Mutagenetix > Incidental Mutation

Incidental Mutation 'R7315:Tnrc6c'

567904

Institutional Source

Beutler Lab

Gene Symbol

Tnrc6c

Ensembl Gene

ENSMUSG00000025571

Gene Name

trinucleotide repeat containing 6C

Synonyms

9930033H14Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7315 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117654289-117763439 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 117723528 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 837 (N837K)

Ref Sequence

ENSEMBL: ENSMUSP00000115221 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026658
AA Change: N997K

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000026658
Gene: ENSMUSG00000025571
AA Change: N997K

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 benign
Transcript: ENSMUST00000106344
AA Change: N997K

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101951
Gene: ENSMUSG00000025571
AA Change: N997K

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 benign
Transcript: ENSMUST00000138299
AA Change: N837K

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000115221
Gene: ENSMUSG00000025571
AA Change: N837K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	C	7: 120,294,118	I1264L	probably benign	Het
Abcg8	C	A	17: 84,696,714	D484E	probably damaging	Het
Abhd13	T	A	8: 9,987,970	L189H	probably damaging	Het
Acox2	T	C	14: 8,256,139	D60G	probably damaging	Het
Acpp	A	G	9: 104,316,224		probably null	Het
Agpat4	C	T	17: 12,210,298	R146C	probably damaging	Het
Antxrl	T	C	14: 34,071,547	S411P	unknown	Het
B4galt5	A	G	2: 167,301,376	V376A	probably damaging	Het
BB287469	A	G	12: 87,819,703	E128G	unknown	Het
Camk1d	T	C	2: 5,339,230	Y198C	probably damaging	Het
Cd1d1	C	T	3: 86,998,113	R191H	possibly damaging	Het
Cd93	A	G	2: 148,442,541	V295A	probably damaging	Het
Cdc27	G	A	11: 104,515,444	T615I	possibly damaging	Het
Cfap74	T	C	4: 155,463,019	Y1221H	unknown	Het
Col24a1	G	A	3: 145,431,870	S896N	possibly damaging	Het
Cst7	C	A	2: 150,570,583	P22Q	probably benign	Het
Dnah6	C	T	6: 73,084,760	A2781T	probably damaging	Het
Dscaml1	G	A	9: 45,745,125	A1588T	probably benign	Het
Dsg2	A	T	18: 20,579,160	I118F	probably damaging	Het
Eme2	G	A	17: 24,894,866	R62W	probably damaging	Het
Epha3	A	T	16: 63,552,609	D910E	probably benign	Het
Ext1	T	C	15: 53,073,387	D654G	probably damaging	Het
Fam46b	C	T	4: 133,487,084	T422I	probably damaging	Het
Fnip2	A	G	3: 79,506,205		probably null	Het
Gon4l	T	A	3: 88,895,179	H1032Q	probably benign	Het
Ispd	A	G	12: 36,390,374	T94A	probably benign	Het
Kitl	G	A	10: 100,016,112	R31H	unknown	Het
Lcp2	G	A	11: 34,069,906		probably null	Het
Lrp2	T	C	2: 69,491,822	H1921R	probably damaging	Het
Lvrn	A	G	18: 46,876,984	T400A	probably benign	Het
Mak16	G	A	8: 31,164,738	R143*	probably null	Het
Mettl23	A	G	11: 116,849,102	I159V	probably benign	Het
Mr1	T	C	1: 155,129,290	N335D	probably benign	Het
Muc2	T	C	7: 141,690,402	C12R	probably damaging	Het
Myom1	T	C	17: 71,080,897		probably null	Het
Nav2	A	G	7: 49,548,289	N33S	possibly damaging	Het
Ninl	A	G	2: 150,950,050	V851A	probably benign	Het
Nmt1	A	G	11: 103,060,183	N367D	probably benign	Het
Noc2l	T	G	4: 156,241,360	S354R	probably damaging	Het
Olfr104-ps	G	T	17: 37,362,660	C181F	probably damaging	Het
Olfr1302	T	C	2: 111,780,659	V113A	probably damaging	Het
Olfr151	T	C	9: 37,730,576	M136V	probably benign	Het
Olfr198	A	G	16: 59,202,133	F98L	probably benign	Het
Olfr293	T	C	7: 86,664,237	S192P	probably damaging	Het
Olfr70	T	A	4: 43,696,961	I71F	probably damaging	Het
Olfr860	G	T	9: 19,845,835	S261R	probably damaging	Het
Olfr877	A	T	9: 37,855,247	Y143F	probably benign	Het
Opn1sw	A	T	6: 29,379,363	I214N	probably damaging	Het
Papss2	T	C	19: 32,639,225	V217A	possibly damaging	Het
Pes1	A	G	11: 3,976,085	I291M	probably benign	Het
Pqlc2	G	A	4: 139,301,870	T101M	probably damaging	Het
Ptprb	T	A	10: 116,362,379	I1660N	possibly damaging	Het
Rapgef1	C	A	2: 29,734,492	T1030K	probably damaging	Het
Rassf8	A	G	6: 145,815,751	M268V	probably benign	Het
Rbl2	A	T	8: 91,076,012	T154S	probably damaging	Het
Rgs1	A	G	1: 144,248,899		probably null	Het
Rpgrip1	C	T	14: 52,121,001	T188I	not run	Het
Rrp1b	T	A	17: 32,058,571	F608L	probably benign	Het
Sbp	C	T	17: 23,945,306	A154V	probably benign	Het
Scara3	C	T	14: 65,931,440	E243K	probably damaging	Het
Serpinb6b	A	T	13: 32,972,257	D110V	probably benign	Het
Skiv2l	T	A	17: 34,841,169	D875V	probably benign	Het
Slc2a4	G	C	11: 69,946,433	T59R	probably damaging	Het
Slc4a1	A	G	11: 102,356,484	S462P	probably damaging	Het
Snx33	C	T	9: 56,925,867	R306H	probably damaging	Het
Srf	T	C	17: 46,551,794		probably null	Het
Steap3	A	G	1: 120,227,912	V439A	probably benign	Het
Syt10	C	T	15: 89,814,338	D268N	probably damaging	Het
Terf2	T	C	8: 107,081,217	N242S	probably benign	Het
Tex15	A	G	8: 33,581,516	T2364A	probably benign	Het
Tgfbr2	A	T	9: 116,109,738	H365Q	possibly damaging	Het
Trim67	T	A	8: 124,794,330	S144T	probably benign	Het
Zc3hav1l	T	G	6: 38,295,147	D229A	possibly damaging	Het
Zmym4	A	T	4: 126,882,592	V1184E	probably benign	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
R1901:Tnrc6c	UTSW	11	117723005	missense	probably damaging	0.98
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
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
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'- TGATGGTACCTCAGCTTGGG -3'
(R):5'- CCTCACTGTTGGAAGCATGATG -3'

Sequencing Primer
(F):5'- ATCCAGTCATCCAGAGCA -3'
(R):5'- TGGCAGTACTGAGCACACC -3'

Posted On

2019-06-26