Mutagenetix > Incidental Mutation

Incidental Mutation 'R6354:Tnrc6c'

512981

Institutional Source

Beutler Lab

Gene Symbol

Tnrc6c

Ensembl Gene

ENSMUSG00000025571

Gene Name

trinucleotide repeat containing 6C

Synonyms

9930033H14Rik

MMRRC Submission

044506-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6354 (G1)

Quality Score

168.009

Status

Validated

Chromosome

Chromosomal Location

117545115-117654265 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117640440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1410 (Q1410L)

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: Q1410L

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026658
Gene: ENSMUSG00000025571
AA Change: Q1410L

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: Q1410L

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101951
Gene: ENSMUSG00000025571
AA Change: Q1410L

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: Q1242L

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115221
Gene: ENSMUSG00000025571
AA Change: Q1242L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141287

Meta Mutation Damage Score

0.1045

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.5%
20x: 95.3%

Validation Efficiency

100% (56/56)

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
1700012B07Rik	T	C	11: 109,685,042 (GRCm39)	K152E	probably benign	Het
Adamts20	C	A	15: 94,245,691 (GRCm39)	C537F	probably damaging	Het
Apc	A	T	18: 34,445,581 (GRCm39)	T808S	probably benign	Het
Atad3a	A	G	4: 155,838,402 (GRCm39)	I205T	possibly damaging	Het
Casz1	G	T	4: 149,036,999 (GRCm39)	G1754C	unknown	Het
Ccdc62	C	T	5: 124,082,267 (GRCm39)	A232V	probably damaging	Het
Cdc27	C	A	11: 104,425,574 (GRCm39)	D81Y	probably damaging	Het
Cep126	A	G	9: 8,099,928 (GRCm39)	S869P	probably damaging	Het
Cfap251	C	T	5: 123,440,818 (GRCm39)	T1125I	probably damaging	Het
Ciita	A	T	16: 10,341,610 (GRCm39)	K983N	probably damaging	Het
Cimap1a	A	G	7: 140,430,527 (GRCm39)		probably null	Het
Clstn1	A	C	4: 149,727,673 (GRCm39)	Q523P	probably benign	Het
Cpb2	T	C	14: 75,495,145 (GRCm39)		probably null	Het
Crybg2	A	G	4: 133,818,447 (GRCm39)	D1710G	probably benign	Het
Csmd3	C	T	15: 47,744,885 (GRCm39)	G1370D	probably damaging	Het
Cwf19l1	G	T	19: 44,115,912 (GRCm39)	D172E	probably benign	Het
Cyp4a14	A	G	4: 115,344,441 (GRCm39)	F475L	probably damaging	Het
Fam98c	C	T	7: 28,852,272 (GRCm39)	V298M	probably damaging	Het
Gcsh	T	C	8: 117,710,582 (GRCm39)	N127S	probably benign	Het
Gimap4	T	C	6: 48,663,814 (GRCm39)	F10S	possibly damaging	Het
Gm4787	C	T	12: 81,424,755 (GRCm39)	A468T	probably damaging	Het
Gm5111	G	A	6: 48,567,268 (GRCm39)		probably benign	Het
Gm7137	C	A	10: 77,623,481 (GRCm39)		probably benign	Het
Inpp1	A	G	1: 52,836,224 (GRCm39)	S81P	probably damaging	Het
Iqce	T	C	5: 140,662,090 (GRCm39)		probably null	Het
Ivl	CCTGCTGCTGCTGCT	CCTGCTGCTGCT	3: 92,479,217 (GRCm39)		probably benign	Het
Krtap13	C	A	16: 88,548,131 (GRCm39)	C119F	probably damaging	Het
Lama2	G	T	10: 27,088,064 (GRCm39)	D904E	probably damaging	Het
Lrrc37a	T	A	11: 103,355,213 (GRCm39)	I2535F	unknown	Het
Lrrc40	T	A	3: 157,766,901 (GRCm39)	L452*	probably null	Het
Meis1	A	T	11: 18,966,184 (GRCm39)	M63K	possibly damaging	Het
Mpo	T	A	11: 87,688,172 (GRCm39)	I277N	possibly damaging	Het
Mtmr11	T	A	3: 96,075,992 (GRCm39)	F406I	probably benign	Het
Muc4	T	C	16: 32,575,476 (GRCm39)	S1411P	probably benign	Het
Or2y1b	A	T	11: 49,208,465 (GRCm39)	I31F	probably damaging	Het
Or4c102	T	A	2: 88,422,478 (GRCm39)	I110N	probably damaging	Het
Or56a5	G	A	7: 104,792,915 (GRCm39)	T195I	probably benign	Het
Phf21a	G	A	2: 92,179,282 (GRCm39)	G298R	probably damaging	Het
Phldb2	T	C	16: 45,645,477 (GRCm39)	Y368C	probably damaging	Het
Pik3cb	G	T	9: 98,955,696 (GRCm39)	T407K	probably benign	Het
Robo3	A	T	9: 37,328,513 (GRCm39)		probably benign	Het
Sgsm1	T	G	5: 113,430,522 (GRCm39)	T288P	probably damaging	Het
Slc5a7	A	G	17: 54,584,061 (GRCm39)	S410P	probably damaging	Het
Tmc6	A	C	11: 117,665,062 (GRCm39)	C404G	probably benign	Het
Trak1	A	T	9: 121,280,792 (GRCm39)	T384S	probably null	Het
Txlna	A	T	4: 129,528,205 (GRCm39)	L244Q	probably damaging	Het
Ube3c	T	C	5: 29,868,581 (GRCm39)	F939L	probably damaging	Het
Vmn2r65	T	A	7: 84,589,574 (GRCm39)	I781F	probably benign	Het
Vmn2r72	A	G	7: 85,399,747 (GRCm39)		probably null	Het
Vps36	T	C	8: 22,695,771 (GRCm39)	S109P	probably damaging	Het
Wrn	T	C	8: 33,833,666 (GRCm39)	I82M	possibly damaging	Het
Zbtb49	T	C	5: 38,360,903 (GRCm39)	R511G	possibly damaging	Het
Zeb1	A	G	18: 5,772,743 (GRCm39)	T1011A	possibly damaging	Het
Zfhx4	T	C	3: 5,467,011 (GRCm39)	S2390P	probably benign	Het
Zfp619	C	A	7: 39,184,243 (GRCm39)	T91K	probably benign	Het
Zfp644	A	G	5: 106,784,619 (GRCm39)	S643P	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
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
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'- TTAGTAGAGGAGACCCCAGTGG -3'
(R):5'- GAAGACTGCTGCTCTTTGGTC -3'

Sequencing Primer
(F):5'- ACTCCCTGTGTGGAAAGTCC -3'
(R):5'- TCTGCAGGTCGGGAAGG -3'

Posted On

2018-04-27