Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01505:Tnrc6b'

89037

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 #

IGL01505

Quality Score

Status

Chromosome

Chromosomal Location

80595514-80825286 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80764164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 555 (D555E)

Ref Sequence

ENSEMBL: ENSMUSP00000064336 (fasta)

Gene Model

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

AlphaFold

Q8BKI2

Predicted Effect

probably benign
Transcript: ENSMUST00000067689
AA Change: D555E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000064336
Gene: ENSMUSG00000047888
AA Change: D555E

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	T	C	18: 69,080,418 (GRCm39)		probably null	Het
A2m	A	G	6: 121,653,906 (GRCm39)	N1413S	possibly damaging	Het
Aadacl4fm4	C	T	4: 144,401,188 (GRCm39)	V99M	probably damaging	Het
Arhgap45	A	T	10: 79,862,376 (GRCm39)	N488Y	probably benign	Het
Arid4a	G	A	12: 71,083,889 (GRCm39)	D94N	probably damaging	Het
Atp7a	A	G	X: 105,153,436 (GRCm39)	K1114E	probably damaging	Het
Atp8a2	C	T	14: 60,265,512 (GRCm39)	V275M	probably benign	Het
Ceacam12	T	C	7: 17,801,357 (GRCm39)	V112A	probably damaging	Het
Cep295	T	A	9: 15,229,345 (GRCm39)	D2256V	probably benign	Het
Chid1	A	T	7: 141,093,807 (GRCm39)		probably null	Het
Clcn5	A	T	X: 7,036,678 (GRCm39)	L268*	probably null	Het
Cldn17	A	G	16: 88,303,591 (GRCm39)	I46T	possibly damaging	Het
Cnot1	A	T	8: 96,455,346 (GRCm39)	I2025N	probably damaging	Het
Cntn5	C	T	9: 9,706,092 (GRCm39)	V574M	probably damaging	Het
Col14a1	T	A	15: 55,318,619 (GRCm39)	C1373S	unknown	Het
Col9a1	A	G	1: 24,224,205 (GRCm39)	N129S	unknown	Het
Cp	C	T	3: 20,031,356 (GRCm39)	P598S	possibly damaging	Het
Cpb1	G	A	3: 20,320,410 (GRCm39)	R150C	probably damaging	Het
Cyp2j7	T	A	4: 96,115,917 (GRCm39)		probably null	Het
Dnajb7	T	C	15: 81,291,692 (GRCm39)	E215G	possibly damaging	Het
Dock1	G	A	7: 134,760,239 (GRCm39)	R1634Q	possibly damaging	Het
Dop1b	A	G	16: 93,554,004 (GRCm39)	T313A	possibly damaging	Het
Fgd2	T	A	17: 29,585,971 (GRCm39)	V185E	probably damaging	Het
Flnb	T	C	14: 7,902,003 (GRCm38)		probably null	Het
Fzd7	A	G	1: 59,523,062 (GRCm39)	E315G	probably benign	Het
Gjd3	T	A	11: 102,691,552 (GRCm39)	K150N	probably benign	Het
Gpihbp1	C	T	15: 75,469,977 (GRCm39)		probably benign	Het
Gpr160	T	C	3: 30,950,002 (GRCm39)	S25P	possibly damaging	Het
Grsf1	G	A	5: 88,820,608 (GRCm39)	R58*	probably null	Het
Ifit1	T	A	19: 34,625,854 (GRCm39)	M330K	probably benign	Het
Igkv1-122	T	C	6: 67,994,178 (GRCm39)	V22A	probably benign	Het
Ikbke	A	T	1: 131,183,048 (GRCm39)	D692E	probably benign	Het
Il15ra	T	C	2: 11,737,956 (GRCm39)		probably benign	Het
Il18rap	A	G	1: 40,576,244 (GRCm39)	I252V	probably damaging	Het
Klra10	C	T	6: 130,249,680 (GRCm39)	G202R	probably damaging	Het
Kpna7	A	G	5: 144,929,661 (GRCm39)	V388A	probably damaging	Het
L2hgdh	A	G	12: 69,768,175 (GRCm39)	S108P	probably damaging	Het
Msto1	G	A	3: 88,818,050 (GRCm39)	T388M	probably benign	Het
Naip1	T	C	13: 100,562,441 (GRCm39)	E908G	probably damaging	Het
Neto1	C	A	18: 86,491,814 (GRCm39)	D238E	possibly damaging	Het
Nlrp5	T	A	7: 23,117,159 (GRCm39)	D294E	probably benign	Het
Nr3c2	T	C	8: 77,635,816 (GRCm39)	S306P	probably damaging	Het
Or8b41	T	A	9: 38,055,167 (GRCm39)	C240*	probably null	Het
Pard3	T	A	8: 128,050,544 (GRCm39)	L202H	probably damaging	Het
Pdzd2	T	C	15: 12,458,293 (GRCm39)	N190S	probably damaging	Het
Pi4ka	T	C	16: 17,127,222 (GRCm39)	D1077G	probably benign	Het
Pmfbp1	A	C	8: 110,240,543 (GRCm39)	L208F	probably damaging	Het
Pms1	C	T	1: 53,246,130 (GRCm39)	D470N	probably benign	Het
Prdm10	T	C	9: 31,238,578 (GRCm39)	F108L	probably benign	Het
Rab11fip1	A	T	8: 27,644,804 (GRCm39)	M327K	possibly damaging	Het
Slc37a4	T	A	9: 44,311,261 (GRCm39)	L184Q	probably damaging	Het
Smdt1	T	C	15: 82,232,094 (GRCm39)		probably benign	Het
Smg6	A	G	11: 75,047,117 (GRCm39)	Y1270C	probably damaging	Het
Speer4f2	T	A	5: 17,581,565 (GRCm39)	V169E	possibly damaging	Het
Stpg2	C	T	3: 139,023,214 (GRCm39)	A410V	probably benign	Het
Tsg101	A	G	7: 46,558,808 (GRCm39)	Y46H	probably damaging	Het
Vmn2r111	G	A	17: 22,767,553 (GRCm39)	S648L	probably benign	Het
Vmn2r73	T	A	7: 85,507,267 (GRCm39)	R682*	probably null	Het
Xkr5	A	T	8: 18,983,514 (GRCm39)	I676N	probably damaging	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
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
IGL01943:Tnrc6b	APN	15	80,811,896 (GRCm39)	nonsense	probably null
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

2013-12-03