Mutagenetix > Incidental Mutation

Incidental Mutation 'R6886:Tnrc6a'

536954

Institutional Source

Beutler Lab

Gene Symbol

Tnrc6a

Ensembl Gene

ENSMUSG00000052707

Gene Name

trinucleotide repeat containing 6a

Synonyms

3110054G10Rik, 2010321I05Rik, Tnrc6, CAGH26, D130023A07Rik

MMRRC Submission

044980-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R6886 (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 122786668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1577 (S1577T)

Ref Sequence

ENSEMBL: ENSMUSP00000091595 (fasta)

Gene Model

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

AlphaFold

Q3UHK8

Predicted Effect

probably benign
Transcript: ENSMUST00000094053
AA Change: S1577T

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000091595
Gene: ENSMUSG00000052707
AA Change: S1577T

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: 99.3%
20x: 97.7%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp7b	A	T	8: 22,518,706 (GRCm39)	M44K	probably benign	Het
Bad	T	C	19: 6,928,702 (GRCm39)		probably benign	Het
Bbs12	A	G	3: 37,373,390 (GRCm39)	D61G	probably damaging	Het
Bcr	C	T	10: 74,989,769 (GRCm39)	R722C	probably damaging	Het
Carf	C	A	1: 60,175,413 (GRCm39)		probably null	Het
Ccdc181	A	G	1: 164,107,665 (GRCm39)	E116G	probably damaging	Het
Celsr1	A	G	15: 85,915,855 (GRCm39)	V706A	probably benign	Het
Col9a1	T	A	1: 24,224,426 (GRCm39)	S203T	unknown	Het
Ctsl	T	C	13: 64,512,961 (GRCm39)		probably null	Het
Exosc7	A	T	9: 122,965,023 (GRCm39)	E277D	probably benign	Het
Fam20b	A	T	1: 156,518,081 (GRCm39)	W238R	probably damaging	Het
Fanci	A	T	7: 79,070,090 (GRCm39)	H430L	possibly damaging	Het
Fstl4	A	G	11: 53,077,277 (GRCm39)	D678G	probably damaging	Het
Gm10801	TC	TCGGC	2: 98,494,151 (GRCm39)		probably benign	Het
Gm11569	T	A	11: 99,689,247 (GRCm39)		probably benign	Het
Igfn1	G	A	1: 135,901,198 (GRCm39)	R306W	probably damaging	Het
Il6	C	T	5: 30,223,201 (GRCm39)		probably benign	Het
Khdc1c	T	C	1: 21,439,749 (GRCm39)	L100P	possibly damaging	Het
Kif18a	G	A	2: 109,127,008 (GRCm39)	R314H	probably damaging	Het
Kif26b	A	C	1: 178,701,703 (GRCm39)	K694T	probably damaging	Het
Kndc1	A	G	7: 139,493,485 (GRCm39)	T484A	probably benign	Het
Lonrf1	T	C	8: 36,696,191 (GRCm39)		probably null	Het
Man1a2	C	T	3: 100,563,387 (GRCm39)	G169D	probably benign	Het
Med6	G	T	12: 81,638,159 (GRCm39)	D17E	probably damaging	Het
Neb	T	C	2: 52,110,236 (GRCm39)	K204R	probably damaging	Het
Nhlrc1	T	A	13: 47,167,252 (GRCm39)	N335I	possibly damaging	Het
Nlrp12	T	C	7: 3,289,313 (GRCm39)	M400V	probably benign	Het
Or7e173	G	T	9: 19,938,428 (GRCm39)	H269N	probably benign	Het
Or8k22	A	T	2: 86,163,408 (GRCm39)	C97*	probably null	Het
Pkhd1	C	T	1: 20,417,504 (GRCm39)	S2549N	probably benign	Het
Pramel26	A	G	4: 143,539,332 (GRCm39)	F54L	probably benign	Het
Rab4b	A	C	7: 26,872,381 (GRCm39)	L145R	probably damaging	Het
Rad50	T	C	11: 53,577,011 (GRCm39)	I526V	probably benign	Het
Rel	T	C	11: 23,694,304 (GRCm39)	H309R	probably benign	Het
Rnf2	G	T	1: 151,349,017 (GRCm39)	N34K	possibly damaging	Het
Serpina3m	G	T	12: 104,355,386 (GRCm39)	V18F	possibly damaging	Het
Serpinb9c	T	C	13: 33,334,310 (GRCm39)	K244R	probably benign	Het
Setbp1	T	A	18: 78,900,715 (GRCm39)	Y984F	probably damaging	Het
Slc12a5	T	A	2: 164,824,825 (GRCm39)	M410K	probably benign	Het
Smarca4	C	T	9: 21,570,127 (GRCm39)	A710V	probably damaging	Het
Snx19	C	A	9: 30,340,231 (GRCm39)	D456E	probably damaging	Het
Ssrp1	T	A	2: 84,870,280 (GRCm39)	D101E	probably benign	Het
Tax1bp1	A	T	6: 52,710,208 (GRCm39)	E162D	probably benign	Het
Tenm4	T	A	7: 96,446,599 (GRCm39)	M823K	possibly damaging	Het
Tesk1	A	G	4: 43,443,592 (GRCm39)	D53G	possibly damaging	Het
Tpr	A	G	1: 150,299,716 (GRCm39)	I1270V	probably benign	Het
Trp53bp2	T	C	1: 182,256,608 (GRCm39)		probably null	Het
Ube4a	A	T	9: 44,860,141 (GRCm39)	I307N	probably damaging	Het
Unc13b	A	G	4: 43,170,156 (GRCm39)		probably benign	Het
Vmn2r3	T	C	3: 64,166,927 (GRCm39)	K735E	probably damaging	Het
Vmn2r54	A	G	7: 12,366,080 (GRCm39)	F285L	probably benign	Het
Vmn2r81	T	G	10: 79,103,988 (GRCm39)	S204A	possibly damaging	Het
Washc1	A	G	17: 66,426,061 (GRCm39)	D453G	probably damaging	Het
Zfp329	T	A	7: 12,544,025 (GRCm39)	I500L	probably benign	Het
Zfp516	A	G	18: 82,975,125 (GRCm39)	D441G	probably benign	Het
Zfp644	T	C	5: 106,785,777 (GRCm39)	T257A	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
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
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'- TATGTTGTTACCAGCCTGGCC -3'
(R):5'- GAATGGATTGAAGGGGCTGTCC -3'

Sequencing Primer
(F):5'- TACCAGCCTGGCCTTTTAGGG -3'
(R):5'- AAGGGGCTGTCCTGTGC -3'

Posted On

2018-10-18