Mutagenetix > Incidental Mutation

Incidental Mutation 'R8824:Tnrc6c'

690360

Institutional Source

Beutler Lab

Gene Symbol

Tnrc6c

Ensembl Gene

ENSMUSG00000025571

Gene Name

trinucleotide repeat containing 6C

Synonyms

9930033H14Rik

MMRRC Submission

068657-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8824 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117545115-117654265 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 117630680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 benign
Transcript: ENSMUST00000026658

SMART Domains

Protein: ENSMUSP00000026658
Gene: ENSMUSG00000025571

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

SMART Domains

Protein: ENSMUSP00000101951
Gene: ENSMUSG00000025571

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

SMART Domains

Protein: ENSMUSP00000115221
Gene: ENSMUSG00000025571

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (63/63)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,693,195 (GRCm39)	V260D	probably damaging	Het
Adora2a	G	A	10: 75,162,013 (GRCm39)	A51T	probably damaging	Het
Afg1l	G	A	10: 42,314,383 (GRCm39)	P128S	possibly damaging	Het
Ago4	C	A	4: 126,400,977 (GRCm39)	V623L	probably benign	Het
Akap11	A	T	14: 78,753,787 (GRCm39)	N112K		Het
C1ra	A	T	6: 124,494,654 (GRCm39)	I306F	probably damaging	Het
Ccdc73	A	G	2: 104,822,222 (GRCm39)	N724D	possibly damaging	Het
Cd248	A	G	19: 5,119,645 (GRCm39)	I498V	probably benign	Het
Clrn1	A	T	3: 58,792,314 (GRCm39)	S50T	probably benign	Het
Col7a1	A	G	9: 108,796,093 (GRCm39)	K1553R	unknown	Het
Cxcr6	A	C	9: 123,640,006 (GRCm39)	T343P	probably benign	Het
Cyp11b2	T	A	15: 74,727,914 (GRCm39)	Q56L	probably damaging	Het
Dip2a	A	G	10: 76,114,320 (GRCm39)		probably null	Het
Dnmbp	A	G	19: 43,838,276 (GRCm39)	V742A	probably benign	Het
Dusp16	A	T	6: 134,716,732 (GRCm39)	S192T	probably benign	Het
Ehbp1	A	T	11: 22,182,053 (GRCm39)	D87E	probably damaging	Het
Fgl1	A	G	8: 41,652,748 (GRCm39)	V150A	probably benign	Het
Flt3	T	C	5: 147,271,673 (GRCm39)	D873G	probably damaging	Het
Gart	T	C	16: 91,427,591 (GRCm39)	D469G	possibly damaging	Het
Gm28168	T	G	1: 117,875,625 (GRCm39)	S85A	probably benign	Het
Golgb1	A	G	16: 36,736,051 (GRCm39)	D1807G	probably benign	Het
Grm8	A	G	6: 27,761,351 (GRCm39)	L291S	probably damaging	Het
Gucy2d	C	T	7: 98,092,676 (GRCm39)	P18S	possibly damaging	Het
Ifna15	C	T	4: 88,475,998 (GRCm39)	C162Y	probably damaging	Het
Iqub	C	A	6: 24,479,307 (GRCm39)	E412*	probably null	Het
Krt4	T	A	15: 101,829,077 (GRCm39)	D312V		Het
Krtap26-1	T	C	16: 88,444,324 (GRCm39)	Y99C	probably damaging	Het
Krtap26-1	A	T	16: 88,444,303 (GRCm39)	I106N	probably damaging	Het
Lipn	T	C	19: 34,062,116 (GRCm39)	I357T	probably benign	Het
Lrrc14b	A	G	13: 74,512,068 (GRCm39)	L4P	probably damaging	Het
Mrgpra9	A	T	7: 46,885,041 (GRCm39)	C209S	probably benign	Het
Myh7b	A	G	2: 155,472,301 (GRCm39)	N1291D	probably benign	Het
Myo5a	A	G	9: 75,074,328 (GRCm39)	T746A	probably damaging	Het
Myom2	A	C	8: 15,164,169 (GRCm39)	E1021D	possibly damaging	Het
Ncoa2	C	T	1: 13,247,409 (GRCm39)	R338H	probably benign	Het
Ncor2	A	G	5: 125,195,821 (GRCm39)	F91L		Het
Neb	C	G	2: 52,106,923 (GRCm39)	A4407P	probably damaging	Het
Or10u4	C	T	10: 129,801,661 (GRCm39)	V297M	probably damaging	Het
Or1j18	A	T	2: 36,625,203 (GRCm39)	Y290F	probably damaging	Het
Or4b1b	A	G	2: 90,126,356 (GRCm39)	I283T	probably damaging	Het
Or5d47	A	G	2: 87,804,347 (GRCm39)	F221L	probably benign	Het
Or5p76	T	G	7: 108,122,350 (GRCm39)	Y269S	probably benign	Het
Or5w12	T	C	2: 87,502,304 (GRCm39)	M136V	possibly damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Piwil4	C	A	9: 14,638,771 (GRCm39)	K298N	probably benign	Het
Prkcz	G	A	4: 155,429,285 (GRCm39)		probably benign	Het
Prkg2	G	A	5: 99,090,067 (GRCm39)	P691L	possibly damaging	Het
Ptprc	T	A	1: 138,041,446 (GRCm39)	K89*	probably null	Het
Rapgef3	C	T	15: 97,664,789 (GRCm39)	A25T	probably benign	Het
Rreb1	C	T	13: 38,114,492 (GRCm39)	T617I	probably damaging	Het
Rsph1	A	C	17: 31,492,350 (GRCm39)	V72G	possibly damaging	Het
Shc2	A	G	10: 79,473,536 (GRCm39)	V50A	probably benign	Het
Slc38a9	G	A	13: 112,838,021 (GRCm39)	R262H	probably benign	Het
Slco6c1	T	A	1: 97,055,884 (GRCm39)	N6Y	possibly damaging	Het
Smarca5	A	G	8: 81,431,961 (GRCm39)	F886L	probably benign	Het
Tas1r2	A	G	4: 139,381,074 (GRCm39)		probably benign	Het
Trim30b	T	A	7: 104,007,113 (GRCm39)		probably benign	Het
Trim55	T	C	3: 19,727,126 (GRCm39)	S398P	probably benign	Het
Ttc39c	T	A	18: 12,820,003 (GRCm39)		probably benign	Het
Ubxn10	A	G	4: 138,463,178 (GRCm39)		probably null	Het
Usf3	A	G	16: 44,035,976 (GRCm39)	N152S	probably benign	Het
Vps13b	T	A	15: 35,533,445 (GRCm39)	V839E	probably damaging	Het
Zeb1	T	A	18: 5,748,680 (GRCm39)		probably benign	Het
Zfp780b	T	C	7: 27,662,893 (GRCm39)	Y554C	probably benign	Het
Zhx2	C	T	15: 57,684,676 (GRCm39)	T15I	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
R3852:Tnrc6c	UTSW	11	117,614,355 (GRCm39)	missense	probably damaging	0.96
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
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'- AGCAAGTCCATGAAGACCTGG -3'
(R):5'- CTAAGACAGCTGCCTAGATCC -3'

Sequencing Primer
(F):5'- CTGGGAGCAGAGGAAGTTCATTCTAC -3'
(R):5'- GACAGCTGCCTAGATCCATACCTTG -3'

Posted On

2021-12-16