Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01992:Tent5c'

183577

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tent5c

Ensembl Gene

ENSMUSG00000044468

Gene Name

terminal nucleotidyltransferase 5C

Synonyms

4930431B09Rik, Fam46c

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01992

Quality Score

Status

Chromosome

Chromosomal Location

100375373-100396508 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100379946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 270 (M270K)

Ref Sequence

ENSEMBL: ENSMUSP00000056872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061455]

AlphaFold

Q5SSF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000061455
AA Change: M270K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056872
Gene: ENSMUSG00000044468
AA Change: M270K

Domain	Start	End	E-Value	Type
DUF1693	17	336	3.33e-241	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128107

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139833

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypochromic microcytic anemia and decreased B cell proliferation. [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
Ano3	A	G	2: 110,488,564 (GRCm39)	M956T	probably damaging	Het
Ap2b1	T	G	11: 83,226,356 (GRCm39)	V289G	probably damaging	Het
Cacnb4	G	T	2: 52,355,682 (GRCm39)	H208Q	probably damaging	Het
Calhm6	A	T	10: 34,003,533 (GRCm39)	C125S	probably damaging	Het
Cd5l	G	A	3: 87,275,118 (GRCm39)	R219Q	probably benign	Het
Dzip1l	G	T	9: 99,545,739 (GRCm39)	G663W	probably damaging	Het
Ecel1	G	A	1: 87,077,577 (GRCm39)		probably benign	Het
Eno1	A	G	4: 150,323,993 (GRCm39)	T19A	probably damaging	Het
Fndc3a	G	A	14: 72,811,996 (GRCm39)	T315I	probably benign	Het
Galr1	T	C	18: 82,411,942 (GRCm39)	N308S	probably damaging	Het
Get3	G	A	8: 85,745,185 (GRCm39)	A294V	possibly damaging	Het
Maf	A	T	8: 116,432,702 (GRCm39)	S301T	probably damaging	Het
Map3k5	C	T	10: 19,904,879 (GRCm39)	R394*	probably null	Het
Mroh8	C	T	2: 157,055,616 (GRCm39)	G994D	probably damaging	Het
Myo10	T	C	15: 25,799,634 (GRCm39)	V653A	possibly damaging	Het
Nucks1	A	G	1: 131,858,828 (GRCm39)	K196E	unknown	Het
Nup42	T	C	5: 24,386,101 (GRCm39)	V211A	probably benign	Het
Or4n4	C	A	14: 50,518,798 (GRCm39)	R304L	probably benign	Het
Or7e178	A	T	9: 20,226,015 (GRCm39)	I59N	probably damaging	Het
Or7g32	A	T	9: 19,408,070 (GRCm39)	I9F	probably benign	Het
Piwil1	C	T	5: 128,824,396 (GRCm39)	T493I	probably null	Het
Plcd1	T	C	9: 118,905,053 (GRCm39)	H216R	probably benign	Het
Pmp2	A	T	3: 10,247,541 (GRCm39)	Y49*	probably null	Het
Rnf38	A	G	4: 44,138,806 (GRCm39)	V229A	probably damaging	Het
Saxo2	T	C	7: 82,284,108 (GRCm39)	D250G	probably damaging	Het
Scn8a	T	G	15: 100,866,938 (GRCm39)	V98G	probably damaging	Het
Scnn1a	T	A	6: 125,315,900 (GRCm39)		probably null	Het
Sepsecs	C	T	5: 52,801,402 (GRCm39)	R420Q	probably benign	Het
Slit2	T	C	5: 48,395,759 (GRCm39)	S725P	probably benign	Het
Stk16	A	G	1: 75,189,835 (GRCm39)	Q207R	probably benign	Het
Tapt1	C	T	5: 44,336,332 (GRCm39)	V446M	probably damaging	Het
Tex56	C	T	13: 35,108,516 (GRCm39)		probably null	Het
Tnni3k	A	C	3: 154,667,663 (GRCm39)	V250G	probably damaging	Het
Ttll8	C	T	15: 88,799,848 (GRCm39)	G531E	possibly damaging	Het
U2surp	T	A	9: 95,346,472 (GRCm39)	E862D	possibly damaging	Het
U2surp	A	G	9: 95,364,234 (GRCm39)	F561L	probably damaging	Het
Unc5d	A	G	8: 29,142,819 (GRCm39)	Y878H	probably damaging	Het
Ust	A	G	10: 8,173,842 (GRCm39)	M221T	probably benign	Het
Wasf3	T	C	5: 146,392,401 (GRCm39)	F157S	probably damaging	Het
Wdr64	G	A	1: 175,533,637 (GRCm39)	C91Y	probably damaging	Het
Zan	T	C	5: 137,422,368 (GRCm39)	Y2750C	unknown	Het

Other mutations in Tent5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Tent5c	APN	3	100,380,672 (GRCm39)	missense	probably damaging	0.96
IGL01314:Tent5c	APN	3	100,380,490 (GRCm39)	missense	probably benign	0.18
IGL01409:Tent5c	APN	3	100,380,485 (GRCm39)	missense	probably damaging	1.00
IGL01817:Tent5c	APN	3	100,380,171 (GRCm39)	missense	probably damaging	1.00
IGL01863:Tent5c	APN	3	100,379,980 (GRCm39)	missense	probably benign	0.05
IGL02436:Tent5c	APN	3	100,379,823 (GRCm39)	missense	probably benign	0.43
R0111:Tent5c	UTSW	3	100,380,102 (GRCm39)	missense	probably damaging	1.00
R0529:Tent5c	UTSW	3	100,379,686 (GRCm39)	missense	probably benign	0.36
R1196:Tent5c	UTSW	3	100,380,316 (GRCm39)	missense	possibly damaging	0.73
R1242:Tent5c	UTSW	3	100,380,192 (GRCm39)	missense	probably damaging	1.00
R4671:Tent5c	UTSW	3	100,380,515 (GRCm39)	missense	probably benign	0.44
R5252:Tent5c	UTSW	3	100,380,024 (GRCm39)	missense	probably damaging	1.00
R6730:Tent5c	UTSW	3	100,380,273 (GRCm39)	missense	probably benign	0.07
R8205:Tent5c	UTSW	3	100,380,138 (GRCm39)	missense	probably benign	0.04
R8282:Tent5c	UTSW	3	100,380,327 (GRCm39)	missense	probably damaging	1.00
R8483:Tent5c	UTSW	3	100,379,784 (GRCm39)	missense	probably damaging	1.00
R8883:Tent5c	UTSW	3	100,379,707 (GRCm39)	missense	probably benign	0.01
R9052:Tent5c	UTSW	3	100,380,618 (GRCm39)	missense	probably benign	0.12
R9259:Tent5c	UTSW	3	100,379,640 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07