Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02457:Tnrc6c'

294456

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tnrc6c

Ensembl Gene

ENSMUSG00000025571

Gene Name

trinucleotide repeat containing 6C

Synonyms

9930033H14Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02457

Quality Score

Status

Chromosome

Chromosomal Location

117545115-117654265 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117613803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 814 (S814T)

Ref Sequence

ENSEMBL: ENSMUSP00000101951 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026658
AA Change: S814T

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000026658
Gene: ENSMUSG00000025571
AA Change: S814T

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: S814T

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101951
Gene: ENSMUSG00000025571
AA Change: S814T

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: S654T

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000115221
Gene: ENSMUSG00000025571
AA Change: S654T

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

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	A	G	2: 181,136,127 (GRCm39)	D343G	probably benign	Het
Acot10	T	C	15: 20,666,229 (GRCm39)	S171G	possibly damaging	Het
Actr3b	T	C	5: 26,054,160 (GRCm39)		probably null	Het
Adamts17	T	C	7: 66,677,562 (GRCm39)	M492T	probably damaging	Het
Akap4	A	C	X: 6,943,707 (GRCm39)	N670T	probably benign	Het
Atrip	A	G	9: 108,894,299 (GRCm39)	S55P	possibly damaging	Het
Bend3	A	T	10: 43,385,946 (GRCm39)	E113V	probably damaging	Het
Ccdc158	A	C	5: 92,797,907 (GRCm39)	I411S	probably damaging	Het
Cfap97	G	T	8: 46,623,315 (GRCm39)	C235F	possibly damaging	Het
Chil4	T	C	3: 106,121,715 (GRCm39)	N45D	probably benign	Het
Cripto	C	T	9: 110,771,691 (GRCm39)	C32Y	probably damaging	Het
D430041D05Rik	A	G	2: 104,079,690 (GRCm39)	V1131A	probably damaging	Het
Defb38	T	C	8: 19,076,552 (GRCm39)		probably benign	Het
Dnah10	T	A	5: 124,866,860 (GRCm39)	W2260R	probably damaging	Het
Ecsit	A	G	9: 21,989,500 (GRCm39)	S14P	probably damaging	Het
Eif3l	T	C	15: 78,962,296 (GRCm39)	F106L	probably benign	Het
Erich5	G	T	15: 34,470,999 (GRCm39)	G76V	probably damaging	Het
Evpl	A	G	11: 116,120,939 (GRCm39)	L432P	possibly damaging	Het
Fbxw10	T	C	11: 62,765,808 (GRCm39)	F698L	probably damaging	Het
Frem2	A	T	3: 53,428,470 (GRCm39)	S2866T	probably damaging	Het
Fuca1	G	A	4: 135,662,073 (GRCm39)	V334I	probably benign	Het
Hprt1	T	A	X: 52,091,010 (GRCm39)	H60Q	probably benign	Het
Kirrel2	T	C	7: 30,152,165 (GRCm39)	N481S	probably damaging	Het
Krt16	A	T	11: 100,137,162 (GRCm39)		probably benign	Het
Lilrb4b	T	A	10: 51,357,334 (GRCm39)	Y57N	probably benign	Het
Lix1l	A	G	3: 96,521,792 (GRCm39)	Y126C	probably damaging	Het
Lox	T	C	18: 52,654,388 (GRCm39)	D347G	probably damaging	Het
Mak16	C	T	8: 31,654,753 (GRCm39)	R147Q	possibly damaging	Het
Ndst2	G	A	14: 20,779,622 (GRCm39)	A206V	possibly damaging	Het
Or1ak2	A	T	2: 36,827,760 (GRCm39)	I210F	probably damaging	Het
Or2q1	T	A	6: 42,795,176 (GRCm39)	I257N	probably damaging	Het
Phldb1	T	C	9: 44,627,771 (GRCm39)	M225V	probably benign	Het
Pofut1	C	T	2: 153,090,516 (GRCm39)	Q137*	probably null	Het
Polr2a	T	C	11: 69,634,076 (GRCm39)		probably benign	Het
Prdm5	T	A	6: 65,858,100 (GRCm39)	L388Q	probably damaging	Het
Rad51c	A	G	11: 87,271,681 (GRCm39)	S344P	possibly damaging	Het
Scart1	G	A	7: 139,800,308 (GRCm39)	G30S	probably benign	Het
Sdk1	C	T	5: 141,938,771 (GRCm39)	P398L	probably damaging	Het
Sec63	G	A	10: 42,677,729 (GRCm39)		probably benign	Het
Sgo1	A	T	17: 53,983,989 (GRCm39)	L463Q	probably damaging	Het
Slc5a6	A	G	5: 31,198,002 (GRCm39)	L291P	probably damaging	Het
Smarcb1	T	C	10: 75,757,205 (GRCm39)	T9A	probably benign	Het
Sp3	A	G	2: 72,801,813 (GRCm39)	W67R	probably damaging	Het
Ssxb9	A	C	X: 21,041,234 (GRCm39)	S23A	probably benign	Het
Syne1	A	G	10: 5,292,167 (GRCm39)	L1367S	probably damaging	Het
Tbc1d23	T	A	16: 56,990,754 (GRCm39)	I690F	probably damaging	Het
Tmed5	A	T	5: 108,272,416 (GRCm39)	S227R	probably benign	Het
Trbv2	C	T	6: 41,024,905 (GRCm39)	T107I	probably benign	Het
Trpm6	T	C	19: 18,803,155 (GRCm39)	V866A	probably damaging	Het
Trpm6	A	T	19: 18,804,762 (GRCm39)	K905*	probably null	Het
Ttn	A	G	2: 76,539,654 (GRCm39)	V34444A	probably benign	Het
Vmn1r86	C	T	7: 12,836,707 (GRCm39)	M56I	probably benign	Het
Vmn2r17	A	C	5: 109,601,012 (GRCm39)	D770A	probably damaging	Het
Wnk4	T	C	11: 101,160,389 (GRCm39)		probably benign	Het
Xaf1	T	C	11: 72,194,257 (GRCm39)	M46T	possibly 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
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
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

Posted On

2015-04-16