Incidental Mutation 'R4695:Metap1d'
ID 355604
Institutional Source Beutler Lab
Gene Symbol Metap1d
Ensembl Gene ENSMUSG00000041921
Gene Name methionyl aminopeptidase type 1D (mitochondrial)
Synonyms 2310066F24Rik, 3110033D18Rik, Metapl1
MMRRC Submission 042016-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.299) question?
Stock # R4695 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 71283625-71355538 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 71355305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 336 (*336W)
Ref Sequence ENSEMBL: ENSMUSP00000048190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037119] [ENSMUST00000037210] [ENSMUST00000126400] [ENSMUST00000152711] [ENSMUST00000145444]
AlphaFold Q9CPW9
Predicted Effect probably benign
Transcript: ENSMUST00000037119
SMART Domains Protein: ENSMUSP00000042413
Gene: ENSMUSG00000041911

DomainStartEndE-ValueType
low complexity region 25 36 N/A INTRINSIC
HOX 128 190 2.05e-23 SMART
low complexity region 208 232 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000037210
AA Change: *336W
SMART Domains Protein: ENSMUSP00000048190
Gene: ENSMUSG00000041921
AA Change: *336W

DomainStartEndE-ValueType
low complexity region 35 46 N/A INTRINSIC
low complexity region 49 65 N/A INTRINSIC
Pfam:Peptidase_M24 95 322 5.1e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122990
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124875
Predicted Effect probably benign
Transcript: ENSMUST00000126400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139045
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140271
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145088
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143767
Predicted Effect probably benign
Transcript: ENSMUST00000152711
SMART Domains Protein: ENSMUSP00000133288
Gene: ENSMUSG00000041911

DomainStartEndE-ValueType
low complexity region 25 36 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145444
SMART Domains Protein: ENSMUSP00000134713
Gene: ENSMUSG00000041911

DomainStartEndE-ValueType
low complexity region 25 36 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The N-terminal methionine excision pathway is an essential process in which the N-terminal methionine is removed from many proteins, thus facilitating subsequent protein modification. In mitochondria, enzymes that catalyze this reaction are celled methionine aminopeptidases (MetAps, or MAPs; EC 3.4.11.18) (Serero et al., 2003 [PubMed 14532271]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts10 T A 17: 33,750,713 (GRCm39) M251K possibly damaging Het
Adcy2 A T 13: 68,875,962 (GRCm39) H513Q possibly damaging Het
Afg2a T G 3: 37,512,474 (GRCm39) F713C probably damaging Het
Ahctf1 A G 1: 179,580,619 (GRCm39) L1861P possibly damaging Het
Apc2 C A 10: 80,146,877 (GRCm39) R615S probably damaging Het
Arhgap45 A C 10: 79,861,364 (GRCm39) D509A probably damaging Het
Atp6v1c2 T C 12: 17,351,208 (GRCm39) T108A probably benign Het
Blm T A 7: 80,143,976 (GRCm39) D821V probably damaging Het
C3 T A 17: 57,528,057 (GRCm39) I721L probably benign Het
Ccdc13 A T 9: 121,649,826 (GRCm39) V207E probably damaging Het
Ccndbp1 C T 2: 120,845,208 (GRCm39) probably benign Het
Cd180 A C 13: 102,842,268 (GRCm39) Q438P probably benign Het
Cd248 C T 19: 5,118,473 (GRCm39) T107M probably damaging Het
Cdan1 G A 2: 120,558,864 (GRCm39) R445C probably damaging Het
Cic C A 7: 24,973,013 (GRCm39) H915N possibly damaging Het
Cox8c T C 12: 102,865,742 (GRCm39) S40P possibly damaging Het
Cyp2d34 A T 15: 82,501,092 (GRCm39) C347S probably benign Het
Dhx30 A T 9: 109,914,356 (GRCm39) F974I probably damaging Het
Dlec1 A T 9: 118,972,221 (GRCm39) T1414S probably benign Het
Dlg2 C A 7: 92,087,170 (GRCm39) probably null Het
Dynlt5 T A 4: 102,861,426 (GRCm39) I136K probably damaging Het
Dzip1l T A 9: 99,529,258 (GRCm39) M329K probably benign Het
Dzip3 A T 16: 48,771,924 (GRCm39) L582I probably damaging Het
Emilin2 T C 17: 71,559,773 (GRCm39) Y1068C probably damaging Het
Fam221b T A 4: 43,659,622 (GRCm39) probably null Het
Fbxw22 A G 9: 109,207,939 (GRCm39) I444T probably damaging Het
Flnc T A 6: 29,440,428 (GRCm39) N245K probably damaging Het
Fnip1 T A 11: 54,390,245 (GRCm39) I380N probably damaging Het
Gbf1 C T 19: 46,247,606 (GRCm39) R181* probably null Het
Igkv6-17 T A 6: 70,348,486 (GRCm39) F12I probably benign Het
Itln1 C A 1: 171,358,645 (GRCm39) G174V probably damaging Het
Lrrc52 A G 1: 167,293,660 (GRCm39) probably null Het
LTO1 T C 7: 144,482,715 (GRCm39) probably null Het
Matn2 A G 15: 34,403,071 (GRCm39) Y432C probably damaging Het
Mgam2-ps T A 6: 40,779,489 (GRCm39) noncoding transcript Het
Mrps9 T A 1: 42,901,675 (GRCm39) V61D possibly damaging Het
Myh7b T C 2: 155,456,097 (GRCm39) Y161H probably damaging Het
Myh9 T A 15: 77,653,053 (GRCm39) D1428V probably damaging Het
N4bp3 A T 11: 51,535,306 (GRCm39) probably null Het
Nat9 T A 11: 115,075,416 (GRCm39) Q75L probably benign Het
Nop2 T C 6: 125,121,519 (GRCm39) V767A probably benign Het
Ntrk2 A G 13: 59,274,307 (GRCm39) K728E probably damaging Het
Or51e1 T G 7: 102,358,764 (GRCm39) C99W probably damaging Het
Or5p72 G A 7: 108,022,196 (GRCm39) M139I probably benign Het
Or7g21 T A 9: 19,032,306 (GRCm39) H15Q probably null Het
Pcdhgb2 A G 18: 37,825,375 (GRCm39) T789A probably benign Het
Pcyt2 T C 11: 120,502,000 (GRCm39) D321G probably benign Het
Rad9a G A 19: 4,250,560 (GRCm39) R85C probably damaging Het
Rbbp8 A T 18: 11,854,839 (GRCm39) K355* probably null Het
Rhag T C 17: 41,147,358 (GRCm39) Y407H probably damaging Het
Robo4 G A 9: 37,314,495 (GRCm39) V161M probably damaging Het
Rpl27-ps3 C A 18: 6,332,922 (GRCm39) N97K probably benign Het
Slc45a4 A G 15: 73,453,924 (GRCm39) I691T possibly damaging Het
Slc9a9 A T 9: 94,818,502 (GRCm39) probably benign Het
Stard13 A G 5: 150,984,280 (GRCm39) F619L probably benign Het
Stt3b A T 9: 115,083,862 (GRCm39) V438E probably damaging Het
Tacr3 C T 3: 134,535,182 (GRCm39) T50I probably benign Het
Tacr3 G T 3: 134,635,690 (GRCm39) C298F probably damaging Het
Taok3 C T 5: 117,366,131 (GRCm39) T394M probably benign Het
Tgfb1i1 A G 7: 127,848,348 (GRCm39) D128G probably damaging Het
Tgfbr3l G T 8: 4,300,574 (GRCm39) V251L probably benign Het
Tom1l2 C G 11: 60,161,259 (GRCm39) R84P probably damaging Het
Top3a A G 11: 60,633,238 (GRCm39) S953P probably benign Het
Trappc10 T C 10: 78,033,697 (GRCm39) K957E probably damaging Het
Ttn T A 2: 76,565,668 (GRCm39) E28228V probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vdr A T 15: 97,756,801 (GRCm39) probably null Het
Zfp42 A T 8: 43,749,168 (GRCm39) L111Q probably damaging Het
Other mutations in Metap1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Metap1d APN 2 71,342,506 (GRCm39) missense probably damaging 1.00
IGL00475:Metap1d APN 2 71,346,090 (GRCm39) missense probably damaging 1.00
IGL01733:Metap1d APN 2 71,341,777 (GRCm39) missense probably damaging 1.00
R6807_Metap1d_570 UTSW 2 71,341,858 (GRCm39) missense probably damaging 1.00
R0294:Metap1d UTSW 2 71,352,889 (GRCm39) missense probably benign
R1678:Metap1d UTSW 2 71,355,121 (GRCm39) missense possibly damaging 0.95
R1917:Metap1d UTSW 2 71,341,871 (GRCm39) missense probably damaging 1.00
R1934:Metap1d UTSW 2 71,352,927 (GRCm39) missense possibly damaging 0.95
R2179:Metap1d UTSW 2 71,283,715 (GRCm39) missense probably benign
R2512:Metap1d UTSW 2 71,352,954 (GRCm39) missense probably damaging 0.97
R4614:Metap1d UTSW 2 71,355,292 (GRCm39) missense probably benign 0.02
R6236:Metap1d UTSW 2 71,346,022 (GRCm39) missense probably benign 0.05
R6248:Metap1d UTSW 2 71,346,104 (GRCm39) nonsense probably null
R6807:Metap1d UTSW 2 71,341,858 (GRCm39) missense probably damaging 1.00
R7296:Metap1d UTSW 2 71,337,129 (GRCm39) missense probably benign 0.05
R7796:Metap1d UTSW 2 71,342,506 (GRCm39) missense probably damaging 1.00
R8183:Metap1d UTSW 2 71,337,207 (GRCm39) missense possibly damaging 0.66
R8337:Metap1d UTSW 2 71,345,982 (GRCm39) missense probably damaging 1.00
R9228:Metap1d UTSW 2 71,352,900 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CCAAAGGTGTTTGCCCTGTG -3'
(R):5'- ACAGACTGGACACAATAGGTTTG -3'

Sequencing Primer
(F):5'- TGCCCTGTGATTTTTGAACTG -3'
(R):5'- TTTAAACTTGGGCGGAATATGGAC -3'
Posted On 2015-10-21