Mutagenetix > Incidental Mutations

Incidental Mutation 'R7299:Tnrc6a'

566865

Institutional Source

Beutler Lab

Gene Symbol

Tnrc6a

Ensembl Gene

ENSMUSG00000052707

Gene Name

trinucleotide repeat containing 6a

Synonyms

CAGH26, 2010321I05Rik, Tnrc6, 3110054G10Rik, D130023A07Rik

MMRRC Submission

Accession Numbers

Genbank: NM_144925; MGI: 2385292

Is this an essential gene?

Probably essential (E-score: 0.766) question?

Stock #

R7299 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123123885-123195296 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 123170913 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 642 (N642T)

Ref Sequence

ENSEMBL: ENSMUSP00000091595 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094053] [ENSMUST00000205514] [ENSMUST00000206014] [ENSMUST00000206888]

Predicted Effect

probably benign
Transcript: ENSMUST00000094053
AA Change: N642T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091595
Gene: ENSMUSG00000052707
AA Change: N642T

Domain	Start	End	E-Value	Type
coiled coil region	5	54	N/A	INTRINSIC
low complexity region	69	92	N/A	INTRINSIC
low complexity region	93	113	N/A	INTRINSIC
low complexity region	281	294	N/A	INTRINSIC
low complexity region	430	443	N/A	INTRINSIC
low complexity region	568	590	N/A	INTRINSIC
internal_repeat_1	690	853	3.51e-6	PROSPERO
low complexity region	858	871	N/A	INTRINSIC
Pfam:Ago_hook	1028	1190	1.2e-29	PFAM
low complexity region	1284	1296	N/A	INTRINSIC
low complexity region	1301	1316	N/A	INTRINSIC
low complexity region	1337	1376	N/A	INTRINSIC
low complexity region	1386	1392	N/A	INTRINSIC
Pfam:TNRC6-PABC_bdg	1439	1714	1.5e-126	PFAM
RRM	1717	1784	4.95e-2	SMART
low complexity region	1808	1820	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205514

Predicted Effect

probably benign
Transcript: ENSMUST00000205760
AA Change: N94T

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000206014

Predicted Effect

probably benign
Transcript: ENSMUST00000206888

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

99% (71/72)

MGI Phenotype

FUNCTION: This gene encodes a member of the trinucleotide repeat containing 6 protein family. The protein is highly similar to a human protein that functions in post-transcriptional gene silencing through the RNA interference (RNAi) and microRNA pathways. The human protein associates with messenger RNAs and argonaute proteins in cytoplasmic bodies known as GW-bodies or P-bodies, and inhibiting its expression delocalizes other GW-body proteins and impairs RNAi and microRNA-induced gene silencing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit partial embryonic lethality during organogenesis associated with impaired hematopoiesis. [provided by MGI curators]

Allele List at MGI

All alleles(21) : Gene trapped(21)

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	C	3: 121,679,446	K83N	unknown	Het
Abca13	A	T	11: 9,294,649	N2171Y	probably damaging	Het
Abcc8	G	A	7: 46,105,498	T1532I	possibly damaging	Het
Abtb2	A	T	2: 103,702,424		probably null	Het
Agk	A	T	6: 40,329,517	T7S	possibly damaging	Het
Akap9	C	A	5: 4,032,696	T1940K	probably damaging	Het
Armc4	T	C	18: 7,222,635	K545E	probably damaging	Het
BC024978	G	A	7: 27,201,123	A176T	probably damaging	Het
Ccdc8	A	G	7: 16,996,031	T482A	unknown	Het
Cd2ap	G	A	17: 42,830,013	R212*	probably null	Het
Cenpt	G	A	8: 105,849,904	Q45*	probably null	Het
Cnga1	T	C	5: 72,605,432	I246M	probably benign	Het
Cnot7	A	G	8: 40,507,545	I74T	probably damaging	Het
Cog6	T	C	3: 53,002,507	S275G	probably benign	Het
Csmd2	C	A	4: 128,528,262	D2797E		Het
Ddx24	A	G	12: 103,419,450	M298T	possibly damaging	Het
Eif2b3	T	A	4: 117,052,822	S185T	probably benign	Het
Ergic2	T	A	6: 148,188,112	Y249F	probably damaging	Het
Exoc1	T	A	5: 76,542,159	M182K	probably damaging	Het
Fhdc1	T	C	3: 84,444,540	E1126G	probably damaging	Het
Gabrr2	T	A	4: 33,095,284	M391K	probably benign	Het
Gap43	T	C	16: 42,292,252	K49E	probably damaging	Het
Gata4	T	A	14: 63,203,742	T276S	probably damaging	Het
Gca	C	T	2: 62,689,976	P160L	probably benign	Het
Ghdc	C	T	11: 100,768,116	V397I	possibly damaging	Het
Gm3409	T	A	5: 146,539,547	D169E	probably benign	Het
Gtf3c3	G	A	1: 54,417,708	P511L	probably benign	Het
Hal	T	C	10: 93,492,561	V233A	probably benign	Het
Ighv1-4	T	C	12: 114,487,288	I67V	probably benign	Het
Itgb8	T	C	12: 119,202,461	N112D	probably benign	Het
Klhl38	G	A	15: 58,322,980	R118W	probably damaging	Het
Krtap26-1	T	C	16: 88,647,244	Y163C	possibly damaging	Het
Kyat1	T	C	2: 30,191,995	D44G	probably benign	Het
Mob1a	G	A	6: 83,338,449		probably null	Het
Mst1r	G	T	9: 107,914,790	A842S	possibly damaging	Het
Nhsl1	A	G	10: 18,527,671		probably null	Het
Nos1	A	T	5: 117,867,905	D230V	possibly damaging	Het
Nppb	T	C	4: 147,986,323	S52P	probably benign	Het
Olfml3	T	C	3: 103,735,860	K402E	probably damaging	Het
Olfr1496	G	A	19: 13,781,324	W235*	probably null	Het
Pcdha3	G	A	18: 36,946,924	E240K	possibly damaging	Het
Podxl	G	T	6: 31,524,436	P395T	probably damaging	Het
Prr5l	T	A	2: 101,717,286	D298V	probably damaging	Het
Ptpro	G	A	6: 137,441,144		probably null	Het
Rad9b	A	G	5: 122,352,614	V13A	possibly damaging	Het
Ralgps1	T	C	2: 33,157,873	K365R	probably benign	Het
Reep1	A	T	6: 71,761,389	I44L	probably benign	Het
Ripor2	T	C	13: 24,725,001	I1034T	possibly damaging	Het
Rtn4ip1	T	C	10: 43,936,020	Y338H	probably damaging	Het
Shisa5	G	T	9: 109,054,884		probably benign	Het
Snx24	G	T	18: 53,340,172	V63F	probably damaging	Het
Svep1	G	A	4: 58,046,587	Q3515*	probably null	Het
Tfap2a	T	C	13: 40,721,308	K276E	probably damaging	Het
Tmem158	C	A	9: 123,260,301	S82I	probably damaging	Het
Tmem263	T	A	10: 85,114,397		probably null	Het
Tmtc3	G	T	10: 100,447,474	H740N	not run	Het
Top3a	A	T	11: 60,748,148	F559I	probably damaging	Het
Trak1	A	G	9: 121,451,863		probably null	Het
Trpc4	T	C	3: 54,317,627	I799T	possibly damaging	Het
Ttc7	T	C	17: 87,346,542	I549T	possibly damaging	Het
Tysnd1	C	A	10: 61,696,549	P327T	possibly damaging	Het
Ulk4	T	A	9: 121,145,059	D969V	probably benign	Het
Vcan	T	A	13: 89,705,266	Y525F	probably benign	Het
Vmn1r204	G	A	13: 22,556,805	S202N	probably damaging	Het
Vmn2r107	A	G	17: 20,345,616	I64M	probably benign	Het
Wrn	A	G	8: 33,292,718	F728S	probably damaging	Het
Zfp280b	C	G	10: 76,038,703	Q139E	probably damaging	Het
Zfp322a	C	A	13: 23,357,143	G143V	probably damaging	Het
Zfp322a	C	T	13: 23,357,144	G143S	probably benign	Het
Zfp418	T	A	7: 7,182,828	C597S	possibly damaging	Het
Zfp568	A	G	7: 30,017,244	T190A	probably benign	Het
Zfyve26	A	T	12: 79,282,984	V476D	probably benign	Het

Other mutations in Tnrc6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Tnrc6a	APN	7	123170780	missense	probably benign	0.04
IGL00580:Tnrc6a	APN	7	123174278	missense	probably damaging	1.00
IGL01309:Tnrc6a	APN	7	123171494	missense	probably benign	0.04
IGL02004:Tnrc6a	APN	7	123181366	missense	possibly damaging	0.57
IGL02142:Tnrc6a	APN	7	123152191	intron	probably benign
IGL02220:Tnrc6a	APN	7	123170456	missense	probably benign
IGL02436:Tnrc6a	APN	7	123184215	nonsense	probably null
IGL02670:Tnrc6a	APN	7	123171312	missense	possibly damaging	0.92
IGL02743:Tnrc6a	APN	7	123171473	missense	probably damaging	1.00
0152:Tnrc6a	UTSW	7	123180654	missense	probably damaging	1.00
R0008:Tnrc6a	UTSW	7	123170394	missense	probably benign	0.00
R0008:Tnrc6a	UTSW	7	123170394	missense	probably benign	0.00
R0369:Tnrc6a	UTSW	7	123170860	missense	probably damaging	1.00
R0512:Tnrc6a	UTSW	7	123186728	splice site	probably benign
R0566:Tnrc6a	UTSW	7	123170913	missense	probably benign	0.00
R0600:Tnrc6a	UTSW	7	123171816	missense	probably benign	0.14
R0751:Tnrc6a	UTSW	7	123170340	missense	possibly damaging	0.73
R1184:Tnrc6a	UTSW	7	123170340	missense	possibly damaging	0.73
R1319:Tnrc6a	UTSW	7	123184251	missense	probably benign	0.02
R1405:Tnrc6a	UTSW	7	123171078	missense	probably damaging	1.00
R1405:Tnrc6a	UTSW	7	123171078	missense	probably damaging	1.00
R1585:Tnrc6a	UTSW	7	123176875	missense	probably benign	0.08
R1709:Tnrc6a	UTSW	7	123169982	missense	probably benign	0.10
R1776:Tnrc6a	UTSW	7	123171297	missense	probably damaging	1.00
R1791:Tnrc6a	UTSW	7	123192917	missense	possibly damaging	0.47
R1807:Tnrc6a	UTSW	7	123162446	splice site	probably benign
R1876:Tnrc6a	UTSW	7	123162446	splice site	probably benign
R2010:Tnrc6a	UTSW	7	123171046	missense	probably benign	0.26
R2086:Tnrc6a	UTSW	7	123162446	splice site	probably benign
R2089:Tnrc6a	UTSW	7	123172120	critical splice donor site	probably null
R2091:Tnrc6a	UTSW	7	123172120	critical splice donor site	probably null
R2091:Tnrc6a	UTSW	7	123172120	critical splice donor site	probably null
R2511:Tnrc6a	UTSW	7	123171092	missense	probably damaging	1.00
R2830:Tnrc6a	UTSW	7	123192949	makesense	probably null
R2850:Tnrc6a	UTSW	7	123179800	missense	probably damaging	1.00
R3916:Tnrc6a	UTSW	7	123181384	missense	probably damaging	1.00
R4028:Tnrc6a	UTSW	7	123170121	missense	probably damaging	1.00
R4235:Tnrc6a	UTSW	7	123171680	missense	probably benign	0.00
R4439:Tnrc6a	UTSW	7	123152182	nonsense	probably null
R4525:Tnrc6a	UTSW	7	123179782	missense	probably benign
R4578:Tnrc6a	UTSW	7	123184221	missense	possibly damaging	0.89
R4613:Tnrc6a	UTSW	7	123184289	critical splice donor site	probably null
R4711:Tnrc6a	UTSW	7	123171078	missense	probably damaging	1.00
R4722:Tnrc6a	UTSW	7	123192090	missense	possibly damaging	0.78
R4746:Tnrc6a	UTSW	7	123189997	missense	probably damaging	1.00
R4892:Tnrc6a	UTSW	7	123169911	missense	probably damaging	1.00
R4942:Tnrc6a	UTSW	7	123192613	missense	probably damaging	0.99
R4967:Tnrc6a	UTSW	7	123189872	missense	probably damaging	1.00
R5064:Tnrc6a	UTSW	7	123186723	critical splice donor site	probably null
R5239:Tnrc6a	UTSW	7	123186619	missense	probably benign
R5604:Tnrc6a	UTSW	7	123174236	missense	probably damaging	0.97
R5805:Tnrc6a	UTSW	7	123170076	missense	probably damaging	0.97
R5942:Tnrc6a	UTSW	7	123186665	missense	probably damaging	1.00
R5988:Tnrc6a	UTSW	7	123182380	missense	probably damaging	0.96
R6212:Tnrc6a	UTSW	7	123143742	splice site	probably null
R6284:Tnrc6a	UTSW	7	123171335	missense	probably damaging	0.99
R6417:Tnrc6a	UTSW	7	123171074	missense	probably benign	0.01
R6420:Tnrc6a	UTSW	7	123171074	missense	probably benign	0.01
R6575:Tnrc6a	UTSW	7	123169910	missense	probably damaging	1.00
R6760:Tnrc6a	UTSW	7	123171999	missense	probably damaging	1.00
R6886:Tnrc6a	UTSW	7	123187445	missense	probably benign	0.17
R6968:Tnrc6a	UTSW	7	123182427	missense	probably benign	0.05
R7216:Tnrc6a	UTSW	7	123171495	missense	probably benign	0.01
R7260:Tnrc6a	UTSW	7	123186590	missense	probably benign	0.36
R7322:Tnrc6a	UTSW	7	123171508	missense	probably benign	0.09
R7500:Tnrc6a	UTSW	7	123173450	splice site	probably null
R7872:Tnrc6a	UTSW	7	123179834	missense	probably damaging	0.99
R8270:Tnrc6a	UTSW	7	123170071	missense	possibly damaging	0.92
R8313:Tnrc6a	UTSW	7	123170713	missense	possibly damaging	0.92
R8348:Tnrc6a	UTSW	7	123192123	missense	possibly damaging	0.65
R8390:Tnrc6a	UTSW	7	123162571	missense	probably damaging	0.97
R8448:Tnrc6a	UTSW	7	123192123	missense	possibly damaging	0.65
R8514:Tnrc6a	UTSW	7	123184215	nonsense	probably null
R8552:Tnrc6a	UTSW	7	123162446	splice site	probably benign
X0064:Tnrc6a	UTSW	7	123169798	missense	probably benign	0.28
Z1176:Tnrc6a	UTSW	7	123162496	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTCACCATGGGGAAGTGG -3'
(R):5'- ACGTGGATCTAAGTCAGTTCTG -3'

Sequencing Primer
(F):5'- TGGTGCAAATTCTGGAGGAAGTC -3'
(R):5'- CGTGGATCTAAGTCAGTTCTGTTTAC -3'

Posted On

2019-06-26