Mutagenetix > Incidental Mutation

Incidental Mutation 'R3852:Tnrc6c'

275985

Institutional Source

Beutler Lab

Gene Symbol

Tnrc6c

Ensembl Gene

ENSMUSG00000025571

Gene Name

trinucleotide repeat containing 6C

Synonyms

9930033H14Rik

MMRRC Submission

040784-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3852 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117545115-117654265 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 117614355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 838 (R838W)

Ref Sequence

ENSEMBL: ENSMUSP00000115221 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026658
AA Change: R998W

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026658
Gene: ENSMUSG00000025571
AA Change: R998W

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: ENSMUST00000106344
AA Change: R998W

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101951
Gene: ENSMUSG00000025571
AA Change: R998W

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: ENSMUST00000138299
AA Change: R838W

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115221
Gene: ENSMUSG00000025571
AA Change: R838W

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

96% (45/47)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	C	16: 20,379,189 (GRCm39)	V685A	probably damaging	Het
Abhd4	T	C	14: 54,502,824 (GRCm39)	Y44H	probably damaging	Het
AI429214	A	G	8: 37,461,596 (GRCm39)	D248G	probably damaging	Het
Aoc1l3	C	T	6: 48,964,928 (GRCm39)	P312L	possibly damaging	Het
AY358078	A	G	14: 52,043,010 (GRCm39)	T233A	unknown	Het
Calcr	T	C	6: 3,693,735 (GRCm39)	Y353C	probably damaging	Het
Ccdc34	A	G	2: 109,862,773 (GRCm39)	K193E	possibly damaging	Het
Dhcr24	A	G	4: 106,431,070 (GRCm39)	E253G	probably benign	Het
Dnah6	A	G	6: 73,104,910 (GRCm39)	V1841A	possibly damaging	Het
Dpp10	A	T	1: 123,413,653 (GRCm39)	Y186*	probably null	Het
Dpysl4	C	T	7: 138,680,851 (GRCm39)	T575M	probably damaging	Het
Dusp7	T	A	9: 106,251,092 (GRCm39)	S406T	probably benign	Het
Gga3	T	A	11: 115,478,368 (GRCm39)	T475S	probably benign	Het
Gm10271	T	A	10: 116,792,779 (GRCm39)	K36*	probably null	Het
Gm572	G	A	4: 148,753,329 (GRCm39)	E325K	possibly damaging	Het
Golga2	A	G	2: 32,195,623 (GRCm39)	E806G	probably benign	Het
Igf1	A	T	10: 87,751,181 (GRCm39)	K126*	probably null	Het
Itpkc	A	T	7: 26,927,037 (GRCm39)	N292K	probably benign	Het
Klhl1	A	T	14: 96,517,641 (GRCm39)	M345K	probably benign	Het
Lrp2	A	G	2: 69,367,909 (GRCm39)	V201A	probably damaging	Het
Lrrc8a	C	T	2: 30,151,972 (GRCm39)	T757M	probably benign	Het
Mios	T	A	6: 8,216,453 (GRCm39)	I459K	probably benign	Het
Mrps11	T	C	7: 78,440,393 (GRCm39)	I94T	probably damaging	Het
Ms4a4c	T	A	19: 11,393,759 (GRCm39)	S68T	probably benign	Het
Mstn	C	T	1: 53,101,130 (GRCm39)	T69I	possibly damaging	Het
Myo10	A	G	15: 25,779,712 (GRCm39)	K28E	probably damaging	Het
Nol6	A	G	4: 41,117,452 (GRCm39)	S914P	probably damaging	Het
Ntn1	C	G	11: 68,276,619 (GRCm39)	D110H	probably damaging	Het
Or51f1e	T	C	7: 102,747,391 (GRCm39)	S148P	probably damaging	Het
Or52b4	C	A	7: 102,184,487 (GRCm39)	H178N	probably benign	Het
Pcdh17	C	T	14: 84,684,699 (GRCm39)	Q389*	probably null	Het
Pik3r2	G	A	8: 71,223,065 (GRCm39)	R452C	probably benign	Het
Prr14l	T	C	5: 32,987,689 (GRCm39)	E602G	probably damaging	Het
Rusc2	C	A	4: 43,416,424 (GRCm39)	Q577K	probably benign	Het
Sacm1l	T	A	9: 123,416,641 (GRCm39)	M534K	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slco4a1	C	T	2: 180,105,884 (GRCm39)	T22M	probably benign	Het
Tas2r104	A	T	6: 131,661,888 (GRCm39)	C274S	probably benign	Het
Trim43c	T	A	9: 88,722,454 (GRCm39)	H33Q	probably damaging	Het
Ttc17	A	T	2: 94,199,758 (GRCm39)	I411K	possibly damaging	Het
Ttn	G	T	2: 76,581,678 (GRCm39)	L23072I	possibly damaging	Het
Ttn	A	C	2: 76,785,368 (GRCm39)	V669G	possibly damaging	Het
Vmn1r60	A	T	7: 5,548,026 (GRCm39)	F25I	possibly damaging	Het
Vmn2r9	A	G	5: 108,995,997 (GRCm39)	I217T	probably damaging	Het

Other mutations in Tnrc6c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Tnrc6c	APN	11	117,605,011 (GRCm39)	missense	possibly damaging	0.91
IGL01013:Tnrc6c	APN	11	117,612,855 (GRCm39)	missense	probably benign	0.44
IGL01092:Tnrc6c	APN	11	117,612,811 (GRCm39)	missense	probably damaging	0.99
IGL01383:Tnrc6c	APN	11	117,605,083 (GRCm39)	missense	probably benign	0.37
IGL01395:Tnrc6c	APN	11	117,613,939 (GRCm39)	missense	probably benign	0.08
IGL01726:Tnrc6c	APN	11	117,640,161 (GRCm39)	splice site	probably benign
IGL01869:Tnrc6c	APN	11	117,646,274 (GRCm39)	missense	possibly damaging	0.65
IGL02108:Tnrc6c	APN	11	117,612,025 (GRCm39)	missense	probably benign	0.29
IGL02457:Tnrc6c	APN	11	117,613,803 (GRCm39)	missense	probably benign	0.28
IGL02612:Tnrc6c	APN	11	117,633,826 (GRCm39)	missense	possibly damaging	0.95
IGL02748:Tnrc6c	APN	11	117,622,996 (GRCm39)	missense	probably benign	0.00
IGL03160:Tnrc6c	APN	11	117,640,651 (GRCm39)	splice site	probably benign
rodion	UTSW	11	117,629,176 (GRCm39)	critical splice donor site	probably null
F5770:Tnrc6c	UTSW	11	117,614,152 (GRCm39)	missense	probably damaging	1.00
K3955:Tnrc6c	UTSW	11	117,651,564 (GRCm39)	missense	probably damaging	0.99
R0015:Tnrc6c	UTSW	11	117,612,284 (GRCm39)	missense	probably damaging	0.98
R0143:Tnrc6c	UTSW	11	117,643,811 (GRCm39)	missense	probably damaging	1.00
R0277:Tnrc6c	UTSW	11	117,630,707 (GRCm39)	missense	probably damaging	1.00
R0323:Tnrc6c	UTSW	11	117,630,707 (GRCm39)	missense	probably damaging	1.00
R0464:Tnrc6c	UTSW	11	117,651,375 (GRCm39)	missense	probably damaging	1.00
R0699:Tnrc6c	UTSW	11	117,613,447 (GRCm39)	missense	probably benign	0.02
R1015:Tnrc6c	UTSW	11	117,612,748 (GRCm39)	missense	possibly damaging	0.89
R1201:Tnrc6c	UTSW	11	117,612,500 (GRCm39)	missense	probably damaging	0.96
R1297:Tnrc6c	UTSW	11	117,624,529 (GRCm39)	missense	possibly damaging	0.52
R1560:Tnrc6c	UTSW	11	117,650,463 (GRCm39)	missense	probably damaging	1.00
R1596:Tnrc6c	UTSW	11	117,648,867 (GRCm39)	missense	probably damaging	1.00
R1758:Tnrc6c	UTSW	11	117,651,556 (GRCm39)	missense	probably benign	0.09
R1892:Tnrc6c	UTSW	11	117,605,188 (GRCm39)	missense	probably benign
R1901:Tnrc6c	UTSW	11	117,613,831 (GRCm39)	missense	probably damaging	0.98
R1935:Tnrc6c	UTSW	11	117,646,849 (GRCm39)	missense	possibly damaging	0.91
R1936:Tnrc6c	UTSW	11	117,646,849 (GRCm39)	missense	possibly damaging	0.91
R1937:Tnrc6c	UTSW	11	117,646,849 (GRCm39)	missense	possibly damaging	0.91
R1940:Tnrc6c	UTSW	11	117,646,849 (GRCm39)	missense	possibly damaging	0.91
R3622:Tnrc6c	UTSW	11	117,640,451 (GRCm39)	missense	probably damaging	1.00
R3711:Tnrc6c	UTSW	11	117,613,950 (GRCm39)	missense	probably benign	0.00
R3725:Tnrc6c	UTSW	11	117,614,355 (GRCm39)	missense	probably damaging	0.96
R3775:Tnrc6c	UTSW	11	117,614,355 (GRCm39)	missense	probably damaging	0.96
R3776:Tnrc6c	UTSW	11	117,614,355 (GRCm39)	missense	probably damaging	0.96
R3836:Tnrc6c	UTSW	11	117,614,055 (GRCm39)	missense	probably benign	0.20
R3844:Tnrc6c	UTSW	11	117,646,309 (GRCm39)	missense	probably damaging	1.00
R3928:Tnrc6c	UTSW	11	117,614,355 (GRCm39)	missense	probably damaging	0.96
R3929:Tnrc6c	UTSW	11	117,614,355 (GRCm39)	missense	probably damaging	0.96
R3937:Tnrc6c	UTSW	11	117,614,355 (GRCm39)	missense	probably damaging	0.96
R3943:Tnrc6c	UTSW	11	117,614,355 (GRCm39)	missense	probably damaging	0.96
R4501:Tnrc6c	UTSW	11	117,613,324 (GRCm39)	missense	probably damaging	1.00
R4510:Tnrc6c	UTSW	11	117,633,784 (GRCm39)	missense	possibly damaging	0.68
R4511:Tnrc6c	UTSW	11	117,633,784 (GRCm39)	missense	possibly damaging	0.68
R4654:Tnrc6c	UTSW	11	117,611,797 (GRCm39)	missense	probably benign
R4765:Tnrc6c	UTSW	11	117,633,753 (GRCm39)	missense	probably benign	0.09
R4824:Tnrc6c	UTSW	11	117,613,731 (GRCm39)	missense	probably damaging	0.98
R5004:Tnrc6c	UTSW	11	117,611,872 (GRCm39)	missense	probably benign	0.44
R5094:Tnrc6c	UTSW	11	117,611,872 (GRCm39)	missense	probably benign	0.00
R5130:Tnrc6c	UTSW	11	117,629,176 (GRCm39)	critical splice donor site	probably null
R5234:Tnrc6c	UTSW	11	117,651,555 (GRCm39)	missense	probably benign	0.42
R5235:Tnrc6c	UTSW	11	117,651,555 (GRCm39)	missense	probably benign	0.42
R5345:Tnrc6c	UTSW	11	117,614,113 (GRCm39)	missense	possibly damaging	0.80
R5359:Tnrc6c	UTSW	11	117,649,731 (GRCm39)	splice site	silent
R5428:Tnrc6c	UTSW	11	117,591,588 (GRCm39)	start codon destroyed	probably null
R5548:Tnrc6c	UTSW	11	117,651,669 (GRCm39)	missense	possibly damaging	0.96
R5587:Tnrc6c	UTSW	11	117,640,097 (GRCm39)	nonsense	probably null
R5875:Tnrc6c	UTSW	11	117,650,534 (GRCm39)	missense	probably damaging	0.99
R5947:Tnrc6c	UTSW	11	117,613,345 (GRCm39)	missense	probably damaging	1.00
R6135:Tnrc6c	UTSW	11	117,626,831 (GRCm39)	missense	probably damaging	0.97
R6354:Tnrc6c	UTSW	11	117,640,440 (GRCm39)	missense	possibly damaging	0.90
R6389:Tnrc6c	UTSW	11	117,613,567 (GRCm39)	missense	probably damaging	0.99
R7027:Tnrc6c	UTSW	11	117,624,444 (GRCm39)	missense	probably damaging	1.00
R7048:Tnrc6c	UTSW	11	117,612,800 (GRCm39)	missense	probably benign	0.41
R7098:Tnrc6c	UTSW	11	117,604,952 (GRCm39)	missense	probably benign	0.03
R7315:Tnrc6c	UTSW	11	117,614,354 (GRCm39)	missense	probably benign	0.11
R7378:Tnrc6c	UTSW	11	117,632,606 (GRCm39)	missense	probably benign	0.03
R7386:Tnrc6c	UTSW	11	117,612,780 (GRCm39)	missense	probably benign
R7515:Tnrc6c	UTSW	11	117,632,507 (GRCm39)	missense	probably benign	0.03
R7665:Tnrc6c	UTSW	11	117,611,777 (GRCm39)	missense	possibly damaging	0.46
R7755:Tnrc6c	UTSW	11	117,648,912 (GRCm39)	missense	probably benign	0.00
R8679:Tnrc6c	UTSW	11	117,604,961 (GRCm39)	missense	probably benign
R8824:Tnrc6c	UTSW	11	117,630,680 (GRCm39)	splice site	probably benign
R8971:Tnrc6c	UTSW	11	117,640,089 (GRCm39)	missense	possibly damaging	0.95
R9261:Tnrc6c	UTSW	11	117,605,105 (GRCm39)	missense	probably damaging	0.99
R9283:Tnrc6c	UTSW	11	117,591,630 (GRCm39)	missense	unknown
R9342:Tnrc6c	UTSW	11	117,630,720 (GRCm39)	missense	probably benign	0.01
R9633:Tnrc6c	UTSW	11	117,638,009 (GRCm39)	missense	probably damaging	1.00
R9761:Tnrc6c	UTSW	11	117,623,136 (GRCm39)	missense	probably benign
V7580:Tnrc6c	UTSW	11	117,614,152 (GRCm39)	missense	probably damaging	1.00
V7581:Tnrc6c	UTSW	11	117,614,152 (GRCm39)	missense	probably damaging	1.00
V7582:Tnrc6c	UTSW	11	117,614,152 (GRCm39)	missense	probably damaging	1.00
V7583:Tnrc6c	UTSW	11	117,614,152 (GRCm39)	missense	probably damaging	1.00
Z1176:Tnrc6c	UTSW	11	117,623,003 (GRCm39)	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

2015-04-06