Mutagenetix > Incidental Mutation

Incidental Mutation 'R9450:Tnrc6b'

714218

Institutional Source

Beutler Lab

Gene Symbol

Tnrc6b

Ensembl Gene

ENSMUSG00000047888

Gene Name

trinucleotide repeat containing 6b

Synonyms

2700090M07Rik, A730065C02Rik, D230019K20Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9450 (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 80764637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 713 (M713K)

Ref Sequence

ENSEMBL: ENSMUSP00000064336 (fasta)

Gene Model

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

AlphaFold

Q8BKI2

Predicted Effect

probably benign
Transcript: ENSMUST00000067689
AA Change: M713K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000064336
Gene: ENSMUSG00000047888
AA Change: M713K

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 benign
Transcript: ENSMUST00000228124

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
2810004N23Rik	T	C	8: 125,567,215 (GRCm39)	K229E	probably damaging	Het
Abca8b	T	C	11: 109,859,930 (GRCm39)	T523A	probably damaging	Het
Adamts18	G	T	8: 114,490,942 (GRCm39)	D508E	probably benign	Het
Arap2	T	C	5: 62,855,762 (GRCm39)	E558G	probably benign	Het
Arid4a	A	T	12: 71,119,374 (GRCm39)	D331V		Het
Ash1l	A	T	3: 88,915,139 (GRCm39)	K1923M	possibly damaging	Het
Atad2b	T	A	12: 5,063,859 (GRCm39)	S947T	probably benign	Het
B4galt1	A	T	4: 40,853,804 (GRCm39)	M1K	probably null	Het
Ccpg1	G	A	9: 72,904,703 (GRCm39)	S4N	unknown	Het
Cfap43	A	T	19: 47,886,310 (GRCm39)	L102M	probably benign	Het
Clic6	T	C	16: 92,327,644 (GRCm39)	I483T	possibly damaging	Het
Col6a6	A	T	9: 105,661,373 (GRCm39)	D245E	probably benign	Het
Cpsf7	G	A	19: 10,518,213 (GRCm39)		probably null	Het
Depdc5	A	G	5: 33,091,354 (GRCm39)	D721G	probably benign	Het
Dhx29	C	T	13: 113,083,862 (GRCm39)	T639I	possibly damaging	Het
Dock7	T	C	4: 98,861,426 (GRCm39)	E1397G	unknown	Het
Dsp	C	T	13: 38,376,379 (GRCm39)	T1388M	probably damaging	Het
Fam186b	C	T	15: 99,183,425 (GRCm39)	G73D	probably damaging	Het
Ganab	A	G	19: 8,893,076 (GRCm39)	D960G	probably damaging	Het
Gria1	T	C	11: 57,200,615 (GRCm39)	V764A	probably damaging	Het
Grk3	T	C	5: 113,062,913 (GRCm39)	K645E	probably benign	Het
Hecw2	A	T	1: 53,878,188 (GRCm39)	Y1339*	probably null	Het
Hmcn2	C	A	2: 31,316,845 (GRCm39)	T3808N	probably damaging	Het
Il20rb	A	T	9: 100,355,055 (GRCm39)	N129K	possibly damaging	Het
Iqca1l	T	A	5: 24,754,447 (GRCm39)	I395F	probably benign	Het
Itgb4	T	C	11: 115,874,097 (GRCm39)	Y340H	probably damaging	Het
Itgb6	T	C	2: 60,458,372 (GRCm39)	I460M	probably benign	Het
Kat14	T	C	2: 144,242,739 (GRCm39)	I599T	possibly damaging	Het
Kif1b	A	C	4: 149,322,467 (GRCm39)	D817E	probably benign	Het
Lamb2	T	A	9: 108,357,760 (GRCm39)	C94*	probably null	Het
Larp1	T	C	11: 57,941,890 (GRCm39)	S743P	probably damaging	Het
Ldlrap1	T	C	4: 134,474,490 (GRCm39)	N267S	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Ltf	T	C	9: 110,851,064 (GRCm39)	L92P	probably damaging	Het
Ly6g2	T	A	15: 75,092,574 (GRCm39)	C98S	probably damaging	Het
Mns1	C	A	9: 72,359,890 (GRCm39)	Q347K	probably benign	Het
Myof	A	T	19: 37,949,374 (GRCm39)	F611I	probably damaging	Het
Nop56	T	C	2: 130,117,601 (GRCm39)	L76P	probably damaging	Het
Nphp1	T	C	2: 127,616,008 (GRCm39)	H114R		Het
Or10g3	G	C	14: 52,610,110 (GRCm39)	Y133*	probably null	Het
Or1e30	C	A	11: 73,678,101 (GRCm39)	N112K	possibly damaging	Het
Or4k36	T	A	2: 111,146,398 (GRCm39)	N191K	probably benign	Het
Pcdha12	A	G	18: 37,153,992 (GRCm39)	D237G	probably damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Pitpnm3	A	T	11: 71,952,412 (GRCm39)	M593K	possibly damaging	Het
Plxdc1	C	T	11: 97,845,681 (GRCm39)	V211I	probably damaging	Het
Prkn	C	A	17: 12,057,521 (GRCm39)	H301N	possibly damaging	Het
Prpf38a	A	T	4: 108,430,072 (GRCm39)	H143Q	probably damaging	Het
Sdk2	T	C	11: 113,697,105 (GRCm39)	T1769A	probably benign	Het
Spata31f1e	G	T	4: 42,793,833 (GRCm39)	Q100K	probably benign	Het
Stab1	T	C	14: 30,884,896 (GRCm39)	D153G	possibly damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Top2a	T	C	11: 98,894,434 (GRCm39)	K966E	possibly damaging	Het
Vars2	T	C	17: 35,973,027 (GRCm39)	T421A	probably damaging	Het
Vmn1r1	A	T	1: 181,984,770 (GRCm39)	C298*	probably null	Het
Vps35l	T	C	7: 118,352,118 (GRCm39)		probably null	Het
Vwa3a	T	C	7: 120,403,253 (GRCm39)		probably null	Het
Vwa5b1	G	T	4: 138,315,940 (GRCm39)	Q601K	possibly damaging	Het
Zbtb46	T	C	2: 181,037,281 (GRCm39)	K454E	probably damaging	Het
Zfp426	T	C	9: 20,381,577 (GRCm39)	H470R	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
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
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'- CGGACTGATTTGGACCCTAG -3'
(R):5'- GAAGTCCATCCTTGGTTGGG -3'

Sequencing Primer
(F):5'- TAGGGTGCTCTCAAACACTG -3'
(R):5'- CCATCCTTGGTTGGGTTGGC -3'

Posted On

2022-06-15