Incidental Mutation 'RF010:Mep1a'
ID 603164
Institutional Source Beutler Lab
Gene Symbol Mep1a
Ensembl Gene ENSMUSG00000023914
Gene Name meprin 1 alpha
Synonyms Mep-1, meprin A alpha-subunit, meprin alpha, Mep-1a, Mep1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # RF010 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 43785215-43813703 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 43797126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 314 (H314Y)
Ref Sequence ENSEMBL: ENSMUSP00000024707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024707] [ENSMUST00000117137]
AlphaFold P28825
Predicted Effect probably damaging
Transcript: ENSMUST00000024707
AA Change: H314Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: H314Y

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
ZnMc 83 222 1.16e-41 SMART
MAM 276 445 5.38e-61 SMART
MATH 445 590 6.9e-17 SMART
EGF 687 724 1.35e-2 SMART
transmembrane domain 727 749 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117137
AA Change: H301Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: H301Y

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
ZnMc 70 209 1.16e-41 SMART
MAM 263 432 5.38e-61 SMART
MATH 432 577 6.9e-17 SMART
EGF 674 711 1.35e-2 SMART
transmembrane domain 714 736 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased litter size, reduced LPS-induced renal injury and bladder inflammation, and increased susceptibility to sodium dextran sulfate-induced colitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik GGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG GGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG 17: 35,879,473 (GRCm39) probably benign Het
Acap3 CCTGGGCTGCTG CCTGGGCTGCTGCATACTGGGCTGCTG 4: 155,989,553 (GRCm39) probably benign Het
Ankrd28 A G 14: 31,500,943 (GRCm39) I16T probably damaging Het
AY761185 GCACTGTGGGC G 8: 21,433,927 (GRCm39) probably null Het
Bend3 T A 10: 43,386,180 (GRCm39) F191Y possibly damaging Het
Calhm1 GTGGC GTGGCTGTGGCTATGGC 19: 47,129,712 (GRCm39) probably benign Het
Camkv CGCTGCTGC CGC 9: 107,825,059 (GRCm39) probably benign Het
Cfap251 TCTCA T 5: 123,412,224 (GRCm39) probably benign Het
Chga GCA GCATCA 12: 102,527,662 (GRCm39) probably benign Het
Cngb1 CTCTGGCTCTGGCTCTGGCTCTG C 8: 96,030,278 (GRCm39) probably null Het
Cnot3 T C 7: 3,659,068 (GRCm39) V438A probably benign Het
Cntnap5c T A 17: 58,593,790 (GRCm39) W710R probably damaging Het
Dyrk1a A G 16: 94,478,422 (GRCm39) S404G probably benign Het
Efhd2 GCCGCC GCCGCCTCCGCC 4: 141,602,075 (GRCm39) probably benign Het
Flywch1 GTGT GTGTGGGGAGGCTACGTACTCACCCACACCTGTTGT 17: 23,981,149 (GRCm39) probably null Het
Fmn2 T A 1: 174,409,581 (GRCm39) S605T unknown Het
Gab3 TCT TCTGCT X: 74,043,617 (GRCm39) probably benign Het
Gabre GCTC GCTCCGTCTC X: 71,313,666 (GRCm39) probably benign Het
Gli3 A G 13: 15,900,954 (GRCm39) Y1447C probably damaging Het
Hibch T C 1: 52,952,891 (GRCm39) V297A probably benign Het
Ifi213 C G 1: 173,409,719 (GRCm39) D462H probably damaging Het
Kcnh8 G A 17: 53,285,267 (GRCm39) R1079H probably benign Het
Lce1m GCTGCTGCC GCTGCTGCCCCCACTGCTGCC 3: 92,925,597 (GRCm39) probably benign Het
Lpo A G 11: 87,711,928 (GRCm39) V43A probably benign Het
Map1a A AGCTCCAGCTCCAGCCCCACCTCCAGCTCCC 2: 121,136,799 (GRCm39) probably benign Het
Mapk9 A G 11: 49,745,083 (GRCm39) probably benign Het
Myh3 ATTAC ATTACTTAC 11: 66,977,182 (GRCm39) probably null Het
Myh3 AC ACTTCC 11: 66,977,185 (GRCm39) probably null Het
Nusap1 ACGTTAGCAGTGAGGAGCAA ACGTTAGCAGTGAGGAGCAAACTGAGATACTCGTTAGCAGTGAGGAGCAA 2: 119,458,065 (GRCm39) probably benign Het
Or10ag56 T A 2: 87,139,184 (GRCm39) V37E possibly damaging Het
Or14a259 T C 7: 86,012,594 (GRCm39) Q317R probably benign Het
Pdcd11 AGGAGG A 19: 47,101,890 (GRCm39) probably null Het
Pfkm T A 15: 98,027,674 (GRCm39) I651N possibly damaging Het
Phldb3 CCCCCGCCCC CCCCC 7: 24,325,920 (GRCm39) probably null Het
Polr1has CACCACCAC CACCACCACCACCACCACCACTACCACCAC 17: 37,275,955 (GRCm39) probably benign Het
Prkce T C 17: 86,795,627 (GRCm39) V288A probably damaging Het
Pxmp4 A G 2: 154,434,183 (GRCm39) S93P probably damaging Het
Rfc4 T C 16: 22,946,232 (GRCm39) T17A probably benign Het
Rfx4 CTCTCTCT CTCTCTCTCTCTCTCTATCTCTCT 10: 84,694,351 (GRCm39) probably benign Het
Ryr3 G T 2: 112,606,015 (GRCm39) A2415E probably damaging Het
Sbp ACAAAGATGCTGACAACAAAGATGCTGACA ACAAAGATGCTGACACCAAAGATGCTGACAACAAAGATGCTGACA 17: 24,164,325 (GRCm39) probably benign Het
Sec24c T A 14: 20,738,783 (GRCm39) probably null Het
Sec63 C A 10: 42,682,620 (GRCm39) A437E probably benign Het
Six3 GCG GCGTCG 17: 85,928,783 (GRCm39) probably benign Het
Slco5a1 G A 1: 12,942,171 (GRCm39) T825I probably damaging Het
Spmap2l CAG CAGCGATCCTCCCCAGTCCCGCAAGGCGAG 5: 77,164,274 (GRCm39) probably benign Het
Stard8 GGA GGAAGA X: 98,110,123 (GRCm39) probably benign Het
Stxbp1 A G 2: 32,711,927 (GRCm39) V30A probably benign Het
Supt20 AGCAGC AGCAGCGGCAGC 3: 54,635,083 (GRCm39) probably benign Het
Syne1 T A 10: 5,196,386 (GRCm39) D3882V possibly damaging Het
T A G 17: 8,660,540 (GRCm39) T384A probably benign Het
Tbc1d12 CGGGGCGG CG 19: 38,825,384 (GRCm39) probably benign Het
Tcof1 CAG CAGAAG 18: 60,968,816 (GRCm39) probably benign Het
Tcstv5 A T 13: 120,411,582 (GRCm39) V8E probably benign Het
Tfeb GCA GCAACA 17: 48,097,019 (GRCm39) probably benign Het
Tfeb CAG CAGAAG 17: 48,097,032 (GRCm39) probably benign Het
Thumpd3 C T 6: 113,033,006 (GRCm39) A248V probably damaging Het
Tlcd4 T A 3: 121,022,533 (GRCm39) I103L probably benign Het
Tmem181a T C 17: 6,330,978 (GRCm39) probably null Het
Trim41 A T 11: 48,698,165 (GRCm39) H600Q probably damaging Het
Ttbk2 A T 2: 120,620,820 (GRCm39) C147* probably null Het
Ttll2 C T 17: 7,618,737 (GRCm39) A397T probably benign Het
Unc79 T A 12: 103,079,046 (GRCm39) L1737Q probably benign Het
Usp47 T A 7: 111,692,145 (GRCm39) V869E probably damaging Het
Vmn1r231 T A 17: 21,110,255 (GRCm39) Q220L probably damaging Het
Vmn2r26 C T 6: 124,016,448 (GRCm39) T304I possibly damaging Het
Wrn T C 8: 33,778,793 (GRCm39) N839S probably benign Het
Zfp384 GCCCAGGCCCAGGCCCAGGCCCAG GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG 6: 125,013,434 (GRCm39) probably benign Het
Zfp384 GGCCCAGG GGCCCAGGAGCACGCCCAGG 6: 125,013,451 (GRCm39) probably benign Het
Zfyve26 C T 12: 79,302,112 (GRCm39) C1828Y probably damaging Het
Other mutations in Mep1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01016:Mep1a APN 17 43,789,975 (GRCm39) missense probably benign 0.00
IGL02814:Mep1a APN 17 43,788,112 (GRCm39) missense probably benign
IGL03000:Mep1a APN 17 43,785,881 (GRCm39) missense probably benign
IGL03335:Mep1a APN 17 43,788,064 (GRCm39) missense possibly damaging 0.63
IGL03410:Mep1a APN 17 43,788,986 (GRCm39) splice site probably null
PIT4544001:Mep1a UTSW 17 43,793,178 (GRCm39) missense probably damaging 1.00
R0127:Mep1a UTSW 17 43,808,777 (GRCm39) splice site probably benign
R0306:Mep1a UTSW 17 43,813,534 (GRCm39) splice site probably benign
R0329:Mep1a UTSW 17 43,808,789 (GRCm39) critical splice donor site probably null
R0330:Mep1a UTSW 17 43,808,789 (GRCm39) critical splice donor site probably null
R0358:Mep1a UTSW 17 43,789,841 (GRCm39) missense possibly damaging 0.92
R0667:Mep1a UTSW 17 43,789,081 (GRCm39) missense probably benign 0.06
R1101:Mep1a UTSW 17 43,802,584 (GRCm39) missense probably benign 0.03
R1458:Mep1a UTSW 17 43,802,563 (GRCm39) missense probably damaging 1.00
R1525:Mep1a UTSW 17 43,802,527 (GRCm39) missense probably damaging 1.00
R1992:Mep1a UTSW 17 43,813,573 (GRCm39) missense probably benign
R2014:Mep1a UTSW 17 43,808,797 (GRCm39) missense probably benign 0.01
R2212:Mep1a UTSW 17 43,788,154 (GRCm39) missense probably benign 0.02
R3946:Mep1a UTSW 17 43,785,932 (GRCm39) nonsense probably null
R4400:Mep1a UTSW 17 43,785,897 (GRCm39) missense possibly damaging 0.77
R4598:Mep1a UTSW 17 43,802,469 (GRCm39) critical splice donor site probably null
R4616:Mep1a UTSW 17 43,797,132 (GRCm39) missense possibly damaging 0.81
R4688:Mep1a UTSW 17 43,793,139 (GRCm39) missense possibly damaging 0.89
R5085:Mep1a UTSW 17 43,789,035 (GRCm39) missense probably damaging 0.99
R5355:Mep1a UTSW 17 43,788,037 (GRCm39) missense probably damaging 0.98
R5832:Mep1a UTSW 17 43,789,055 (GRCm39) missense probably benign 0.27
R5833:Mep1a UTSW 17 43,789,055 (GRCm39) missense probably benign 0.27
R5834:Mep1a UTSW 17 43,789,055 (GRCm39) missense probably benign 0.27
R5835:Mep1a UTSW 17 43,789,055 (GRCm39) missense probably benign 0.27
R6280:Mep1a UTSW 17 43,813,283 (GRCm39) missense probably damaging 1.00
R6340:Mep1a UTSW 17 43,790,124 (GRCm39) missense probably benign 0.00
R6340:Mep1a UTSW 17 43,789,949 (GRCm39) missense probably benign 0.00
R6934:Mep1a UTSW 17 43,793,121 (GRCm39) missense probably damaging 0.99
R7247:Mep1a UTSW 17 43,785,995 (GRCm39) missense possibly damaging 0.67
R7660:Mep1a UTSW 17 43,789,868 (GRCm39) missense probably benign 0.29
R7685:Mep1a UTSW 17 43,790,065 (GRCm39) missense probably benign 0.00
R7703:Mep1a UTSW 17 43,788,997 (GRCm39) missense possibly damaging 0.69
R7871:Mep1a UTSW 17 43,790,126 (GRCm39) missense probably benign 0.33
R8131:Mep1a UTSW 17 43,813,558 (GRCm39) missense probably benign 0.00
R8783:Mep1a UTSW 17 43,789,081 (GRCm39) missense probably benign 0.00
R8880:Mep1a UTSW 17 43,808,808 (GRCm39) missense possibly damaging 0.46
R9448:Mep1a UTSW 17 43,805,869 (GRCm39) critical splice acceptor site probably null
R9455:Mep1a UTSW 17 43,805,867 (GRCm39) missense probably benign 0.00
Z1088:Mep1a UTSW 17 43,802,487 (GRCm39) missense probably damaging 1.00
Z1176:Mep1a UTSW 17 43,788,211 (GRCm39) missense probably benign 0.08
Z1177:Mep1a UTSW 17 43,797,197 (GRCm39) missense probably damaging 1.00
Z1177:Mep1a UTSW 17 43,797,188 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATTAAGGTTTCCTGCATGCAG -3'
(R):5'- ATGACAGTAAGGGCCTTTGGG -3'

Sequencing Primer
(F):5'- CACAGCATGGAGACTTTTTACTGAG -3'
(R):5'- GTGGCTTAAGACATTAACTCTTTGG -3'
Posted On 2019-12-04