Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01409:Tent5c'

79900

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 #

IGL01409

Quality Score

Status

Chromosome

Chromosomal Location

100375373-100396508 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100380485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 90 (D90E)

Ref Sequence

ENSEMBL: ENSMUSP00000056872 (fasta)

Gene Model

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

AlphaFold

Q5SSF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000061455
AA Change: D90E

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

SMART Domains

Protein: ENSMUSP00000056872
Gene: ENSMUSG00000044468
AA Change: D90E

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	C	T	10: 85,494,029 (GRCm39)	A1049V	possibly damaging	Het
Arhgap26	C	T	18: 39,243,504 (GRCm39)		probably benign	Het
Asxl1	T	C	2: 153,234,860 (GRCm39)		probably benign	Het
Atm	A	T	9: 53,410,471 (GRCm39)	V1037E	probably benign	Het
Bmp6	A	G	13: 38,669,865 (GRCm39)	N383S	probably damaging	Het
Btf3l4	A	C	4: 108,676,394 (GRCm39)	S103R	probably damaging	Het
Cadps2	T	C	6: 23,587,440 (GRCm39)	D321G	probably damaging	Het
Col24a1	G	A	3: 145,244,319 (GRCm39)	S1531N	probably benign	Het
Cpb1	T	A	3: 20,303,969 (GRCm39)	Y365F	possibly damaging	Het
Dpp6	T	C	5: 27,762,599 (GRCm39)	Y238H	probably damaging	Het
Epha6	G	A	16: 59,476,100 (GRCm39)	R1089*	probably null	Het
Fga	T	C	3: 82,940,059 (GRCm39)	F571S	probably damaging	Het
Focad	A	G	4: 88,260,542 (GRCm39)	T933A	unknown	Het
Gm57858	T	A	3: 36,080,077 (GRCm39)	M227L	possibly damaging	Het
Gria2	A	G	3: 80,615,004 (GRCm39)		probably null	Het
Hnrnpul1	T	C	7: 25,424,077 (GRCm39)	N725S	unknown	Het
Ik	A	T	18: 36,889,974 (GRCm39)	K534N	probably damaging	Het
Itga8	T	C	2: 12,196,525 (GRCm39)	T631A	probably benign	Het
Kcnip1	G	T	11: 33,580,593 (GRCm39)	D214E	probably benign	Het
Kcnk10	A	T	12: 98,456,322 (GRCm39)	Y170N	probably damaging	Het
Lalba	A	G	15: 98,379,948 (GRCm39)		probably null	Het
Ly75	A	T	2: 60,152,036 (GRCm39)		probably null	Het
Myh10	T	C	11: 68,698,045 (GRCm39)	L1629P	probably damaging	Het
Myo15b	C	A	11: 115,760,330 (GRCm39)	C1127*	probably null	Het
Neurl4	T	G	11: 69,797,925 (GRCm39)	N728K	probably damaging	Het
Nrxn3	T	A	12: 89,477,128 (GRCm39)	F801Y	probably damaging	Het
Nup214	G	T	2: 31,916,943 (GRCm39)		probably null	Het
Obscn	G	A	11: 58,921,884 (GRCm39)	R6624C	probably damaging	Het
Or2g1	T	C	17: 38,106,413 (GRCm39)	F26S	probably damaging	Het
Pdk1	A	G	2: 71,726,123 (GRCm39)	T344A	probably benign	Het
Pitx2	C	A	3: 129,008,413 (GRCm39)	S63Y	probably damaging	Het
Ppara	A	C	15: 85,661,844 (GRCm39)	L28F	probably damaging	Het
Rad54l	G	A	4: 115,963,074 (GRCm39)	T308I	probably damaging	Het
Sbds	T	C	5: 130,282,907 (GRCm39)	E7G	probably damaging	Het
Slc22a19	T	C	19: 7,688,495 (GRCm39)	I22V	probably benign	Het
Slfn10-ps	T	C	11: 82,926,322 (GRCm39)		noncoding transcript	Het
Spag4	T	C	2: 155,911,252 (GRCm39)	S396P	possibly damaging	Het
Spef2	C	A	15: 9,716,499 (GRCm39)	L362F	probably damaging	Het
Srebf2	A	G	15: 82,055,419 (GRCm39)	T208A	probably damaging	Het
Ssc5d	A	G	7: 4,945,808 (GRCm39)	T947A	probably benign	Het
Tdp1	T	C	12: 99,875,940 (GRCm39)	I297T	possibly damaging	Het
Tsen2	T	C	6: 115,536,555 (GRCm39)	Y104H	possibly damaging	Het
Was	G	A	X: 7,954,055 (GRCm39)	R229C	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
IGL01314:Tent5c	APN	3	100,380,490 (GRCm39)	missense	probably benign	0.18
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

2013-11-05