Mutagenetix > Incidental Mutation

Incidental Mutation 'R6513:Mtap'

519992

Institutional Source

Beutler Lab

Gene Symbol

Mtap

Ensembl Gene

ENSMUSG00000062937

Gene Name

methylthioadenosine phosphorylase

Synonyms

1300019I21Rik

MMRRC Submission

044640-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6513 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89055607-89099327 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89066498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 36 (T36A)

Ref Sequence

ENSEMBL: ENSMUSP00000061092 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058030]

AlphaFold

Q9CQ65

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058030
AA Change: T36A

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000061092
Gene: ENSMUSG00000062937
AA Change: T36A

Domain	Start	End	E-Value	Type
Pfam:PNP_UDP_1	11	256	3.6e-50	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.4%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage of both adenine and methionine. The encoded enzyme is deficient in many cancers because this gene and the tumor suppressor p16 gene are co-deleted. Multiple alternatively spliced transcript variants have been described for this gene, but their full-length natures remain unknown. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele die by E8.5. Heterozygotes display no significant hearing loss up to 6 months of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	C	16: 90,852,654 (GRCm39)	S161G	probably benign	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
Ankrd11	A	G	8: 123,616,919 (GRCm39)	V2290A	probably benign	Het
Aox4	A	G	1: 58,252,212 (GRCm39)	N29S	probably benign	Het
Arhgap17	T	C	7: 122,891,379 (GRCm39)	R592G	possibly damaging	Het
Caap1	A	T	4: 94,389,640 (GRCm39)	D231E	possibly damaging	Het
Cabp1	T	A	5: 115,307,193 (GRCm39)	M165L	possibly damaging	Het
Calhm4	T	A	10: 33,917,630 (GRCm39)	R274*	probably null	Het
Cep72	A	T	13: 74,206,582 (GRCm39)	L73H	probably damaging	Het
Cfap74	A	G	4: 155,525,743 (GRCm39)	S731G	probably null	Het
Dsc2	T	C	18: 20,179,295 (GRCm39)	I258V	probably benign	Het
Dsg1c	T	G	18: 20,407,687 (GRCm39)	N344K	probably benign	Het
Enah	A	G	1: 181,841,920 (GRCm39)		probably benign	Het
Fbn1	T	A	2: 125,225,591 (GRCm39)	S554C	probably damaging	Het
Fkrp	C	A	7: 16,545,037 (GRCm39)	R275L	possibly damaging	Het
Gbp4	C	T	5: 105,270,986 (GRCm39)	G215D	possibly damaging	Het
Gli2	G	A	1: 118,783,284 (GRCm39)	L239F	probably damaging	Het
Gpr146	A	G	5: 139,378,573 (GRCm39)	D125G	probably damaging	Het
Hectd4	C	A	5: 121,494,259 (GRCm39)		probably null	Het
Invs	G	A	4: 48,397,534 (GRCm39)	V370I	possibly damaging	Het
Kdm2b	A	G	5: 123,018,302 (GRCm39)	V1040A	probably damaging	Het
Kidins220	T	A	12: 25,088,434 (GRCm39)	V1059D	possibly damaging	Het
Kif26a	T	A	12: 112,141,926 (GRCm39)	S727T	probably damaging	Het
Kifbp	T	C	10: 62,410,813 (GRCm39)		probably null	Het
Klk1b27	A	G	7: 43,705,169 (GRCm39)	H112R	probably benign	Het
Krt72	T	G	15: 101,685,187 (GRCm39)		probably null	Het
Lactb	C	T	9: 66,878,172 (GRCm39)	R219H	probably damaging	Het
Lrig2	A	T	3: 104,373,045 (GRCm39)	I612N	probably damaging	Het
Meaf6	A	C	4: 124,983,697 (GRCm39)	N51T	probably damaging	Het
Myo3a	G	A	2: 22,412,143 (GRCm39)	G713S	probably damaging	Het
Nr4a3	C	T	4: 48,083,255 (GRCm39)	T596I	probably damaging	Het
Or10ak14	A	T	4: 118,611,224 (GRCm39)	C172*	probably null	Het
Or4f14	C	G	2: 111,743,228 (GRCm39)	G16R	possibly damaging	Het
Pam	A	G	1: 97,765,752 (GRCm39)	V759A	possibly damaging	Het
Pcare	T	A	17: 72,051,701 (GRCm39)	E1217V	probably damaging	Het
Pds5a	T	A	5: 65,772,944 (GRCm39)	I1220F	probably benign	Het
Phldb2	T	A	16: 45,568,240 (GRCm39)	M1222L	possibly damaging	Het
Phospho1	C	T	11: 95,721,513 (GRCm39)	A61V	possibly damaging	Het
Pnpla7	G	A	2: 24,906,550 (GRCm39)	V638I	possibly damaging	Het
Pramel34	C	A	5: 93,785,391 (GRCm39)		probably null	Het
Ptf1a	T	A	2: 19,451,848 (GRCm39)	D282E	probably damaging	Het
Ptgs2	A	T	1: 149,975,879 (GRCm39)		probably benign	Het
Racgap1	T	C	15: 99,522,156 (GRCm39)	R471G	probably damaging	Het
Rptn	T	C	3: 93,303,419 (GRCm39)	S251P	possibly damaging	Het
Shcbp1	T	C	8: 4,794,507 (GRCm39)	M429V	probably benign	Het
Shprh	T	C	10: 11,062,637 (GRCm39)	L1248P	probably damaging	Het
Son	T	C	16: 91,456,835 (GRCm39)		probably benign	Het
Sppl3	T	C	5: 115,233,995 (GRCm39)	L355P	probably damaging	Het
Tbc1d31	A	T	15: 57,818,778 (GRCm39)	R794W	probably damaging	Het
Telo2	T	C	17: 25,320,386 (GRCm39)	Y766C	probably damaging	Het
Tfr2	A	G	5: 137,572,793 (GRCm39)		probably null	Het
Tle4	T	C	19: 14,429,056 (GRCm39)	D722G	probably damaging	Het
Tprg1l	A	G	4: 154,243,862 (GRCm39)	V98A	probably benign	Het
Trak1	C	T	9: 121,272,822 (GRCm39)	R237C	probably benign	Het
Vmn2r113	T	C	17: 23,177,715 (GRCm39)	I833T	probably damaging	Het
Vmn2r118	T	A	17: 55,915,093 (GRCm39)	S518C	probably damaging	Het
Vmn2r49	A	G	7: 9,710,524 (GRCm39)	I736T	probably damaging	Het
Wdr38	T	A	2: 38,889,970 (GRCm39)		probably null	Het
Wee2	A	G	6: 40,429,553 (GRCm39)	E180G	probably benign	Het
Zbtb1	T	C	12: 76,432,604 (GRCm39)	S197P	possibly damaging	Het
Zc3h7a	T	C	16: 10,976,629 (GRCm39)		probably null	Het
Zfp516	T	A	18: 82,973,835 (GRCm39)	L11Q	probably damaging	Het
Zfp623	G	A	15: 75,819,317 (GRCm39)	R91H	probably benign	Het
Zkscan7	G	A	9: 122,725,170 (GRCm39)	R713Q	probably benign	Het

Other mutations in Mtap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00900:Mtap	APN	4	89,090,594 (GRCm39)	nonsense	probably null
IGL01330:Mtap	APN	4	89,089,460 (GRCm39)	missense	probably damaging	1.00
R0003:Mtap	UTSW	4	89,070,235 (GRCm39)	splice site	probably benign
R1061:Mtap	UTSW	4	89,074,821 (GRCm39)	missense	probably benign	0.15
R1156:Mtap	UTSW	4	89,089,459 (GRCm39)	missense	probably benign	0.41
R1692:Mtap	UTSW	4	89,095,151 (GRCm39)	missense	probably benign	0.00
R4585:Mtap	UTSW	4	89,090,511 (GRCm39)	missense	probably benign
R7424:Mtap	UTSW	4	89,097,699 (GRCm39)	splice site	probably null
R9032:Mtap	UTSW	4	89,090,515 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TTCAGAGTCATTGCCCTTTGG -3'
(R):5'- TTGGCTGATGAGCTTGGAAC -3'

Sequencing Primer
(F):5'- CCTTTGGGGATTGGCAGGAATG -3'
(R):5'- TGATGAGCTTGGAACGCCCC -3'

Posted On

2018-06-06