Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01871:Tent5b'

178709

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tent5b

Ensembl Gene

ENSMUSG00000046694

Gene Name

terminal nucleotidyltransferase 5B

Synonyms

4732473B16Rik, Fam46b

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

IGL01871

Quality Score

Status

Chromosome

Chromosomal Location

133207443-133215249 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133213620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 164 (I164V)

Ref Sequence

ENSEMBL: ENSMUSP00000056015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051676] [ENSMUST00000125541]

AlphaFold

Q8C152

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051676
AA Change: I164V

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000056015
Gene: ENSMUSG00000046694
AA Change: I164V

Domain	Start	End	E-Value	Type
low complexity region	15	44	N/A	INTRINSIC
DUF1693	52	372	2.52e-218	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123169

Predicted Effect

probably benign
Transcript: ENSMUST00000125541

SMART Domains

Protein: ENSMUSP00000129613
Gene: ENSMUSG00000056596

Domain	Start	End	E-Value	Type
low complexity region	20	54	N/A	INTRINSIC
low complexity region	72	124	N/A	INTRINSIC
low complexity region	131	144	N/A	INTRINSIC
low complexity region	164	189	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132840

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,620,513 (GRCm39)		probably null	Het
Aqp7	G	A	4: 41,045,321 (GRCm39)	R20*	probably null	Het
Asxl2	G	T	12: 3,552,112 (GRCm39)	V1285L	probably benign	Het
Bdp1	A	T	13: 100,202,561 (GRCm39)	S688T	probably benign	Het
Cc2d2a	A	T	5: 43,846,311 (GRCm39)	I357F	probably damaging	Het
Clasp1	A	T	1: 118,498,619 (GRCm39)	I884F	probably damaging	Het
Cpne4	T	G	9: 104,802,956 (GRCm39)	M200R	possibly damaging	Het
Cyp2d10	T	A	15: 82,288,086 (GRCm39)	D180V	probably damaging	Het
Dicer1	A	T	12: 104,670,439 (GRCm39)	V1042D	probably damaging	Het
Dlc1	G	A	8: 37,317,334 (GRCm39)	T447I	probably damaging	Het
Efl1	T	C	7: 82,412,527 (GRCm39)	M972T	possibly damaging	Het
Erbin	A	G	13: 103,971,274 (GRCm39)	S781P	probably damaging	Het
Galnt4	G	A	10: 98,945,103 (GRCm39)	G276D	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gmppa	A	G	1: 75,413,661 (GRCm39)	I41V	probably damaging	Het
Golga1	C	T	2: 38,940,210 (GRCm39)		probably benign	Het
H2-Ob	G	T	17: 34,461,519 (GRCm39)	W86L	probably damaging	Het
Hnrnpr	G	A	4: 136,066,885 (GRCm39)	R482H	unknown	Het
L2hgdh	T	C	12: 69,768,869 (GRCm39)	E81G	probably damaging	Het
Mre11a	T	C	9: 14,723,193 (GRCm39)	V389A	possibly damaging	Het
Mxra8	A	G	4: 155,927,258 (GRCm39)	T372A	probably benign	Het
Ncapg	T	A	5: 45,845,923 (GRCm39)	S593R	probably benign	Het
Ndufaf1	C	T	2: 119,488,768 (GRCm39)	W250*	probably null	Het
Neb	T	C	2: 52,043,081 (GRCm39)	E6783G	probably damaging	Het
Nmt2	T	C	2: 3,313,711 (GRCm39)	Y175H	probably damaging	Het
Olfml2b	T	C	1: 170,489,924 (GRCm39)		probably benign	Het
Pitpnm3	T	A	11: 71,946,964 (GRCm39)	M812L	probably damaging	Het
Pou2f3	A	G	9: 43,045,768 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,600,951 (GRCm39)	T2871A	probably benign	Het
Rapgef4	A	G	2: 72,028,704 (GRCm39)	T392A	possibly damaging	Het
Rhov	G	T	2: 119,101,219 (GRCm39)	Q71K	probably benign	Het
Slc22a15	T	C	3: 101,768,110 (GRCm39)		probably benign	Het
Spaca1	T	A	4: 34,040,894 (GRCm39)	N22Y	probably damaging	Het
Stmnd1	A	G	13: 46,443,189 (GRCm39)	E107G	probably damaging	Het
Timm22	T	C	11: 76,298,263 (GRCm39)	V78A	probably damaging	Het
Usp47	T	C	7: 111,676,993 (GRCm39)		probably benign	Het
Utp4	A	C	8: 107,638,949 (GRCm39)	K419T	probably benign	Het
Zfp410	T	C	12: 84,372,565 (GRCm39)		probably null	Het

Other mutations in Tent5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01730:Tent5b	APN	4	133,213,833 (GRCm39)	splice site	probably null
IGL02218:Tent5b	APN	4	133,213,462 (GRCm39)	missense	probably damaging	1.00
IGL02222:Tent5b	APN	4	133,213,864 (GRCm39)	missense	probably damaging	0.99
R0345:Tent5b	UTSW	4	133,213,522 (GRCm39)	missense	probably benign	0.01
R0515:Tent5b	UTSW	4	133,213,450 (GRCm39)	missense	possibly damaging	0.92
R0843:Tent5b	UTSW	4	133,213,842 (GRCm39)	missense	probably damaging	1.00
R1240:Tent5b	UTSW	4	133,213,815 (GRCm39)	missense	probably benign	0.01
R2042:Tent5b	UTSW	4	133,213,924 (GRCm39)	missense	possibly damaging	0.82
R4328:Tent5b	UTSW	4	133,213,914 (GRCm39)	nonsense	probably null
R4811:Tent5b	UTSW	4	133,213,681 (GRCm39)	missense	probably benign	0.01
R4868:Tent5b	UTSW	4	133,213,393 (GRCm39)	critical splice acceptor site	probably null
R5056:Tent5b	UTSW	4	133,207,749 (GRCm39)	missense	possibly damaging	0.91
R6360:Tent5b	UTSW	4	133,214,067 (GRCm39)	missense	probably damaging	0.99
R6454:Tent5b	UTSW	4	133,207,720 (GRCm39)	missense	probably damaging	1.00
R7017:Tent5b	UTSW	4	133,213,545 (GRCm39)	missense	possibly damaging	0.95
R7186:Tent5b	UTSW	4	133,213,518 (GRCm39)	missense	probably damaging	1.00
R7315:Tent5b	UTSW	4	133,214,395 (GRCm39)	missense	probably damaging	1.00
R8410:Tent5b	UTSW	4	133,214,362 (GRCm39)	missense	possibly damaging	0.95
R9093:Tent5b	UTSW	4	133,214,352 (GRCm39)	missense	probably damaging	0.99
R9361:Tent5b	UTSW	4	133,213,461 (GRCm39)	missense	probably damaging	1.00
Z1176:Tent5b	UTSW	4	133,213,993 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07