Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02541:Tnrc6b'

298246

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tnrc6b

Ensembl Gene

ENSMUSG00000047888

Gene Name

trinucleotide repeat containing 6b

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

IGL02541

Quality Score

Status

Chromosome

Chromosomal Location

80711313-80941085 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 80879831 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 511 (D511E)

Ref Sequence

ENSEMBL: ENSMUSP00000064336 (fasta)

Gene Model

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

AlphaFold

Q8BKI2

Predicted Effect

probably benign
Transcript: ENSMUST00000067689
AA Change: D511E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000064336
Gene: ENSMUSG00000047888
AA Change: D511E

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: ENSMUST00000226857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227546

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228071

Predicted Effect

probably benign
Transcript: ENSMUST00000228124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228320

Coding Region Coverage

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,514,658 (GRCm38)	L917F	possibly damaging	Het
Abca6	A	T	11: 110,212,267 (GRCm38)	W833R	probably damaging	Het
Asb15	T	A	6: 24,566,266 (GRCm38)	V406D	probably damaging	Het
Bcl9l	T	C	9: 44,507,769 (GRCm38)	V968A	probably benign	Het
Bend7	T	C	2: 4,763,305 (GRCm38)		probably null	Het
Cadm2	C	A	16: 66,882,882 (GRCm38)	G21V	possibly damaging	Het
Cadm2	C	A	16: 66,882,883 (GRCm38)		probably null	Het
Camta1	G	A	4: 151,084,655 (GRCm38)	T1191I	probably benign	Het
Cep152	C	T	2: 125,605,354 (GRCm38)	A425T	probably damaging	Het
Cep95	C	A	11: 106,815,581 (GRCm38)	Q554K	probably damaging	Het
Cgref1	A	G	5: 30,934,158 (GRCm38)		probably null	Het
Clock	T	A	5: 76,262,672 (GRCm38)		probably null	Het
Cmc2	A	G	8: 116,894,144 (GRCm38)	F33L	probably benign	Het
Cnksr3	A	G	10: 7,135,073 (GRCm38)	V258A	probably damaging	Het
Col6a6	G	T	9: 105,732,216 (GRCm38)	N1624K	probably benign	Het
Cped1	T	C	6: 22,120,989 (GRCm38)	I356T	probably benign	Het
Dpy19l2	C	T	9: 24,658,647 (GRCm38)	V337I	probably benign	Het
E2f3	A	T	13: 29,916,844 (GRCm38)		probably null	Het
Eif1ad	A	G	19: 5,368,417 (GRCm38)		probably benign	Het
Fam114a2	A	T	11: 57,499,801 (GRCm38)	D302E	probably benign	Het
Fam129c	A	T	8: 71,602,782 (GRCm38)	T279S	probably benign	Het
Fign	T	C	2: 63,979,537 (GRCm38)	N463S	probably benign	Het
Fzr1	T	C	10: 81,370,033 (GRCm38)	T220A	probably damaging	Het
Gm14496	G	A	2: 182,000,393 (GRCm38)	R619Q	probably benign	Het
Gm9268	T	A	7: 43,023,668 (GRCm38)		probably benign	Het
Gm9966	T	C	7: 95,958,784 (GRCm38)	I104T	unknown	Het
Itgb7	G	T	15: 102,223,457 (GRCm38)	H230Q	probably benign	Het
Kif7	T	C	7: 79,710,880 (GRCm38)	H249R	possibly damaging	Het
Krtap4-2	T	G	11: 99,634,966 (GRCm38)	Q20P	unknown	Het
Mis18bp1	T	C	12: 65,161,460 (GRCm38)	T160A	probably damaging	Het
Mpp6	A	G	6: 50,183,727 (GRCm38)	I323V	probably benign	Het
Mrps9	T	C	1: 42,862,654 (GRCm38)		probably null	Het
Mum1	G	A	10: 80,228,439 (GRCm38)		probably null	Het
Mynn	T	A	3: 30,611,603 (GRCm38)	H461Q	probably damaging	Het
Naa25	A	G	5: 121,424,531 (GRCm38)	T459A	possibly damaging	Het
Notch1	C	T	2: 26,468,503 (GRCm38)	D1439N	probably benign	Het
Olfr701	A	G	7: 106,818,602 (GRCm38)	E173G	probably benign	Het
Pcdhb3	A	T	18: 37,302,145 (GRCm38)	D388V	probably damaging	Het
Pold3	C	T	7: 100,083,672 (GRCm38)	G417S	probably damaging	Het
Rad17	A	G	13: 100,633,443 (GRCm38)		probably benign	Het
Sh3glb1	T	C	3: 144,720,040 (GRCm38)	D5G	probably damaging	Het
Shank3	T	A	15: 89,501,410 (GRCm38)	Y167N	probably damaging	Het
Slc3a2	A	T	19: 8,707,759 (GRCm38)	Y292*	probably null	Het
Slc7a13	T	A	4: 19,839,212 (GRCm38)		probably benign	Het
Snx18	A	T	13: 113,594,766 (GRCm38)	I564N	probably damaging	Het
Supt6	G	A	11: 78,226,918 (GRCm38)	R491C	probably damaging	Het
Tanc1	G	T	2: 59,833,258 (GRCm38)	G1120C	probably damaging	Het
Trio	A	G	15: 27,844,930 (GRCm38)		probably benign	Het
Trmt12	T	A	15: 58,873,802 (GRCm38)	W350R	probably benign	Het
Ttc1	T	C	11: 43,738,821 (GRCm38)	T173A	probably benign	Het
Ttc39d	C	A	17: 80,216,446 (GRCm38)	T178K	probably damaging	Het
Ufl1	T	A	4: 25,250,534 (GRCm38)	E693V	possibly damaging	Het
Vamp2	G	T	11: 69,089,151 (GRCm38)	E16D	unknown	Het
Wdr70	C	T	15: 7,884,302 (GRCm38)	W622*	probably null	Het
Zfp28	C	T	7: 6,393,480 (GRCm38)	Q305*	probably null	Het
Zfp653	C	A	9: 22,055,783 (GRCm38)	R602L	probably damaging	Het
Zzef1	T	A	11: 72,872,649 (GRCm38)	V1374E	probably damaging	Het

Other mutations in Tnrc6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01312:Tnrc6b	APN	15	80,923,578 (GRCm38)	missense	probably damaging	1.00
IGL01402:Tnrc6b	APN	15	80,880,544 (GRCm38)	missense	possibly damaging	0.71
IGL01505:Tnrc6b	APN	15	80,879,963 (GRCm38)	missense	probably benign	0.00
IGL01516:Tnrc6b	APN	15	80,902,622 (GRCm38)	missense	possibly damaging	0.93
IGL01584:Tnrc6b	APN	15	80,879,682 (GRCm38)	missense	probably benign	0.01
IGL01681:Tnrc6b	APN	15	80,879,311 (GRCm38)	splice site	probably null
IGL01909:Tnrc6b	APN	15	80,901,983 (GRCm38)	missense	possibly damaging	0.88
IGL01943:Tnrc6b	APN	15	80,927,695 (GRCm38)	nonsense	probably null
IGL02253:Tnrc6b	APN	15	80,876,541 (GRCm38)	missense	probably damaging	0.99
IGL02260:Tnrc6b	APN	15	80,880,171 (GRCm38)	missense	probably damaging	0.99
IGL02437:Tnrc6b	APN	15	80,880,457 (GRCm38)	missense	probably damaging	1.00
IGL02542:Tnrc6b	APN	15	80,902,352 (GRCm38)	missense	possibly damaging	0.83
grosser	UTSW	15	80,929,285 (GRCm38)	missense	probably damaging	1.00
heiliger	UTSW	15	80,927,741 (GRCm38)	critical splice donor site	probably null
PIT1430001:Tnrc6b	UTSW	15	80,929,186 (GRCm38)	missense	probably damaging	0.99
R0092:Tnrc6b	UTSW	15	80,918,528 (GRCm38)	missense	probably damaging	1.00
R0165:Tnrc6b	UTSW	15	80,858,670 (GRCm38)	splice site	probably null
R0238:Tnrc6b	UTSW	15	80,887,864 (GRCm38)	missense	probably damaging	1.00
R0238:Tnrc6b	UTSW	15	80,887,864 (GRCm38)	missense	probably damaging	1.00
R0257:Tnrc6b	UTSW	15	80,894,355 (GRCm38)	missense	possibly damaging	0.80
R0418:Tnrc6b	UTSW	15	80,913,323 (GRCm38)	missense	probably benign	0.27
R0432:Tnrc6b	UTSW	15	80,923,446 (GRCm38)	splice site	probably benign
R0487:Tnrc6b	UTSW	15	80,880,675 (GRCm38)	missense	probably benign	0.01
R0498:Tnrc6b	UTSW	15	80,858,719 (GRCm38)	missense	probably damaging	0.98
R0528:Tnrc6b	UTSW	15	80,879,403 (GRCm38)	missense	probably benign	0.00
R0533:Tnrc6b	UTSW	15	80,876,653 (GRCm38)	missense	probably benign	0.00
R0571:Tnrc6b	UTSW	15	80,913,338 (GRCm38)	missense	probably damaging	1.00
R0650:Tnrc6b	UTSW	15	80,784,758 (GRCm38)	missense	probably benign	0.33
R0659:Tnrc6b	UTSW	15	80,923,446 (GRCm38)	splice site	probably benign
R0884:Tnrc6b	UTSW	15	80,902,555 (GRCm38)	small deletion	probably benign
R1131:Tnrc6b	UTSW	15	80,894,453 (GRCm38)	missense	possibly damaging	0.45
R1188:Tnrc6b	UTSW	15	80,879,229 (GRCm38)	missense	probably benign
R1479:Tnrc6b	UTSW	15	80,887,032 (GRCm38)	splice site	probably null
R1564:Tnrc6b	UTSW	15	80,880,168 (GRCm38)	missense	possibly damaging	0.95
R1645:Tnrc6b	UTSW	15	80,882,958 (GRCm38)	missense	probably damaging	0.99
R1924:Tnrc6b	UTSW	15	80,884,206 (GRCm38)	critical splice acceptor site	probably null
R1926:Tnrc6b	UTSW	15	80,881,162 (GRCm38)	missense	probably damaging	1.00
R1928:Tnrc6b	UTSW	15	80,880,723 (GRCm38)	missense	probably damaging	1.00
R1965:Tnrc6b	UTSW	15	80,880,439 (GRCm38)	missense	probably damaging	1.00
R1966:Tnrc6b	UTSW	15	80,880,439 (GRCm38)	missense	probably damaging	1.00
R2072:Tnrc6b	UTSW	15	80,882,965 (GRCm38)	missense	possibly damaging	0.89
R3084:Tnrc6b	UTSW	15	80,880,247 (GRCm38)	missense	probably damaging	1.00
R3552:Tnrc6b	UTSW	15	80,880,247 (GRCm38)	missense	probably damaging	1.00
R3736:Tnrc6b	UTSW	15	80,889,163 (GRCm38)	splice site	probably benign
R3791:Tnrc6b	UTSW	15	80,923,640 (GRCm38)	missense	probably damaging	1.00
R4170:Tnrc6b	UTSW	15	80,916,787 (GRCm38)	missense	probably benign	0.24
R4276:Tnrc6b	UTSW	15	80,901,971 (GRCm38)	missense	probably benign	0.42
R4519:Tnrc6b	UTSW	15	80,880,247 (GRCm38)	missense	probably damaging	1.00
R5380:Tnrc6b	UTSW	15	80,879,565 (GRCm38)	missense	possibly damaging	0.56
R5470:Tnrc6b	UTSW	15	80,916,711 (GRCm38)	missense	possibly damaging	0.89
R5590:Tnrc6b	UTSW	15	80,876,502 (GRCm38)	missense	probably damaging	0.98
R5982:Tnrc6b	UTSW	15	80,880,816 (GRCm38)	missense	probably benign
R6269:Tnrc6b	UTSW	15	80,880,743 (GRCm38)	missense	probably benign	0.42
R6331:Tnrc6b	UTSW	15	80,879,614 (GRCm38)	missense	probably benign	0.00
R6484:Tnrc6b	UTSW	15	80,879,324 (GRCm38)	missense	possibly damaging	0.92
R6622:Tnrc6b	UTSW	15	80,879,184 (GRCm38)	missense	probably damaging	0.99
R6695:Tnrc6b	UTSW	15	80,879,773 (GRCm38)	missense	probably damaging	1.00
R6728:Tnrc6b	UTSW	15	80,918,526 (GRCm38)	missense	probably damaging	1.00
R6776:Tnrc6b	UTSW	15	80,924,119 (GRCm38)	missense	possibly damaging	0.87
R7159:Tnrc6b	UTSW	15	80,887,022 (GRCm38)	missense	possibly damaging	0.92
R7210:Tnrc6b	UTSW	15	80,929,285 (GRCm38)	missense	probably damaging	1.00
R7287:Tnrc6b	UTSW	15	80,879,541 (GRCm38)	missense	possibly damaging	0.83
R7402:Tnrc6b	UTSW	15	80,884,300 (GRCm38)	missense	probably damaging	1.00
R7479:Tnrc6b	UTSW	15	80,889,126 (GRCm38)	missense	probably benign	0.13
R7533:Tnrc6b	UTSW	15	80,927,741 (GRCm38)	critical splice donor site	probably null
R7571:Tnrc6b	UTSW	15	80,929,393 (GRCm38)	missense	probably benign
R7594:Tnrc6b	UTSW	15	80,880,307 (GRCm38)	missense	possibly damaging	0.66
R7831:Tnrc6b	UTSW	15	80,880,379 (GRCm38)	missense	possibly damaging	0.49
R8208:Tnrc6b	UTSW	15	80,858,700 (GRCm38)	missense	possibly damaging	0.53
R8276:Tnrc6b	UTSW	15	80,880,717 (GRCm38)	missense	probably benign	0.00
R8295:Tnrc6b	UTSW	15	80,913,364 (GRCm38)	missense	probably damaging	1.00
R8351:Tnrc6b	UTSW	15	80,923,490 (GRCm38)	missense	probably damaging	0.99
R8423:Tnrc6b	UTSW	15	80,929,418 (GRCm38)	missense	unknown
R8451:Tnrc6b	UTSW	15	80,923,490 (GRCm38)	missense	probably damaging	0.99
R8725:Tnrc6b	UTSW	15	80,876,452 (GRCm38)	missense	probably damaging	1.00
R8872:Tnrc6b	UTSW	15	80,918,089 (GRCm38)	missense	probably benign	0.23
R9029:Tnrc6b	UTSW	15	80,878,978 (GRCm38)	missense	possibly damaging	0.83
R9057:Tnrc6b	UTSW	15	80,879,148 (GRCm38)	missense	probably benign
R9240:Tnrc6b	UTSW	15	80,880,061 (GRCm38)	missense	probably damaging	0.98
R9450:Tnrc6b	UTSW	15	80,880,436 (GRCm38)	missense	probably benign	0.01
R9539:Tnrc6b	UTSW	15	80,876,343 (GRCm38)	missense	probably damaging	0.99
R9646:Tnrc6b	UTSW	15	80,889,065 (GRCm38)	missense	possibly damaging	0.89
X0020:Tnrc6b	UTSW	15	80,882,997 (GRCm38)	missense	probably benign	0.16
X0025:Tnrc6b	UTSW	15	80,881,167 (GRCm38)	missense	probably benign	0.03
Z1088:Tnrc6b	UTSW	15	80,927,690 (GRCm38)	nonsense	probably null
Z1177:Tnrc6b	UTSW	15	80,858,699 (GRCm38)	missense	possibly damaging	0.68

Posted On

2015-04-16