Mutagenetix > Incidental Mutation

Incidental Mutation 'R5252:Tent5c'

399091

Institutional Source

Beutler Lab

Gene Symbol

Tent5c

Ensembl Gene

ENSMUSG00000044468

Gene Name

terminal nucleotidyltransferase 5C

Synonyms

4930431B09Rik, Fam46c

MMRRC Submission

042823-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5252 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100375373-100396508 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100380024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 244 (L244P)

Ref Sequence

ENSEMBL: ENSMUSP00000056872 (fasta)

Gene Model

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

AlphaFold

Q5SSF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000061455
AA Change: L244P

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

SMART Domains

Protein: ENSMUSP00000056872
Gene: ENSMUSG00000044468
AA Change: L244P

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

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12b	G	T	11: 69,056,762 (GRCm39)	R386L	probably damaging	Het
Ano8	A	T	8: 71,935,261 (GRCm39)	Y346N	probably damaging	Het
Cabp4	T	C	19: 4,186,067 (GRCm39)		probably benign	Het
Canx	A	T	11: 50,199,621 (GRCm39)	I148N	probably damaging	Het
Ccdc141	A	G	2: 76,962,593 (GRCm39)	V117A	probably benign	Het
Cdk12	A	T	11: 98,134,335 (GRCm39)	N1078Y	unknown	Het
Cdk7	T	A	13: 100,866,968 (GRCm39)	K42*	probably null	Het
Col6a5	T	C	9: 105,817,489 (GRCm39)	D274G	unknown	Het
Cux1	T	C	5: 136,337,151 (GRCm39)	E696G	probably damaging	Het
Cxxc1	C	T	18: 74,353,022 (GRCm39)	A444V	probably benign	Het
Dll1	T	C	17: 15,588,951 (GRCm39)	K575E	probably damaging	Het
Dnah11	A	G	12: 118,089,676 (GRCm39)	F1130S	probably damaging	Het
Dnah2	A	G	11: 69,420,295 (GRCm39)	F140L	probably damaging	Het
Dysf	T	C	6: 84,163,450 (GRCm39)	V1625A	probably damaging	Het
Evi5	T	C	5: 107,943,618 (GRCm39)	T592A	probably benign	Het
Fas	T	C	19: 34,294,043 (GRCm39)	S133P	probably damaging	Het
Gpr139	A	G	7: 118,744,427 (GRCm39)	S53P	probably benign	Het
H2-Q4	T	C	17: 35,599,411 (GRCm39)	F165L	probably benign	Het
Ighv9-2	A	G	12: 114,072,838 (GRCm39)	V45A	probably benign	Het
Inpp1	T	G	1: 52,833,706 (GRCm39)	D130A	probably benign	Het
Lin54	C	T	5: 100,628,063 (GRCm39)	V47I	probably benign	Het
Nav3	TGAAGAAGAAGAAGA	TGAAGAAGAAGA	10: 109,550,152 (GRCm39)		probably benign	Het
Nexn	T	C	3: 151,943,590 (GRCm39)	T438A	probably benign	Het
Or4c112	A	T	2: 88,853,598 (GRCm39)	F250I	probably damaging	Het
Or8g4	T	G	9: 39,661,784 (GRCm39)	I34S	probably damaging	Het
Pilrb1	T	A	5: 137,853,315 (GRCm39)	M163L	probably benign	Het
Pkhd1	A	T	1: 20,420,635 (GRCm39)		probably null	Het
Ppard	G	A	17: 28,517,822 (GRCm39)	V297I	probably benign	Het
Rabgap1	T	C	2: 37,365,369 (GRCm39)	V214A	probably benign	Het
Serpinc1	T	C	1: 160,817,191 (GRCm39)	F95S	probably damaging	Het
Slc5a8	T	C	10: 88,742,209 (GRCm39)	Y302H	probably damaging	Het
Slco4a1	G	A	2: 180,106,252 (GRCm39)	A145T	possibly damaging	Het
Spata31g1	T	A	4: 42,971,706 (GRCm39)	F346L	probably benign	Het
Sptlc2	A	T	12: 87,382,829 (GRCm39)	M425K	possibly damaging	Het
Trp53bp1	A	G	2: 121,074,464 (GRCm39)	S429P	probably benign	Het
Unc13a	T	A	8: 72,105,208 (GRCm39)	T723S	probably damaging	Het
Ush2a	A	T	1: 188,553,914 (GRCm39)	I3468F	possibly damaging	Het
Utp20	A	T	10: 88,586,532 (GRCm39)	D2547E	probably benign	Het
Wnk4	A	G	11: 101,159,574 (GRCm39)	D593G	possibly damaging	Het
Zfyve26	A	G	12: 79,315,756 (GRCm39)	L1240P	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTGCGGAGAATCATGAGGTAGTC -3'
(R):5'- GTTCAGCGTGGACTCTTTCC -3'

Sequencing Primer
(F):5'- AGAATCATGAGGTAGTCGTACTTGC -3'
(R):5'- GGACTCTTTCCAGATCATCCTAG -3'

Posted On

2016-07-06