Mutagenetix > Incidental Mutations

Incidental Mutation 'R7260:Tnrc6a'

564538

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: 0.849) question?

Stock #

R7260 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123123885-123195296 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123186590 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1502 (E1502G)

Ref Sequence

ENSEMBL: ENSMUSP00000091595 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000094053
AA Change: E1502G

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000091595
Gene: ENSMUSG00000052707
AA Change: E1502G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (78/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	G	10: 28,973,886	S293P	probably benign	Het
Actn2	T	C	13: 12,276,490	N676S	probably benign	Het
Amfr	C	T	8: 93,976,148	M463I	possibly damaging	Het
Ankdd1a	G	T	9: 65,504,552	A325D	probably damaging	Het
Apba2	A	G	7: 64,739,745	D463G	probably damaging	Het
Arid5b	A	G	10: 68,097,807	V755A	probably damaging	Het
Boc	A	T	16: 44,490,170	F796I		Het
Ccnt1	G	A	15: 98,565,124	Q56*	probably null	Het
Cd248	T	A	19: 5,069,355	Y410*	probably null	Het
Chd9	T	A	8: 90,994,543	N986K	unknown	Het
Col6a6	T	C	9: 105,783,969	T314A	probably benign	Het
Cpped1	A	G	16: 11,828,463	F142L	possibly damaging	Het
Csmd1	C	T	8: 16,000,574	A2221T	probably damaging	Het
Cyp2c69	C	A	19: 39,842,900	V490L	probably benign	Het
Dcst2	T	C	3: 89,366,286	F157S	probably damaging	Het
Ddx54	G	T	5: 120,626,920	R788L	probably benign	Het
Dnah1	T	C	14: 31,269,386	Y3145C	probably damaging	Het
Dnah14	A	T	1: 181,706,744	R2320W	probably damaging	Het
E130309D02Rik	A	G	5: 143,311,839	V151A	probably benign	Het
Emilin2	T	C	17: 71,274,790	T314A	probably benign	Het
Eml2	A	G	7: 19,200,590	S405G	probably benign	Het
Ephb2	A	G	4: 136,771,574	F65L	probably damaging	Het
Fam49b	A	T	15: 63,957,589	F23L	possibly damaging	Het
Fbn2	T	C	18: 58,066,116	D1360G	probably benign	Het
Fbxo22	A	G	9: 55,218,470	T206A	probably benign	Het
Filip1l	A	G	16: 57,570,924	E625G	probably damaging	Het
Gen1	A	C	12: 11,256,848	M172R	probably damaging	Het
Gk5	A	G	9: 96,119,610	K54E	probably benign	Het
Glis3	T	C	19: 28,531,402	E394G	probably benign	Het
Gm16486	T	C	8: 70,708,748	Y197H	probably benign	Het
Helq	T	A	5: 100,791,927	E373D	probably damaging	Het
Ighv1-74	A	G	12: 115,802,752	F83L	probably benign	Het
Kdm4d	T	C	9: 14,463,158	D468G	probably benign	Het
Kif20b	A	G	19: 34,950,210	I957M	probably damaging	Het
Ldhal6b	A	G	17: 5,418,260	F133S	possibly damaging	Het
Loxhd1	T	C	18: 77,332,642	Y321H	possibly damaging	Het
Ltbp1	A	T	17: 75,066,144	M261L	probably benign	Het
Mical2	A	T	7: 112,319,794	Q430L	probably benign	Het
Mroh4	A	T	15: 74,608,129	N885K	possibly damaging	Het
Ms4a7	A	G	19: 11,322,346	Y231H	probably damaging	Het
Msh2	G	T	17: 87,717,619	V642F	probably damaging	Het
Muc5b	G	T	7: 141,842,648	A166S	unknown	Het
Myo18b	T	C	5: 112,775,288	I1868V	probably benign	Het
Nfatc3	T	C	8: 106,108,946	S975P	probably benign	Het
Oacyl	T	C	18: 65,698,367	L25P	probably damaging	Het
Olfr1138	T	C	2: 87,738,508		probably null	Het
Olfr1145	A	G	2: 87,810,387	N189S	probably damaging	Het
Olfr1463	T	C	19: 13,235,024	F258S	probably damaging	Het
Olfr151	T	A	9: 37,730,753	I77F	probably damaging	Het
Olfr816	T	A	10: 129,912,287		probably benign	Het
Patj	A	G	4: 98,416,733	I275V	possibly damaging	Het
Pdcd11	G	A	19: 47,129,234	R1674Q	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Phkb	T	A	8: 85,878,130	Y55N	probably benign	Het
Pias4	A	G	10: 81,157,468	V207A	possibly damaging	Het
Plxna4	C	A	6: 32,239,520	R540L	possibly damaging	Het
Psapl1	G	A	5: 36,205,212	V383M	probably benign	Het
Rars	C	A	11: 35,834,454	A10S	probably benign	Het
Rhobtb1	A	T	10: 69,270,780	K454*	probably null	Het
Rmnd1	A	T	10: 4,414,803		probably null	Het
Rnf213	A	G	11: 119,452,575	I3589V		Het
Rngtt	T	C	4: 33,356,176	S338P	possibly damaging	Het
Sh3bgr	A	G	16: 96,224,481	E189G	unknown	Het
Slc30a3	G	A	5: 31,088,346	T281I	probably damaging	Het
Smok3c	T	A	5: 138,065,623	D457E	possibly damaging	Het
Stard9	C	A	2: 120,706,938	Q4274K	possibly damaging	Het
Syne2	G	T	12: 75,945,079	L1938F	probably damaging	Het
Tmem70	C	A	1: 16,665,366	T20K	possibly damaging	Het
Tpp1	A	T	7: 105,747,497	S438T	probably benign	Het
Tubb2a	T	A	13: 34,075,414	Q131L	probably damaging	Het
Ube2v1	A	G	2: 167,629,194	S26P	probably benign	Het
Unc13a	G	T	8: 71,660,585	S207R	possibly damaging	Het
Usp35	T	G	7: 97,320,079	D362A	probably damaging	Het
Utp20	A	G	10: 88,751,472	I2487T	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r117	T	A	17: 23,475,385	H496L	probably benign	Het
Vmn2r92	C	T	17: 18,166,876	A159V	probably damaging	Het
Wdr63	T	A	3: 146,046,540	M794L	probably benign	Het
Wiz	T	C	17: 32,359,111	K467E	probably damaging	Het
Zfp534	T	C	4: 147,675,004	T403A	probably benign	Het
Zswim5	T	C	4: 116,962,646	L416P	probably damaging	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
R7299:Tnrc6a	UTSW	7	123170913	missense	probably benign
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
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'- TCTGTCAGGGAGCAGAGTAC -3'
(R):5'- TCCACTGCATCACATCAGCG -3'

Sequencing Primer
(F):5'- AGAGTACTGCTTTTTCTCTTGCATC -3'
(R):5'- CAGAACCCTGTTAAGCTATGGCTG -3'

Posted On

2019-06-26