Mutagenetix > Incidental Mutations

Incidental Mutation 'R9261:Tnrc6c'

702272

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 #

R9261 (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 A at 117714279 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 80 (V80E)

Ref Sequence

ENSEMBL: ENSMUSP00000026658 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026658
AA Change: V80E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026658
Gene: ENSMUSG00000025571
AA Change: V80E

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: V80E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101951
Gene: ENSMUSG00000025571
AA Change: V80E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	T	A	9: 51,291,698	H52L	probably benign	Het
Adamts7	A	G	9: 90,193,344	E1043G	probably benign	Het
Ahnak	A	G	19: 9,016,139	E4929G	possibly damaging	Het
Clca3a2	G	T	3: 144,819,397	H25N	probably benign	Het
Cubn	C	T	2: 13,278,451	D3559N	probably damaging	Het
Dmac2	T	A	7: 25,620,920	W15R	probably benign	Het
Dzank1	T	C	2: 144,513,424	E117G	probably benign	Het
Eml2	A	G	7: 19,179,818	T187A	probably benign	Het
Eml5	A	G	12: 98,856,028	V747A	probably damaging	Het
Esr1	T	A	10: 4,969,271	S454T	probably damaging	Het
Evc2	A	G	5: 37,380,551	T528A	probably benign	Het
Fbxo5	T	C	10: 5,802,325	N96S	probably damaging	Het
Fcnb	T	C	2: 28,079,624	T144A	probably damaging	Het
Gfm2	T	A	13: 97,162,861	Y363*	probably null	Het
Gm28710	T	C	5: 16,801,549	L88P	possibly damaging	Het
Grwd1	C	T	7: 45,825,957	R387Q	probably benign	Het
Gstt2	C	T	10: 75,833,677	D59N	possibly damaging	Het
Herc1	A	G	9: 66,504,847	N4783S	probably damaging	Het
Hydin	C	A	8: 110,267,415	A27E	unknown	Het
Ikbip	A	G	10: 91,096,387	T298A	possibly damaging	Het
Il1rap	A	G	16: 26,722,974	N655S	possibly damaging	Het
Kif21b	C	T	1: 136,149,424	R395C	probably damaging	Het
Kif3a	ATTGACG	A	11: 53,593,421		probably benign	Het
Klhl40	A	G	9: 121,779,936	D389G	probably benign	Het
Ly6g	A	G	15: 75,158,680	T116A	probably damaging	Het
Mast2	A	G	4: 116,308,703	L1276P	probably damaging	Het
Mitf	A	G	6: 98,013,743	Q369R	possibly damaging	Het
Mtus2	T	A	5: 148,306,643	Y192*	probably null	Het
Nav1	T	A	1: 135,460,357	E1109D	unknown	Het
Nav2	A	G	7: 49,597,156	E2143G	probably damaging	Het
Nedd4	A	G	9: 72,677,374	Q119R	possibly damaging	Het
Nek9	A	G	12: 85,313,067	V537A	probably damaging	Het
Notum	G	T	11: 120,660,148	T64K	probably damaging	Het
Nudcd2	A	G	11: 40,739,199	N144S	probably damaging	Het
Nup205	A	G	6: 35,199,857	E596G	probably benign	Het
Olfml1	T	A	7: 107,567,800	L12Q	possibly damaging	Het
Olfr1313	T	A	2: 112,072,373	D70V	probably damaging	Het
Olfr524	A	G	7: 140,202,650	V40A	probably benign	Het
Olfr639	C	T	7: 104,012,129	C191Y	probably damaging	Het
Olfr661	T	A	7: 104,688,053	F13I	probably benign	Het
Olfr668	A	T	7: 104,925,098	M222K	probably benign	Het
Ovgp1	T	C	3: 105,986,567		probably benign	Het
Padi4	T	C	4: 140,752,615	N409S	probably damaging	Het
Pam	T	A	1: 97,975,895	T38S	probably benign	Het
Piezo2	T	C	18: 63,075,797	I1382V	possibly damaging	Het
Pla2g12a	A	T	3: 129,890,431	Q153L	possibly damaging	Het
Pla2g4e	T	A	2: 120,189,429	H180L	probably benign	Het
Pprc1	A	G	19: 46,062,429	T169A	unknown	Het
Prrc2c	A	G	1: 162,678,053	I2592T	possibly damaging	Het
Ptchd3	T	A	11: 121,832,130	I348N	probably damaging	Het
Ralgps1	T	C	2: 33,336,559	D40G	probably damaging	Het
Rbm19	T	C	5: 120,118,745	F41S	probably damaging	Het
Rbsn	T	C	6: 92,189,816	M616V	probably benign	Het
Ryr1	A	T	7: 29,052,388	M3660K	possibly damaging	Het
Sidt2	A	T	9: 45,950,098	V246E	probably damaging	Het
Slc4a4	T	C	5: 89,199,709	W770R	probably damaging	Het
Spata31d1c	T	A	13: 65,036,866	S741T	probably damaging	Het
Stk19	T	G	17: 34,832,456	Y108S	possibly damaging	Het
Stox2	T	C	8: 47,192,406	E673G	possibly damaging	Het
Tax1bp1	T	A	6: 52,737,131	C271S	probably benign	Het
Tmem161a	C	A	8: 70,178,922	R167S	probably damaging	Het
Trpa1	G	A	1: 14,893,241	H586Y	probably damaging	Het
Tsr1	A	G	11: 74,908,230	T746A	probably damaging	Het
Uqcrfs1	T	C	13: 30,540,811	I249V	probably damaging	Het
Vmn2r84	C	A	10: 130,394,107	E45D	probably benign	Het
Vnn3	A	G	10: 23,865,709	E304G	probably damaging	Het
Zfp541	G	A	7: 16,082,104	V839M	possibly damaging	Het
Zfp62	A	G	11: 49,217,523	K814E	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
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
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'- TAAACAAGCAGTGCCTCCTCG -3'
(R):5'- CTTACCTTGTTGGAGCTTGC -3'

Sequencing Primer
(F):5'- AGTGCCTCCTCGGGTTG -3'
(R):5'- CTGGGATGTTGCTGTGCCC -3'

Posted On

2022-03-25