Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01314:Tent5c'

73772

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 #

IGL01314

Quality Score

Status

Chromosome

Chromosomal Location

100375373-100396508 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100380490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 89 (K89E)

Ref Sequence

ENSEMBL: ENSMUSP00000056872 (fasta)

Gene Model

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

AlphaFold

Q5SSF7

Predicted Effect

probably benign
Transcript: ENSMUST00000061455
AA Change: K89E

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000056872
Gene: ENSMUSG00000044468
AA Change: K89E

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	C	T	15: 11,071,939 (GRCm39)	A161V	probably benign	Het
Bptf	A	T	11: 106,945,679 (GRCm39)	V2520E	probably damaging	Het
C87436	T	C	6: 86,434,837 (GRCm39)	F395S	probably damaging	Het
Capn1	T	C	19: 6,040,014 (GRCm39)		probably benign	Het
Ceacam5	T	A	7: 17,481,181 (GRCm39)	Y309*	probably null	Het
Clasp2	A	G	9: 113,735,195 (GRCm39)	D1011G	possibly damaging	Het
Csmd3	A	G	15: 47,713,151 (GRCm39)	Y1608H	probably damaging	Het
Dcaf1	T	C	9: 106,711,390 (GRCm39)	I77T	probably benign	Het
Dcdc2a	T	C	13: 25,286,587 (GRCm39)	L170P	probably damaging	Het
Ddx28	A	G	8: 106,737,212 (GRCm39)	F282S	probably damaging	Het
Egf	A	G	3: 129,479,909 (GRCm39)	I497T	probably benign	Het
Emsy	A	G	7: 98,242,662 (GRCm39)	V1159A	probably benign	Het
Hk3	C	A	13: 55,154,876 (GRCm39)		probably benign	Het
Htt	A	G	5: 35,036,200 (GRCm39)	D2049G	probably benign	Het
Inpp5d	C	A	1: 87,611,472 (GRCm39)	S45*	probably null	Het
Irf8	A	G	8: 121,480,119 (GRCm39)	Y119C	probably damaging	Het
Klk1b4	T	C	7: 43,860,600 (GRCm39)		probably null	Het
Macf1	A	G	4: 123,380,513 (GRCm39)	S1273P	probably damaging	Het
Man2c1	A	T	9: 57,049,103 (GRCm39)	H867L	probably benign	Het
Mgat4e	T	C	1: 134,469,187 (GRCm39)	T286A	probably damaging	Het
Mug2	T	C	6: 122,058,238 (GRCm39)	F1267L	possibly damaging	Het
Necab1	T	A	4: 15,005,079 (GRCm39)	E128D	probably damaging	Het
Or10ak9	G	A	4: 118,726,328 (GRCm39)	V117I	probably benign	Het
Pds5a	A	G	5: 65,772,637 (GRCm39)	V1322A	probably benign	Het
Poc1b	C	T	10: 98,965,503 (GRCm39)	T144I	probably damaging	Het
Prcc	T	A	3: 87,777,387 (GRCm39)	N196Y	probably damaging	Het
Psma5	G	A	3: 108,187,111 (GRCm39)	V237M	possibly damaging	Het
Rap1gds1	A	G	3: 138,756,322 (GRCm39)	L11P	probably damaging	Het
Rapgef3	A	G	15: 97,646,104 (GRCm39)	F132S	probably damaging	Het
Rgs13	T	G	1: 144,047,179 (GRCm39)	D14A	probably benign	Het
Rlig1	A	C	10: 100,409,473 (GRCm39)	D313E	probably damaging	Het
Stxbp4	A	G	11: 90,512,475 (GRCm39)		probably benign	Het
Tcerg1	C	A	18: 42,706,374 (GRCm39)	A1017D	probably damaging	Het
Tmem79	T	C	3: 88,239,883 (GRCm39)	I276V	possibly damaging	Het
Tmem94	C	A	11: 115,680,835 (GRCm39)	H113N	probably damaging	Het
Vil1	G	A	1: 74,467,397 (GRCm39)	D715N	probably damaging	Het
Vmn2r96	A	G	17: 18,803,226 (GRCm39)	T187A	probably benign	Het
Zfhx4	T	A	3: 5,478,154 (GRCm39)	S3590T	probably damaging	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
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
IGL01992:Tent5c	APN	3	100,379,946 (GRCm39)	missense	probably damaging	1.00
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

2013-10-07