Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02312:Tent2'

287835

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tent2

Ensembl Gene

ENSMUSG00000042167

Gene Name

terminal nucleotidyltransferase 2

Synonyms

8030446C20Rik, Papd4

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.383) question?

Stock #

IGL02312

Quality Score

Status

Chromosome

Chromosomal Location

93282790-93328893 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 93312041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 220 (V220I)

Ref Sequence

ENSEMBL: ENSMUSP00000153703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048702] [ENSMUST00000224545] [ENSMUST00000225868]

AlphaFold

Q91YI6

Predicted Effect

probably benign
Transcript: ENSMUST00000048702
AA Change: V220I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048124
Gene: ENSMUSG00000042167
AA Change: V220I

Domain	Start	End	E-Value	Type
low complexity region	134	147	N/A	INTRINSIC
Pfam:PAP_assoc	386	440	1.5e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224545

Predicted Effect

probably benign
Transcript: ENSMUST00000225868
AA Change: V220I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele reuslts in disruption in polyadenylation in oocytes and somatic cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 59,060,369 (GRCm39)	V454E	probably damaging	Het
Atp7b	G	T	8: 22,484,786 (GRCm39)	Q1424K	probably damaging	Het
Bicra	T	C	7: 15,727,066 (GRCm39)	D30G	possibly damaging	Het
Cdhr2	A	G	13: 54,865,701 (GRCm39)	D233G	probably null	Het
Clint1	C	T	11: 45,784,883 (GRCm39)	T294M	probably damaging	Het
Cntnap5c	C	T	17: 58,445,694 (GRCm39)	T578I	probably benign	Het
Col12a1	G	T	9: 79,588,797 (GRCm39)	T1106N	probably damaging	Het
Csta3	A	G	16: 36,030,847 (GRCm39)		probably benign	Het
Dnah10	A	G	5: 124,896,430 (GRCm39)	Y3598C	probably damaging	Het
Dnaja3	A	G	16: 4,512,300 (GRCm39)	T235A	probably benign	Het
Eif2s1	T	C	12: 78,926,790 (GRCm39)	I180T	probably damaging	Het
Ergic1	C	A	17: 26,848,601 (GRCm39)	P108Q	probably damaging	Het
Fat2	T	A	11: 55,161,085 (GRCm39)	D3215V	probably damaging	Het
Galnt17	A	T	5: 131,335,371 (GRCm39)	I23N	probably benign	Het
Gpr20	C	T	15: 73,568,275 (GRCm39)	R38Q	probably benign	Het
Grin2b	T	C	6: 135,716,088 (GRCm39)	D743G	probably damaging	Het
H2-T5	T	C	17: 36,476,299 (GRCm39)	I350V	probably benign	Het
Hmbs	A	G	9: 44,252,510 (GRCm39)		probably null	Het
Hunk	T	C	16: 90,272,829 (GRCm39)	Y302H	probably damaging	Het
Mybph	A	T	1: 134,125,188 (GRCm39)	I239F	probably damaging	Het
Ncoa3	G	A	2: 165,899,120 (GRCm39)	A821T	probably benign	Het
Nf1	A	G	11: 79,335,474 (GRCm39)	I979V	possibly damaging	Het
Or5w14	T	C	2: 87,541,353 (GRCm39)	E299G	probably benign	Het
Or7h8	A	T	9: 20,124,377 (GRCm39)	H244L	probably damaging	Het
Pdilt	G	A	7: 119,118,890 (GRCm39)	T53M	probably benign	Het
Pdlim1	T	C	19: 40,211,505 (GRCm39)	T263A	probably benign	Het
Pik3cg	A	T	12: 32,244,820 (GRCm39)	M878K	possibly damaging	Het
Plod1	T	C	4: 148,010,614 (GRCm39)	K279R	probably benign	Het
Plxna4	T	C	6: 32,142,052 (GRCm39)	T1602A	possibly damaging	Het
Rb1cc1	T	A	1: 6,335,847 (GRCm39)		probably null	Het
Rnls	G	A	19: 33,145,783 (GRCm39)	T112I	probably benign	Het
Ropn1	G	A	16: 34,497,647 (GRCm39)	V180I	probably benign	Het
Rptor	T	C	11: 119,737,741 (GRCm39)	Y605H	possibly damaging	Het
Sidt2	T	C	9: 45,858,299 (GRCm39)	Y80C	probably benign	Het
Slit1	A	T	19: 41,590,119 (GRCm39)	V1389E	possibly damaging	Het
Spz1	G	A	13: 92,712,393 (GRCm39)	P28S	probably benign	Het
Sult1c2	T	A	17: 54,269,458 (GRCm39)	M257L	probably benign	Het
Tm2d3	T	C	7: 65,348,917 (GRCm39)		probably null	Het
Uqcr10	T	C	11: 4,654,153 (GRCm39)		probably null	Het

Other mutations in Tent2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Tent2	APN	13	93,322,905 (GRCm39)	missense	probably benign	0.01
IGL02896:Tent2	APN	13	93,304,945 (GRCm39)	missense	probably damaging	1.00
IGL02802:Tent2	UTSW	13	93,285,449 (GRCm39)	missense	probably damaging	1.00
R0538:Tent2	UTSW	13	93,312,123 (GRCm39)	splice site	probably benign
R0568:Tent2	UTSW	13	93,291,500 (GRCm39)	missense	probably benign	0.20
R0733:Tent2	UTSW	13	93,291,547 (GRCm39)	missense	probably benign	0.05
R1136:Tent2	UTSW	13	93,312,205 (GRCm39)	critical splice donor site	probably null
R1537:Tent2	UTSW	13	93,312,076 (GRCm39)	missense	probably damaging	1.00
R1603:Tent2	UTSW	13	93,312,073 (GRCm39)	missense	probably benign
R2508:Tent2	UTSW	13	93,320,726 (GRCm39)	missense	probably damaging	1.00
R4920:Tent2	UTSW	13	93,322,833 (GRCm39)	nonsense	probably null
R5881:Tent2	UTSW	13	93,312,246 (GRCm39)	nonsense	probably null
R5916:Tent2	UTSW	13	93,312,055 (GRCm39)	missense	probably damaging	1.00
R6333:Tent2	UTSW	13	93,322,821 (GRCm39)	nonsense	probably null
R6783:Tent2	UTSW	13	93,291,527 (GRCm39)	missense	probably benign	0.00
R6783:Tent2	UTSW	13	93,291,526 (GRCm39)	missense	probably benign	0.00
R8162:Tent2	UTSW	13	93,304,432 (GRCm39)	critical splice donor site	probably null
R8262:Tent2	UTSW	13	93,310,997 (GRCm39)	intron	probably benign
R8264:Tent2	UTSW	13	93,312,077 (GRCm39)	missense	probably damaging	1.00
R9124:Tent2	UTSW	13	93,284,160 (GRCm39)	nonsense	probably null
R9518:Tent2	UTSW	13	93,320,612 (GRCm39)	missense	probably benign
R9599:Tent2	UTSW	13	93,322,821 (GRCm39)	missense	probably benign	0.09

Posted On

2015-04-16