Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02437:Tnrc6b'

293340

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tnrc6b

Ensembl Gene

ENSMUSG00000047888

Gene Name

trinucleotide repeat containing 6b

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

IGL02437

Quality Score

Status

Chromosome

Chromosomal Location

80711313-80941085 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 80880457 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 720 (L720R)

Ref Sequence

ENSEMBL: ENSMUSP00000064336 (fasta)

Gene Model

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

AlphaFold

Q8BKI2

Predicted Effect

probably damaging
Transcript: ENSMUST00000067689
AA Change: L720R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000064336
Gene: ENSMUSG00000047888
AA Change: L720R

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,229,377	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,229,382	P402L	probably damaging	Het
Abca16	T	G	7: 120,533,729	C1294G	probably benign	Het
Abca7	T	A	10: 80,008,389	S1410T	probably damaging	Het
Abhd12	T	C	2: 150,834,369	D356G	probably benign	Het
BC004004	T	C	17: 29,298,697	L295P	probably damaging	Het
Bpifc	T	C	10: 85,988,731	S215G	probably damaging	Het
Bptf	C	T	11: 107,074,695	M1109I	probably benign	Het
Brat1	C	T	5: 140,712,808	A245V	possibly damaging	Het
Cask	G	A	X: 13,537,621	T16I	probably damaging	Het
Clic6	A	T	16: 92,530,929	I541F	probably damaging	Het
Clnk	C	T	5: 38,774,566		probably null	Het
Cntnap1	T	A	11: 101,186,851	I1113N	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cyp26a1	T	C	19: 37,698,495	S132P	probably benign	Het
Cyp4f13	G	T	17: 32,930,608	H85N	probably benign	Het
Dcaf15	C	T	8: 84,101,816	G215D	probably damaging	Het
Dip2a	T	C	10: 76,298,267	T500A	probably benign	Het
Fam92b	T	C	8: 120,174,786	E60G	probably damaging	Het
Gbe1	T	A	16: 70,434,658		probably benign	Het
Gli2	T	A	1: 118,836,003	I1473F	probably damaging	Het
Gm5129	A	T	5: 29,735,863		probably benign	Het
Hdgf	C	T	3: 87,914,485	R168C	probably damaging	Het
Heph	A	G	X: 96,473,027	T342A	probably benign	Het
Kdelr3	T	C	15: 79,525,787	Y158H	probably damaging	Het
Lamb3	C	T	1: 193,327,945	R289C	probably damaging	Het
Leng8	C	T	7: 4,142,093	A164V	probably damaging	Het
Ltn1	T	C	16: 87,398,001	T1337A	probably benign	Het
Mast3	C	A	8: 70,780,558	R316L	possibly damaging	Het
Nampt	A	G	12: 32,830,216	Y36C	probably damaging	Het
Ncapd3	T	A	9: 27,063,968		probably benign	Het
Nipbl	T	C	15: 8,359,074	D354G	probably damaging	Het
Nsd1	A	T	13: 55,313,441	R2494W	probably damaging	Het
Nt5c1a	A	G	4: 123,214,241	N239S	probably benign	Het
Ogfr	A	G	2: 180,589,536	E19G	possibly damaging	Het
Olfr48	A	G	2: 89,844,784	L63P	probably damaging	Het
Olfr747	A	T	14: 50,681,200	S145T	probably benign	Het
Pcna	A	T	2: 132,251,235		probably benign	Het
Pdia3	T	A	2: 121,433,648	V326E	probably damaging	Het
Phf8	T	A	X: 151,631,360	L1002Q	possibly damaging	Het
Rhobtb2	T	C	14: 69,795,916	E535G	probably damaging	Het
Rusc2	G	T	4: 43,415,545	D284Y	probably damaging	Het
Samd8	A	G	14: 21,775,423	Y212C	probably benign	Het
Sash3	C	A	X: 48,158,795	Q169K	probably benign	Het
Scyl1	C	T	19: 5,766,196	G324S	probably damaging	Het
Sec62	G	A	3: 30,818,847	G360R	unknown	Het
Sis	T	C	3: 72,919,614		probably null	Het
Slc6a1	T	A	6: 114,308,617	I338N	probably damaging	Het
Snrnp200	A	G	2: 127,216,110	D264G	probably damaging	Het
Tgm3	G	T	2: 130,030,041		probably null	Het
Tmem2	T	C	19: 21,811,978		probably null	Het
Tspyl4	A	T	10: 34,298,232	Q240L	probably damaging	Het
Tube1	G	A	10: 39,140,850	V80I	probably damaging	Het
Uap1l1	C	T	2: 25,363,933	V304M	probably damaging	Het
Wtap	T	C	17: 12,967,733	N309S	probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zfyve26	T	C	12: 79,268,847	D1285G	probably benign	Het
Zscan20	G	A	4: 128,588,417	T484I	probably damaging	Het

Other mutations in Tnrc6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01312:Tnrc6b	APN	15	80923578	missense	probably damaging	1.00
IGL01402:Tnrc6b	APN	15	80880544	missense	possibly damaging	0.71
IGL01505:Tnrc6b	APN	15	80879963	missense	probably benign	0.00
IGL01516:Tnrc6b	APN	15	80902622	missense	possibly damaging	0.93
IGL01584:Tnrc6b	APN	15	80879682	missense	probably benign	0.01
IGL01681:Tnrc6b	APN	15	80879311	splice site	probably null
IGL01909:Tnrc6b	APN	15	80901983	missense	possibly damaging	0.88
IGL01943:Tnrc6b	APN	15	80927695	nonsense	probably null
IGL02253:Tnrc6b	APN	15	80876541	missense	probably damaging	0.99
IGL02260:Tnrc6b	APN	15	80880171	missense	probably damaging	0.99
IGL02541:Tnrc6b	APN	15	80879831	missense	probably benign	0.00
IGL02542:Tnrc6b	APN	15	80902352	missense	possibly damaging	0.83
grosser	UTSW	15	80929285	missense	probably damaging	1.00
heiliger	UTSW	15	80927741	critical splice donor site	probably null
PIT1430001:Tnrc6b	UTSW	15	80929186	missense	probably damaging	0.99
R0092:Tnrc6b	UTSW	15	80918528	missense	probably damaging	1.00
R0165:Tnrc6b	UTSW	15	80858670	splice site	probably null
R0238:Tnrc6b	UTSW	15	80887864	missense	probably damaging	1.00
R0238:Tnrc6b	UTSW	15	80887864	missense	probably damaging	1.00
R0257:Tnrc6b	UTSW	15	80894355	missense	possibly damaging	0.80
R0418:Tnrc6b	UTSW	15	80913323	missense	probably benign	0.27
R0432:Tnrc6b	UTSW	15	80923446	splice site	probably benign
R0487:Tnrc6b	UTSW	15	80880675	missense	probably benign	0.01
R0498:Tnrc6b	UTSW	15	80858719	missense	probably damaging	0.98
R0528:Tnrc6b	UTSW	15	80879403	missense	probably benign	0.00
R0533:Tnrc6b	UTSW	15	80876653	missense	probably benign	0.00
R0571:Tnrc6b	UTSW	15	80913338	missense	probably damaging	1.00
R0650:Tnrc6b	UTSW	15	80784758	missense	probably benign	0.33
R0659:Tnrc6b	UTSW	15	80923446	splice site	probably benign
R0884:Tnrc6b	UTSW	15	80902555	small deletion	probably benign
R1131:Tnrc6b	UTSW	15	80894453	missense	possibly damaging	0.45
R1188:Tnrc6b	UTSW	15	80879229	missense	probably benign
R1479:Tnrc6b	UTSW	15	80887032	splice site	probably null
R1564:Tnrc6b	UTSW	15	80880168	missense	possibly damaging	0.95
R1645:Tnrc6b	UTSW	15	80882958	missense	probably damaging	0.99
R1924:Tnrc6b	UTSW	15	80884206	critical splice acceptor site	probably null
R1926:Tnrc6b	UTSW	15	80881162	missense	probably damaging	1.00
R1928:Tnrc6b	UTSW	15	80880723	missense	probably damaging	1.00
R1965:Tnrc6b	UTSW	15	80880439	missense	probably damaging	1.00
R1966:Tnrc6b	UTSW	15	80880439	missense	probably damaging	1.00
R2072:Tnrc6b	UTSW	15	80882965	missense	possibly damaging	0.89
R3084:Tnrc6b	UTSW	15	80880247	missense	probably damaging	1.00
R3552:Tnrc6b	UTSW	15	80880247	missense	probably damaging	1.00
R3736:Tnrc6b	UTSW	15	80889163	splice site	probably benign
R3791:Tnrc6b	UTSW	15	80923640	missense	probably damaging	1.00
R4170:Tnrc6b	UTSW	15	80916787	missense	probably benign	0.24
R4276:Tnrc6b	UTSW	15	80901971	missense	probably benign	0.42
R4519:Tnrc6b	UTSW	15	80880247	missense	probably damaging	1.00
R5380:Tnrc6b	UTSW	15	80879565	missense	possibly damaging	0.56
R5470:Tnrc6b	UTSW	15	80916711	missense	possibly damaging	0.89
R5590:Tnrc6b	UTSW	15	80876502	missense	probably damaging	0.98
R5982:Tnrc6b	UTSW	15	80880816	missense	probably benign
R6269:Tnrc6b	UTSW	15	80880743	missense	probably benign	0.42
R6331:Tnrc6b	UTSW	15	80879614	missense	probably benign	0.00
R6484:Tnrc6b	UTSW	15	80879324	missense	possibly damaging	0.92
R6622:Tnrc6b	UTSW	15	80879184	missense	probably damaging	0.99
R6695:Tnrc6b	UTSW	15	80879773	missense	probably damaging	1.00
R6728:Tnrc6b	UTSW	15	80918526	missense	probably damaging	1.00
R6776:Tnrc6b	UTSW	15	80924119	missense	possibly damaging	0.87
R7159:Tnrc6b	UTSW	15	80887022	missense	possibly damaging	0.92
R7210:Tnrc6b	UTSW	15	80929285	missense	probably damaging	1.00
R7287:Tnrc6b	UTSW	15	80879541	missense	possibly damaging	0.83
R7402:Tnrc6b	UTSW	15	80884300	missense	probably damaging	1.00
R7479:Tnrc6b	UTSW	15	80889126	missense	probably benign	0.13
R7533:Tnrc6b	UTSW	15	80927741	critical splice donor site	probably null
R7571:Tnrc6b	UTSW	15	80929393	missense	probably benign
R7594:Tnrc6b	UTSW	15	80880307	missense	possibly damaging	0.66
R7831:Tnrc6b	UTSW	15	80880379	missense	possibly damaging	0.49
R8208:Tnrc6b	UTSW	15	80858700	missense	possibly damaging	0.53
R8276:Tnrc6b	UTSW	15	80880717	missense	probably benign	0.00
R8295:Tnrc6b	UTSW	15	80913364	missense	probably damaging	1.00
R8351:Tnrc6b	UTSW	15	80923490	missense	probably damaging	0.99
R8423:Tnrc6b	UTSW	15	80929418	missense	unknown
R8451:Tnrc6b	UTSW	15	80923490	missense	probably damaging	0.99
R8725:Tnrc6b	UTSW	15	80876452	missense	probably damaging	1.00
R8872:Tnrc6b	UTSW	15	80918089	missense	probably benign	0.23
R9029:Tnrc6b	UTSW	15	80878978	missense	possibly damaging	0.83
R9057:Tnrc6b	UTSW	15	80879148	missense	probably benign
R9240:Tnrc6b	UTSW	15	80880061	missense	probably damaging	0.98
X0020:Tnrc6b	UTSW	15	80882997	missense	probably benign	0.16
X0025:Tnrc6b	UTSW	15	80881167	missense	probably benign	0.03
Z1088:Tnrc6b	UTSW	15	80927690	nonsense	probably null
Z1177:Tnrc6b	UTSW	15	80858699	missense	possibly damaging	0.68

Posted On

2015-04-16