Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01013:Tnrc6c'

53868

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 #

IGL01013

Quality Score

Status

Chromosome

Chromosomal Location

117654289-117763439 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 117722029 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 498 (V498L)

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: V498L

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000026658
Gene: ENSMUSG00000025571
AA Change: V498L

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: V498L

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101951
Gene: ENSMUSG00000025571
AA Change: V498L

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: V338L

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000115221
Gene: ENSMUSG00000025571
AA Change: V338L

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	A	5: 76,886,206 (GRCm38)	E499D	possibly damaging	Het
Abca1	A	T	4: 53,038,185 (GRCm38)	L2059*	probably null	Het
Ankar	T	A	1: 72,650,989 (GRCm38)	I1228F	possibly damaging	Het
Appl1	A	T	14: 26,949,476 (GRCm38)	Y340N	possibly damaging	Het
Atp8b4	C	A	2: 126,323,087 (GRCm38)	R1103L	probably benign	Het
B4galt6	A	G	18: 20,689,013 (GRCm38)	V308A	probably damaging	Het
Ccdc162	G	A	10: 41,581,339 (GRCm38)	P1534L	probably benign	Het
Ccdc78	A	G	17: 25,789,054 (GRCm38)	E313G	possibly damaging	Het
Cep57l1	G	A	10: 41,740,869 (GRCm38)	R141*	probably null	Het
Cpsf1	G	A	15: 76,599,297 (GRCm38)	Q883*	probably null	Het
Crot	A	G	5: 8,993,575 (GRCm38)	Y16H	probably benign	Het
Cyld	T	G	8: 88,742,362 (GRCm38)	L587R	probably damaging	Het
Fam114a1	G	A	5: 65,031,395 (GRCm38)		probably null	Het
Fam89b	G	T	19: 5,729,369 (GRCm38)	D53E	probably benign	Het
Fig4	T	C	10: 41,267,786 (GRCm38)	M226V	probably benign	Het
Gm10722	A	T	9: 3,002,230 (GRCm38)	Y184F	probably damaging	Het
Hp	C	A	8: 109,579,021 (GRCm38)		probably benign	Het
Igsf9b	G	T	9: 27,334,304 (GRCm38)	R1189L	probably damaging	Het
Ilf3	A	G	9: 21,399,691 (GRCm38)	N620D	possibly damaging	Het
Jakmip3	A	C	7: 139,017,573 (GRCm38)	E228A	possibly damaging	Het
Kpna3	A	T	14: 61,370,517 (GRCm38)	I413K	probably damaging	Het
Letm1	A	T	5: 33,762,590 (GRCm38)	C202S	possibly damaging	Het
Lmod2	C	A	6: 24,604,135 (GRCm38)	Q370K	probably damaging	Het
Map4k5	T	C	12: 69,827,526 (GRCm38)		probably benign	Het
Mcidas	T	A	13: 112,997,585 (GRCm38)		probably benign	Het
Mme	A	G	3: 63,327,860 (GRCm38)		probably null	Het
Mrc1	T	C	2: 14,328,425 (GRCm38)	W1306R	probably damaging	Het
Mthfd1l	C	A	10: 4,030,716 (GRCm38)	Q473K	probably damaging	Het
Muc6	A	T	7: 141,648,066 (GRCm38)	C719*	probably null	Het
Nsun7	T	C	5: 66,283,601 (GRCm38)	I355T	possibly damaging	Het
Padi6	A	G	4: 140,729,003 (GRCm38)	L560P	probably damaging	Het
Parl	C	A	16: 20,282,790 (GRCm38)	A285S	possibly damaging	Het
Pclo	A	T	5: 14,793,834 (GRCm38)	M4795L	unknown	Het
Polr2f	A	G	15: 79,146,129 (GRCm38)	Y56C	probably damaging	Het
Rasgrp2	A	T	19: 6,404,383 (GRCm38)	H152L	probably damaging	Het
Rpl10l	T	C	12: 66,284,227 (GRCm38)	D44G	probably benign	Het
Slc25a16	A	G	10: 62,944,433 (GRCm38)		probably null	Het
Snrnp200	G	A	2: 127,232,472 (GRCm38)	E1411K	probably damaging	Het
Tanc2	G	A	11: 105,625,065 (GRCm38)	R3Q	probably damaging	Het
Tbc1d32	G	T	10: 56,201,959 (GRCm38)		probably null	Het
Tcf7l2	T	C	19: 55,919,627 (GRCm38)		probably benign	Het
Tymp	G	A	15: 89,376,310 (GRCm38)	H102Y	probably damaging	Het
Wdr76	T	C	2: 121,535,497 (GRCm38)	S492P	probably benign	Het
Zc3h12d	T	C	10: 7,839,956 (GRCm38)	I41T	probably damaging	Het

Other mutations in Tnrc6c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Tnrc6c	APN	11	117,714,185 (GRCm38)	missense	possibly damaging	0.91
IGL01092:Tnrc6c	APN	11	117,721,985 (GRCm38)	missense	probably damaging	0.99
IGL01383:Tnrc6c	APN	11	117,714,257 (GRCm38)	missense	probably benign	0.37
IGL01395:Tnrc6c	APN	11	117,723,113 (GRCm38)	missense	probably benign	0.08
IGL01726:Tnrc6c	APN	11	117,749,335 (GRCm38)	splice site	probably benign
IGL01869:Tnrc6c	APN	11	117,755,448 (GRCm38)	missense	possibly damaging	0.65
IGL02108:Tnrc6c	APN	11	117,721,199 (GRCm38)	missense	probably benign	0.29
IGL02457:Tnrc6c	APN	11	117,722,977 (GRCm38)	missense	probably benign	0.28
IGL02612:Tnrc6c	APN	11	117,743,000 (GRCm38)	missense	possibly damaging	0.95
IGL02748:Tnrc6c	APN	11	117,732,170 (GRCm38)	missense	probably benign	0.00
IGL03160:Tnrc6c	APN	11	117,749,825 (GRCm38)	splice site	probably benign
rodion	UTSW	11	117,738,350 (GRCm38)	critical splice donor site	probably null
F5770:Tnrc6c	UTSW	11	117,723,326 (GRCm38)	missense	probably damaging	1.00
K3955:Tnrc6c	UTSW	11	117,760,738 (GRCm38)	missense	probably damaging	0.99
R0015:Tnrc6c	UTSW	11	117,721,458 (GRCm38)	missense	probably damaging	0.98
R0143:Tnrc6c	UTSW	11	117,752,985 (GRCm38)	missense	probably damaging	1.00
R0277:Tnrc6c	UTSW	11	117,739,881 (GRCm38)	missense	probably damaging	1.00
R0323:Tnrc6c	UTSW	11	117,739,881 (GRCm38)	missense	probably damaging	1.00
R0464:Tnrc6c	UTSW	11	117,760,549 (GRCm38)	missense	probably damaging	1.00
R0699:Tnrc6c	UTSW	11	117,722,621 (GRCm38)	missense	probably benign	0.02
R1015:Tnrc6c	UTSW	11	117,721,922 (GRCm38)	missense	possibly damaging	0.89
R1201:Tnrc6c	UTSW	11	117,721,674 (GRCm38)	missense	probably damaging	0.96
R1297:Tnrc6c	UTSW	11	117,733,703 (GRCm38)	missense	possibly damaging	0.52
R1560:Tnrc6c	UTSW	11	117,759,637 (GRCm38)	missense	probably damaging	1.00
R1596:Tnrc6c	UTSW	11	117,758,041 (GRCm38)	missense	probably damaging	1.00
R1758:Tnrc6c	UTSW	11	117,760,730 (GRCm38)	missense	probably benign	0.09
R1892:Tnrc6c	UTSW	11	117,714,362 (GRCm38)	missense	probably benign
R1901:Tnrc6c	UTSW	11	117,723,005 (GRCm38)	missense	probably damaging	0.98
R1935:Tnrc6c	UTSW	11	117,756,023 (GRCm38)	missense	possibly damaging	0.91
R1936:Tnrc6c	UTSW	11	117,756,023 (GRCm38)	missense	possibly damaging	0.91
R1937:Tnrc6c	UTSW	11	117,756,023 (GRCm38)	missense	possibly damaging	0.91
R1940:Tnrc6c	UTSW	11	117,756,023 (GRCm38)	missense	possibly damaging	0.91
R3622:Tnrc6c	UTSW	11	117,749,625 (GRCm38)	missense	probably damaging	1.00
R3711:Tnrc6c	UTSW	11	117,723,124 (GRCm38)	missense	probably benign	0.00
R3725:Tnrc6c	UTSW	11	117,723,529 (GRCm38)	missense	probably damaging	0.96
R3775:Tnrc6c	UTSW	11	117,723,529 (GRCm38)	missense	probably damaging	0.96
R3776:Tnrc6c	UTSW	11	117,723,529 (GRCm38)	missense	probably damaging	0.96
R3836:Tnrc6c	UTSW	11	117,723,229 (GRCm38)	missense	probably benign	0.20
R3844:Tnrc6c	UTSW	11	117,755,483 (GRCm38)	missense	probably damaging	1.00
R3852:Tnrc6c	UTSW	11	117,723,529 (GRCm38)	missense	probably damaging	0.96
R3928:Tnrc6c	UTSW	11	117,723,529 (GRCm38)	missense	probably damaging	0.96
R3929:Tnrc6c	UTSW	11	117,723,529 (GRCm38)	missense	probably damaging	0.96
R3937:Tnrc6c	UTSW	11	117,723,529 (GRCm38)	missense	probably damaging	0.96
R3943:Tnrc6c	UTSW	11	117,723,529 (GRCm38)	missense	probably damaging	0.96
R4501:Tnrc6c	UTSW	11	117,722,498 (GRCm38)	missense	probably damaging	1.00
R4510:Tnrc6c	UTSW	11	117,742,958 (GRCm38)	missense	possibly damaging	0.68
R4511:Tnrc6c	UTSW	11	117,742,958 (GRCm38)	missense	possibly damaging	0.68
R4654:Tnrc6c	UTSW	11	117,720,971 (GRCm38)	missense	probably benign
R4765:Tnrc6c	UTSW	11	117,742,927 (GRCm38)	missense	probably benign	0.09
R4824:Tnrc6c	UTSW	11	117,722,905 (GRCm38)	missense	probably damaging	0.98
R5004:Tnrc6c	UTSW	11	117,721,046 (GRCm38)	missense	probably benign	0.44
R5094:Tnrc6c	UTSW	11	117,721,046 (GRCm38)	missense	probably benign	0.00
R5130:Tnrc6c	UTSW	11	117,738,350 (GRCm38)	critical splice donor site	probably null
R5234:Tnrc6c	UTSW	11	117,760,729 (GRCm38)	missense	probably benign	0.42
R5235:Tnrc6c	UTSW	11	117,760,729 (GRCm38)	missense	probably benign	0.42
R5345:Tnrc6c	UTSW	11	117,723,287 (GRCm38)	missense	possibly damaging	0.80
R5359:Tnrc6c	UTSW	11	117,758,905 (GRCm38)	splice site	silent
R5428:Tnrc6c	UTSW	11	117,700,762 (GRCm38)	start codon destroyed	probably null
R5548:Tnrc6c	UTSW	11	117,760,843 (GRCm38)	missense	possibly damaging	0.96
R5587:Tnrc6c	UTSW	11	117,749,271 (GRCm38)	nonsense	probably null
R5875:Tnrc6c	UTSW	11	117,759,708 (GRCm38)	missense	probably damaging	0.99
R5947:Tnrc6c	UTSW	11	117,722,519 (GRCm38)	missense	probably damaging	1.00
R6135:Tnrc6c	UTSW	11	117,736,005 (GRCm38)	missense	probably damaging	0.97
R6354:Tnrc6c	UTSW	11	117,749,614 (GRCm38)	missense	possibly damaging	0.90
R6389:Tnrc6c	UTSW	11	117,722,741 (GRCm38)	missense	probably damaging	0.99
R7027:Tnrc6c	UTSW	11	117,733,618 (GRCm38)	missense	probably damaging	1.00
R7048:Tnrc6c	UTSW	11	117,721,974 (GRCm38)	missense	probably benign	0.41
R7098:Tnrc6c	UTSW	11	117,714,126 (GRCm38)	missense	probably benign	0.03
R7315:Tnrc6c	UTSW	11	117,723,528 (GRCm38)	missense	probably benign	0.11
R7378:Tnrc6c	UTSW	11	117,741,780 (GRCm38)	missense	probably benign	0.03
R7386:Tnrc6c	UTSW	11	117,721,954 (GRCm38)	missense	probably benign
R7515:Tnrc6c	UTSW	11	117,741,681 (GRCm38)	missense	probably benign	0.03
R7665:Tnrc6c	UTSW	11	117,720,951 (GRCm38)	missense	possibly damaging	0.46
R7755:Tnrc6c	UTSW	11	117,758,086 (GRCm38)	missense	probably benign	0.00
R8679:Tnrc6c	UTSW	11	117,714,135 (GRCm38)	missense	probably benign
R8824:Tnrc6c	UTSW	11	117,739,854 (GRCm38)	splice site	probably benign
R8971:Tnrc6c	UTSW	11	117,749,263 (GRCm38)	missense	possibly damaging	0.95
R9261:Tnrc6c	UTSW	11	117,714,279 (GRCm38)	missense	probably damaging	0.99
R9283:Tnrc6c	UTSW	11	117,700,804 (GRCm38)	missense	unknown
R9342:Tnrc6c	UTSW	11	117,739,894 (GRCm38)	missense	probably benign	0.01
R9633:Tnrc6c	UTSW	11	117,747,183 (GRCm38)	missense	probably damaging	1.00
R9761:Tnrc6c	UTSW	11	117,732,310 (GRCm38)	missense	probably benign
V7580:Tnrc6c	UTSW	11	117,723,326 (GRCm38)	missense	probably damaging	1.00
V7581:Tnrc6c	UTSW	11	117,723,326 (GRCm38)	missense	probably damaging	1.00
V7582:Tnrc6c	UTSW	11	117,723,326 (GRCm38)	missense	probably damaging	1.00
V7583:Tnrc6c	UTSW	11	117,723,326 (GRCm38)	missense	probably damaging	1.00
Z1176:Tnrc6c	UTSW	11	117,732,177 (GRCm38)	missense	possibly damaging	0.81

Posted On

2013-06-28