Mutagenetix > Incidental Mutation

Incidental Mutation 'R8855:Trank1'

675258

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8855 (G1)

Quality Score

106.008

Status

Not validated

Chromosome

Chromosomal Location

111311739-111395775 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111312221 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 127 (V127A)

Ref Sequence

ENSEMBL: ENSMUSP00000077697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078626] [ENSMUST00000197049]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000078626
AA Change: V127A

SMART Domains

Protein: ENSMUSP00000077697
Gene: ENSMUSG00000062296
AA Change: V127A

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

probably benign
Transcript: ENSMUST00000197049

SMART Domains

Protein: ENSMUSP00000143534
Gene: ENSMUSG00000062296

Domain	Start	End	E-Value	Type
Blast:TPR	15	48	3e-17	BLAST
SCOP:d1ihga1	15	84	8e-10	SMART
Blast:TPR	49	82	4e-14	BLAST

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	C	T	3: 60,007,090	T38I	probably benign	Het
Ace	T	A	11: 105,970,598	L191*	probably null	Het
Ahctf1	G	A	1: 179,786,776	H451Y	probably damaging	Het
Amotl1	C	A	9: 14,555,573		probably null	Het
Angptl6	T	A	9: 20,875,644	Y261F	probably damaging	Het
Arhgap1	G	T	2: 91,669,399	S293I	probably benign	Het
Atg9a	A	C	1: 75,185,223	F560V	probably damaging	Het
B4galnt4	G	A	7: 141,068,575	G668D	possibly damaging	Het
Btaf1	T	A	19: 36,958,501	N230K	probably benign	Het
Ccne1	A	C	7: 38,100,621	H179Q	probably benign	Het
Cdk5rap2	A	T	4: 70,300,650	D623E	probably damaging	Het
Cenpf	C	A	1: 189,653,233	K2283N	probably benign	Het
Clec16a	A	T	16: 10,644,867	D683V	probably damaging	Het
Clvs2	T	C	10: 33,528,404	D272G	probably benign	Het
Cnksr1	A	G	4: 134,232,183	V380A	probably damaging	Het
Col20a1	C	A	2: 181,013,891	P42T		Het
Ddx47	A	G	6: 135,023,393	K451E	probably benign	Het
Dennd4a	G	A	9: 64,912,390	G1761D	probably benign	Het
Dnah11	T	A	12: 118,192,372	H181L	probably benign	Het
Dync1h1	T	C	12: 110,635,899	C2074R	probably damaging	Het
Ell2	A	T	13: 75,769,674	Q574H	probably damaging	Het
Enpp7	A	G	11: 118,988,365	N50S	possibly damaging	Het
Fbp2	T	C	13: 62,841,895	K199R	probably benign	Het
Fetub	A	T	16: 22,939,571	E368V	possibly damaging	Het
Flt1	A	T	5: 147,570,872	D1209E	probably benign	Het
Flt1	A	T	5: 147,681,650	N260K	probably damaging	Het
Fras1	A	G	5: 96,769,606	H3495R		Het
Fsip2	A	G	2: 82,980,177	Q2280R	probably benign	Het
Gja10	A	T	4: 32,601,573	C270*	probably null	Het
Gpld1	A	G	13: 24,986,907	T794A	probably benign	Het
Gsk3b	A	G	16: 38,184,538	Y157C	probably damaging	Het
Gsta2	T	C	9: 78,337,598	K78R	probably damaging	Het
Gtf3a	A	G	5: 146,948,911	D44G	probably benign	Het
Hap1	C	A	11: 100,356,038	G14W	probably damaging	Het
Hcn4	T	A	9: 58,858,104	I623N	unknown	Het
Kank1	T	C	19: 25,411,338	S792P	possibly damaging	Het
Klra5	A	T	6: 129,903,570	W212R	probably damaging	Het
Kmt2d	A	T	15: 98,856,356	L1622Q	unknown	Het
Lipi	T	A	16: 75,558,593	D343V	probably damaging	Het
Lrp6	A	T	6: 134,468,822	N1009K	probably benign	Het
Lrrc39	T	A	3: 116,570,141	I121N	probably damaging	Het
Mamstr	A	T	7: 45,644,979	D419V	probably benign	Het
Map2k7	C	T	8: 4,243,594	T119I	probably damaging	Het
Mov10l1	A	T	15: 89,011,966	D671V	probably benign	Het
Mrps24	A	T	11: 5,704,642	L104Q	probably damaging	Het
Myh1	T	A	11: 67,211,421	L846H	probably damaging	Het
Ndufaf5	T	A	2: 140,183,920	I133N	possibly damaging	Het
Ndufs5	A	G	4: 123,715,862		probably null	Het
Numa1	G	C	7: 101,990,628	D62H	possibly damaging	Het
Olfr1512	A	T	14: 52,372,739	Y105N	probably damaging	Het
Olfr551	G	T	7: 102,588,738	Q2K	probably benign	Het
Olfr596	T	A	7: 103,309,961	I80N	probably damaging	Het
Olfr876	C	G	9: 37,804,413	F167L	probably damaging	Het
Pag1	T	C	3: 9,699,469	K208R	probably benign	Het
Pkd1	T	C	17: 24,573,077	V1246A	probably damaging	Het
Plekhg2	T	C	7: 28,370,101	T144A	probably benign	Het
Plekhm2	A	T	4: 141,634,347	S262T	probably benign	Het
Pramef17	A	T	4: 143,994,335	L12Q	probably damaging	Het
Prpf4	A	G	4: 62,415,998	D230G	probably benign	Het
Rbm15b	C	T	9: 106,886,396	R191Q	probably benign	Het
Sec16a	G	A	2: 26,439,840	T721I	probably benign	Het
Serpinb6c	A	T	13: 33,899,326	I35N	probably damaging	Het
Sgk1	T	G	10: 21,995,827	S181A	probably benign	Het
Slc25a10	T	C	11: 120,494,969	S74P	probably damaging	Het
Slc30a3	C	A	5: 31,087,981	V332F	possibly damaging	Het
Smg1	A	G	7: 118,206,899	S240P	unknown	Het
Snapc4	G	A	2: 26,374,533	R265W	probably damaging	Het
Taar1	C	T	10: 23,921,078	R225C	possibly damaging	Het
Tmem74	A	G	15: 43,866,835	S271P	probably damaging	Het
Trim66	G	T	7: 109,481,981	H244N	probably damaging	Het
Tshz2	T	A	2: 169,886,505	L1007H	probably damaging	Het
Ttc39c	A	T	18: 12,697,946	S288C	probably benign	Het
Twnk	C	T	19: 45,011,833	Q663*	probably null	Het
Ucn	T	A	5: 31,138,513	Q3L	probably benign	Het
Usp9y	C	T	Y: 1,395,758	R492H	probably damaging	Het
Vars	T	C	17: 35,015,644	S1150P	probably benign	Het
Zc3h7b	G	A	15: 81,772,480	R166Q	probably benign	Het
Zfand1	T	C	3: 10,340,751	D264G	probably benign	Het
Zfp839	A	G	12: 110,868,414	E701G	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
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
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'- ACTCTCCTCGGAGCAAAGGC -3'
(R):5'- CGGGTTACAAGTGCGCAGAG -3'

Sequencing Primer
(F):5'- GCGAGGCGATACGTGAC -3'
(R):5'- GGGAGGGCAGACAACCC -3'

Posted On

2021-07-15