Mutagenetix > Incidental Mutation

Incidental Mutation 'R8768:Trank1'

664239

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

Accession Numbers

Genbank: NM_001164659.1; Ensembl: ENSMUST00000078626

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8768 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111311739-111395775 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111389276 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 1908 (F1908Y)

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: F1908Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000077697
Gene: ENSMUSG00000062296
AA Change: F1908Y

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

0.0598

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (76/77)

Allele List at MGI

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

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr1b	A	T	1: 36,701,507	C222S	probably benign	Het
Actrt3	T	G	3: 30,597,843	R367S	probably damaging	Het
Alg1	T	C	16: 5,242,552	V379A	probably damaging	Het
Ankrd36	A	G	11: 5,643,763	E456G	probably benign	Het
Arhgef33	G	T	17: 80,373,719	A763S	possibly damaging	Het
Armc5	T	G	7: 128,242,611	V597G	probably benign	Het
Asb10	G	T	5: 24,533,692	R456S	probably damaging	Het
Asph	A	G	4: 9,453,417	F702L	probably damaging	Het
Atf7	T	A	15: 102,540,889	T326S	probably benign	Het
Atxn7l2	T	C	3: 108,206,934	N171D	probably benign	Het
BC049715	T	A	6: 136,839,981	M73K	possibly damaging	Het
C2cd6	A	G	1: 59,066,153	V322A	probably benign	Het
Cadps2	A	C	6: 23,382,939	C807W	probably damaging	Het
Ccdc57	C	T	11: 120,897,962	R353H	probably benign	Het
Ccdc89	T	C	7: 90,426,585	M1T	probably null	Het
Cntn1	G	A	15: 92,234,466	V148M	probably damaging	Het
Csmd3	T	A	15: 47,698,176	I1335F		Het
Dap3	A	G	3: 88,927,027	M294T	probably damaging	Het
Dbh	A	G	2: 27,170,316	D168G	probably benign	Het
Dchs2	C	A	3: 83,346,285	A2334E	probably benign	Het
Dcun1d4	T	A	5: 73,520,967	Y102N	probably benign	Het
Dhtkd1	T	C	2: 5,898,722	T918A	probably benign	Het
Dmgdh	C	T	13: 93,688,610	T147I	possibly damaging	Het
Dmxl2	T	G	9: 54,393,821	K2335N	possibly damaging	Het
Efna5	T	C	17: 62,881,130	M1V	probably null	Het
Fpr-rs3	T	C	17: 20,624,682	N66D	probably damaging	Het
Gas2l2	C	A	11: 83,423,173	A438S	probably benign	Het
Hivep3	T	C	4: 120,132,324	S1991P	probably damaging	Het
Hsp90b1	A	T	10: 86,705,305		probably null	Het
Iars	T	A	13: 49,724,626	N875K	probably damaging	Het
Jag1	T	C	2: 137,090,788		probably benign	Het
Jag1	A	C	2: 137,101,601	M225R	possibly damaging	Het
Kcnn2	C	T	18: 45,559,435	S26L	possibly damaging	Het
Kctd2	T	C	11: 115,420,453	S96P	probably damaging	Het
Klhl25	A	G	7: 75,866,611	N422D	probably damaging	Het
Lhx8	A	T	3: 154,322,249	V222E	possibly damaging	Het
Lrig1	A	T	6: 94,654,859	V120D	possibly damaging	Het
Manba	T	A	3: 135,551,234	S553T	probably damaging	Het
Mllt10	T	A	2: 18,162,772	S503T	probably damaging	Het
Nxpe4	A	G	9: 48,392,750	N46D	probably benign	Het
Olfr364-ps1	C	T	2: 37,147,004	S264L	probably benign	Het
Olfr914	A	C	9: 38,607,145	K227Q	probably benign	Het
Pdzd2	C	T	15: 12,437,166	E450K	probably damaging	Het
Phrf1	T	A	7: 141,258,738	F615L	unknown	Het
Plch2	C	A	4: 154,998,867	G538V	probably damaging	Het
Ppp2r2d	T	A	7: 138,874,168	I235N	probably damaging	Het
Prdm15	A	T	16: 97,837,688	D57E	probably benign	Het
Psd3	T	C	8: 67,964,351	D45G	probably damaging	Het
Ptger4	T	A	15: 5,242,657	R185S	probably benign	Het
Ptp4a2	T	A	4: 129,846,506	M121K	probably damaging	Het
Ptpre	T	G	7: 135,681,577	F659V	possibly damaging	Het
Rad54l2	T	G	9: 106,719,610	D199A	probably benign	Het
Rap1gds1	T	C	3: 138,941,760	M556V	probably benign	Het
Scaf8	T	C	17: 3,193,074	V711A	probably benign	Het
Sesn3	G	A	9: 14,314,668	C233Y	probably damaging	Het
Slc45a1	T	A	4: 150,629,749	I680F	probably damaging	Het
Slco1a6	C	T	6: 142,133,171	V133M	probably benign	Het
Syt6	T	C	3: 103,585,534	L119P	probably benign	Het
Szt2	A	C	4: 118,369,416	S2974R	unknown	Het
Taok1	A	T	11: 77,553,886	H454Q	probably damaging	Het
Tbx10	G	A	19: 3,997,303	V136M	probably damaging	Het
Tespa1	A	G	10: 130,362,158	T350A	probably benign	Het
Tnks1bp1	T	A	2: 85,070,636	Y1562*	probably null	Het
Trav6d-4	A	T	14: 52,753,786	H96L	possibly damaging	Het
Tspoap1	T	C	11: 87,778,371	I1490T	probably benign	Het
Ttc21a	T	C	9: 119,941,220	F119S	probably damaging	Het
Ttll3	T	G	6: 113,408,988	M594R	probably damaging	Het
Ttn	T	A	2: 76,968,446	R495*	probably null	Het
Twf1	A	C	15: 94,581,229	L250V	probably damaging	Het
Ubr4	A	T	4: 139,421,765	E458D		Het
Unc50	T	C	1: 37,437,163	F135L	probably benign	Het
Vwa3a	T	A	7: 120,776,076	I371N	probably damaging	Het
Zfp180	T	C	7: 24,105,736	S527P	probably damaging	Het
Zfp512	T	A	5: 31,473,538	I408N	probably damaging	Het
Zfp57	A	G	17: 37,006,185	T52A	probably benign	Het
Zranb2	A	G	3: 157,541,690		probably benign	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
R4843:Trank1	UTSW	9	111366078	missense	probably benign	0.00
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
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
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'- ACAGTCACTCTAACTGGATTCTAAG -3'
(R):5'- TGCACTGAAGCATCCTCTCG -3'

Sequencing Primer
(F):5'- CGCGGCCTATTTCTATAAG -3'
(R):5'- TGAAGCATCCTCTCGACGGAG -3'

Posted On

2021-03-08