Mutagenetix > Incidental Mutations

Incidental Mutation 'R8971:Tnrc6c'

683117

Institutional Source

Beutler Lab

Gene Symbol

Tnrc6c

Ensembl Gene

ENSMUSG00000025571

Gene Name

trinucleotide repeat containing 6C

Synonyms

9930033H14Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8971 (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 C at 117749263 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1208 (I1208T)

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 damaging
Transcript: ENSMUST00000026658
AA Change: I1376T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026658
Gene: ENSMUSG00000025571
AA Change: I1376T

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: I1376T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101951
Gene: ENSMUSG00000025571
AA Change: I1376T

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: I1208T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115221
Gene: ENSMUSG00000025571
AA Change: I1208T

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: 99.9%
10x: 99.7%
20x: 99.0%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230112D13Rik	T	C	14: 34,514,426	H44R	unknown	Het
Acp6	C	T	3: 97,171,645	H254Y	probably damaging	Het
Acvrl1	A	G	15: 101,135,523	N97S	possibly damaging	Het
Afm	T	A	5: 90,548,816	V455E	probably damaging	Het
Ankrd44	G	T	1: 54,653,793	D927E	probably benign	Het
Ap2a2	T	C	7: 141,611,345	V275A	probably benign	Het
Arfgef2	A	T	2: 166,859,301	Q673L	probably damaging	Het
Atp6v0a2	T	C	5: 124,719,997	F814L	probably damaging	Het
Axdnd1	G	A	1: 156,391,946	A193V		Het
Bicra	T	A	7: 15,987,556	I679L	probably benign	Het
Ccm2l	G	A	2: 153,067,836	R36H	probably damaging	Het
Cd160	T	A	3: 96,805,786	D54V	probably damaging	Het
Cela3a	C	T	4: 137,405,911	G50D	probably benign	Het
Cep152	T	A	2: 125,579,850	R987*	probably null	Het
Cnnm2	T	C	19: 46,856,923	V618A	probably benign	Het
Crim1	G	A	17: 78,345,980	R593Q	possibly damaging	Het
Ctsc	A	G	7: 88,309,816	S435G	probably benign	Het
Dcbld1	G	T	10: 52,319,862	A460S	probably benign	Het
Dcbld2	A	G	16: 58,456,352	E502G	probably benign	Het
Dhx30	A	T	9: 110,084,445	L1207*	probably null	Het
Dlx2	A	T	2: 71,546,372	S7R	possibly damaging	Het
Dmwd	T	A	7: 19,081,048	I541N	probably damaging	Het
Dmxl1	T	G	18: 49,864,508	L588V	possibly damaging	Het
Dmxl1	C	T	18: 49,893,674	P1950S	probably damaging	Het
Dnhd1	T	A	7: 105,709,321	L3339*	probably null	Het
Elovl1	C	A	4: 118,431,512	P160Q	probably damaging	Het
Epg5	T	A	18: 77,979,219	L1059Q	probably damaging	Het
Fam149b	C	T	14: 20,352,709	S53F	probably benign	Het
Fat1	T	A	8: 45,042,294	C4140S	probably damaging	Het
Gria2	C	T	3: 80,707,893	V427I	probably damaging	Het
H2al2a	C	A	2: 17,996,726	A50S	probably damaging	Het
Hspbp1	T	C	7: 4,681,859	M132V	possibly damaging	Het
Igsf9	C	T	1: 172,484,466		probably benign	Het
Jup	C	T	11: 100,379,565	C372Y	probably damaging	Het
Katnb1	G	A	8: 95,096,359	R394Q	probably damaging	Het
Kif1b	A	T	4: 149,247,816	D553E	probably damaging	Het
Kif3a	T	A	11: 53,583,362	L251Q	probably damaging	Het
Klb	T	A	5: 65,375,683	I445K	probably damaging	Het
Klhl29	T	A	12: 5,140,710		probably null	Het
Lipf	A	G	19: 33,964,873	K68E	probably benign	Het
Lnx2	T	A	5: 147,033,426	I169L	probably benign	Het
Lrba	A	C	3: 86,615,081	I2223L	probably benign	Het
Lrp1	C	T	10: 127,556,027	D2890N	possibly damaging	Het
Lrp1b	T	C	2: 41,435,628	T926A		Het
Lrrc37a	T	A	11: 103,500,664	I1312F	probably benign	Het
Lrrc71	T	C	3: 87,739,846	H477R	possibly damaging	Het
Lrrc8e	T	C	8: 4,234,141	V122A	probably damaging	Het
Lsm14b	T	C	2: 180,025,314		probably null	Het
Magel2	A	C	7: 62,380,251	I968L	unknown	Het
Mapkbp1	T	C	2: 120,019,569	V771A	probably benign	Het
Mtmr4	T	C	11: 87,602,800	S295P	probably benign	Het
Nanos3	T	A	8: 84,176,186	T116S	probably benign	Het
Nectin3	T	C	16: 46,448,902	D379G	probably benign	Het
Nelfa	T	C	5: 33,936,195	H14R	possibly damaging	Het
Nnt	A	G	13: 119,366,431	W593R	unknown	Het
Nudt2	A	T	4: 41,477,575	M19L	probably benign	Het
Olfr1026	T	C	2: 85,923,984	S239P	probably damaging	Het
Olfr1220	T	A	2: 89,097,547	K127*	probably null	Het
Olfr153	T	A	2: 87,532,236	C68S	probably benign	Het
Olfr308	T	A	7: 86,321,161	I264F	possibly damaging	Het
Olfr656	A	T	7: 104,618,260	T194S	probably damaging	Het
Palld	A	T	8: 61,516,701	D1196E	unknown	Het
Parl	A	G	16: 20,298,159	L96P	probably damaging	Het
Pip4k2a	T	C	2: 18,847,556	D305G	probably benign	Het
Pkhd1l1	T	C	15: 44,529,519	V1750A	possibly damaging	Het
Prkdc	A	G	16: 15,675,365	E712G	probably null	Het
Rasgrf2	T	C	13: 92,021,717	E532G	possibly damaging	Het
Rbp3	T	A	14: 33,955,835	L580Q	probably damaging	Het
Ribc2	G	T	15: 85,132,136		probably benign	Het
Rmnd5b	T	C	11: 51,624,495	S315G	probably benign	Het
Rp1l1	T	A	14: 64,021,996	V29E	probably damaging	Het
Sclt1	T	C	3: 41,727,106	T93A	probably benign	Het
Shroom1	T	A	11: 53,465,167	L348H	probably damaging	Het
Slc13a1	T	C	6: 24,090,786	K545E	probably benign	Het
Slc20a2	C	T	8: 22,540,380	P151S	probably damaging	Het
Slc22a4	T	C	11: 53,988,892	Y447C	probably damaging	Het
Slu7	C	A	11: 43,442,653	Q367K	probably benign	Het
Spen	T	C	4: 141,474,578	N2246S	possibly damaging	Het
Tac4	T	G	11: 95,265,219	I42S	possibly damaging	Het
Tmem87a	A	G	2: 120,360,060	V530A		Het
Vmn1r230	C	T	17: 20,847,059	T170I	possibly damaging	Het
Vps29	A	G	5: 122,360,149	D51G	probably benign	Het
Washc2	T	C	6: 116,254,438	L874P	probably damaging	Het
Wdr5b	T	C	16: 36,041,556	L15P	probably benign	Het
Zscan20	T	A	4: 128,586,054	Q881H	probably damaging	Het
Zscan20	T	G	4: 128,586,055	Q881P	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
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
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
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'- GACATCATGCAGACGTCCTC -3'
(R):5'- CTTTCCACACAGGGAGTCCAAC -3'

Sequencing Primer
(F):5'- CGCACTTCAGGTCTGGTTCATG -3'
(R):5'- CACAGGGAGTCCAACCAGAG -3'

Posted On

2021-10-11