Mutagenetix > Incidental Mutation

Incidental Mutation 'R0418:Tnrc6b'

36895

Institutional Source

Beutler Lab

Gene Symbol

Tnrc6b

Ensembl Gene

ENSMUSG00000047888

Gene Name

trinucleotide repeat containing 6b

Synonyms

MMRRC Submission

038620-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R0418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80711313-80941085 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80913323 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1357 (M1357T)

Ref Sequence

ENSEMBL: ENSMUSP00000064336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067689]

AlphaFold

Q8BKI2

Predicted Effect

probably benign
Transcript: ENSMUST00000067689
AA Change: M1357T

PolyPhen 2 Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000064336
Gene: ENSMUSG00000047888
AA Change: M1357T

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
coiled coil region	33	72	N/A	INTRINSIC
low complexity region	88	106	N/A	INTRINSIC
low complexity region	155	174	N/A	INTRINSIC
low complexity region	207	220	N/A	INTRINSIC
low complexity region	242	260	N/A	INTRINSIC
low complexity region	331	346	N/A	INTRINSIC
low complexity region	363	380	N/A	INTRINSIC
low complexity region	416	425	N/A	INTRINSIC
low complexity region	475	487	N/A	INTRINSIC
internal_repeat_1	488	667	6.43e-5	PROSPERO
low complexity region	858	888	N/A	INTRINSIC
Pfam:Ago_hook	955	1095	1.2e-28	PFAM
coiled coil region	1258	1307	N/A	INTRINSIC
Pfam:TNRC6-PABC_bdg	1339	1623	2.8e-112	PFAM
Pfam:RRM_5	1641	1695	2e-7	PFAM
low complexity region	1705	1721	N/A	INTRINSIC
low complexity region	1748	1769	N/A	INTRINSIC
low complexity region	1792	1809	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226442

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228071

Predicted Effect

unknown
Transcript: ENSMUST00000228124
AA Change: M504T

Meta Mutation Damage Score

0.1145

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.2%

Validation Efficiency

98% (64/65)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap allele exhibit neonatal and postnatal lethality with decreased body weight and infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018P22Rik	G	T	2: 104,123,330		probably null	Het
Abca14	T	C	7: 120,207,434	L19P	probably damaging	Het
Abcb1a	T	A	5: 8,713,281	V603E	probably damaging	Het
Acsl5	A	G	19: 55,272,806	D65G	probably benign	Het
Acss3	T	C	10: 107,023,912	Y311C	probably damaging	Het
Ak8	T	G	2: 28,733,856	I151S	possibly damaging	Het
Aldh1a1	T	C	19: 20,629,049		probably benign	Het
Aldh1l1	A	G	6: 90,569,893	R393G	possibly damaging	Het
Ankhd1	T	A	18: 36,634,300	L1164Q	probably damaging	Het
Ascc3	G	T	10: 50,748,926	V1637L	probably benign	Het
Atf5	A	G	7: 44,813,397	M101T	possibly damaging	Het
C77080	A	G	4: 129,223,684	S396P	probably damaging	Het
Det1	T	C	7: 78,844,017	T80A	probably benign	Het
Dpp9	C	T	17: 56,194,404		probably benign	Het
Fam13c	A	G	10: 70,534,761	R244G	probably damaging	Het
Fat3	A	T	9: 16,246,896	N1139K	probably damaging	Het
Fbxo17	A	G	7: 28,733,491	T146A	possibly damaging	Het
Fli1	T	C	9: 32,452,129		probably benign	Het
Glb1l2	T	G	9: 26,794,101	D151A	probably damaging	Het
Gli2	G	A	1: 118,840,490	T669I	possibly damaging	Het
Igsf3	C	A	3: 101,435,435	R463S	probably damaging	Het
Il1rl2	T	C	1: 40,326,502	V3A	unknown	Het
Irx3	G	A	8: 91,800,080	S332F	probably benign	Het
Katnb1	C	T	8: 95,095,658	T303M	possibly damaging	Het
Lrrc31	A	T	3: 30,689,234	L194Q	probably damaging	Het
Lrrc37a	T	G	11: 103,503,438	E387A	probably benign	Het
Mapk14	T	C	17: 28,691,789	I17T	probably benign	Het
Mtif2	A	G	11: 29,533,401		probably benign	Het
Myo16	A	G	8: 10,569,918	T1490A	probably benign	Het
Nfasc	A	G	1: 132,611,595	V399A	probably damaging	Het
Nobox	T	C	6: 43,307,235	K1E	probably null	Het
Nr2c1	A	T	10: 94,181,512	M371L	probably benign	Het
Olfr1330	C	T	4: 118,893,251	T56I	possibly damaging	Het
Olfr642	G	A	7: 104,049,772	T194I	probably benign	Het
Oplah	C	T	15: 76,298,487	R924H	probably benign	Het
Pappa2	C	A	1: 158,716,990	C1756F	probably damaging	Het
Pdzd8	G	A	19: 59,300,929	R680C	probably damaging	Het
Rassf3	G	A	10: 121,417,170	T44M	probably benign	Het
Rmnd1	T	C	10: 4,427,693		probably null	Het
Rnf126	C	T	10: 79,762,643		probably benign	Het
Rnf144b	T	C	13: 47,244,490	S299P	probably benign	Het
Ryr2	A	G	13: 11,834,095		probably benign	Het
Scel	T	A	14: 103,603,254	S511T	probably benign	Het
Slc16a10	G	T	10: 40,040,631	S138*	probably null	Het
Slc36a4	A	T	9: 15,734,266	I330F	probably damaging	Het
Slc5a8	A	G	10: 88,886,558	I84M	probably benign	Het
Spag9	T	C	11: 94,091,753		probably benign	Het
Suco	C	T	1: 161,834,850	V671I	probably benign	Het
Suox	G	A	10: 128,670,885	P425S	probably damaging	Het
Tmem266	T	A	9: 55,437,413	V443E	probably benign	Het
Tmprss11f	A	T	5: 86,557,011	I16N	probably benign	Het
Tnik	T	A	3: 28,570,880	Y321*	probably null	Het
Tpbg	C	A	9: 85,844,750	Y257*	probably null	Het
Usp37	A	T	1: 74,490,107	S138T	probably benign	Het
Veph1	T	A	3: 66,255,028	R70*	probably null	Het
Vmn2r17	C	T	5: 109,452,881	P682S	probably damaging	Het
Vmn2r79	A	C	7: 87,002,403	N337H	probably benign	Het
Vstm2b	A	G	7: 40,902,452	D68G	probably damaging	Het
Vwa7	G	T	17: 35,017,957	A167S	possibly damaging	Het
Zfp647	A	T	15: 76,911,386	I358N	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,476,364		probably benign	Het

Other mutations in Tnrc6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01312:Tnrc6b	APN	15	80923578	missense	probably damaging	1.00
IGL01402:Tnrc6b	APN	15	80880544	missense	possibly damaging	0.71
IGL01505:Tnrc6b	APN	15	80879963	missense	probably benign	0.00
IGL01516:Tnrc6b	APN	15	80902622	missense	possibly damaging	0.93
IGL01584:Tnrc6b	APN	15	80879682	missense	probably benign	0.01
IGL01681:Tnrc6b	APN	15	80879311	splice site	probably null
IGL01909:Tnrc6b	APN	15	80901983	missense	possibly damaging	0.88
IGL01943:Tnrc6b	APN	15	80927695	nonsense	probably null
IGL02253:Tnrc6b	APN	15	80876541	missense	probably damaging	0.99
IGL02260:Tnrc6b	APN	15	80880171	missense	probably damaging	0.99
IGL02437:Tnrc6b	APN	15	80880457	missense	probably damaging	1.00
IGL02541:Tnrc6b	APN	15	80879831	missense	probably benign	0.00
IGL02542:Tnrc6b	APN	15	80902352	missense	possibly damaging	0.83
grosser	UTSW	15	80929285	missense	probably damaging	1.00
heiliger	UTSW	15	80927741	critical splice donor site	probably null
PIT1430001:Tnrc6b	UTSW	15	80929186	missense	probably damaging	0.99
R0092:Tnrc6b	UTSW	15	80918528	missense	probably damaging	1.00
R0165:Tnrc6b	UTSW	15	80858670	splice site	probably null
R0238:Tnrc6b	UTSW	15	80887864	missense	probably damaging	1.00
R0238:Tnrc6b	UTSW	15	80887864	missense	probably damaging	1.00
R0257:Tnrc6b	UTSW	15	80894355	missense	possibly damaging	0.80
R0432:Tnrc6b	UTSW	15	80923446	splice site	probably benign
R0487:Tnrc6b	UTSW	15	80880675	missense	probably benign	0.01
R0498:Tnrc6b	UTSW	15	80858719	missense	probably damaging	0.98
R0528:Tnrc6b	UTSW	15	80879403	missense	probably benign	0.00
R0533:Tnrc6b	UTSW	15	80876653	missense	probably benign	0.00
R0571:Tnrc6b	UTSW	15	80913338	missense	probably damaging	1.00
R0650:Tnrc6b	UTSW	15	80784758	missense	probably benign	0.33
R0659:Tnrc6b	UTSW	15	80923446	splice site	probably benign
R0884:Tnrc6b	UTSW	15	80902555	small deletion	probably benign
R1131:Tnrc6b	UTSW	15	80894453	missense	possibly damaging	0.45
R1188:Tnrc6b	UTSW	15	80879229	missense	probably benign
R1479:Tnrc6b	UTSW	15	80887032	splice site	probably null
R1564:Tnrc6b	UTSW	15	80880168	missense	possibly damaging	0.95
R1645:Tnrc6b	UTSW	15	80882958	missense	probably damaging	0.99
R1924:Tnrc6b	UTSW	15	80884206	critical splice acceptor site	probably null
R1926:Tnrc6b	UTSW	15	80881162	missense	probably damaging	1.00
R1928:Tnrc6b	UTSW	15	80880723	missense	probably damaging	1.00
R1965:Tnrc6b	UTSW	15	80880439	missense	probably damaging	1.00
R1966:Tnrc6b	UTSW	15	80880439	missense	probably damaging	1.00
R2072:Tnrc6b	UTSW	15	80882965	missense	possibly damaging	0.89
R3084:Tnrc6b	UTSW	15	80880247	missense	probably damaging	1.00
R3552:Tnrc6b	UTSW	15	80880247	missense	probably damaging	1.00
R3736:Tnrc6b	UTSW	15	80889163	splice site	probably benign
R3791:Tnrc6b	UTSW	15	80923640	missense	probably damaging	1.00
R4170:Tnrc6b	UTSW	15	80916787	missense	probably benign	0.24
R4276:Tnrc6b	UTSW	15	80901971	missense	probably benign	0.42
R4519:Tnrc6b	UTSW	15	80880247	missense	probably damaging	1.00
R5380:Tnrc6b	UTSW	15	80879565	missense	possibly damaging	0.56
R5470:Tnrc6b	UTSW	15	80916711	missense	possibly damaging	0.89
R5590:Tnrc6b	UTSW	15	80876502	missense	probably damaging	0.98
R5982:Tnrc6b	UTSW	15	80880816	missense	probably benign
R6269:Tnrc6b	UTSW	15	80880743	missense	probably benign	0.42
R6331:Tnrc6b	UTSW	15	80879614	missense	probably benign	0.00
R6484:Tnrc6b	UTSW	15	80879324	missense	possibly damaging	0.92
R6622:Tnrc6b	UTSW	15	80879184	missense	probably damaging	0.99
R6695:Tnrc6b	UTSW	15	80879773	missense	probably damaging	1.00
R6728:Tnrc6b	UTSW	15	80918526	missense	probably damaging	1.00
R6776:Tnrc6b	UTSW	15	80924119	missense	possibly damaging	0.87
R7159:Tnrc6b	UTSW	15	80887022	missense	possibly damaging	0.92
R7210:Tnrc6b	UTSW	15	80929285	missense	probably damaging	1.00
R7287:Tnrc6b	UTSW	15	80879541	missense	possibly damaging	0.83
R7402:Tnrc6b	UTSW	15	80884300	missense	probably damaging	1.00
R7479:Tnrc6b	UTSW	15	80889126	missense	probably benign	0.13
R7533:Tnrc6b	UTSW	15	80927741	critical splice donor site	probably null
R7571:Tnrc6b	UTSW	15	80929393	missense	probably benign
R7594:Tnrc6b	UTSW	15	80880307	missense	possibly damaging	0.66
R7831:Tnrc6b	UTSW	15	80880379	missense	possibly damaging	0.49
R8208:Tnrc6b	UTSW	15	80858700	missense	possibly damaging	0.53
R8276:Tnrc6b	UTSW	15	80880717	missense	probably benign	0.00
R8295:Tnrc6b	UTSW	15	80913364	missense	probably damaging	1.00
R8351:Tnrc6b	UTSW	15	80923490	missense	probably damaging	0.99
R8423:Tnrc6b	UTSW	15	80929418	missense	unknown
R8451:Tnrc6b	UTSW	15	80923490	missense	probably damaging	0.99
R8725:Tnrc6b	UTSW	15	80876452	missense	probably damaging	1.00
R8872:Tnrc6b	UTSW	15	80918089	missense	probably benign	0.23
R9029:Tnrc6b	UTSW	15	80878978	missense	possibly damaging	0.83
R9057:Tnrc6b	UTSW	15	80879148	missense	probably benign
R9240:Tnrc6b	UTSW	15	80880061	missense	probably damaging	0.98
R9450:Tnrc6b	UTSW	15	80880436	missense	probably benign	0.01
R9539:Tnrc6b	UTSW	15	80876343	missense	probably damaging	0.99
R9646:Tnrc6b	UTSW	15	80889065	missense	possibly damaging	0.89
X0020:Tnrc6b	UTSW	15	80882997	missense	probably benign	0.16
X0025:Tnrc6b	UTSW	15	80881167	missense	probably benign	0.03
Z1088:Tnrc6b	UTSW	15	80927690	nonsense	probably null
Z1177:Tnrc6b	UTSW	15	80858699	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- AGACCTTGTACTGGCTCCTAAACCC -3'
(R):5'- AAGATTCTGCTACTAACATGAGGCTGC -3'

Sequencing Primer
(F):5'- GTCAGAGAATGGTTGAATCCCCC -3'
(R):5'- AACATGAGGCTGCTCTCTCAC -3'

Posted On

2013-05-09