Mutagenetix > Incidental Mutation

Incidental Mutation 'R5380:Tnrc6b'

425823

Institutional Source

Beutler Lab

Gene Symbol

Tnrc6b

Ensembl Gene

ENSMUSG00000047888

Gene Name

trinucleotide repeat containing 6b

Synonyms

2700090M07Rik, A730065C02Rik, D230019K20Rik

MMRRC Submission

042955-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R5380 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80595514-80825286 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 80763766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Alanine at position 423 (P423A)

Ref Sequence

ENSEMBL: ENSMUSP00000064336 (fasta)

Gene Model

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

AlphaFold

Q8BKI2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067689
AA Change: P423A

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000064336
Gene: ENSMUSG00000047888
AA Change: P423A

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

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	A	T	4: 40,177,848 (GRCm39)	I290F	probably damaging	Het
Cfap107	A	T	4: 144,150,372 (GRCm39)	W70R	probably damaging	Het
Cmip	T	A	8: 118,149,629 (GRCm39)	C155S	probably damaging	Het
Cyba	G	T	8: 123,153,718 (GRCm39)	P82T	possibly damaging	Het
Dgkb	C	T	12: 38,177,299 (GRCm39)	R202W	possibly damaging	Het
Dnah6	T	C	6: 73,014,598 (GRCm39)	E3611G	probably damaging	Het
Dnah7b	A	T	1: 46,256,351 (GRCm39)	S1885C	probably benign	Het
Dop1b	A	G	16: 93,560,298 (GRCm39)	E748G	probably damaging	Het
Dusp18	C	A	11: 3,847,037 (GRCm39)	P9Q	probably damaging	Het
Fat4	T	A	3: 38,943,013 (GRCm39)	D635E	probably damaging	Het
Fbxo25	T	A	8: 13,971,886 (GRCm39)	S79R	probably benign	Het
Fgfr4	T	A	13: 55,315,230 (GRCm39)	L675Q	probably damaging	Het
Foxo1	T	A	3: 52,176,446 (GRCm39)	L75Q	probably damaging	Het
Fsip2	T	C	2: 82,805,742 (GRCm39)	V687A	possibly damaging	Het
Gga3	G	T	11: 115,479,257 (GRCm39)	P354Q	probably damaging	Het
Gm11077	A	T	6: 140,675,048 (GRCm39)	K13N	unknown	Het
Haus4	T	A	14: 54,787,232 (GRCm39)	K75M	probably damaging	Het
Igfn1	G	A	1: 135,893,825 (GRCm39)	T2085M	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Lims1	A	T	10: 58,252,492 (GRCm39)	I321L	probably damaging	Het
Ms4a6b	A	T	19: 11,499,044 (GRCm39)	I53F	probably damaging	Het
Msl3l2	A	G	10: 55,991,668 (GRCm39)	D131G	probably damaging	Het
Nrap	A	G	19: 56,370,035 (GRCm39)	V189A	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pfkl	T	G	10: 77,833,423 (GRCm39)	I260L	possibly damaging	Het
Pkd2l1	A	G	19: 44,146,171 (GRCm39)	Y128H	probably benign	Het
Prpf6	T	A	2: 181,250,059 (GRCm39)	L73Q	probably damaging	Het
R3hdm2	T	C	10: 127,321,316 (GRCm39)	V658A	probably damaging	Het
Rab27b	T	C	18: 70,129,226 (GRCm39)	T23A	probably damaging	Het
Rabif	A	G	1: 134,433,980 (GRCm39)	E98G	probably damaging	Het
Ror2	T	C	13: 53,271,185 (GRCm39)	D378G	possibly damaging	Het
Spata21	A	G	4: 140,834,496 (GRCm39)	T494A	probably damaging	Het
Ssh2	A	G	11: 77,344,771 (GRCm39)	K919E	probably benign	Het
Tomm40	A	G	7: 19,435,675 (GRCm39)	F352L	probably benign	Het
Tsg101	A	T	7: 46,540,868 (GRCm39)	D158E	probably damaging	Het
Tspo2	A	G	17: 48,755,780 (GRCm39)	F93L	probably benign	Het
V1ra8	T	A	6: 90,180,004 (GRCm39)	I69K	probably damaging	Het
Zan	T	C	5: 137,456,102 (GRCm39)	T1353A	unknown	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfp281	A	G	1: 136,553,676 (GRCm39)	K218R	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- GCCAGCATTGGTCCAAGAAG -3'
(R):5'- TTTCCAGAATTGCTTTGTCCAGAG -3'

Sequencing Primer
(F):5'- CATTGGAAACAGAAAGTAGTAGTTCC -3'
(R):5'- TCCAGAGACTGTGTCAGTTCCAG -3'

Posted On

2016-08-04