Mutagenetix > Incidental Mutations

Incidental Mutation 'R5234:Tnrc6c'

398234

Institutional Source

Beutler Lab

Gene Symbol

Tnrc6c

Ensembl Gene

ENSMUSG00000025571

Gene Name

trinucleotide repeat containing 6C

Synonyms

9930033H14Rik

MMRRC Submission

042806-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5234 (G1)

Quality Score

152

Status

Not validated

Chromosome

Chromosomal Location

117654289-117763439 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 117760729 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 1693 (V1693F)

Ref Sequence

ENSEMBL: ENSMUSP00000115221 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000026658
AA Change: V1861F

PolyPhen 2 Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000026658
Gene: ENSMUSG00000025571
AA Change: V1861F

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: V1861F

PolyPhen 2 Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101951
Gene: ENSMUSG00000025571
AA Change: V1861F

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: V1693F

PolyPhen 2 Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115221
Gene: ENSMUSG00000025571
AA Change: V1693F

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,263,664	T2132M	probably damaging	Het
Abca8b	A	T	11: 109,976,594	F213I	possibly damaging	Het
Acot11	C	T	4: 106,760,130	G240R	probably damaging	Het
Adamts6	A	G	13: 104,493,622	Y1091C	probably damaging	Het
Adamtsl4	T	C	3: 95,680,920	M586V	probably benign	Het
Anapc4	T	C	5: 52,848,776	S336P	probably damaging	Het
Atp1a4	A	T	1: 172,227,170	I964K	possibly damaging	Het
Bcan	A	T	3: 87,996,146	D246E	probably damaging	Het
Ccnf	G	A	17: 24,234,437	R343*	probably null	Het
Col6a5	T	C	9: 105,864,205	H2505R	probably damaging	Het
Dlg5	T	A	14: 24,192,862	M72L	probably damaging	Het
Dnajc18	T	C	18: 35,683,298	T196A	probably benign	Het
Dnajc19	T	A	3: 34,057,959	I146F	probably benign	Het
Espnl	A	G	1: 91,344,793	D581G	probably benign	Het
Fam167a	T	C	14: 63,452,338	L28P	probably damaging	Het
Fam71d	T	A	12: 78,715,271	Y236*	probably null	Het
Fra10ac1	T	C	19: 38,215,846	D94G	probably damaging	Het
Fut8	A	G	12: 77,332,230	H35R	probably benign	Het
Gad1-ps	T	A	10: 99,445,326		noncoding transcript	Het
Idh2	A	T	7: 80,096,105	V333E	probably damaging	Het
Inpp5f	A	G	7: 128,663,683	I121V	probably benign	Het
Itga1	A	T	13: 115,049,303	Y54*	probably null	Het
Lax1	A	G	1: 133,680,583	V140A	probably benign	Het
Ncoa6	A	G	2: 155,438,013	F28L	probably benign	Het
Olfr1145	T	C	2: 87,810,768	V316A	probably benign	Het
Olfr357	T	C	2: 36,997,095	V95A	probably benign	Het
Polr2a	T	C	11: 69,736,840	I1414V	probably benign	Het
Ppp1r14b	A	G	19: 6,976,859	E115G	possibly damaging	Het
Prune2	A	G	19: 17,118,668	D512G	probably damaging	Het
Psmd11	A	G	11: 80,428,740	I19V	probably benign	Het
Pthlh	C	A	6: 147,257,094	G123W	probably damaging	Het
Qars	T	A	9: 108,514,165	L572Q	probably damaging	Het
Rubcn	T	C	16: 32,836,458	I516V	probably damaging	Het
Sgsm3	A	T	15: 81,007,944	S238C	probably damaging	Het
Slc25a22	C	A	7: 141,434,203		probably benign	Het
Slc4a1	G	A	11: 102,361,383	R5W	probably benign	Het
Tie1	G	A	4: 118,482,762	T356I	probably benign	Het
Tnn	A	T	1: 160,144,999	H344Q	possibly damaging	Het
Topaz1	C	T	9: 122,790,193	T1285M	possibly damaging	Het
Trank1	A	T	9: 111,386,467	S1822C	probably damaging	Het
Ttll11	A	C	2: 35,940,733	Y209D	probably damaging	Het
Unc45a	C	G	7: 80,328,799	A634P	probably benign	Het
Vmn2r4	C	T	3: 64,398,457	V515I	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
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
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'- AAGAAGTGAACCGGTTCCTGG -3'
(R):5'- TCATCTTCAGACTGGACAGAGG -3'

Sequencing Primer
(F):5'- AACCGGTTCCTGGCCCAAG -3'
(R):5'- TACTCCAAGGGGCAGCTTGTC -3'

Posted On

2016-07-06