Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01943:Tnrc6b'

180930

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tnrc6b

Ensembl Gene

ENSMUSG00000047888

Gene Name

trinucleotide repeat containing 6b

Synonyms

2700090M07Rik, A730065C02Rik, D230019K20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

IGL01943

Quality Score

Status

Chromosome

Chromosomal Location

80595514-80825286 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 80811896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 814 (Y814*)

Gene Model

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

AlphaFold

Q8BKI2

Predicted Effect

probably null
Transcript: ENSMUST00000067689
AA Change: Y1667*

SMART Domains

Protein: ENSMUSP00000064336
Gene: ENSMUSG00000047888
AA Change: Y1667*

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

probably null
Transcript: ENSMUST00000228124
AA Change: Y814*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228525

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16a	A	G	17: 35,315,459 (GRCm39)	K169E	probably benign	Het
Ago4	A	G	4: 126,410,988 (GRCm39)	V167A	probably damaging	Het
Bcam	C	T	7: 19,499,423 (GRCm39)	R200H	probably damaging	Het
Cblb	G	A	16: 51,959,996 (GRCm39)		probably null	Het
Cdc37	T	C	9: 21,054,409 (GRCm39)	E72G	probably benign	Het
Chek2	T	A	5: 110,989,093 (GRCm39)		probably benign	Het
Col6a1	A	T	10: 76,554,957 (GRCm39)		probably null	Het
Col7a1	A	G	9: 108,813,084 (GRCm39)		probably null	Het
Ecpas	A	G	4: 58,849,937 (GRCm39)	F429L	possibly damaging	Het
Fmo3	C	T	1: 162,794,575 (GRCm39)	R165H	probably benign	Het
Gm2663	C	T	6: 40,973,010 (GRCm39)	G199D	probably damaging	Het
Gm8108	T	C	14: 4,127,217 (GRCm38)	S134P	probably damaging	Het
Kif1b	A	T	4: 149,299,362 (GRCm39)		probably null	Het
Krt76	T	A	15: 101,797,480 (GRCm39)	D293V	probably null	Het
Lifr	T	A	15: 7,217,630 (GRCm39)	C853S	probably damaging	Het
Muc5b	A	T	7: 141,415,234 (GRCm39)	I2727F	possibly damaging	Het
Myo7a	T	C	7: 97,714,854 (GRCm39)	K1606R	possibly damaging	Het
Noxred1	G	T	12: 87,269,955 (GRCm39)	Q259K	probably benign	Het
Obox3	C	T	7: 15,360,777 (GRCm39)	E121K	probably benign	Het
Or14j1	G	A	17: 38,145,944 (GRCm39)	R18H	probably benign	Het
Or1j19	T	C	2: 36,677,095 (GRCm39)	I186T	probably benign	Het
Or2y16	T	A	11: 49,335,015 (GRCm39)	C112*	probably null	Het
Or5b24	T	C	19: 12,913,038 (GRCm39)	L312S	probably benign	Het
Phf11	A	T	14: 59,488,611 (GRCm39)	V62E	probably damaging	Het
Pkd2l2	T	C	18: 34,550,089 (GRCm39)	F245L	probably damaging	Het
Pla2g6	T	C	15: 79,197,316 (GRCm39)	Q86R	probably null	Het
Polq	T	A	16: 36,881,805 (GRCm39)	I1044K	possibly damaging	Het
Pomgnt2	G	T	9: 121,811,536 (GRCm39)	T415N	probably benign	Het
Pprc1	T	A	19: 46,052,983 (GRCm39)		probably benign	Het
Prol1	T	A	5: 88,475,820 (GRCm39)	M70K	probably benign	Het
Ptpn22	T	A	3: 103,793,652 (GRCm39)	V601E	probably benign	Het
Slc16a3	T	C	11: 120,847,709 (GRCm39)		probably null	Het
Slco1b2	A	G	6: 141,622,012 (GRCm39)	D489G	possibly damaging	Het
Sphk2	T	C	7: 45,360,148 (GRCm39)		probably benign	Het
Stat4	C	T	1: 52,136,014 (GRCm39)	T441I	possibly damaging	Het
Tle1	A	T	4: 72,040,639 (GRCm39)	V647E	probably damaging	Het
Tubgcp3	A	G	8: 12,704,301 (GRCm39)	F256S	probably damaging	Het
Uqcrb	A	T	13: 67,050,827 (GRCm39)		probably null	Het
Vmn1r200	A	T	13: 22,580,097 (GRCm39)	E300V	possibly damaging	Het
Zfp324	C	T	7: 12,702,713 (GRCm39)		probably benign	Het
Zxdc	T	C	6: 90,349,520 (GRCm39)		probably benign	Het

Other mutations in Tnrc6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01312:Tnrc6b	APN	15	80,807,779 (GRCm39)	missense	probably damaging	1.00
IGL01402:Tnrc6b	APN	15	80,764,745 (GRCm39)	missense	possibly damaging	0.71
IGL01505:Tnrc6b	APN	15	80,764,164 (GRCm39)	missense	probably benign	0.00
IGL01516:Tnrc6b	APN	15	80,786,823 (GRCm39)	missense	possibly damaging	0.93
IGL01584:Tnrc6b	APN	15	80,763,883 (GRCm39)	missense	probably benign	0.01
IGL01681:Tnrc6b	APN	15	80,763,512 (GRCm39)	splice site	probably null
IGL01909:Tnrc6b	APN	15	80,786,184 (GRCm39)	missense	possibly damaging	0.88
IGL02253:Tnrc6b	APN	15	80,760,742 (GRCm39)	missense	probably damaging	0.99
IGL02260:Tnrc6b	APN	15	80,764,372 (GRCm39)	missense	probably damaging	0.99
IGL02437:Tnrc6b	APN	15	80,764,658 (GRCm39)	missense	probably damaging	1.00
IGL02541:Tnrc6b	APN	15	80,764,032 (GRCm39)	missense	probably benign	0.00
IGL02542:Tnrc6b	APN	15	80,786,553 (GRCm39)	missense	possibly damaging	0.83
grosser	UTSW	15	80,813,486 (GRCm39)	missense	probably damaging	1.00
heiliger	UTSW	15	80,811,942 (GRCm39)	critical splice donor site	probably null
PIT1430001:Tnrc6b	UTSW	15	80,813,387 (GRCm39)	missense	probably damaging	0.99
R0092:Tnrc6b	UTSW	15	80,802,729 (GRCm39)	missense	probably damaging	1.00
R0165:Tnrc6b	UTSW	15	80,742,871 (GRCm39)	splice site	probably null
R0238:Tnrc6b	UTSW	15	80,772,065 (GRCm39)	missense	probably damaging	1.00
R0238:Tnrc6b	UTSW	15	80,772,065 (GRCm39)	missense	probably damaging	1.00
R0257:Tnrc6b	UTSW	15	80,778,556 (GRCm39)	missense	possibly damaging	0.80
R0418:Tnrc6b	UTSW	15	80,797,524 (GRCm39)	missense	probably benign	0.27
R0432:Tnrc6b	UTSW	15	80,807,647 (GRCm39)	splice site	probably benign
R0487:Tnrc6b	UTSW	15	80,764,876 (GRCm39)	missense	probably benign	0.01
R0498:Tnrc6b	UTSW	15	80,742,920 (GRCm39)	missense	probably damaging	0.98
R0528:Tnrc6b	UTSW	15	80,763,604 (GRCm39)	missense	probably benign	0.00
R0533:Tnrc6b	UTSW	15	80,760,854 (GRCm39)	missense	probably benign	0.00
R0571:Tnrc6b	UTSW	15	80,797,539 (GRCm39)	missense	probably damaging	1.00
R0650:Tnrc6b	UTSW	15	80,668,959 (GRCm39)	missense	probably benign	0.33
R0659:Tnrc6b	UTSW	15	80,807,647 (GRCm39)	splice site	probably benign
R0884:Tnrc6b	UTSW	15	80,786,756 (GRCm39)	small deletion	probably benign
R1131:Tnrc6b	UTSW	15	80,778,654 (GRCm39)	missense	possibly damaging	0.45
R1188:Tnrc6b	UTSW	15	80,763,430 (GRCm39)	missense	probably benign
R1479:Tnrc6b	UTSW	15	80,771,233 (GRCm39)	splice site	probably null
R1564:Tnrc6b	UTSW	15	80,764,369 (GRCm39)	missense	possibly damaging	0.95
R1645:Tnrc6b	UTSW	15	80,767,159 (GRCm39)	missense	probably damaging	0.99
R1924:Tnrc6b	UTSW	15	80,768,407 (GRCm39)	critical splice acceptor site	probably null
R1926:Tnrc6b	UTSW	15	80,765,363 (GRCm39)	missense	probably damaging	1.00
R1928:Tnrc6b	UTSW	15	80,764,924 (GRCm39)	missense	probably damaging	1.00
R1965:Tnrc6b	UTSW	15	80,764,640 (GRCm39)	missense	probably damaging	1.00
R1966:Tnrc6b	UTSW	15	80,764,640 (GRCm39)	missense	probably damaging	1.00
R2072:Tnrc6b	UTSW	15	80,767,166 (GRCm39)	missense	possibly damaging	0.89
R3084:Tnrc6b	UTSW	15	80,764,448 (GRCm39)	missense	probably damaging	1.00
R3552:Tnrc6b	UTSW	15	80,764,448 (GRCm39)	missense	probably damaging	1.00
R3736:Tnrc6b	UTSW	15	80,773,364 (GRCm39)	splice site	probably benign
R3791:Tnrc6b	UTSW	15	80,807,841 (GRCm39)	missense	probably damaging	1.00
R4170:Tnrc6b	UTSW	15	80,800,988 (GRCm39)	missense	probably benign	0.24
R4276:Tnrc6b	UTSW	15	80,786,172 (GRCm39)	missense	probably benign	0.42
R4519:Tnrc6b	UTSW	15	80,764,448 (GRCm39)	missense	probably damaging	1.00
R5380:Tnrc6b	UTSW	15	80,763,766 (GRCm39)	missense	possibly damaging	0.56
R5470:Tnrc6b	UTSW	15	80,800,912 (GRCm39)	missense	possibly damaging	0.89
R5590:Tnrc6b	UTSW	15	80,760,703 (GRCm39)	missense	probably damaging	0.98
R5982:Tnrc6b	UTSW	15	80,765,017 (GRCm39)	missense	probably benign
R6269:Tnrc6b	UTSW	15	80,764,944 (GRCm39)	missense	probably benign	0.42
R6331:Tnrc6b	UTSW	15	80,763,815 (GRCm39)	missense	probably benign	0.00
R6484:Tnrc6b	UTSW	15	80,763,525 (GRCm39)	missense	possibly damaging	0.92
R6622:Tnrc6b	UTSW	15	80,763,385 (GRCm39)	missense	probably damaging	0.99
R6695:Tnrc6b	UTSW	15	80,763,974 (GRCm39)	missense	probably damaging	1.00
R6728:Tnrc6b	UTSW	15	80,802,727 (GRCm39)	missense	probably damaging	1.00
R6776:Tnrc6b	UTSW	15	80,808,320 (GRCm39)	missense	possibly damaging	0.87
R7159:Tnrc6b	UTSW	15	80,771,223 (GRCm39)	missense	possibly damaging	0.92
R7210:Tnrc6b	UTSW	15	80,813,486 (GRCm39)	missense	probably damaging	1.00
R7287:Tnrc6b	UTSW	15	80,763,742 (GRCm39)	missense	possibly damaging	0.83
R7402:Tnrc6b	UTSW	15	80,768,501 (GRCm39)	missense	probably damaging	1.00
R7479:Tnrc6b	UTSW	15	80,773,327 (GRCm39)	missense	probably benign	0.13
R7533:Tnrc6b	UTSW	15	80,811,942 (GRCm39)	critical splice donor site	probably null
R7571:Tnrc6b	UTSW	15	80,813,594 (GRCm39)	missense	probably benign
R7594:Tnrc6b	UTSW	15	80,764,508 (GRCm39)	missense	possibly damaging	0.66
R7831:Tnrc6b	UTSW	15	80,764,580 (GRCm39)	missense	possibly damaging	0.49
R8208:Tnrc6b	UTSW	15	80,742,901 (GRCm39)	missense	possibly damaging	0.53
R8276:Tnrc6b	UTSW	15	80,764,918 (GRCm39)	missense	probably benign	0.00
R8295:Tnrc6b	UTSW	15	80,797,565 (GRCm39)	missense	probably damaging	1.00
R8351:Tnrc6b	UTSW	15	80,807,691 (GRCm39)	missense	probably damaging	0.99
R8423:Tnrc6b	UTSW	15	80,813,619 (GRCm39)	missense	unknown
R8451:Tnrc6b	UTSW	15	80,807,691 (GRCm39)	missense	probably damaging	0.99
R8725:Tnrc6b	UTSW	15	80,760,653 (GRCm39)	missense	probably damaging	1.00
R8872:Tnrc6b	UTSW	15	80,802,290 (GRCm39)	missense	probably benign	0.23
R9029:Tnrc6b	UTSW	15	80,763,179 (GRCm39)	missense	possibly damaging	0.83
R9057:Tnrc6b	UTSW	15	80,763,349 (GRCm39)	missense	probably benign
R9240:Tnrc6b	UTSW	15	80,764,262 (GRCm39)	missense	probably damaging	0.98
R9450:Tnrc6b	UTSW	15	80,764,637 (GRCm39)	missense	probably benign	0.01
R9539:Tnrc6b	UTSW	15	80,760,544 (GRCm39)	missense	probably damaging	0.99
R9646:Tnrc6b	UTSW	15	80,773,266 (GRCm39)	missense	possibly damaging	0.89
X0020:Tnrc6b	UTSW	15	80,767,198 (GRCm39)	missense	probably benign	0.16
X0025:Tnrc6b	UTSW	15	80,765,368 (GRCm39)	missense	probably benign	0.03
Z1088:Tnrc6b	UTSW	15	80,811,891 (GRCm39)	nonsense	probably null
Z1177:Tnrc6b	UTSW	15	80,742,900 (GRCm39)	missense	possibly damaging	0.68

Posted On

2014-05-07