Mutagenetix > Incidental Mutation

Incidental Mutation 'R1201:Tnrc6c'

101407

Institutional Source

Beutler Lab

Gene Symbol

Tnrc6c

Ensembl Gene

ENSMUSG00000025571

Gene Name

trinucleotide repeat containing 6C

Synonyms

9930033H14Rik

MMRRC Submission

039271-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1201 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117545115-117654265 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 117612500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 379 (N379K)

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 damaging
Transcript: ENSMUST00000026658
AA Change: N379K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026658
Gene: ENSMUSG00000025571
AA Change: N379K

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 damaging
Transcript: ENSMUST00000106344
AA Change: N379K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101951
Gene: ENSMUSG00000025571
AA Change: N379K

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: N219K

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115221
Gene: ENSMUSG00000025571
AA Change: N219K

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

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 89.4%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,546,626 (GRCm39)	T103A	possibly damaging	Het
Acly	A	G	11: 100,384,761 (GRCm39)	I674T	probably damaging	Het
Aco2	C	T	15: 81,779,394 (GRCm39)	S33L	probably damaging	Het
Actc1	A	G	2: 113,879,994 (GRCm39)		probably null	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Arhgap40	A	C	2: 158,376,689 (GRCm39)	D275A	probably damaging	Het
Bltp1	A	G	3: 37,002,524 (GRCm39)	S1490G	probably benign	Het
Car11	A	G	7: 45,352,904 (GRCm39)	D221G	probably benign	Het
Catsperg1	A	T	7: 28,891,095 (GRCm39)	H596Q	possibly damaging	Het
Ccm2	T	C	11: 6,543,682 (GRCm39)	V231A	probably benign	Het
Crh	A	G	3: 19,748,090 (GRCm39)	I184T	probably damaging	Het
Csgalnact2	A	G	6: 118,091,393 (GRCm39)	S424P	probably damaging	Het
Dbf4	A	C	5: 8,447,498 (GRCm39)	L571V	possibly damaging	Het
Fancm	A	G	12: 65,153,542 (GRCm39)	K66E	possibly damaging	Het
Hydin	T	C	8: 111,296,487 (GRCm39)	V3672A	probably benign	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Krt36	T	C	11: 99,994,883 (GRCm39)	N230D	probably benign	Het
Nlrp4b	G	T	7: 10,449,363 (GRCm39)	R522L	possibly damaging	Het
Ntn1	T	C	11: 68,104,052 (GRCm39)	D532G	probably damaging	Het
Numb	A	T	12: 83,848,059 (GRCm39)	V215D	probably damaging	Het
Or1x2	T	A	11: 50,917,937 (GRCm39)	M36K	probably damaging	Het
Or4k15	T	A	14: 50,364,813 (GRCm39)	W260R	probably damaging	Het
Or5k8	A	G	16: 58,644,226 (GRCm39)	I282T	probably damaging	Het
Or6b2b	T	G	1: 92,418,875 (GRCm39)	I201L	probably benign	Het
Or7a39	A	T	10: 78,715,311 (GRCm39)	M102L	probably benign	Het
Otulinl	G	A	15: 27,658,259 (GRCm39)	Q84*	probably null	Het
Pidd1	A	G	7: 141,020,187 (GRCm39)	F580L	probably benign	Het
Plekhg4	A	G	8: 106,108,305 (GRCm39)	D1116G	probably damaging	Het
Prss33	G	T	17: 24,054,084 (GRCm39)	S74*	probably null	Het
Rab34	T	A	11: 78,081,222 (GRCm39)		probably null	Het
Rims2	A	C	15: 39,479,720 (GRCm39)	T1251P	possibly damaging	Het
Skint5	A	G	4: 113,413,342 (GRCm39)	S1152P	unknown	Het
Slc6a17	T	A	3: 107,400,388 (GRCm39)	Q206L	possibly damaging	Het
Tmem59l	C	T	8: 70,937,037 (GRCm39)	W310*	probably null	Het
Vmn1r76	A	C	7: 11,664,252 (GRCm39)	F286V	probably benign	Het
Xdh	T	C	17: 74,225,413 (GRCm39)	D463G	probably benign	Het
Zfp251	C	T	15: 76,738,436 (GRCm39)	R219Q	possibly damaging	Het
Zfp263	T	A	16: 3,567,294 (GRCm39)	H536Q	probably damaging	Het
Zfp607a	T	A	7: 27,578,736 (GRCm39)	F602Y	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
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

Predicted Primers

PCR Primer
(F):5'- TCCAATGCGGGCATTAATCTCAACC -3'
(R):5'- CTGATGATCCGTTAGCACCAGGAAG -3'

Sequencing Primer
(F):5'- GCGGGCATTAATCTCAACCTTAATC -3'
(R):5'- CCGTTTGTCTGCATTGCA -3'

Posted On

2014-01-15