missense	probably benign	0.40
R4731:Trank1	UTSW	9	111,390,410 (GRCm38)	missense	probably damaging	1.00
R4843:Trank1	UTSW	9	111,366,078 (GRCm38)	missense	probably benign	0.00
R4852:Trank1	UTSW	9	111,391,895 (GRCm38)	missense	possibly damaging	0.68
R4859:Trank1	UTSW	9	111,365,010 (GRCm38)	missense	probably benign	0.17
R4868:Trank1	UTSW	9	111,365,641 (GRCm38)	missense	probably damaging	1.00
R5080:Trank1	UTSW	9	111,389,221 (GRCm38)	missense	probably damaging	0.99
R5156:Trank1	UTSW	9	111,390,694 (GRCm38)	missense	probably damaging	1.00
R5174:Trank1	UTSW	9	111,365,559 (GRCm38)	missense	probably benign	0.00
R5234:Trank1	UTSW	9	111,386,467 (GRCm38)	missense	probably damaging	1.00
R5386:Trank1	UTSW	9	111,362,402 (GRCm38)	missense	probably benign	0.12
R5419:Trank1	UTSW	9	111,391,301 (GRCm38)	missense	probably damaging	1.00
R5435:Trank1	UTSW	9	111,391,890 (GRCm38)	missense	probably benign	0.00
R5444:Trank1	UTSW	9	111,392,958 (GRCm38)	missense	probably benign	0.04
R5543:Trank1	UTSW	9	111,366,112 (GRCm38)	missense	probably damaging	0.97
R5560:Trank1	UTSW	9	111,390,567 (GRCm38)	missense	probably damaging	1.00
R5772:Trank1	UTSW	9	111,366,676 (GRCm38)	missense	possibly damaging	0.86
R5774:Trank1	UTSW	9	111,391,226 (GRCm38)	missense	probably damaging	1.00
R5843:Trank1	UTSW	9	111,365,860 (GRCm38)	missense	possibly damaging	0.59
R5858:Trank1	UTSW	9	111,392,536 (GRCm38)	missense	probably benign
R5878:Trank1	UTSW	9	111,366,685 (GRCm38)	missense	possibly damaging	0.93
R5900:Trank1	UTSW	9	111,391,716 (GRCm38)	missense	probably damaging	1.00
R5917:Trank1	UTSW	9	111,362,417 (GRCm38)	missense	probably benign	0.38
R5954:Trank1	UTSW	9	111,365,133 (GRCm38)	missense	probably benign	0.13
R6041:Trank1	UTSW	9	111,377,796 (GRCm38)	missense	possibly damaging	0.94
R6112:Trank1	UTSW	9	111,391,737 (GRCm38)	missense	probably damaging	1.00
R6165:Trank1	UTSW	9	111,391,872 (GRCm38)	missense	probably benign	0.00
R6255:Trank1	UTSW	9	111,352,246 (GRCm38)	critical splice donor site	probably null
R6395:Trank1	UTSW	9	111,367,200 (GRCm38)	missense	probably damaging	1.00
R6567:Trank1	UTSW	9	111,347,521 (GRCm38)	missense	probably benign	0.02
R6644:Trank1	UTSW	9	111,364,834 (GRCm38)	missense	possibly damaging	0.85
R6724:Trank1	UTSW	9	111,365,916 (GRCm38)	missense	probably damaging	1.00
R6788:Trank1	UTSW	9	111,390,679 (GRCm38)	missense	probably damaging	1.00
R6831:Trank1	UTSW	9	111,377,899 (GRCm38)	missense	probably benign	0.00
R6934:Trank1	UTSW	9	111,373,090 (GRCm38)	missense	probably damaging	0.99
R7127:Trank1	UTSW	9	111,365,796 (GRCm38)	missense	possibly damaging	0.85
R7206:Trank1	UTSW	9	111,345,515 (GRCm38)	critical splice donor site	probably null
R7236:Trank1	UTSW	9	111,373,074 (GRCm38)	missense	possibly damaging	0.93
R7247:Trank1	UTSW	9	111,367,512 (GRCm38)	missense	probably damaging	1.00
R7292:Trank1	UTSW	9	111,377,870 (GRCm38)	missense	probably benign	0.02
R7310:Trank1	UTSW	9	111,367,126 (GRCm38)	missense	probably damaging	1.00
R7431:Trank1	UTSW	9	111,362,402 (GRCm38)	missense	probably benign	0.12
R7448:Trank1	UTSW	9	111,366,349 (GRCm38)	missense	probably benign	0.01
R7477:Trank1	UTSW	9	111,364,957 (GRCm38)	missense	probably benign	0.00
R7514:Trank1	UTSW	9	111,364,756 (GRCm38)	missense	probably damaging	1.00
R7595:Trank1	UTSW	9	111,365,991 (GRCm38)	missense	probably damaging	1.00
R7637:Trank1	UTSW	9	111,365,296 (GRCm38)	missense	possibly damaging	0.71
R7648:Trank1	UTSW	9	111,391,685 (GRCm38)	missense	probably benign
R7737:Trank1	UTSW	9	111,366,012 (GRCm38)	nonsense	probably null
R7784:Trank1	UTSW	9	111,364,103 (GRCm38)	missense	probably damaging	1.00
R7884:Trank1	UTSW	9	111,392,516 (GRCm38)	missense	probably benign
R7912:Trank1	UTSW	9	111,391,528 (GRCm38)	missense	probably benign	0.04
R7938:Trank1	UTSW	9	111,365,028 (GRCm38)	missense	probably benign
R7979:Trank1	UTSW	9	111,377,899 (GRCm38)	missense	probably benign	0.00
R8064:Trank1	UTSW	9	111,352,076 (GRCm38)	nonsense	probably null
R8100:Trank1	UTSW	9	111,392,793 (GRCm38)	missense	probably damaging	1.00
R8124:Trank1	UTSW	9	111,378,927 (GRCm38)	missense	probably benign	0.31
R8198:Trank1	UTSW	9	111,390,812 (GRCm38)	missense	probably benign	0.09
R8219:Trank1	UTSW	9	111,364,909 (GRCm38)	missense	probably damaging	1.00
R8223:Trank1	UTSW	9	111,365,889 (GRCm38)	missense	probably damaging	1.00
R8316:Trank1	UTSW	9	111,349,302 (GRCm38)	missense	probably benign	0.38
R8347:Trank1	UTSW	9	111,367,249 (GRCm38)	missense	probably damaging	1.00
R8436:Trank1	UTSW	9	111,391,382 (GRCm38)	missense	possibly damaging	0.86
R8489:Trank1	UTSW	9	111,390,275 (GRCm38)	missense	probably benign	0.01
R8682:Trank1	UTSW	9	111,365,344 (GRCm38)	missense	probably benign	0.01
R8768:Trank1	UTSW	9	111,389,276 (GRCm38)	missense	probably benign	0.00
R8770:Trank1	UTSW	9	111,390,824 (GRCm38)	missense	probably benign	0.00
R8829:Trank1	UTSW	9	111,347,523 (GRCm38)	missense	probably benign
R8838:Trank1	UTSW	9	111,364,905 (GRCm38)	missense	probably benign	0.03
R8855:Trank1	UTSW	9	111,312,221 (GRCm38)	missense	unknown
R8929:Trank1	UTSW	9	111,378,935 (GRCm38)	missense	possibly damaging	0.93
R9047:Trank1	UTSW	9	111,362,432 (GRCm38)	missense	probably damaging	0.99
R9090:Trank1	UTSW	9	111,345,479 (GRCm38)	missense	probably damaging	1.00
R9114:Trank1	UTSW	9	111,333,775 (GRCm38)	missense	probably damaging	1.00
R9133:Trank1	UTSW	9	111,391,702 (GRCm38)	missense	possibly damaging	0.93
R9177:Trank1	UTSW	9	111,392,511 (GRCm38)	missense	probably benign	0.00
R9178:Trank1	UTSW	9	111,367,200 (GRCm38)	missense	probably damaging	1.00
R9271:Trank1	UTSW	9	111,345,479 (GRCm38)	missense	probably damaging	1.00
R9314:Trank1	UTSW	9	111,365,981 (GRCm38)	missense	probably damaging	1.00
R9373:Trank1	UTSW	9	111,365,191 (GRCm38)	missense	probably benign	0.25
R9380:Trank1	UTSW	9	111,392,670 (GRCm38)	missense	probably benign	0.07
R9435:Trank1	UTSW	9	111,364,822 (GRCm38)	missense	probably benign	0.04
R9501:Trank1	UTSW	9	111,347,875 (GRCm38)	missense	probably benign	0.00
R9593:Trank1	UTSW	9	111,362,297 (GRCm38)	missense	probably benign	0.30
R9601:Trank1	UTSW	9	111,373,125 (GRCm38)	missense	probably benign	0.18
R9729:Trank1	UTSW	9	111,391,469 (GRCm38)	missense	probably damaging	1.00
X0064:Trank1	UTSW	9	111,343,236 (GRCm38)	missense	possibly damaging	0.57
Z1088:Trank1	UTSW	9	111,364,710 (GRCm38)	missense	probably damaging	0.99
Z1177:Trank1	UTSW	9	111,392,870 (GRCm38)	missense	possibly damaging	0.47
Z1177:Trank1	UTSW	9	111,367,377 (GRCm38)	missense	possibly damaging	0.83
Z1177:Trank1	UTSW	9	111,311,902 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGAGGCCAAGTGCATGGTTCAG -3'
(R):5'- AAGCACAGGTAGGACTTCTCCACG -3'

Sequencing Primer
(F):5'- GTCAAAAATGCACCTGGTTGC -3'
(R):5'- CGGAGCAGCTTCTCAAAGTC -3'

Posted On

2013-06-11