Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02004:Tnrc6a'

182206

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tnrc6a

Ensembl Gene

ENSMUSG00000052707

Gene Name

trinucleotide repeat containing 6a

Synonyms

3110054G10Rik, 2010321I05Rik, Tnrc6, CAGH26, D130023A07Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

IGL02004

Quality Score

Status

Chromosome

Chromosomal Location

122723108-122794519 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122780589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1326 (N1326K)

Ref Sequence

ENSEMBL: ENSMUSP00000091595 (fasta)

Gene Model

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

AlphaFold

Q3UHK8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094053
AA Change: N1326K

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000091595
Gene: ENSMUSG00000052707
AA Change: N1326K

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: N827K

Predicted Effect

probably benign
Transcript: ENSMUST00000206014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206126

Predicted Effect

probably benign
Transcript: ENSMUST00000206888

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	G	T	11: 72,082,423 (GRCm39)	A301E	possibly damaging	Het
C4b	A	T	17: 34,957,984 (GRCm39)		probably benign	Het
Cep85	A	G	4: 133,894,698 (GRCm39)	V36A	probably damaging	Het
Cnot10	A	T	9: 114,451,998 (GRCm39)	F259L	probably damaging	Het
Crim1	T	C	17: 78,680,004 (GRCm39)		probably benign	Het
Crispld1	G	A	1: 17,817,744 (GRCm39)	A216T	probably damaging	Het
Cyp8b1	T	C	9: 121,744,058 (GRCm39)	I425V	probably benign	Het
Fat2	A	T	11: 55,173,666 (GRCm39)	V2349D	probably damaging	Het
Fer	G	T	17: 64,231,174 (GRCm39)		probably null	Het
Galnt3	T	C	2: 65,926,270 (GRCm39)	T313A	probably damaging	Het
Hsd3b9	T	A	3: 98,363,735 (GRCm39)	R37W	probably damaging	Het
Igkv10-94	A	T	6: 68,681,928 (GRCm39)	L12*	probably null	Het
Kcnj3	G	A	2: 55,327,243 (GRCm39)	D11N	probably benign	Het
Kit	T	A	5: 75,781,674 (GRCm39)	S368T	probably benign	Het
Mark1	G	A	1: 184,644,786 (GRCm39)	S390L	possibly damaging	Het
Mpped1	C	A	15: 83,684,357 (GRCm39)	S126R	probably damaging	Het
Myh15	A	C	16: 48,930,892 (GRCm39)		probably benign	Het
Nat1	G	A	8: 67,943,878 (GRCm39)	E85K	probably benign	Het
Or9q1	T	C	19: 13,805,427 (GRCm39)	D111G	possibly damaging	Het
Pde3b	A	T	7: 114,118,852 (GRCm39)	M664L	possibly damaging	Het
Phrf1	A	G	7: 140,840,246 (GRCm39)	D1147G	probably benign	Het
Pth1r	G	T	9: 110,571,376 (GRCm39)		probably benign	Het
Shank3	C	T	15: 89,387,502 (GRCm39)		probably benign	Het
Slc39a7	A	C	17: 34,250,095 (GRCm39)		probably benign	Het
Slc6a1	A	G	6: 114,291,286 (GRCm39)	T520A	probably benign	Het
St3gal2	C	A	8: 111,696,804 (GRCm39)	A317E	probably damaging	Het
St3gal3	C	A	4: 117,817,236 (GRCm39)	L139F	possibly damaging	Het
Sval3	T	A	6: 41,949,776 (GRCm39)		probably benign	Het
Syvn1	G	A	19: 6,102,437 (GRCm39)	A502T	probably benign	Het
Tm4sf1	T	C	3: 57,200,499 (GRCm39)	I68V	possibly damaging	Het
Tvp23b	G	A	11: 62,782,826 (GRCm39)	C174Y	probably damaging	Het
Zfp750	T	C	11: 121,402,975 (GRCm39)	D591G	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
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
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

Posted On

2014-05-07