Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00823:Tent2'

12904

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: 0.341) question?

Stock #

IGL00823

Quality Score

Status

Chromosome

Chromosomal Location

93282790-93328893 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93322905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 15 (T15A)

Ref Sequence

ENSEMBL: ENSMUSP00000153339 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048702] [ENSMUST00000224464] [ENSMUST00000224545] [ENSMUST00000225868]

AlphaFold

Q91YI6

Predicted Effect

probably benign
Transcript: ENSMUST00000048702
AA Change: T15A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000048124
Gene: ENSMUSG00000042167
AA Change: T15A

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: ENSMUST00000224464
AA Change: T15A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000224545
AA Change: T15A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000225868
AA Change: T15A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	C	5: 77,026,381 (GRCm39)		probably benign	Het
Adam5	T	C	8: 25,308,758 (GRCm39)	E39G	probably benign	Het
Anapc7	G	A	5: 122,571,540 (GRCm39)	W205*	probably null	Het
Arhgap5	C	T	12: 52,565,525 (GRCm39)	T832I	possibly damaging	Het
Arhgef10	T	A	8: 14,990,378 (GRCm39)		probably benign	Het
Atg5	A	G	10: 44,239,040 (GRCm39)	T274A	probably benign	Het
Baiap2l2	G	T	15: 79,168,765 (GRCm39)		probably benign	Het
Brap	T	A	5: 121,803,290 (GRCm39)	M146K	probably damaging	Het
Brpf1	T	C	6: 113,298,847 (GRCm39)	S1074P	probably benign	Het
Camta1	A	C	4: 151,169,058 (GRCm39)	I231R	probably benign	Het
Ccdc15	C	T	9: 37,231,709 (GRCm39)	G205D	probably benign	Het
Cd6	G	T	19: 10,773,758 (GRCm39)		probably benign	Het
Cdh17	T	G	4: 11,783,412 (GRCm39)	S219R	possibly damaging	Het
Cgn	G	A	3: 94,674,519 (GRCm39)	R873W	probably damaging	Het
Ctnna3	C	T	10: 63,373,322 (GRCm39)	P41L	possibly damaging	Het
Dmbt1	T	C	7: 130,659,888 (GRCm39)	W484R	probably benign	Het
Dmd	A	G	X: 83,469,419 (GRCm39)		probably null	Het
Dnah17	C	T	11: 117,937,987 (GRCm39)	V3347I	probably benign	Het
Fgd5	T	A	6: 91,965,440 (GRCm39)	S400T	possibly damaging	Het
Kitl	C	A	10: 99,923,206 (GRCm39)		probably benign	Het
Lamc3	A	T	2: 31,808,533 (GRCm39)	D763V	probably damaging	Het
Lgmn	T	C	12: 102,364,435 (GRCm39)		probably benign	Het
Lpcat2	T	G	8: 93,591,598 (GRCm39)	W81G	possibly damaging	Het
Myh13	A	G	11: 67,246,773 (GRCm39)	I1165V	probably benign	Het
Nf1	A	G	11: 79,456,343 (GRCm39)	D599G	probably damaging	Het
Nin	T	C	12: 70,061,567 (GRCm39)	N2099S	probably benign	Het
Nlrc4	T	C	17: 74,754,985 (GRCm39)	D77G	probably benign	Het
Otub1	A	G	19: 7,181,416 (GRCm39)		probably benign	Het
Pabir2	A	T	X: 52,334,208 (GRCm39)	C222S	probably damaging	Het
Pah	A	G	10: 87,406,193 (GRCm39)	Y174C	probably null	Het
Rbbp5	G	A	1: 132,417,444 (GRCm39)	V88I	probably damaging	Het
Scn1a	C	T	2: 66,155,279 (GRCm39)	R560H	probably benign	Het
Snx5	T	C	2: 144,097,485 (GRCm39)	I217V	probably benign	Het
Syne2	T	C	12: 76,036,016 (GRCm39)	S3769P	probably damaging	Het
Tmem255b	T	C	8: 13,507,054 (GRCm39)	M261T	probably benign	Het
Top3b	T	C	16: 16,705,486 (GRCm39)	I417T	probably damaging	Het
Tspan2	T	C	3: 102,665,549 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,540,057 (GRCm39)	T34310A	possibly damaging	Het
Ush2a	G	A	1: 188,643,640 (GRCm39)	C4334Y	possibly damaging	Het
Wdpcp	A	G	11: 21,609,995 (GRCm39)	D21G	probably damaging	Het
Yy2	A	C	X: 156,351,207 (GRCm39)	D186E	probably benign	Het

Other mutations in Tent2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02312:Tent2	APN	13	93,312,041 (GRCm39)	missense	probably benign
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

2012-12-06