Mutagenetix > Incidental Mutation

Incidental Mutation 'R1319:Tnrc6a'

157632

Institutional Source

Beutler Lab

Gene Symbol

Tnrc6a

Ensembl Gene

ENSMUSG00000052707

Gene Name

trinucleotide repeat containing 6a

Synonyms

3110054G10Rik, 2010321I05Rik, Tnrc6, CAGH26, D130023A07Rik

MMRRC Submission

039385-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.850) question?

Stock #

R1319 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122723108-122794519 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 122783474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 1481 (V1481M)

Ref Sequence

ENSEMBL: ENSMUSP00000091595 (fasta)

Gene Model

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

AlphaFold

Q3UHK8

Predicted Effect

probably benign
Transcript: ENSMUST00000094053
AA Change: V1481M

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000091595
Gene: ENSMUSG00000052707
AA Change: V1481M

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

unknown
Transcript: ENSMUST00000205760
AA Change: V982M

Predicted Effect

probably benign
Transcript: ENSMUST00000206014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206126

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.3%

Validation Efficiency

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam28	T	C	14: 68,846,578 (GRCm39)	E745G	probably benign	Het
Adamts12	G	T	15: 11,286,877 (GRCm39)	K827N	probably benign	Het
Ang2	T	C	14: 51,433,164 (GRCm39)	T73A	probably benign	Het
Bbs10	T	C	10: 111,134,735 (GRCm39)	L51P	probably damaging	Het
Bean1	T	C	8: 104,943,856 (GRCm39)	I137T	probably benign	Het
Cimip1	A	T	2: 173,369,716 (GRCm39)	S77C	probably damaging	Het
Cttnbp2	T	C	6: 18,434,629 (GRCm39)	T410A	probably benign	Het
Cyp4a10	A	C	4: 115,378,342 (GRCm39)	I143L	probably damaging	Het
Dlg2	A	T	7: 92,087,231 (GRCm39)	Q788L	probably damaging	Het
Epha10	G	A	4: 124,775,707 (GRCm39)	V14I	probably benign	Het
Eprs1	G	A	1: 185,117,159 (GRCm39)	D401N	probably damaging	Het
Fam169a	T	C	13: 97,234,070 (GRCm39)	V114A	probably damaging	Het
Fbn2	G	A	18: 58,333,682 (GRCm39)	P178S	possibly damaging	Het
Fcrl2	A	C	3: 87,169,484 (GRCm39)		probably null	Het
Grm1	G	T	10: 10,565,142 (GRCm39)	H1055Q	probably benign	Het
Mcm6	T	C	1: 128,276,789 (GRCm39)	N267S	probably benign	Het
Or5an1c	T	C	19: 12,218,866 (GRCm39)	D53G	probably damaging	Het
Phc3	T	C	3: 30,984,018 (GRCm39)	I699V	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Pyroxd1	T	C	6: 142,304,874 (GRCm39)	V367A	probably benign	Het
R3hdm1	G	A	1: 128,159,142 (GRCm39)	R939H	probably benign	Het
Rag1	A	T	2: 101,473,537 (GRCm39)	I535N	probably damaging	Het
Rhot1	T	C	11: 80,136,847 (GRCm39)	C310R	probably damaging	Het
Vmn1r234	A	T	17: 21,449,172 (GRCm39)	M29L	probably benign	Het
Vmn2r68	A	G	7: 84,881,700 (GRCm39)	I460T	probably damaging	Het
Zfhx3	T	A	8: 109,660,465 (GRCm39)	Y1240N	probably damaging	Het

Other mutations in Tnrc6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Tnrc6a	APN	7	122,770,003 (GRCm39)	missense	probably benign	0.04
IGL00580:Tnrc6a	APN	7	122,773,501 (GRCm39)	missense	probably damaging	1.00
IGL01309:Tnrc6a	APN	7	122,770,717 (GRCm39)	missense	probably benign	0.04
IGL02004:Tnrc6a	APN	7	122,780,589 (GRCm39)	missense	possibly damaging	0.57
IGL02142:Tnrc6a	APN	7	122,751,414 (GRCm39)	intron	probably benign
IGL02220:Tnrc6a	APN	7	122,769,679 (GRCm39)	missense	probably benign
IGL02436:Tnrc6a	APN	7	122,783,438 (GRCm39)	nonsense	probably null
IGL02670:Tnrc6a	APN	7	122,770,535 (GRCm39)	missense	possibly damaging	0.92
IGL02743:Tnrc6a	APN	7	122,770,696 (GRCm39)	missense	probably damaging	1.00
0152:Tnrc6a	UTSW	7	122,779,877 (GRCm39)	missense	probably damaging	1.00
R0008:Tnrc6a	UTSW	7	122,769,617 (GRCm39)	missense	probably benign	0.00
R0008:Tnrc6a	UTSW	7	122,769,617 (GRCm39)	missense	probably benign	0.00
R0369:Tnrc6a	UTSW	7	122,770,083 (GRCm39)	missense	probably damaging	1.00
R0512:Tnrc6a	UTSW	7	122,785,951 (GRCm39)	splice site	probably benign
R0566:Tnrc6a	UTSW	7	122,770,136 (GRCm39)	missense	probably benign	0.00
R0600:Tnrc6a	UTSW	7	122,771,039 (GRCm39)	missense	probably benign	0.14
R0751:Tnrc6a	UTSW	7	122,769,563 (GRCm39)	missense	possibly damaging	0.73
R1184:Tnrc6a	UTSW	7	122,769,563 (GRCm39)	missense	possibly damaging	0.73
R1405:Tnrc6a	UTSW	7	122,770,301 (GRCm39)	missense	probably damaging	1.00
R1405:Tnrc6a	UTSW	7	122,770,301 (GRCm39)	missense	probably damaging	1.00
R1585:Tnrc6a	UTSW	7	122,776,098 (GRCm39)	missense	probably benign	0.08
R1709:Tnrc6a	UTSW	7	122,769,205 (GRCm39)	missense	probably benign	0.10
R1776:Tnrc6a	UTSW	7	122,770,520 (GRCm39)	missense	probably damaging	1.00
R1791:Tnrc6a	UTSW	7	122,792,140 (GRCm39)	missense	possibly damaging	0.47
R1807:Tnrc6a	UTSW	7	122,761,669 (GRCm39)	splice site	probably benign
R1876:Tnrc6a	UTSW	7	122,761,669 (GRCm39)	splice site	probably benign
R2010:Tnrc6a	UTSW	7	122,770,269 (GRCm39)	missense	probably benign	0.26
R2086:Tnrc6a	UTSW	7	122,761,669 (GRCm39)	splice site	probably benign
R2089:Tnrc6a	UTSW	7	122,771,343 (GRCm39)	critical splice donor site	probably null
R2091:Tnrc6a	UTSW	7	122,771,343 (GRCm39)	critical splice donor site	probably null
R2091:Tnrc6a	UTSW	7	122,771,343 (GRCm39)	critical splice donor site	probably null
R2511:Tnrc6a	UTSW	7	122,770,315 (GRCm39)	missense	probably damaging	1.00
R2830:Tnrc6a	UTSW	7	122,792,172 (GRCm39)	makesense	probably null
R2850:Tnrc6a	UTSW	7	122,779,023 (GRCm39)	missense	probably damaging	1.00
R3916:Tnrc6a	UTSW	7	122,780,607 (GRCm39)	missense	probably damaging	1.00
R4028:Tnrc6a	UTSW	7	122,769,344 (GRCm39)	missense	probably damaging	1.00
R4235:Tnrc6a	UTSW	7	122,770,903 (GRCm39)	missense	probably benign	0.00
R4439:Tnrc6a	UTSW	7	122,751,405 (GRCm39)	nonsense	probably null
R4525:Tnrc6a	UTSW	7	122,779,005 (GRCm39)	missense	probably benign
R4578:Tnrc6a	UTSW	7	122,783,444 (GRCm39)	missense	possibly damaging	0.89
R4613:Tnrc6a	UTSW	7	122,783,512 (GRCm39)	critical splice donor site	probably null
R4711:Tnrc6a	UTSW	7	122,770,301 (GRCm39)	missense	probably damaging	1.00
R4722:Tnrc6a	UTSW	7	122,791,313 (GRCm39)	missense	possibly damaging	0.78
R4746:Tnrc6a	UTSW	7	122,789,220 (GRCm39)	missense	probably damaging	1.00
R4892:Tnrc6a	UTSW	7	122,769,134 (GRCm39)	missense	probably damaging	1.00
R4942:Tnrc6a	UTSW	7	122,791,836 (GRCm39)	missense	probably damaging	0.99
R4967:Tnrc6a	UTSW	7	122,789,095 (GRCm39)	missense	probably damaging	1.00
R5064:Tnrc6a	UTSW	7	122,785,946 (GRCm39)	critical splice donor site	probably null
R5239:Tnrc6a	UTSW	7	122,785,842 (GRCm39)	missense	probably benign
R5604:Tnrc6a	UTSW	7	122,773,459 (GRCm39)	missense	probably damaging	0.97
R5805:Tnrc6a	UTSW	7	122,769,299 (GRCm39)	missense	probably damaging	0.97
R5942:Tnrc6a	UTSW	7	122,785,888 (GRCm39)	missense	probably damaging	1.00
R5988:Tnrc6a	UTSW	7	122,781,603 (GRCm39)	missense	probably damaging	0.96
R6212:Tnrc6a	UTSW	7	122,742,965 (GRCm39)	splice site	probably null
R6284:Tnrc6a	UTSW	7	122,770,558 (GRCm39)	missense	probably damaging	0.99
R6417:Tnrc6a	UTSW	7	122,770,297 (GRCm39)	missense	probably benign	0.01
R6420:Tnrc6a	UTSW	7	122,770,297 (GRCm39)	missense	probably benign	0.01
R6575:Tnrc6a	UTSW	7	122,769,133 (GRCm39)	missense	probably damaging	1.00
R6760:Tnrc6a	UTSW	7	122,771,222 (GRCm39)	missense	probably damaging	1.00
R6886:Tnrc6a	UTSW	7	122,786,668 (GRCm39)	missense	probably benign	0.17
R6968:Tnrc6a	UTSW	7	122,781,650 (GRCm39)	missense	probably benign	0.05
R7216:Tnrc6a	UTSW	7	122,770,718 (GRCm39)	missense	probably benign	0.01
R7260:Tnrc6a	UTSW	7	122,785,813 (GRCm39)	missense	probably benign	0.36
R7299:Tnrc6a	UTSW	7	122,770,136 (GRCm39)	missense	probably benign
R7322:Tnrc6a	UTSW	7	122,770,731 (GRCm39)	missense	probably benign	0.09
R7500:Tnrc6a	UTSW	7	122,772,673 (GRCm39)	splice site	probably null
R7872:Tnrc6a	UTSW	7	122,779,057 (GRCm39)	missense	probably damaging	0.99
R8270:Tnrc6a	UTSW	7	122,769,294 (GRCm39)	missense	possibly damaging	0.92
R8313:Tnrc6a	UTSW	7	122,769,936 (GRCm39)	missense	possibly damaging	0.92
R8348:Tnrc6a	UTSW	7	122,791,346 (GRCm39)	missense	possibly damaging	0.65
R8390:Tnrc6a	UTSW	7	122,761,794 (GRCm39)	missense	probably damaging	0.97
R8448:Tnrc6a	UTSW	7	122,791,346 (GRCm39)	missense	possibly damaging	0.65
R8514:Tnrc6a	UTSW	7	122,783,438 (GRCm39)	nonsense	probably null
R8552:Tnrc6a	UTSW	7	122,761,669 (GRCm39)	splice site	probably benign
R8767:Tnrc6a	UTSW	7	122,783,133 (GRCm39)	unclassified	probably benign
R9047:Tnrc6a	UTSW	7	122,778,946 (GRCm39)	missense	probably damaging	1.00
R9147:Tnrc6a	UTSW	7	122,785,667 (GRCm39)	intron	probably benign
R9153:Tnrc6a	UTSW	7	122,773,519 (GRCm39)	missense	probably damaging	1.00
R9166:Tnrc6a	UTSW	7	122,786,624 (GRCm39)	missense	probably damaging	1.00
R9179:Tnrc6a	UTSW	7	122,791,881 (GRCm39)	missense	probably benign	0.44
R9192:Tnrc6a	UTSW	7	122,789,176 (GRCm39)	missense	probably damaging	1.00
R9457:Tnrc6a	UTSW	7	122,778,958 (GRCm39)	missense	probably benign	0.24
R9778:Tnrc6a	UTSW	7	122,769,635 (GRCm39)	missense	probably benign	0.43
X0064:Tnrc6a	UTSW	7	122,769,021 (GRCm39)	missense	probably benign	0.28
Z1176:Tnrc6a	UTSW	7	122,761,719 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGCACTAGCATAGCTACAAGCCAG -3'
(R):5'- AGATTGCTCCTGTGTCTCTGCAAC -3'

Sequencing Primer
(F):5'- CTGCACATTTGCAGGACTG -3'
(R):5'- gtgtgtgtggagtatatgtgaag -3'

Posted On

2014-02-18