Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02612:Tnrc6c'

300531

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 #

IGL02612

Quality Score

Status

Chromosome

Chromosomal Location

117545115-117654265 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117633826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1308 (V1308E)

Ref Sequence

ENSEMBL: ENSMUSP00000101951 (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: V1308E

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026658
Gene: ENSMUSG00000025571
AA Change: V1308E

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: V1308E

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101951
Gene: ENSMUSG00000025571
AA Change: V1308E

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: ENSMUST00000138299
AA Change: V1140E

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115221
Gene: ENSMUSG00000025571
AA Change: V1140E

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: ENSMUST00000140347

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,654,971 (GRCm39)	M1432L	probably benign	Het
Alg11	A	G	8: 22,551,999 (GRCm39)	R48G	probably benign	Het
Armc8	T	C	9: 99,409,122 (GRCm39)		probably benign	Het
Bmp4	T	A	14: 46,621,938 (GRCm39)	D202V	probably damaging	Het
Car12	T	G	9: 66,669,706 (GRCm39)	L300R	probably damaging	Het
Cdc37l1	T	A	19: 28,993,502 (GRCm39)	*336R	probably null	Het
Cep89	A	G	7: 35,124,080 (GRCm39)		probably null	Het
Ces3b	T	A	8: 105,811,901 (GRCm39)	D103E	possibly damaging	Het
Chd5	A	G	4: 152,445,033 (GRCm39)	D338G	probably damaging	Het
Crot	A	G	5: 9,019,945 (GRCm39)	C466R	probably damaging	Het
Dach2	T	C	X: 112,660,101 (GRCm39)	M194T	probably benign	Het
Dmrtc1b	A	G	X: 101,756,873 (GRCm39)	D100G	probably benign	Het
Epm2a	G	A	10: 11,332,980 (GRCm39)	R271H	probably damaging	Het
Fem1c	G	T	18: 46,638,781 (GRCm39)	T407K	probably benign	Het
Fer1l4	T	C	2: 155,889,848 (GRCm39)	Y273C	probably damaging	Het
Foxc2	C	A	8: 121,844,576 (GRCm39)	A408E	probably benign	Het
Gbp10	A	T	5: 105,366,368 (GRCm39)	M512K	possibly damaging	Het
Gm5134	T	C	10: 75,828,323 (GRCm39)	L301P	probably damaging	Het
Grk3	A	T	5: 113,117,100 (GRCm39)	D100E	probably benign	Het
Gsdma3	T	A	11: 98,526,707 (GRCm39)	D322E	probably damaging	Het
Gucy1a2	C	A	9: 3,894,556 (GRCm39)	L680I	possibly damaging	Het
Ighv7-2	T	C	12: 113,875,766 (GRCm39)	Y79C	probably damaging	Het
Igkv4-50	T	C	6: 69,678,024 (GRCm39)	T27A	probably benign	Het
Ints2	T	C	11: 86,106,404 (GRCm39)	D1002G	probably damaging	Het
Map4k5	T	A	12: 69,896,358 (GRCm39)	I169F	possibly damaging	Het
Mink1	T	C	11: 70,488,052 (GRCm39)	V39A	probably damaging	Het
Mms22l	T	A	4: 24,508,482 (GRCm39)	H301Q	probably benign	Het
Myh4	C	T	11: 67,147,305 (GRCm39)	T1650I	probably benign	Het
Or52n4	A	T	7: 104,293,870 (GRCm39)	D234E	probably benign	Het
Or8b37	T	A	9: 37,958,662 (GRCm39)	L48Q	probably damaging	Het
Or8b44	T	C	9: 38,410,769 (GRCm39)	M268T	probably benign	Het
Pate10	T	C	9: 35,653,460 (GRCm39)	I88T	possibly damaging	Het
Pbxip1	C	T	3: 89,350,988 (GRCm39)	T117M	probably damaging	Het
Pgghg	C	T	7: 140,526,251 (GRCm39)	T572M	probably damaging	Het
Phactr2	G	A	10: 13,121,167 (GRCm39)	T511I	probably damaging	Het
Pip5k1a	T	C	3: 94,974,724 (GRCm39)	I385V	probably benign	Het
Pwp2	A	G	10: 78,018,828 (GRCm39)	C60R	probably damaging	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Rttn	G	T	18: 88,991,750 (GRCm39)	D110Y	probably damaging	Het
Setbp1	G	T	18: 78,798,925 (GRCm39)	H1418Q	probably damaging	Het
Sf3b3	T	C	8: 111,569,608 (GRCm39)	I37V	probably benign	Het
Slc27a6	A	T	18: 58,689,977 (GRCm39)	I148F	probably benign	Het
Slmap	A	G	14: 26,180,621 (GRCm39)		probably benign	Het
Speer4a3	A	C	5: 26,156,614 (GRCm39)	Y122D	probably benign	Het
Stil	A	G	4: 114,880,893 (GRCm39)	Q479R	possibly damaging	Het
Svop	A	G	5: 114,166,321 (GRCm39)	*549Q	probably null	Het
Tnks	C	T	8: 35,316,453 (GRCm39)	V889I	possibly damaging	Het
Vmn1r208	C	A	13: 22,956,993 (GRCm39)	C168F	probably damaging	Het
Vmn2r117	A	T	17: 23,678,758 (GRCm39)	M822K	possibly damaging	Het
Vwa8	A	G	14: 79,420,552 (GRCm39)	N1751S	probably benign	Het
Vwde	A	T	6: 13,187,148 (GRCm39)	F780I	probably damaging	Het
Washc2	T	C	6: 116,197,577 (GRCm39)	I184T	possibly damaging	Het
Wdr26	A	T	1: 181,005,361 (GRCm39)		probably benign	Het
Zfp608	G	A	18: 55,031,273 (GRCm39)	T889M	probably damaging	Het
Zfp955a	G	T	17: 33,463,039 (GRCm39)	Q31K	probably damaging	Het
Zpbp2	T	C	11: 98,446,343 (GRCm39)	L145S	probably benign	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
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