Mutagenetix > Incidental Mutation

Incidental Mutation 'R0566:Tnrc6a'

46184

Institutional Source

Beutler Lab

Gene Symbol

Tnrc6a

Ensembl Gene

ENSMUSG00000052707

Gene Name

trinucleotide repeat containing 6a

Synonyms

3110054G10Rik, 2010321I05Rik, Tnrc6, CAGH26, D130023A07Rik

MMRRC Submission

038757-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R0566 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122723108-122794519 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122770136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 642 (N642I)

Ref Sequence

ENSEMBL: ENSMUSP00000091595 (fasta)

Gene Model

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

AlphaFold

Q3UHK8

Predicted Effect

probably benign
Transcript: ENSMUST00000094053
AA Change: N642I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000091595
Gene: ENSMUSG00000052707
AA Change: N642I

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

noncoding transcript
Transcript: ENSMUST00000205449

Predicted Effect

probably benign
Transcript: ENSMUST00000205514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205732

Predicted Effect

unknown
Transcript: ENSMUST00000205760
AA Change: N94I

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205789

Predicted Effect

probably benign
Transcript: ENSMUST00000206014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206922

Predicted Effect

probably benign
Transcript: ENSMUST00000206888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211170

Meta Mutation Damage Score

0.0596

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

96% (24/25)

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	T	C	8: 123,508,266 (GRCm39)	L254P	possibly damaging	Het
Adamts6	C	A	13: 104,581,435 (GRCm39)	A850E	probably benign	Het
Ccdc112	A	C	18: 46,423,877 (GRCm39)	V287G	probably damaging	Het
Ctbp2	A	G	7: 132,592,876 (GRCm39)	V811A	probably damaging	Het
Dchs1	A	G	7: 105,408,402 (GRCm39)	V1810A	probably benign	Het
Dhx15	T	G	5: 52,328,767 (GRCm39)	K287T	probably damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
Fryl	T	C	5: 73,221,840 (GRCm39)		probably benign	Het
Gnpda2	A	G	5: 69,742,304 (GRCm39)		probably benign	Het
Mto1	T	C	9: 78,355,583 (GRCm39)	F2S	possibly damaging	Het
Nlrp1a	A	G	11: 71,013,768 (GRCm39)	L494P	probably benign	Het
Or2r2	T	A	6: 42,464,025 (GRCm39)	Y34F	probably damaging	Het
Paqr8	C	A	1: 21,005,687 (GRCm39)	H280Q	possibly damaging	Het
Perm1	A	T	4: 156,302,316 (GRCm39)	M287L	probably benign	Het
Piwil2	A	G	14: 70,647,843 (GRCm39)	V323A	probably damaging	Het
Pon3	A	G	6: 5,232,408 (GRCm39)	V131A	possibly damaging	Het
Prima1	C	A	12: 103,163,573 (GRCm39)	A133S	probably benign	Het
Prl7c1	A	G	13: 27,962,961 (GRCm39)	L14P	probably damaging	Het
Prr23a2	T	A	9: 98,739,041 (GRCm39)	L133H	possibly damaging	Het
Samd3	T	C	10: 26,120,396 (GRCm39)	V157A	possibly damaging	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Tep1	A	T	14: 51,082,871 (GRCm39)		probably null	Het
Tmem208	T	C	8: 106,061,475 (GRCm39)	V167A	probably benign	Het
Vps26a	A	G	10: 62,316,325 (GRCm39)		probably benign	Het
Zfp112	T	C	7: 23,825,102 (GRCm39)	S357P	probably benign	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
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
R1319:Tnrc6a	UTSW	7	122,783,474 (GRCm39)	missense	probably benign	0.02
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'- CTGTGAATGCAACTCTAATGCAGCC -3'
(R):5'- TGCTTAATAGGAGTCTGTCCCCACC -3'

Sequencing Primer
(F):5'- CTCTAATGCAGCCTGGCATAAATG -3'
(R):5'- TCCCCACCCAGAGTTGGATAG -3'

Posted On

2013-06-11