Mutagenetix > Incidental Mutation

Incidental Mutation 'R4843:Trank1'

371999

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

042456-MU

Accession Numbers

Genbank: NM_001164659.1; Ensembl: ENSMUST00000078626

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4843 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111311739-111395775 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111366078 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1057 (S1057G)

Ref Sequence

ENSEMBL: ENSMUSP00000077697 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000078626
AA Change: S1057G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000077697
Gene: ENSMUSG00000062296
AA Change: S1057G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

95% (58/61)

Allele List at MGI

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

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp1	T	A	12: 30,896,145	K124*	probably null	Het
Actl11	G	T	9: 107,929,492	C338F	possibly damaging	Het
Adam5	G	A	8: 24,813,536	S125F	probably damaging	Het
Ap2s1	C	A	7: 16,743,346	A44D	possibly damaging	Het
AW554918	T	C	18: 25,340,000	V84A	probably benign	Het
Bsn	G	A	9: 108,107,189	T3222M	unknown	Het
Car15	A	G	16: 17,836,608	Y155H	possibly damaging	Het
Cdca2	G	T	14: 67,676,976	P945T	probably damaging	Het
Cdh16	A	G	8: 104,621,540	F182L	probably damaging	Het
Cers6	G	A	2: 69,068,659	A214T	probably benign	Het
Ces1g	A	T	8: 93,331,265	M136K	probably damaging	Het
Cnppd1	A	G	1: 75,136,442	V394A	probably benign	Het
Cyp3a59	A	T	5: 146,096,261	I148F	possibly damaging	Het
Dnah1	G	A	14: 31,264,963	A3624V	probably damaging	Het
Exoc3l4	T	C	12: 111,428,053		probably benign	Het
Fap	G	T	2: 62,544,374	P227Q	probably damaging	Het
Fbxw10	G	A	11: 62,847,325	R15H	possibly damaging	Het
Gm11011	T	C	2: 169,587,320		probably benign	Het
Gm11146	A	C	16: 77,595,256		probably benign	Het
Grip1	G	A	10: 119,930,015	R84Q	probably damaging	Het
Hipk2	A	G	6: 38,819,257	C19R	possibly damaging	Het
Hmgcll1	A	G	9: 76,072,634	D102G	possibly damaging	Het
Ighv16-1	A	T	12: 114,068,884	Y99*	probably null	Het
Kank1	T	G	19: 25,431,007	S1283R	probably damaging	Het
Kcnip1	T	A	11: 33,644,504	H95L	probably benign	Het
L3mbtl3	A	T	10: 26,331,879	L314Q	unknown	Het
Marveld3	C	A	8: 109,962,070	R13L	possibly damaging	Het
Mtrf1l	G	T	10: 5,823,696	P23Q	possibly damaging	Het
Npdc1	G	A	2: 25,408,945	D284N	probably damaging	Het
Olfr494	G	A	7: 108,368,143	A218T	probably benign	Het
Olfr786	G	T	10: 129,437,447	V212L	probably benign	Het
Paqr7	A	G	4: 134,506,967	Y45C	probably damaging	Het
Plod3	G	A	5: 136,991,000	W428*	probably null	Het
Pnisr	T	A	4: 21,857,400		probably benign	Het
Ppip5k1	C	A	2: 121,326,887	R1046L	probably damaging	Het
Ppp1r12b	G	T	1: 134,955,733	A17E	probably benign	Het
Prmt5	A	T	14: 54,516,125	I99N	probably benign	Het
Ripk2	T	C	4: 16,155,073	T149A	probably damaging	Het
Rpf2	C	A	10: 40,247,002		probably benign	Het
Rtf1	T	A	2: 119,705,536	D190E	possibly damaging	Het
Shank2	T	A	7: 144,031,409	M49K	probably benign	Het
Snd1	T	G	6: 28,668,643	V443G	probably damaging	Het
Spag9	T	C	11: 94,097,818	F555L	probably damaging	Het
Srfbp1	A	G	18: 52,488,677	K270R	probably benign	Het
Tenm2	T	A	11: 36,024,020	N2230I	probably damaging	Het
Tmem106a	T	C	11: 101,586,195		probably benign	Het
Tpsg1	A	T	17: 25,370,617		probably benign	Het
Unc13d	G	A	11: 116,074,259	T220M	probably damaging	Het
Vmn1r68	T	C	7: 10,527,977	T65A	probably benign	Het
Vps50	T	C	6: 3,536,974		probably null	Het
Washc5	A	G	15: 59,350,371	I85T	possibly damaging	Het
Zfp677	C	T	17: 21,392,526	T2I	probably benign	Het
Zxdc	A	G	6: 90,382,272	T629A	probably damaging	Het

Other mutations in Trank1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Trank1	APN	9	111392609	missense	probably damaging	1.00
IGL00467:Trank1	APN	9	111364666	splice site	probably benign
IGL00569:Trank1	APN	9	111345511	missense	possibly damaging	0.69
IGL00585:Trank1	APN	9	111349290	missense	possibly damaging	0.82
IGL01070:Trank1	APN	9	111366793	missense	probably damaging	1.00
IGL01134:Trank1	APN	9	111391781	missense	probably benign
IGL01154:Trank1	APN	9	111386400	missense	probably benign	0.00
IGL01355:Trank1	APN	9	111365520	missense	possibly damaging	0.94
IGL01407:Trank1	APN	9	111364722	missense	probably damaging	0.99
IGL01410:Trank1	APN	9	111365049	missense	probably benign	0.00
IGL01410:Trank1	APN	9	111365259	missense	probably benign	0.00
IGL01504:Trank1	APN	9	111373544	missense	probably damaging	1.00
IGL01744:Trank1	APN	9	111349363	missense	probably damaging	1.00
IGL02043:Trank1	APN	9	111363960	missense	probably damaging	0.98
IGL02104:Trank1	APN	9	111390712	missense	possibly damaging	0.85
IGL02193:Trank1	APN	9	111367276	missense	probably benign	0.43
IGL02581:Trank1	APN	9	111383125	missense	probably benign	0.00
IGL02630:Trank1	APN	9	111373075	missense	possibly damaging	0.70
IGL02839:Trank1	APN	9	111364756	missense	probably damaging	1.00
IGL02897:Trank1	APN	9	111367517	missense	probably damaging	0.99
IGL03065:Trank1	APN	9	111390293	missense	possibly damaging	0.64
IGL03123:Trank1	APN	9	111367407	missense	probably damaging	1.00
IGL03143:Trank1	APN	9	111366087	missense	probably damaging	1.00
IGL03323:Trank1	APN	9	111352116	missense	probably damaging	1.00
1mM(1):Trank1	UTSW	9	111392981	missense	probably damaging	1.00
PIT4486001:Trank1	UTSW	9	111390107	missense	probably damaging	1.00
PIT4812001:Trank1	UTSW	9	111347912	missense	probably damaging	1.00
R0035:Trank1	UTSW	9	111366776	missense	probably benign	0.00
R0064:Trank1	UTSW	9	111343195	missense	probably damaging	1.00
R0064:Trank1	UTSW	9	111343195	missense	probably damaging	1.00
R0089:Trank1	UTSW	9	111392910	missense	probably benign	0.00
R0207:Trank1	UTSW	9	111366253	missense	probably damaging	1.00
R0255:Trank1	UTSW	9	111366024	missense	possibly damaging	0.92
R0334:Trank1	UTSW	9	111365353	missense	probably benign	0.00
R0334:Trank1	UTSW	9	111392940	missense	probably damaging	1.00
R0383:Trank1	UTSW	9	111391477	missense	probably benign	0.08
R0421:Trank1	UTSW	9	111391839	missense	probably damaging	1.00
R0494:Trank1	UTSW	9	111391293	missense	probably benign	0.19
R0518:Trank1	UTSW	9	111333808	missense	probably damaging	1.00
R0560:Trank1	UTSW	9	111391086	missense	possibly damaging	0.88
R0637:Trank1	UTSW	9	111390441	missense	probably damaging	1.00
R0731:Trank1	UTSW	9	111365488	missense	probably damaging	1.00
R0761:Trank1	UTSW	9	111366613	missense	probably damaging	1.00
R0766:Trank1	UTSW	9	111347469	missense	probably benign	0.45
R0827:Trank1	UTSW	9	111349417	unclassified	probably benign
R1005:Trank1	UTSW	9	111333721	missense	probably benign	0.13
R1108:Trank1	UTSW	9	111365307	missense	probably benign	0.00
R1155:Trank1	UTSW	9	111366970	missense	possibly damaging	0.95
R1470:Trank1	UTSW	9	111343232	missense	possibly damaging	0.91
R1470:Trank1	UTSW	9	111343232	missense	possibly damaging	0.91
R1596:Trank1	UTSW	9	111366290	missense	possibly damaging	0.93
R1601:Trank1	UTSW	9	111373477	missense	probably damaging	1.00
R1751:Trank1	UTSW	9	111391479	missense	probably benign
R1754:Trank1	UTSW	9	111392871	missense	probably benign	0.00
R1767:Trank1	UTSW	9	111391479	missense	probably benign
R1768:Trank1	UTSW	9	111392927	missense	probably damaging	0.96
R1809:Trank1	UTSW	9	111392825	missense	probably benign	0.34
R1912:Trank1	UTSW	9	111390709	missense	probably benign	0.00
R1920:Trank1	UTSW	9	111347928	critical splice donor site	probably null
R1960:Trank1	UTSW	9	111391628	missense	probably damaging	1.00
R1993:Trank1	UTSW	9	111378832	missense	probably benign	0.20
R2012:Trank1	UTSW	9	111365028	missense	probably benign
R2025:Trank1	UTSW	9	111392039	missense	probably benign	0.01
R2050:Trank1	UTSW	9	111364788	missense	probably damaging	1.00
R2857:Trank1	UTSW	9	111366933	missense	probably benign	0.00
R2912:Trank1	UTSW	9	111392483	missense	probably damaging	0.98
R2962:Trank1	UTSW	9	111352080	missense	probably damaging	1.00
R3030:Trank1	UTSW	9	111391530	missense	possibly damaging	0.63
R3821:Trank1	UTSW	9	111378819	missense	probably damaging	1.00
R3822:Trank1	UTSW	9	111378819	missense	probably damaging	1.00
R3892:Trank1	UTSW	9	111364759	missense	probably benign	0.03
R4105:Trank1	UTSW	9	111352197	missense	probably damaging	1.00
R4166:Trank1	UTSW	9	111373524	nonsense	probably null
R4237:Trank1	UTSW	9	111367035	missense	probably benign	0.04
R4239:Trank1	UTSW	9	111367035	missense	probably benign	0.04
R4394:Trank1	UTSW	9	111365197	missense	possibly damaging	0.86
R4417:Trank1	UTSW	9	111365968	missense	probably benign	0.17
R4611:Trank1	UTSW	9	111362261	missense	probably damaging	1.00
R4694:Trank1	UTSW	9	111392061	missense	probably benign	0.40
R4731:Trank1	UTSW	9	111390410	missense	probably damaging	1.00
R4852:Trank1	UTSW	9	111391895	missense	possibly damaging	0.68
R4859:Trank1	UTSW	9	111365010	missense	probably benign	0.17
R4868:Trank1	UTSW	9	111365641	missense	probably damaging	1.00
R5080:Trank1	UTSW	9	111389221	missense	probably damaging	0.99
R5156:Trank1	UTSW	9	111390694	missense	probably damaging	1.00
R5174:Trank1	UTSW	9	111365559	missense	probably benign	0.00
R5234:Trank1	UTSW	9	111386467	missense	probably damaging	1.00
R5386:Trank1	UTSW	9	111362402	missense	probably benign	0.12
R5419:Trank1	UTSW	9	111391301	missense	probably damaging	1.00
R5435:Trank1	UTSW	9	111391890	missense	probably benign	0.00
R5444:Trank1	UTSW	9	111392958	missense	probably benign	0.04
R5543:Trank1	UTSW	9	111366112	missense	probably damaging	0.97
R5560:Trank1	UTSW	9	111390567	missense	probably damaging	1.00
R5772:Trank1	UTSW	9	111366676	missense	possibly damaging	0.86
R5774:Trank1	UTSW	9	111391226	missense	probably damaging	1.00
R5843:Trank1	UTSW	9	111365860	missense	possibly damaging	0.59
R5858:Trank1	UTSW	9	111392536	missense	probably benign
R5878:Trank1	UTSW	9	111366685	missense	possibly damaging	0.93
R5900:Trank1	UTSW	9	111391716	missense	probably damaging	1.00
R5917:Trank1	UTSW	9	111362417	missense	probably benign	0.38
R5954:Trank1	UTSW	9	111365133	missense	probably benign	0.13
R6041:Trank1	UTSW	9	111377796	missense	possibly damaging	0.94
R6112:Trank1	UTSW	9	111391737	missense	probably damaging	1.00
R6165:Trank1	UTSW	9	111391872	missense	probably benign	0.00
R6255:Trank1	UTSW	9	111352246	critical splice donor site	probably null
R6395:Trank1	UTSW	9	111367200	missense	probably damaging	1.00
R6567:Trank1	UTSW	9	111347521	missense	probably benign	0.02
R6644:Trank1	UTSW	9	111364834	missense	possibly damaging	0.85
R6724:Trank1	UTSW	9	111365916	missense	probably damaging	1.00
R6788:Trank1	UTSW	9	111390679	missense	probably damaging	1.00
R6831:Trank1	UTSW	9	111377899	missense	probably benign	0.00
R6934:Trank1	UTSW	9	111373090	missense	probably damaging	0.99
R7127:Trank1	UTSW	9	111365796	missense	possibly damaging	0.85
R7206:Trank1	UTSW	9	111345515	critical splice donor site	probably null
R7236:Trank1	UTSW	9	111373074	missense	possibly damaging	0.93
R7247:Trank1	UTSW	9	111367512	missense	probably damaging	1.00
R7292:Trank1	UTSW	9	111377870	missense	probably benign	0.02
R7310:Trank1	UTSW	9	111367126	missense	probably damaging	1.00
R7431:Trank1	UTSW	9	111362402	missense	probably benign	0.12
R7448:Trank1	UTSW	9	111366349	missense	probably benign	0.01
R7477:Trank1	UTSW	9	111364957	missense	probably benign	0.00
R7514:Trank1	UTSW	9	111364756	missense	probably damaging	1.00
R7595:Trank1	UTSW	9	111365991	missense	probably damaging	1.00
R7637:Trank1	UTSW	9	111365296	missense	possibly damaging	0.71
R7648:Trank1	UTSW	9	111391685	missense	probably benign
R7737:Trank1	UTSW	9	111366012	nonsense	probably null
R7784:Trank1	UTSW	9	111364103	missense	probably damaging	1.00
R7884:Trank1	UTSW	9	111392516	missense	probably benign
R7912:Trank1	UTSW	9	111391528	missense	probably benign	0.04
R7938:Trank1	UTSW	9	111365028	missense	probably benign
R7979:Trank1	UTSW	9	111377899	missense	probably benign	0.00
R8064:Trank1	UTSW	9	111352076	nonsense	probably null
R8100:Trank1	UTSW	9	111392793	missense	probably damaging	1.00
R8124:Trank1	UTSW	9	111378927	missense	probably benign	0.31
R8198:Trank1	UTSW	9	111390812	missense	probably benign	0.09
R8219:Trank1	UTSW	9	111364909	missense	probably damaging	1.00
R8223:Trank1	UTSW	9	111365889	missense	probably damaging	1.00
R8316:Trank1	UTSW	9	111349302	missense	probably benign	0.38
R8347:Trank1	UTSW	9	111367249	missense	probably damaging	1.00
R8436:Trank1	UTSW	9	111391382	missense	possibly damaging	0.86
R8489:Trank1	UTSW	9	111390275	missense	probably benign	0.01
R8682:Trank1	UTSW	9	111365344	missense	probably benign	0.01
R8768:Trank1	UTSW	9	111389276	missense	probably benign	0.00
R8770:Trank1	UTSW	9	111390824	missense	probably benign	0.00
R8829:Trank1	UTSW	9	111347523	missense	probably benign
R8838:Trank1	UTSW	9	111364905	missense	probably benign	0.03
R8855:Trank1	UTSW	9	111312221	missense	unknown
R8929:Trank1	UTSW	9	111378935	missense	possibly damaging	0.93
R9047:Trank1	UTSW	9	111362432	missense	probably damaging	0.99
R9090:Trank1	UTSW	9	111345479	missense	probably damaging	1.00
R9114:Trank1	UTSW	9	111333775	missense	probably damaging	1.00
R9133:Trank1	UTSW	9	111391702	missense	possibly damaging	0.93
R9177:Trank1	UTSW	9	111392511	missense	probably benign	0.00
R9178:Trank1	UTSW	9	111367200	missense	probably damaging	1.00
R9271:Trank1	UTSW	9	111345479	missense	probably damaging	1.00
R9314:Trank1	UTSW	9	111365981	missense	probably damaging	1.00
R9373:Trank1	UTSW	9	111365191	missense	probably benign	0.25
R9380:Trank1	UTSW	9	111392670	missense	probably benign	0.07
R9435:Trank1	UTSW	9	111364822	missense	probably benign	0.04
R9501:Trank1	UTSW	9	111347875	missense	probably benign	0.00
R9593:Trank1	UTSW	9	111362297	missense	probably benign	0.30
R9601:Trank1	UTSW	9	111373125	missense	probably benign	0.18
R9729:Trank1	UTSW	9	111391469	missense	probably damaging	1.00
X0064:Trank1	UTSW	9	111343236	missense	possibly damaging	0.57
Z1088:Trank1	UTSW	9	111364710	missense	probably damaging	0.99
Z1177:Trank1	UTSW	9	111311902	missense	unknown
Z1177:Trank1	UTSW	9	111367377	missense	possibly damaging	0.83
Z1177:Trank1	UTSW	9	111392870	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- CTGTCCTGTGTCCTTCGAAAG -3'
(R):5'- GCCTTCTCCCAGTAAACATGG -3'

Sequencing Primer
(F):5'- TCGAAAGAAGCTGAAGGGTATCAAC -3'
(R):5'- CAAGCAACAGGTTGTTTTTCCAGTG -3'

Posted On

2016-03-01