Mutagenetix > Incidental Mutation

Incidental Mutation 'R4868:Trank1'

376336

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

042478-MU

Accession Numbers

Genbank: NM_001164659.1; Ensembl: ENSMUST00000078626

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4868 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111311739-111395775 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111365641 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 911 (L911Q)

Ref Sequence

ENSEMBL: ENSMUSP00000077697 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000078626
AA Change: L911Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077697
Gene: ENSMUSG00000062296
AA Change: L911Q

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

0.1076

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

99% (91/92)

Allele List at MGI

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

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 105,710,097	*299W	probably null	Het
4933412E24Rik	G	A	15: 60,015,968	L208F	possibly damaging	Het
Abca8b	G	A	11: 109,974,512	A373V	probably benign	Het
Actn3	A	T	19: 4,864,454	W549R	probably benign	Het
Adamts4	C	T	1: 171,252,431		probably benign	Het
Adcy4	T	C	14: 55,773,722	I615V	probably benign	Het
Akap1	A	G	11: 88,844,553	S428P	possibly damaging	Het
Akap13	A	T	7: 75,743,504	R2476W	probably damaging	Het
Alx3	A	G	3: 107,600,627	S151G	possibly damaging	Het
Aoah	T	A	13: 20,914,981	Y243*	probably null	Het
Asap1	A	G	15: 64,094,181	V1025A	probably benign	Het
Atp8b1	A	T	18: 64,551,866	I728N	probably damaging	Het
Baz2b	C	A	2: 59,924,882	V1001L	possibly damaging	Het
Bmpr2	T	A	1: 59,870,456	S1030T	probably benign	Het
Cacna2d3	A	T	14: 28,956,786		probably null	Het
Casp3	A	T	8: 46,634,279	N87I	probably benign	Het
Ccdc171	T	A	4: 83,694,332	L995Q	probably damaging	Het
Ccdc80	T	A	16: 45,104,413	Y637N	probably damaging	Het
Ccr4	A	G	9: 114,492,833	F55L	probably benign	Het
Cmah	T	A	13: 24,464,264	V494E	probably damaging	Het
Cnot6l	A	G	5: 96,083,023	Y362H	probably damaging	Het
Coq6	T	C	12: 84,370,952	V222A	probably damaging	Het
Ctdspl2	C	A	2: 121,993,398	T240N	possibly damaging	Het
D430041D05Rik	T	C	2: 104,255,409	T248A	possibly damaging	Het
Dctn6	A	T	8: 34,092,076		probably benign	Het
Dhx34	T	C	7: 16,199,802	D955G	probably benign	Het
Dnaaf5	A	G	5: 139,170,186	M541V	probably benign	Het
Dnah17	A	T	11: 118,108,212	S912T	probably benign	Het
Dnah2	A	T	11: 69,463,648	V2248E	probably damaging	Het
Dysf	T	C	6: 84,179,693	W1502R	probably damaging	Het
Dzip1	A	T	14: 118,877,214	V843E	probably damaging	Het
Esp23	G	T	17: 39,074,024	T27K	probably benign	Het
Esp3	A	T	17: 40,633,529	M21L	possibly damaging	Het
Fam43b	T	A	4: 138,395,797	T71S	probably benign	Het
Fam46b	A	G	4: 133,486,082		probably null	Het
Fpgs	G	A	2: 32,692,661	R63C	probably damaging	Het
H2-M11	G	T	17: 36,548,919	W268L	probably damaging	Het
Inpp5b	T	C	4: 124,751,410	S210P	probably damaging	Het
Itsn1	T	A	16: 91,785,317	S51T	probably damaging	Het
Kctd2	G	A	11: 115,429,379	V246I	probably damaging	Het
Krt75	C	T	15: 101,568,121	G403E	probably damaging	Het
Lamp3	T	A	16: 19,701,290	T48S	probably benign	Het
Lyzl4	C	A	9: 121,583,009	V114L	probably damaging	Het
Maml3	C	A	3: 52,103,924	E74*	probably null	Het
Map2k7	G	A	8: 4,247,751		probably benign	Het
Mapk8ip3	A	G	17: 24,901,415	V883A	probably benign	Het
Mbtps1	C	T	8: 119,508,928	V1004I	probably benign	Het
Metap1	G	T	3: 138,483,089	H48Q	probably damaging	Het
Mical2	T	A	7: 112,318,624	V396E	probably damaging	Het
Mks1	T	A	11: 87,853,723		probably benign	Het
Ndst1	T	C	18: 60,695,476	T669A	probably benign	Het
Obox3	T	C	7: 15,627,310	K10R	probably damaging	Het
Olfr1014	T	G	2: 85,776,626	V14G	possibly damaging	Het
Olfr1318	T	A	2: 112,156,571	S207T	probably damaging	Het
Olfr711	C	T	7: 106,971,767	M192I	probably benign	Het
Opn3	T	C	1: 175,663,561	Y302C	probably damaging	Het
Pdzph1	A	T	17: 58,974,756	V177D	probably benign	Het
Pex5l	T	A	3: 32,952,490	I577F	probably damaging	Het
Pmpcb	T	A	5: 21,748,853	Y366*	probably null	Het
Prr14l	A	T	5: 32,829,937	M738K	probably benign	Het
Prx	T	C	7: 27,517,579	S641P	probably benign	Het
Ptchd3	A	G	11: 121,831,057	Y252C	possibly damaging	Het
Reg3a	A	G	6: 78,381,900	E27G	probably damaging	Het
Ripor2	A	G	13: 24,694,141	T300A	possibly damaging	Het
Sdf4	T	A	4: 156,009,185	S259T	probably damaging	Het
Sike1	A	G	3: 102,997,414		probably null	Het
Sis	T	G	3: 72,943,548	I606L	probably benign	Het
Slc30a9	T	C	5: 67,324,683	I94T	probably benign	Het
Slc5a4a	T	C	10: 76,178,231	I424T	probably damaging	Het
Spx	C	T	6: 142,416,390	R72*	probably null	Het
St7	C	A	6: 17,819,266	N56K	probably damaging	Het
Tcte2	C	A	17: 13,728,008	G3V	probably damaging	Het
Tgfb3	T	C	12: 86,062,181	D258G	probably benign	Het
Timeless	G	T	10: 128,247,361	G659V	probably benign	Het
Tnn	T	C	1: 160,130,873	R467G	possibly damaging	Het
Tor1b	T	C	2: 30,956,577		probably null	Het
Ttll2	C	T	17: 7,351,599	V310I	probably benign	Het
Ttyh3	A	T	5: 140,629,466	I389N	probably damaging	Het
Ube3b	T	C	5: 114,398,427	V216A	probably benign	Het
Vezf1	T	A	11: 88,074,694	V254E	probably damaging	Het
Vmn1r122	T	C	7: 21,133,302	E276G	probably benign	Het
Vmn1r167	T	A	7: 23,504,736	N285I	probably benign	Het
Vmn2r45	T	A	7: 8,481,481	I442F	probably benign	Het
Vwa8	C	A	14: 79,183,082	A1741E	probably damaging	Het
Wdr20	T	A	12: 110,738,234	V69E	probably damaging	Het
Xkr4	T	G	1: 3,216,851	Q372P	probably damaging	Het
Zcchc11	T	C	4: 108,549,220		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
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'- GAGATTCAAGCCTGTCTGCAAG -3'
(R):5'- GAATCTGACAGCTTGCAGTG -3'

Sequencing Primer
(F):5'- CAAGACTTTGATAACATGACCTGGG -3'
(R):5'- CTGACAGCTTGCAGTGATCTAAGAC -3'

Posted On

2016-03-17