Mutagenetix > Incidental Mutation

Incidental Mutation 'R5988:Tnrc6a'

481822

Institutional Source

Beutler Lab

Gene Symbol

Tnrc6a

Ensembl Gene

ENSMUSG00000052707

Gene Name

trinucleotide repeat containing 6a

Synonyms

3110054G10Rik, 2010321I05Rik, Tnrc6, CAGH26, D130023A07Rik

MMRRC Submission

044168-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R5988 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122723108-122794519 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122781603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1424 (N1424K)

Ref Sequence

ENSEMBL: ENSMUSP00000091595 (fasta)

Gene Model

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

AlphaFold

Q3UHK8

Predicted Effect

probably damaging
Transcript: ENSMUST00000094053
AA Change: N1424K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000091595
Gene: ENSMUSG00000052707
AA Change: N1424K

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: N925K

Predicted Effect

probably benign
Transcript: ENSMUST00000206014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206126

Predicted Effect

probably benign
Transcript: ENSMUST00000206888

Coding Region Coverage

1x: 99.8%
3x: 99.1%
10x: 95.3%
20x: 84.3%

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	T	A	14: 29,715,030 (GRCm39)	M615K	possibly damaging	Het
Acvr1c	A	T	2: 58,205,886 (GRCm39)	C25S	probably damaging	Het
Adk	A	T	14: 21,473,616 (GRCm39)	E291V	probably benign	Het
Ahnak	C	A	19: 8,986,711 (GRCm39)		probably benign	Het
Alg11	A	G	8: 22,552,044 (GRCm39)	T63A	probably benign	Het
Alox12	A	T	11: 70,142,413 (GRCm39)	S272T	probably benign	Het
Armc10	T	A	5: 21,865,581 (GRCm39)	S195T	probably damaging	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Baat	G	A	4: 49,502,871 (GRCm39)	P84S	probably damaging	Het
BB014433	G	A	8: 15,091,854 (GRCm39)	T333I	probably damaging	Het
BC035947	G	A	1: 78,475,843 (GRCm39)	R230*	probably null	Het
Bcr	G	A	10: 75,011,167 (GRCm39)	G26E	probably benign	Het
Ccdc88b	T	C	19: 6,833,348 (GRCm39)	E233G	probably damaging	Het
Cep295	A	G	9: 15,252,770 (GRCm39)	F353L	probably damaging	Het
Chd8	T	C	14: 52,455,395 (GRCm39)	M1031V	probably damaging	Het
Col17a1	C	G	19: 47,642,659 (GRCm39)	G885R	probably damaging	Het
Cyp11a1	A	C	9: 57,928,117 (GRCm39)	I214L	probably benign	Het
Cyp3a44	A	T	5: 145,731,728 (GRCm39)	S139R	probably damaging	Het
Ddhd2	G	A	8: 26,238,589 (GRCm39)	R64C	probably damaging	Het
Dll3	A	G	7: 27,993,537 (GRCm39)	W561R	probably damaging	Het
Dnajc3	T	C	14: 119,195,376 (GRCm39)	V97A	possibly damaging	Het
Drosha	C	T	15: 12,834,582 (GRCm39)		probably benign	Het
E2f8	T	C	7: 48,524,743 (GRCm39)	D302G	probably damaging	Het
Ecd	C	G	14: 20,374,629 (GRCm39)	D504H	probably damaging	Het
Eif1ad15	T	A	12: 88,288,202 (GRCm39)	N17I	unknown	Het
Eif4g2	C	A	7: 110,676,437 (GRCm39)	V331L	probably benign	Het
Fam124a	T	C	14: 62,824,986 (GRCm39)	I160T	possibly damaging	Het
Fat1	A	G	8: 45,482,493 (GRCm39)	T3051A	probably benign	Het
Gm10271	A	T	10: 116,808,497 (GRCm39)	F6L	probably damaging	Het
Gm572	A	G	4: 148,752,964 (GRCm39)	E281G	possibly damaging	Het
Gm9944	T	C	4: 144,179,775 (GRCm39)		probably benign	Het
Gstm5	A	C	3: 107,803,270 (GRCm39)	M1L	probably benign	Het
Havcr1	A	G	11: 46,646,964 (GRCm39)	T133A	probably damaging	Het
Hey1	T	G	3: 8,731,379 (GRCm39)	S68R	probably damaging	Het
Hsf2bp	C	T	17: 32,230,149 (GRCm39)		probably null	Het
Id2	T	C	12: 25,145,723 (GRCm39)	N96S	probably benign	Het
Ifi206	A	C	1: 173,308,906 (GRCm39)	S363R	possibly damaging	Het
Il21r	T	C	7: 125,231,460 (GRCm39)	F296S	probably damaging	Het
Irgm2	A	G	11: 58,111,013 (GRCm39)	T247A	probably benign	Het
Irx5	T	A	8: 93,087,299 (GRCm39)	Y410*	probably null	Het
Kmt2c	A	G	5: 25,516,118 (GRCm39)	I2575T	probably benign	Het
Lmbrd2	T	A	15: 9,182,493 (GRCm39)		probably null	Het
Lrig1	A	C	6: 94,605,023 (GRCm39)	S191A	probably damaging	Het
Lrrc37	T	C	11: 103,506,722 (GRCm39)		probably benign	Het
Lypd6b	T	A	2: 49,836,178 (GRCm39)	C120S	probably damaging	Het
Mpdz	A	G	4: 81,202,812 (GRCm39)		probably null	Het
Myh6	G	T	14: 55,202,851 (GRCm39)	R23S	probably damaging	Het
Nat8f6	C	T	6: 85,786,040 (GRCm39)	M36I	probably benign	Het
Nol8	T	A	13: 49,826,090 (GRCm39)	M970K	possibly damaging	Het
Nrxn2	T	C	19: 6,542,901 (GRCm39)	F1042L	possibly damaging	Het
Nup160	T	C	2: 90,519,553 (GRCm39)	W277R	probably damaging	Het
Ogfr	A	T	2: 180,236,026 (GRCm39)	T204S	probably damaging	Het
Or10j5	T	A	1: 172,784,723 (GRCm39)	Y120*	probably null	Het
Or1ak2	A	G	2: 36,827,236 (GRCm39)	Y35C	probably damaging	Het
Or1p1	T	C	11: 74,179,679 (GRCm39)	V69A	probably benign	Het
Or2n1d	T	C	17: 38,646,911 (GRCm39)	F288L	probably damaging	Het
Or52n2b	A	T	7: 104,566,125 (GRCm39)	V126E	probably damaging	Het
Or8c20	T	C	9: 38,261,045 (GRCm39)	V222A	probably benign	Het
Pcdh15	A	G	10: 74,215,189 (GRCm39)	I648V	probably benign	Het
Pced1b	T	A	15: 97,282,228 (GRCm39)	V89E	probably damaging	Het
Phax	G	T	18: 56,708,564 (GRCm39)	A43S	probably benign	Het
Phf20	A	G	2: 156,149,250 (GRCm39)	E976G	probably damaging	Het
Plin4	T	C	17: 56,416,567 (GRCm39)	T8A	probably benign	Het
Plxna1	G	A	6: 89,334,522 (GRCm39)	Q36*	probably null	Het
Pold1	T	C	7: 44,190,004 (GRCm39)	Y394C	probably damaging	Het
Ppp1r26	T	A	2: 28,342,566 (GRCm39)	V732E	probably benign	Het
Pramel5	A	T	4: 143,999,716 (GRCm39)	C124S	possibly damaging	Het
Prorp	T	A	12: 55,424,002 (GRCm39)	M441K	probably damaging	Het
Prr14l	C	A	5: 32,988,195 (GRCm39)	L433F	probably damaging	Het
Ptpn14	A	G	1: 189,582,584 (GRCm39)	Y477C	probably damaging	Het
Rcl1	T	A	19: 29,099,167 (GRCm39)	I154N	probably damaging	Het
Rfpl4	T	C	7: 5,118,501 (GRCm39)	Y23C	probably damaging	Het
Rims1	T	C	1: 22,635,544 (GRCm39)	K146E	probably damaging	Het
Rims2	A	T	15: 39,155,577 (GRCm39)	K126M	probably damaging	Het
Rpusd4	T	A	9: 35,183,816 (GRCm39)		probably null	Het
Scn7a	C	T	2: 66,556,558 (GRCm39)	W342*	probably null	Het
Sh3pxd2a	A	G	19: 47,353,077 (GRCm39)	V128A	probably benign	Het
Slc15a5	T	C	6: 138,020,529 (GRCm39)	H268R	probably benign	Het
Slc22a3	T	C	17: 12,652,782 (GRCm39)	I321V	possibly damaging	Het
Slc7a6os	A	G	8: 106,928,965 (GRCm39)	S231P	probably benign	Het
Smad5	T	C	13: 56,883,798 (GRCm39)	S395P	probably damaging	Het
Sorbs3	G	A	14: 70,440,752 (GRCm39)	T20I	probably benign	Het
Spata9	A	G	13: 76,116,236 (GRCm39)	I42V	probably benign	Het
Srl	C	T	16: 4,340,892 (GRCm39)	C9Y	unknown	Het
Sugp2	T	C	8: 70,695,875 (GRCm39)	F283L	probably benign	Het
Syne2	T	C	12: 75,976,191 (GRCm39)		probably null	Het
Taar6	A	G	10: 23,861,154 (GRCm39)	Y131H	probably damaging	Het
Tango2	T	C	16: 18,120,554 (GRCm39)	T137A	probably damaging	Het
Tas2r106	T	A	6: 131,655,606 (GRCm39)	I82L	probably benign	Het
Tbc1d32	T	C	10: 55,964,433 (GRCm39)	E922G	probably damaging	Het
Tgfb2	G	T	1: 186,436,778 (GRCm39)	P65Q	probably benign	Het
Tjp2	T	G	19: 24,091,464 (GRCm39)	I566L	probably benign	Het
Trim7	A	T	11: 48,728,513 (GRCm39)	M54L	probably benign	Het
Trpm1	T	A	7: 63,876,553 (GRCm39)	S535R	probably benign	Het
Tsc2	T	A	17: 24,839,740 (GRCm39)	N417I	probably damaging	Het
Ttn	T	C	2: 76,800,132 (GRCm39)	R359G	probably benign	Het
Vim	A	G	2: 13,587,296 (GRCm39)	T458A	probably benign	Het
Vps11	A	T	9: 44,265,221 (GRCm39)	S612R	probably benign	Het
Wdfy3	A	G	5: 102,032,004 (GRCm39)	S2273P	probably benign	Het
Wwox	G	T	8: 115,433,081 (GRCm39)	R249L	probably benign	Het
Zbtb4	G	T	11: 69,669,790 (GRCm39)	G838C	probably damaging	Het
Zkscan3	A	T	13: 21,580,461 (GRCm39)	C76S	probably damaging	Het
Znrf3	C	T	11: 5,231,776 (GRCm39)	C483Y	probably damaging	Het
Zscan2	A	G	7: 80,525,947 (GRCm39)	K556R	possibly 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
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
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'- TTGGTGACCTTCCTCCTGAG -3'
(R):5'- ACCCCTGAAGCATGAAGATG -3'

Sequencing Primer
(F):5'- GAGTTCAGAATTGAAGAATGTGTCCC -3'
(R):5'- CCCTGAAGCATGAAGATGACTTAATC -3'

Posted On

2017-06-26