Mutagenetix > Incidental Mutation

Incidental Mutation 'R6622:Tnrc6b'

524564

Institutional Source

Beutler Lab

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: 0.191) question?

Stock #

R6622 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80595514-80825286 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80763385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 296 (W296R)

Ref Sequence

ENSEMBL: ENSMUSP00000064336 (fasta)

Gene Model

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

AlphaFold

Q8BKI2

Predicted Effect

probably damaging
Transcript: ENSMUST00000067689
AA Change: W296R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000064336
Gene: ENSMUSG00000047888
AA Change: W296R

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	A	C	5: 81,942,606 (GRCm39)	D1412A	probably benign	Het
Arhgap26	A	G	18: 39,032,916 (GRCm39)		probably benign	Het
Card14	A	G	11: 119,224,814 (GRCm39)	M614V	probably benign	Het
Cbx2	A	G	11: 118,919,961 (GRCm39)	T509A	probably damaging	Het
Cep135	A	G	5: 76,788,815 (GRCm39)	D1136G	probably benign	Het
Cep170	T	A	1: 176,583,898 (GRCm39)	Q827L	probably damaging	Het
Clock	A	T	5: 76,389,801 (GRCm39)	I349K	probably damaging	Het
Cnppd1	A	T	1: 75,113,539 (GRCm39)	V243E	probably damaging	Het
Cops3	A	G	11: 59,723,960 (GRCm39)	F93L	probably damaging	Het
Cplane1	C	A	15: 8,273,706 (GRCm39)	A2563D	probably damaging	Het
Cxxc5	T	G	18: 35,992,372 (GRCm39)	C258G	possibly damaging	Het
Cycs	G	A	6: 50,543,443 (GRCm39)		probably benign	Het
Cyp2c40	A	T	19: 39,790,990 (GRCm39)	H280Q	probably damaging	Het
Cyp4f14	C	T	17: 33,133,619 (GRCm39)	R79H	probably benign	Het
Dnajc27	A	G	12: 4,153,114 (GRCm39)	S197G	probably benign	Het
Dscam	C	T	16: 96,446,273 (GRCm39)	G1456E	probably benign	Het
Dst	G	A	1: 34,218,332 (GRCm39)	V1591I	probably benign	Het
Epha5	A	G	5: 84,385,387 (GRCm39)	S315P	possibly damaging	Het
Frmd4a	A	G	2: 4,610,873 (GRCm39)	T1012A	probably benign	Het
Fxr2	G	A	11: 69,532,416 (GRCm39)		probably null	Het
Hcn4	T	A	9: 58,765,010 (GRCm39)	V534E	unknown	Het
Hrh4	A	G	18: 13,155,454 (GRCm39)	Y331C	probably damaging	Het
Insyn1	A	G	9: 58,406,533 (GRCm39)	I148V	probably benign	Het
Kif16b	T	A	2: 142,554,362 (GRCm39)	H812L	probably benign	Het
Krt14	T	A	11: 100,094,786 (GRCm39)	R451S	probably benign	Het
Man2b1	A	G	8: 85,811,108 (GRCm39)	T80A	probably damaging	Het
Nedd4l	A	G	18: 65,307,305 (GRCm39)	T383A	probably damaging	Het
Pcdha9	T	A	18: 37,131,707 (GRCm39)	L259M	possibly damaging	Het
Pdgfd	T	C	9: 6,293,818 (GRCm39)	C131R	probably damaging	Het
Prrc2a	C	G	17: 35,374,396 (GRCm39)	R1418P	probably damaging	Het
Ptpra	G	T	2: 30,327,589 (GRCm39)	E114D	probably damaging	Het
Ptprt	A	T	2: 161,395,760 (GRCm39)	C1157S	probably damaging	Het
Rnf126	A	T	10: 79,597,397 (GRCm39)		probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Sel1l3	A	G	5: 53,297,202 (GRCm39)	V748A	probably damaging	Het
Serinc5	T	A	13: 92,825,194 (GRCm39)	S208T	probably benign	Het
Sftpb	A	G	6: 72,282,639 (GRCm39)	I74V	possibly damaging	Het
Slc22a14	A	C	9: 118,999,643 (GRCm39)	I516S	possibly damaging	Het
Slco2a1	G	A	9: 102,951,704 (GRCm39)	C411Y	possibly damaging	Het
Spata31f1e	T	A	4: 42,793,111 (GRCm39)	L340F	probably damaging	Het
Tent5a	G	T	9: 85,208,509 (GRCm39)	R105S	probably damaging	Het
Tet3	G	A	6: 83,380,426 (GRCm39)	P581S	probably benign	Het
Tmem231	T	C	8: 112,645,563 (GRCm39)	D112G	probably damaging	Het
Trpm1	T	A	7: 63,890,343 (GRCm39)	L982H	probably damaging	Het
Ttn	C	A	2: 76,550,862 (GRCm39)	R23183I	possibly damaging	Het
Tuft1	T	A	3: 94,542,726 (GRCm39)	Y46F	probably damaging	Het
Vmn1r167	T	A	7: 23,205,014 (GRCm39)	M1L	probably null	Het
Zfp808	A	G	13: 62,319,646 (GRCm39)	R292G	possibly damaging	Het
Zp2	T	C	7: 119,731,748 (GRCm39)	E669G	probably benign	Het
Zp2	C	T	7: 119,741,136 (GRCm39)	M129I	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGTAGACGGGTCTGACATGG -3'
(R):5'- AATGCCCCTTTTCTAGAAGTCC -3'

Sequencing Primer
(F):5'- CTGACATGGAAGAGTGGCCTTG -3'
(R):5'- CCCTTCTTGGACCAATGCTG -3'

Posted On

2018-06-22