Mutagenetix > Incidental Mutation

Incidental Mutation 'R1901:Tnrc6c'

212243

Institutional Source

Beutler Lab

Gene Symbol

Tnrc6c

Ensembl Gene

ENSMUSG00000025571

Gene Name

trinucleotide repeat containing 6C

Synonyms

9930033H14Rik

MMRRC Submission

039921-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1901 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117654289-117763439 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117723005 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 823 (K823R)

Ref Sequence

ENSEMBL: ENSMUSP00000101951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026658] [ENSMUST00000106344] [ENSMUST00000138299]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026658
AA Change: K823R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026658
Gene: ENSMUSG00000025571
AA Change: K823R

Domain	Start	End	E-Value	Type
coiled coil region	1	32	N/A	INTRINSIC
low complexity region	37	58	N/A	INTRINSIC
low complexity region	110	132	N/A	INTRINSIC
low complexity region	248	257	N/A	INTRINSIC
low complexity region	298	318	N/A	INTRINSIC
low complexity region	394	408	N/A	INTRINSIC
low complexity region	440	457	N/A	INTRINSIC
internal_repeat_1	472	573	2.14e-5	PROSPERO
low complexity region	594	614	N/A	INTRINSIC
low complexity region	621	632	N/A	INTRINSIC
internal_repeat_2	639	704	5.49e-5	PROSPERO
internal_repeat_1	799	902	2.14e-5	PROSPERO
low complexity region	964	981	N/A	INTRINSIC
internal_repeat_2	991	1051	5.49e-5	PROSPERO
low complexity region	1063	1079	N/A	INTRINSIC
low complexity region	1111	1125	N/A	INTRINSIC
UBA	1145	1182	3.68e-4	SMART
Pfam:M_domain	1232	1459	6.8e-77	PFAM
Pfam:TNRC6-PABC_bdg	1468	1646	4.1e-75	PFAM
Pfam:TNRC6-PABC_bdg	1643	1722	3.7e-33	PFAM
RRM	1725	1792	1.81e-2	SMART
low complexity region	1813	1823	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106344
AA Change: K823R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101951
Gene: ENSMUSG00000025571
AA Change: K823R

Domain	Start	End	E-Value	Type
coiled coil region	1	32	N/A	INTRINSIC
low complexity region	37	58	N/A	INTRINSIC
low complexity region	110	132	N/A	INTRINSIC
low complexity region	248	257	N/A	INTRINSIC
low complexity region	298	318	N/A	INTRINSIC
low complexity region	394	408	N/A	INTRINSIC
low complexity region	440	457	N/A	INTRINSIC
internal_repeat_1	472	573	2.14e-5	PROSPERO
low complexity region	594	614	N/A	INTRINSIC
low complexity region	621	632	N/A	INTRINSIC
internal_repeat_2	639	704	5.49e-5	PROSPERO
internal_repeat_1	799	902	2.14e-5	PROSPERO
low complexity region	964	981	N/A	INTRINSIC
internal_repeat_2	991	1051	5.49e-5	PROSPERO
low complexity region	1063	1079	N/A	INTRINSIC
low complexity region	1111	1125	N/A	INTRINSIC
UBA	1145	1182	3.68e-4	SMART
Pfam:M_domain	1232	1459	6.8e-77	PFAM
Pfam:TNRC6-PABC_bdg	1468	1646	4.1e-75	PFAM
Pfam:TNRC6-PABC_bdg	1643	1722	3.7e-33	PFAM
RRM	1725	1792	1.81e-2	SMART
low complexity region	1813	1823	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138299
AA Change: K663R

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115221
Gene: ENSMUSG00000025571
AA Change: K663R

Domain	Start	End	E-Value	Type
low complexity region	88	97	N/A	INTRINSIC
low complexity region	138	158	N/A	INTRINSIC
low complexity region	234	248	N/A	INTRINSIC
low complexity region	280	297	N/A	INTRINSIC
internal_repeat_1	312	413	9.45e-5	PROSPERO
low complexity region	434	454	N/A	INTRINSIC
low complexity region	461	472	N/A	INTRINSIC
internal_repeat_1	639	742	9.45e-5	PROSPERO
low complexity region	804	821	N/A	INTRINSIC
low complexity region	903	919	N/A	INTRINSIC
low complexity region	951	965	N/A	INTRINSIC
UBA	985	1022	3.68e-4	SMART
Pfam:M_domain	1036	1293	1.7e-53	PFAM
low complexity region	1397	1406	N/A	INTRINSIC
PDB:3KTP\|B	1422	1443	7e-7	PDB
low complexity region	1507	1518	N/A	INTRINSIC
low complexity region	1531	1552	N/A	INTRINSIC
RRM	1557	1624	1.81e-2	SMART
low complexity region	1645	1655	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141115

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.2%
20x: 92.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap allele exhibit complete neonatal lethality with cyanosis, respiratory distress and thickened mesenchyme in air sacs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 120,346,099	E466G	probably damaging	Het
Acacb	A	T	5: 114,165,734	R73*	probably null	Het
Acta1	A	T	8: 123,893,161	S147T	probably benign	Het
Adh1	G	A	3: 138,288,797	V293I	probably benign	Het
Aldh3b3	T	C	19: 3,965,130	Y170H	probably damaging	Het
Ank3	A	T	10: 69,822,337	T198S	probably damaging	Het
Ankrd12	A	T	17: 65,986,703	N578K	possibly damaging	Het
Ano2	A	T	6: 125,872,684	E126D	probably damaging	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Arhgef7	C	A	8: 11,808,713		probably null	Het
Cfap44	A	C	16: 44,422,374	T714P	probably benign	Het
Cnot1	T	C	8: 95,743,121	I1369V	possibly damaging	Het
Col19a1	A	T	1: 24,536,997	I88K	unknown	Het
Col1a1	G	A	11: 94,946,632		probably null	Het
Col5a1	A	G	2: 27,960,444	T518A	unknown	Het
Cul7	T	C	17: 46,655,740	L365P	probably damaging	Het
Dlec1	T	C	9: 119,102,644	S44P	probably damaging	Het
Dock9	T	C	14: 121,625,153		probably null	Het
Flrt2	C	A	12: 95,779,130	P81T	probably damaging	Het
Flrt2	C	T	12: 95,779,131	P81L	probably damaging	Het
Ginm1	A	G	10: 7,775,216		probably null	Het
Glis3	T	C	19: 28,531,585	N333S	probably damaging	Het
Glo1	T	G	17: 30,596,408	E144D	probably benign	Het
Golga1	A	T	2: 39,047,780		probably null	Het
H2-Aa	A	G	17: 34,283,233	I155T	possibly damaging	Het
Haus5	A	G	7: 30,657,245	S479P	probably damaging	Het
Il10ra	A	T	9: 45,256,356	V299D	probably benign	Het
Il17re	T	C	6: 113,469,704	V472A	probably damaging	Het
Il22ra1	A	T	4: 135,750,908	Q430L	probably damaging	Het
Il23r	A	C	6: 67,423,734	D537E	probably benign	Het
Inppl1	T	C	7: 101,823,377	E1237G	possibly damaging	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Klhl35	T	C	7: 99,470,220	L304P	probably damaging	Het
Krt78	A	T	15: 101,946,963	C804*	probably null	Het
Lrrc29	T	C	8: 105,313,075	N556S	probably damaging	Het
Med15	G	T	16: 17,673,154		probably benign	Het
Mettl25	A	G	10: 105,826,087	S341P	probably damaging	Het
Mroh1	A	G	15: 76,436,049	T1008A	probably benign	Het
Mug1	A	G	6: 121,881,821	D1166G	probably benign	Het
Mug2	C	A	6: 122,071,842	H856N	probably benign	Het
Naca	T	A	10: 128,043,721		probably benign	Het
Nagk	G	T	6: 83,799,354	V184F	probably damaging	Het
Nav1	T	G	1: 135,472,410	N474T	probably benign	Het
Ncor2	T	A	5: 125,025,425	H2089L	probably benign	Het
Nek6	A	G	2: 38,582,446	I261V	probably damaging	Het
Neurod2	G	A	11: 98,327,732	T202M	probably damaging	Het
Nlgn2	A	G	11: 69,825,900	V605A	probably damaging	Het
Nlrp5	A	C	7: 23,423,910	E732A	possibly damaging	Het
Nt5dc1	A	T	10: 34,313,671	V340D	probably damaging	Het
Ntn4	A	G	10: 93,707,372	D320G	possibly damaging	Het
Olfr119	T	A	17: 37,701,421	H250Q	probably damaging	Het
Olfr209	A	T	16: 59,362,163	D18E	probably benign	Het
Olfr417	A	T	1: 174,369,168	I84L	probably benign	Het
Olfr625-ps1	T	C	7: 103,683,543	I265T	probably damaging	Het
Olfr685	A	G	7: 105,180,872	I162T	possibly damaging	Het
Osbpl5	T	C	7: 143,703,181	D404G	possibly damaging	Het
Pcdhb12	T	A	18: 37,437,630	W610R	possibly damaging	Het
Pias2	T	A	18: 77,097,443	C66*	probably null	Het
Plec	T	A	15: 76,175,551	E3417D	probably damaging	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,937,781		probably benign	Het
Ppp1r12a	T	A	10: 108,198,891	I99N	probably damaging	Het
Prpf8	T	G	11: 75,504,744	V1899G	probably damaging	Het
Prr13	C	A	15: 102,460,698		probably benign	Het
Ptchd4	A	T	17: 42,503,616	I803L	probably benign	Het
R3hdm2	T	C	10: 127,498,468	I947T	possibly damaging	Het
Raet1d	A	G	10: 22,371,451	D142G	probably damaging	Het
Rbbp8nl	C	T	2: 180,283,313	R33Q	probably damaging	Het
Robo1	A	G	16: 72,960,204	Q351R	probably null	Het
Rptn	A	T	3: 93,396,710	H450L	possibly damaging	Het
Scn11a	T	A	9: 119,779,036	K1010*	probably null	Het
Slc16a10	G	A	10: 40,056,606	Q33*	probably null	Het
Slc31a1	C	T	4: 62,385,605		probably benign	Het
Slc34a1	A	T	13: 55,401,150	K138*	probably null	Het
Slc6a18	T	A	13: 73,670,043	E285V	probably benign	Het
Slco6c1	T	A	1: 97,072,982	T515S	probably damaging	Het
Snrnp40	T	A	4: 130,385,975	S295T	probably damaging	Het
Snx4	A	T	16: 33,284,438	Y252F	possibly damaging	Het
Spata18	T	A	5: 73,671,139	F348I	probably damaging	Het
Spef2	G	T	15: 9,607,377	R1319S	probably damaging	Het
Tas2r125	T	C	6: 132,910,176	F176L	probably benign	Het
Tcp10b	A	G	17: 13,081,626	K399E	possibly damaging	Het
Tcstv3	A	G	13: 120,317,724	H53R	probably damaging	Het
Trim31	A	G	17: 36,901,800	E221G	probably benign	Het
Trim47	T	A	11: 116,107,779	Q338L	probably damaging	Het
Tubgcp6	C	A	15: 89,116,241	R307L	possibly damaging	Het
Usp9y	A	G	Y: 1,303,371		probably null	Het
Utp20	G	T	10: 88,753,026	T2427K	probably benign	Het
Vldlr	T	C	19: 27,241,309	V147A	probably damaging	Het
Vmn1r115	C	T	7: 20,844,273	R238H	probably benign	Het
Vmn1r175	C	A	7: 23,808,793	R136S	probably benign	Het
Vmn1r53	A	G	6: 90,224,286	S19P	possibly damaging	Het
Vwa5b2	G	T	16: 20,604,832	S1165I	possibly damaging	Het
Zfp362	G	T	4: 128,790,276	P13T	probably damaging	Het
Zfp825	A	G	13: 74,480,945	C151R	probably damaging	Het

Other mutations in Tnrc6c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Tnrc6c	APN	11	117714185	missense	possibly damaging	0.91
IGL01013:Tnrc6c	APN	11	117722029	missense	probably benign	0.44
IGL01092:Tnrc6c	APN	11	117721985	missense	probably damaging	0.99
IGL01383:Tnrc6c	APN	11	117714257	missense	probably benign	0.37
IGL01395:Tnrc6c	APN	11	117723113	missense	probably benign	0.08
IGL01726:Tnrc6c	APN	11	117749335	splice site	probably benign
IGL01869:Tnrc6c	APN	11	117755448	missense	possibly damaging	0.65
IGL02108:Tnrc6c	APN	11	117721199	missense	probably benign	0.29
IGL02457:Tnrc6c	APN	11	117722977	missense	probably benign	0.28
IGL02612:Tnrc6c	APN	11	117743000	missense	possibly damaging	0.95
IGL02748:Tnrc6c	APN	11	117732170	missense	probably benign	0.00
IGL03160:Tnrc6c	APN	11	117749825	splice site	probably benign
rodion	UTSW	11	117738350	critical splice donor site	probably null
F5770:Tnrc6c	UTSW	11	117723326	missense	probably damaging	1.00
K3955:Tnrc6c	UTSW	11	117760738	missense	probably damaging	0.99
R0015:Tnrc6c	UTSW	11	117721458	missense	probably damaging	0.98
R0143:Tnrc6c	UTSW	11	117752985	missense	probably damaging	1.00
R0277:Tnrc6c	UTSW	11	117739881	missense	probably damaging	1.00
R0323:Tnrc6c	UTSW	11	117739881	missense	probably damaging	1.00
R0464:Tnrc6c	UTSW	11	117760549	missense	probably damaging	1.00
R0699:Tnrc6c	UTSW	11	117722621	missense	probably benign	0.02
R1015:Tnrc6c	UTSW	11	117721922	missense	possibly damaging	0.89
R1201:Tnrc6c	UTSW	11	117721674	missense	probably damaging	0.96
R1297:Tnrc6c	UTSW	11	117733703	missense	possibly damaging	0.52
R1560:Tnrc6c	UTSW	11	117759637	missense	probably damaging	1.00
R1596:Tnrc6c	UTSW	11	117758041	missense	probably damaging	1.00
R1758:Tnrc6c	UTSW	11	117760730	missense	probably benign	0.09
R1892:Tnrc6c	UTSW	11	117714362	missense	probably benign
R1935:Tnrc6c	UTSW	11	117756023	missense	possibly damaging	0.91
R1936:Tnrc6c	UTSW	11	117756023	missense	possibly damaging	0.91
R1937:Tnrc6c	UTSW	11	117756023	missense	possibly damaging	0.91
R1940:Tnrc6c	UTSW	11	117756023	missense	possibly damaging	0.91
R3622:Tnrc6c	UTSW	11	117749625	missense	probably damaging	1.00
R3711:Tnrc6c	UTSW	11	117723124	missense	probably benign	0.00
R3725:Tnrc6c	UTSW	11	117723529	missense	probably damaging	0.96
R3775:Tnrc6c	UTSW	11	117723529	missense	probably damaging	0.96
R3776:Tnrc6c	UTSW	11	117723529	missense	probably damaging	0.96
R3836:Tnrc6c	UTSW	11	117723229	missense	probably benign	0.20
R3844:Tnrc6c	UTSW	11	117755483	missense	probably damaging	1.00
R3852:Tnrc6c	UTSW	11	117723529	missense	probably damaging	0.96
R3928:Tnrc6c	UTSW	11	117723529	missense	probably damaging	0.96
R3929:Tnrc6c	UTSW	11	117723529	missense	probably damaging	0.96
R3937:Tnrc6c	UTSW	11	117723529	missense	probably damaging	0.96
R3943:Tnrc6c	UTSW	11	117723529	missense	probably damaging	0.96
R4501:Tnrc6c	UTSW	11	117722498	missense	probably damaging	1.00
R4510:Tnrc6c	UTSW	11	117742958	missense	possibly damaging	0.68
R4511:Tnrc6c	UTSW	11	117742958	missense	possibly damaging	0.68
R4654:Tnrc6c	UTSW	11	117720971	missense	probably benign
R4765:Tnrc6c	UTSW	11	117742927	missense	probably benign	0.09
R4824:Tnrc6c	UTSW	11	117722905	missense	probably damaging	0.98
R5004:Tnrc6c	UTSW	11	117721046	missense	probably benign	0.44
R5094:Tnrc6c	UTSW	11	117721046	missense	probably benign	0.00
R5130:Tnrc6c	UTSW	11	117738350	critical splice donor site	probably null
R5234:Tnrc6c	UTSW	11	117760729	missense	probably benign	0.42
R5235:Tnrc6c	UTSW	11	117760729	missense	probably benign	0.42
R5345:Tnrc6c	UTSW	11	117723287	missense	possibly damaging	0.80
R5359:Tnrc6c	UTSW	11	117758905	splice site	silent
R5428:Tnrc6c	UTSW	11	117700762	start codon destroyed	probably null
R5548:Tnrc6c	UTSW	11	117760843	missense	possibly damaging	0.96
R5587:Tnrc6c	UTSW	11	117749271	nonsense	probably null
R5875:Tnrc6c	UTSW	11	117759708	missense	probably damaging	0.99
R5947:Tnrc6c	UTSW	11	117722519	missense	probably damaging	1.00
R6135:Tnrc6c	UTSW	11	117736005	missense	probably damaging	0.97
R6354:Tnrc6c	UTSW	11	117749614	missense	possibly damaging	0.90
R6389:Tnrc6c	UTSW	11	117722741	missense	probably damaging	0.99
R7027:Tnrc6c	UTSW	11	117733618	missense	probably damaging	1.00
R7048:Tnrc6c	UTSW	11	117721974	missense	probably benign	0.41
R7098:Tnrc6c	UTSW	11	117714126	missense	probably benign	0.03
R7315:Tnrc6c	UTSW	11	117723528	missense	probably benign	0.11
R7378:Tnrc6c	UTSW	11	117741780	missense	probably benign	0.03
R7386:Tnrc6c	UTSW	11	117721954	missense	probably benign
R7515:Tnrc6c	UTSW	11	117741681	missense	probably benign	0.03
R7665:Tnrc6c	UTSW	11	117720951	missense	possibly damaging	0.46
R7755:Tnrc6c	UTSW	11	117758086	missense	probably benign	0.00
R8679:Tnrc6c	UTSW	11	117714135	missense	probably benign
R8824:Tnrc6c	UTSW	11	117739854	splice site	probably benign
R8971:Tnrc6c	UTSW	11	117749263	missense	possibly damaging	0.95
R9261:Tnrc6c	UTSW	11	117714279	missense	probably damaging	0.99
R9283:Tnrc6c	UTSW	11	117700804	missense	unknown
R9342:Tnrc6c	UTSW	11	117739894	missense	probably benign	0.01
R9633:Tnrc6c	UTSW	11	117747183	missense	probably damaging	1.00
R9761:Tnrc6c	UTSW	11	117732310	missense	probably benign
V7580:Tnrc6c	UTSW	11	117723326	missense	probably damaging	1.00
V7581:Tnrc6c	UTSW	11	117723326	missense	probably damaging	1.00
V7582:Tnrc6c	UTSW	11	117723326	missense	probably damaging	1.00
V7583:Tnrc6c	UTSW	11	117723326	missense	probably damaging	1.00
Z1176:Tnrc6c	UTSW	11	117732177	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- GGGGACTCAATAAGCTCTACTGC -3'
(R):5'- GCTTATGAGCCCAGTTCTGC -3'

Sequencing Primer
(F):5'- ACTGCTGTTAACAATGCTGCTG -3'
(R):5'- CCTTAGCATTTGTGCCAC -3'

Posted On

2014-06-30