Mutagenetix > Incidental Mutations

Incidental Mutation 'R5587:Tnrc6c'

438838

Institutional Source

Beutler Lab

Gene Symbol

Tnrc6c

Ensembl Gene

ENSMUSG00000025571

Gene Name

trinucleotide repeat containing 6C

Synonyms

9930033H14Rik

MMRRC Submission

043141-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5587 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117654289-117763439 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 117749271 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1211 (Q1211*)

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 null
Transcript: ENSMUST00000026658
AA Change: Q1379*

SMART Domains

Protein: ENSMUSP00000026658
Gene: ENSMUSG00000025571
AA Change: Q1379*

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 null
Transcript: ENSMUST00000106344
AA Change: Q1379*

SMART Domains

Protein: ENSMUSP00000101951
Gene: ENSMUSG00000025571
AA Change: Q1379*

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 null
Transcript: ENSMUST00000138299
AA Change: Q1211*

SMART Domains

Protein: ENSMUSP00000115221
Gene: ENSMUSG00000025571
AA Change: Q1211*

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: ENSMUST00000140347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141115

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141287

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

96% (78/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,065,409	R120G	probably benign	Het
4930548H24Rik	G	T	5: 31,486,084	G53W	probably benign	Het
Acad11	A	G	9: 104,063,767	T3A	probably benign	Het
Adamts18	G	A	8: 113,775,360	Q290*	probably null	Het
Ahnak	A	G	19: 9,009,476	D2708G	possibly damaging	Het
Asxl3	T	A	18: 22,525,247	C2105S	probably benign	Het
Atp8b1	A	T	18: 64,539,210	F1028I	probably damaging	Het
Axdnd1	C	G	1: 156,351,412	W615C	probably damaging	Het
Bcl3	A	T	7: 19,809,634	Y10*	probably null	Het
Bmp2	T	A	2: 133,554,646	V74E	possibly damaging	Het
Ccdc109b	A	C	3: 129,916,970	V271G	probably benign	Het
Ccdc78	C	A	17: 25,786,677	P21Q	probably benign	Het
Cluap1	T	A	16: 3,915,484	V199E	probably damaging	Het
Cntnap3	T	C	13: 64,746,738	E1120G	probably damaging	Het
Col1a2	T	A	6: 4,540,531	W1330R	unknown	Het
Coq4	A	G	2: 29,795,514		probably null	Het
Cwf19l1	G	A	19: 44,120,877	T346I	possibly damaging	Het
Cyct	T	C	2: 76,354,203	Y68C	probably damaging	Het
Dnah10	T	C	5: 124,793,913	L2368P	probably benign	Het
Dnah2	A	T	11: 69,437,242	F3346I	probably damaging	Het
Dpp3	A	T	19: 4,918,267	V259E	probably damaging	Het
Dpyd	A	C	3: 119,064,951	S605R	probably damaging	Het
Emc1	A	G	4: 139,362,148	E209G	probably damaging	Het
Esrra	A	G	19: 6,920,207	S61P	probably benign	Het
Fam71d	C	A	12: 78,715,075	P171H	probably damaging	Het
Gbx2	T	A	1: 89,933,122		probably benign	Het
Hepacam	A	G	9: 37,384,684	H377R	probably damaging	Het
Igkv12-46	T	C	6: 69,764,550	Y107C	probably damaging	Het
Intu	A	G	3: 40,675,308	D356G	probably damaging	Het
Izumo4	A	T	10: 80,703,220	N113Y	probably damaging	Het
Krt86	G	A	15: 101,473,593	A15T	probably benign	Het
Lhx8	A	T	3: 154,311,679	S275R	probably damaging	Het
Lingo3	A	T	10: 80,835,530	S189T	probably damaging	Het
Llgl1	T	A	11: 60,710,342	M702K	probably benign	Het
Lpin1	T	C	12: 16,573,714	Y223C		Het
Lrit3	G	T	3: 129,788,898	A359E	probably benign	Het
Lrp2	T	C	2: 69,499,263	E1720G	probably benign	Het
Nktr	C	T	9: 121,748,489		probably benign	Het
Olfr1342	T	A	4: 118,689,870	D194V	probably damaging	Het
Olfr1502	G	A	19: 13,862,576	R261H	probably damaging	Het
Olfr347	A	T	2: 36,734,621	Q100L	probably damaging	Het
Olfr617	T	A	7: 103,584,531	Y170N	probably benign	Het
Olfr979	A	T	9: 40,000,621	I202N	possibly damaging	Het
Olfr984	A	T	9: 40,101,244	L82Q	probably damaging	Het
Pcdha4	T	C	18: 36,954,822	V686A	probably benign	Het
Pelo	A	G	13: 115,089,873	V16A	possibly damaging	Het
Plcd1	A	G	9: 119,073,832	S539P	probably benign	Het
Prss1	A	G	6: 41,463,265	I179V	possibly damaging	Het
Ptgs2	T	C	1: 150,105,555	Y530H	probably damaging	Het
Rai1	T	C	11: 60,189,859	V1583A	probably damaging	Het
Raph1	T	G	1: 60,498,473	D508A	probably damaging	Het
Rmnd5a	A	G	6: 71,394,619		probably benign	Het
Rsf1	T	C	7: 97,662,121	L686P	probably benign	Het
Samd9l	T	C	6: 3,373,291	I1323M	possibly damaging	Het
Scn1a	T	C	2: 66,273,081	N1934S	probably benign	Het
Sec23ip	C	T	7: 128,750,427	H176Y	probably benign	Het
Sh3glb2	A	G	2: 30,354,851		probably null	Het
Sis	A	G	3: 72,914,576	I1384T	possibly damaging	Het
Spata31d1a	A	C	13: 59,702,618	C565W	probably damaging	Het
Srbd1	T	A	17: 86,127,801	Q278L	probably damaging	Het
Sry	T	C	Y: 2,662,625	H345R	unknown	Het
Suox	A	T	10: 128,671,825	D111E	probably damaging	Het
Taar7a	A	T	10: 23,992,828	F218L	probably benign	Het
Tfcp2l1	C	A	1: 118,664,762	N288K	possibly damaging	Het
Tmem128	G	T	5: 38,260,421	R7L	possibly damaging	Het
Tmem266	A	G	9: 55,437,566	N494S	probably damaging	Het
Tmprss3	T	A	17: 31,193,992	H80L	probably benign	Het
Tns1	T	A	1: 73,920,596	D1671V	possibly damaging	Het
Trmt1l	T	A	1: 151,435,704		probably benign	Het
Tshz2	A	T	2: 169,884,342	D286V	probably damaging	Het
Ttyh2	A	G	11: 114,675,659	E39G	probably benign	Het
Vmn2r125	G	A	4: 156,350,138	C73Y	probably damaging	Het
Vmn2r5	T	C	3: 64,504,076	D357G	probably damaging	Het
Vmn2r61	T	C	7: 42,300,487	F777S	probably damaging	Het
Vmn2r9	T	C	5: 108,847,561	E407G	probably damaging	Het
Vwa3a	A	G	7: 120,780,235	N521S	probably damaging	Het
Zan	C	G	5: 137,391,762	S4816T	unknown	Het
Zc3h7b	T	C	15: 81,771,858	Y136H	possibly damaging	Het
Zfp101	T	C	17: 33,381,321	K487R	possibly 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
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
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'- TTCCACACAGGGAGTCCAAC -3'

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

Posted On

2016-10-26