Mutagenetix > Incidental Mutation

Incidental Mutation 'R7059:Mtpap'

548153

Institutional Source

Beutler Lab

Gene Symbol

Mtpap

Ensembl Gene

ENSMUSG00000024234

Gene Name

mitochondrial poly(A) polymerase

Synonyms

0610027A18Rik, Tent6, Papd1

MMRRC Submission

045156-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7059 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4375592-4397330 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4396202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 498 (L498P)

Ref Sequence

ENSEMBL: ENSMUSP00000025077 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025077]

AlphaFold

Q9D0D3

Predicted Effect

probably damaging
Transcript: ENSMUST00000025077
AA Change: L498P

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

SMART Domains

Protein: ENSMUSP00000025077
Gene: ENSMUSG00000024234
AA Change: L498P

Domain	Start	End	E-Value	Type
PDB:3PQ1\|B	44	528	N/A	PDB
SCOP:d1f5aa2	187	523	1e-35	SMART
low complexity region	529	538	N/A	INTRINSIC
low complexity region	547	558	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the DNA polymerase type-B-like family. This enzyme synthesizes the 3' poly(A) tail of mitochondrial transcripts and plays a role in replication-dependent histone mRNA degradation.[provided by RefSeq, Jan 2011]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	T	C	2: 32,464,509 (GRCm39)		probably benign	Het
Abca16	A	G	7: 120,020,971 (GRCm39)	T5A	probably benign	Het
Abraxas1	T	C	5: 100,954,103 (GRCm39)	D349G	probably benign	Het
Adcyap1r1	T	A	6: 55,468,295 (GRCm39)	L405Q	probably damaging	Het
Aqp5	A	T	15: 99,492,127 (GRCm39)	T125S	probably benign	Het
Asah1	A	T	8: 41,800,106 (GRCm39)	N169K	probably damaging	Het
Atl3	A	G	19: 7,511,333 (GRCm39)	N515D	probably benign	Het
Atl3	A	C	19: 7,511,334 (GRCm39)	N520T	probably benign	Het
Atp6v1c2	C	A	12: 17,339,005 (GRCm39)	E249*	probably null	Het
Bcl2a1b	T	A	9: 89,081,813 (GRCm39)	I134K	probably damaging	Het
Brd10	T	A	19: 29,696,945 (GRCm39)	E849D	probably benign	Het
Btbd10	C	T	7: 112,929,129 (GRCm39)	R159H	probably damaging	Het
Chmp6	T	C	11: 119,806,866 (GRCm39)	F7L	probably damaging	Het
Colq	C	A	14: 31,247,991 (GRCm39)	C409F	probably damaging	Het
Cpox	T	A	16: 58,491,290 (GRCm39)	V167E	probably damaging	Het
Cul3	T	C	1: 80,254,141 (GRCm39)	Y545C	probably benign	Het
Dqx1	C	T	6: 83,041,790 (GRCm39)	A544V	probably benign	Het
Dzip3	A	G	16: 48,801,305 (GRCm39)	I73T	probably benign	Het
Epha3	T	A	16: 63,388,818 (GRCm39)	Y810F	probably damaging	Het
Esp36	A	T	17: 38,727,942 (GRCm39)	I113N	unknown	Het
Fbxw17	T	A	13: 50,586,584 (GRCm39)	W429R	probably damaging	Het
Fcrl2	A	T	3: 87,164,647 (GRCm39)	I293N	possibly damaging	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Gm8126	T	A	14: 43,118,975 (GRCm39)	L148H	probably benign	Het
Gpr39	C	A	1: 125,605,696 (GRCm39)	S208Y	probably damaging	Het
Heatr5a	T	C	12: 51,935,017 (GRCm39)	E1662G	probably damaging	Het
Hgfac	T	A	5: 35,201,773 (GRCm39)	L302Q	possibly damaging	Het
Itih1	G	A	14: 30,653,266 (GRCm39)	H721Y	possibly damaging	Het
Kat8	A	G	7: 127,524,075 (GRCm39)	I372V	probably benign	Het
Kcnk1	T	A	8: 126,756,466 (GRCm39)	Y329*	probably null	Het
Kcns2	A	T	15: 34,838,981 (GRCm39)	I115F	probably damaging	Het
Kif1a	C	T	1: 92,974,551 (GRCm39)		probably benign	Het
Lcn2	T	A	2: 32,277,608 (GRCm39)	D127V	possibly damaging	Het
Lrfn1	T	C	7: 28,166,355 (GRCm39)	V583A	possibly damaging	Het
Map3k1	T	C	13: 111,909,312 (GRCm39)	I55V	probably benign	Het
Mapk9	T	C	11: 49,757,874 (GRCm39)		probably null	Het
Mrpl18	A	G	17: 13,132,668 (GRCm39)	S154P	possibly damaging	Het
Mst1	C	A	9: 107,961,263 (GRCm39)	H524Q	probably benign	Het
Myl3	C	T	9: 110,571,105 (GRCm39)		probably benign	Het
Myrfl	T	C	10: 116,685,111 (GRCm39)	T90A	probably benign	Het
Mzf1	G	T	7: 12,786,985 (GRCm39)	S28R	probably damaging	Het
Olfm1	T	C	2: 28,112,628 (GRCm39)	S205P	probably damaging	Het
Or52e8	A	T	7: 104,625,224 (GRCm39)		probably null	Het
Prrc2a	G	A	17: 35,376,364 (GRCm39)	P809S	probably damaging	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Rbm48	A	T	5: 3,640,625 (GRCm39)	C251*	probably null	Het
Rxfp1	A	T	3: 79,559,576 (GRCm39)	V415E	probably damaging	Het
Slc12a6	T	A	2: 112,183,257 (GRCm39)	L748Q	probably damaging	Het
Slc19a3	T	A	1: 83,000,090 (GRCm39)	Y309F	probably damaging	Het
Slc36a1	A	G	11: 55,114,498 (GRCm39)	D192G	probably damaging	Het
Slc38a4	G	T	15: 96,906,895 (GRCm39)	S281*	probably null	Het
Syne1	A	T	10: 5,296,859 (GRCm39)	S1201T	probably damaging	Het
Tex15	C	A	8: 34,064,758 (GRCm39)	T1396K	possibly damaging	Het
Zswim8	G	T	14: 20,764,641 (GRCm39)		probably null	Het

Other mutations in Mtpap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00705:Mtpap	APN	18	4,379,670 (GRCm39)	missense	probably damaging	0.99
IGL00848:Mtpap	APN	18	4,380,717 (GRCm39)	missense	probably benign	0.00
IGL02659:Mtpap	APN	18	4,380,703 (GRCm39)	nonsense	probably null
IGL02828:Mtpap	APN	18	4,386,207 (GRCm39)	missense	probably damaging	0.99
IGL03006:Mtpap	APN	18	4,375,721 (GRCm39)	missense	possibly damaging	0.49
R0031:Mtpap	UTSW	18	4,383,244 (GRCm39)	missense	probably damaging	0.96
R0350:Mtpap	UTSW	18	4,396,195 (GRCm39)	missense	possibly damaging	0.91
R3787:Mtpap	UTSW	18	4,380,670 (GRCm39)	missense	probably damaging	1.00
R4381:Mtpap	UTSW	18	4,383,223 (GRCm39)	missense	probably benign	0.04
R4698:Mtpap	UTSW	18	4,375,724 (GRCm39)	missense	possibly damaging	0.59
R4717:Mtpap	UTSW	18	4,396,394 (GRCm39)	missense	possibly damaging	0.82
R4850:Mtpap	UTSW	18	4,387,044 (GRCm39)	missense	probably damaging	1.00
R4963:Mtpap	UTSW	18	4,375,638 (GRCm39)	missense	probably benign	0.05
R4982:Mtpap	UTSW	18	4,396,332 (GRCm39)	missense	probably benign	0.01
R5059:Mtpap	UTSW	18	4,375,827 (GRCm39)	intron	probably benign
R5311:Mtpap	UTSW	18	4,386,328 (GRCm39)	missense	probably damaging	1.00
R5600:Mtpap	UTSW	18	4,379,674 (GRCm39)	missense	probably damaging	1.00
R5713:Mtpap	UTSW	18	4,396,280 (GRCm39)	missense	probably benign	0.00
R6312:Mtpap	UTSW	18	4,396,175 (GRCm39)	missense	possibly damaging	0.89
R7006:Mtpap	UTSW	18	4,380,873 (GRCm39)	missense	possibly damaging	0.63
R7117:Mtpap	UTSW	18	4,380,889 (GRCm39)	critical splice donor site	probably null
R7286:Mtpap	UTSW	18	4,387,068 (GRCm39)	missense	probably benign	0.20
R7452:Mtpap	UTSW	18	4,379,705 (GRCm39)	missense	possibly damaging	0.75
R7845:Mtpap	UTSW	18	4,387,134 (GRCm39)	missense	possibly damaging	0.56
R7868:Mtpap	UTSW	18	4,380,673 (GRCm39)	missense	probably damaging	1.00
R8390:Mtpap	UTSW	18	4,396,141 (GRCm39)	missense	probably damaging	0.99
R8774:Mtpap	UTSW	18	4,387,032 (GRCm39)	nonsense	probably null
R8774-TAIL:Mtpap	UTSW	18	4,387,032 (GRCm39)	nonsense	probably null
R9001:Mtpap	UTSW	18	4,380,831 (GRCm39)	missense	probably benign	0.00
R9194:Mtpap	UTSW	18	4,380,834 (GRCm39)	nonsense	probably null
R9194:Mtpap	UTSW	18	4,380,833 (GRCm39)	missense	probably benign	0.00
R9238:Mtpap	UTSW	18	4,396,439 (GRCm39)	missense	probably damaging	1.00
X0025:Mtpap	UTSW	18	4,375,710 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCTGTGACTTATGTTGGCC -3'
(R):5'- TGGAACTGTCAGGGCTGTTAC -3'

Sequencing Primer
(F):5'- CCTTGTGTGTTCCTGGCAGC -3'
(R):5'- GGATGCTAACAAGCCTTTGAC -3'

Posted On

2019-05-13