Mutagenetix > Incidental Mutation

Incidental Mutation 'R5805:Tnrc6a'

448448

Institutional Source

Beutler Lab

Gene Symbol

Tnrc6a

Ensembl Gene

ENSMUSG00000052707

Gene Name

trinucleotide repeat containing 6a

Synonyms

3110054G10Rik, 2010321I05Rik, Tnrc6, CAGH26, D130023A07Rik

MMRRC Submission

043212-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.850) question?

Stock #

R5805 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122723108-122794519 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122769299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 363 (L363P)

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: L363P

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091595
Gene: ENSMUSG00000052707
AA Change: L363P

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

probably benign
Transcript: ENSMUST00000205760

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205789

Predicted Effect

probably benign
Transcript: ENSMUST00000206014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211170

Predicted Effect

probably benign
Transcript: ENSMUST00000206888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206922

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	C	T	11: 110,170,216 (GRCm39)	C1293Y	probably benign	Het
Adam8	T	A	7: 139,565,794 (GRCm39)	D611V	probably damaging	Het
Arhgap33	T	C	7: 30,225,839 (GRCm39)	T576A	probably benign	Het
Atf7	A	T	15: 102,466,022 (GRCm39)		probably null	Het
Baiap3	T	A	17: 25,466,489 (GRCm39)	T464S	probably benign	Het
Ccdc40	T	C	11: 119,136,906 (GRCm39)		probably null	Het
Celf2	T	C	2: 6,558,598 (GRCm39)	E430G	probably damaging	Het
Chia1	A	G	3: 106,035,792 (GRCm39)	T211A	probably damaging	Het
Ciz1	T	C	2: 32,257,408 (GRCm39)	F151S	probably damaging	Het
Dnm2	A	G	9: 21,378,965 (GRCm39)	T175A	probably damaging	Het
Doc2b	A	G	11: 75,663,364 (GRCm39)	S363P	probably damaging	Het
Garem1	C	T	18: 21,281,492 (GRCm39)	R288H	probably benign	Het
Gpr132	G	A	12: 112,816,416 (GRCm39)	R137C	probably damaging	Het
Helz2	C	A	2: 180,882,301 (GRCm39)	C164F	probably damaging	Het
Itfg1	A	T	8: 86,493,601 (GRCm39)	S293T	probably benign	Het
Kcnn2	T	A	18: 45,816,198 (GRCm39)	D336E	probably damaging	Het
Kifc2	C	T	15: 76,546,353 (GRCm39)	A245V	probably benign	Het
Krt18	T	A	15: 101,939,735 (GRCm39)	I311N	probably benign	Het
Lypla1	T	C	1: 4,900,517 (GRCm39)	M7T	possibly damaging	Het
Mef2a	T	C	7: 66,901,416 (GRCm39)	M285V	possibly damaging	Het
Micu1	A	C	10: 59,663,128 (GRCm39)	K353Q	possibly damaging	Het
Mpv17l	A	G	16: 13,760,013 (GRCm39)		probably benign	Het
Ntrk1	G	A	3: 87,687,479 (GRCm39)	R652W	probably damaging	Het
Or13a28	T	A	7: 140,218,384 (GRCm39)	F257I	probably benign	Het
Or13c7	T	C	4: 43,855,152 (GRCm39)	I281T	probably benign	Het
Or4c107	G	A	2: 88,788,985 (GRCm39)	M58I	possibly damaging	Het
Pcdh15	C	A	10: 74,066,091 (GRCm39)	T252K	probably damaging	Het
Pcsk5	T	C	19: 17,434,193 (GRCm39)	M1392V	probably benign	Het
Phf20	T	A	2: 156,149,214 (GRCm39)	V964E	probably damaging	Het
Pira13	G	A	7: 3,825,622 (GRCm39)	L416F	probably benign	Het
Plcg2	T	C	8: 118,325,234 (GRCm39)		probably null	Het
Rnf10	A	T	5: 115,382,127 (GRCm39)	C693S	probably benign	Het
Rnf19b	A	G	4: 128,952,617 (GRCm39)	Y185C	probably damaging	Het
Ros1	G	T	10: 51,999,385 (GRCm39)	D1167E	probably damaging	Het
Sidt2	G	A	9: 45,853,497 (GRCm39)	S701L	probably damaging	Het
Slc66a2	C	T	18: 80,306,658 (GRCm39)	P76L	probably damaging	Het
Spag1	T	C	15: 36,200,430 (GRCm39)	I345T	probably damaging	Het
Srcap	T	A	7: 127,141,211 (GRCm39)	S1603T	possibly damaging	Het
Stag1	T	A	9: 100,678,831 (GRCm39)	Y251N	probably damaging	Het
Stxbp5	T	C	10: 9,776,330 (GRCm39)	N33S	probably benign	Het
U2surp	C	T	9: 95,361,357 (GRCm39)	R591H	possibly damaging	Het
Usf3	A	G	16: 44,041,109 (GRCm39)	N1863S	possibly damaging	Het
Vmn2r15	T	C	5: 109,434,806 (GRCm39)	I633V	possibly damaging	Het
Zfp979	T	C	4: 147,698,067 (GRCm39)	D214G	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
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
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'- GCAGCAATAATGTGGGCCATG -3'
(R):5'- ACCACTTACTTCAGGCTCAC -3'

Sequencing Primer
(F):5'- CCATGGAAGTAGTACTGGCCCATG -3'
(R):5'- TCAGGCTCACAAGTTTCCTGAAGG -3'

Posted On

2016-12-15