Incidental Mutation 'R6644:Mfap5'
Institutional Source Beutler Lab
Gene Symbol Mfap5
Ensembl Gene ENSMUSG00000030116
Gene Namemicrofibrillar associated protein 5
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.134) question?
Stock #R6644 (G1)
Quality Score133.008
Status Validated
Chromosomal Location122505845-122529290 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 122520596 bp
Amino Acid Change Phenylalanine to Leucine at position 26 (F26L)
Ref Sequence ENSEMBL: ENSMUSP00000116769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032210] [ENSMUST00000118626] [ENSMUST00000121656] [ENSMUST00000142896] [ENSMUST00000148517]
Predicted Effect probably damaging
Transcript: ENSMUST00000032210
AA Change: F38L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032210
Gene: ENSMUSG00000030116
AA Change: F38L

Pfam:MAGP 2 117 1.8e-56 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118626
AA Change: F38L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113742
Gene: ENSMUSG00000030116
AA Change: F38L

Pfam:MAGP 2 121 3.5e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121656
SMART Domains Protein: ENSMUSP00000112596
Gene: ENSMUSG00000030116

signal peptide 1 28 N/A INTRINSIC
Pfam:MAGP 31 69 8.5e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126357
Predicted Effect probably damaging
Transcript: ENSMUST00000142896
AA Change: F26L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116769
Gene: ENSMUSG00000030116
AA Change: F26L

Pfam:MAGP 2 117 9.8e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000148517
AA Change: F38L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122863
Gene: ENSMUSG00000030116
AA Change: F38L

Pfam:MAGP 3 129 1.3e-60 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.3%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 25-kD microfibril-associated glycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. Deficiency of this gene in mice results in neutropenia. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased circulating neutrophils. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610037L13Rik T G 4: 107,894,922 I130S probably damaging Het
Abca7 C T 10: 80,008,764 P1461L probably damaging Het
Abhd14a T C 9: 106,444,273 Y10C probably damaging Het
Adcy2 C T 13: 68,668,552 V772M possibly damaging Het
Apob A G 12: 8,009,077 M2487V probably damaging Het
B4galnt1 T C 10: 127,171,793 probably null Het
Cabp7 C T 11: 4,740,396 V76I probably benign Het
Cbr3 A G 16: 93,690,511 Y194C probably damaging Het
Cdk18 G A 1: 132,122,069 Q58* probably null Het
Cryba4 T C 5: 112,246,762 D167G probably damaging Het
Dner T C 1: 84,395,707 N588S probably damaging Het
Dnm1l T C 16: 16,329,873 I343V probably benign Het
Fam168b C A 1: 34,836,741 G21V probably damaging Het
Fam71d T A 12: 78,715,286 D241E probably damaging Het
Fbxw17 G A 13: 50,423,219 R49Q probably damaging Het
Gm10332 T A 14: 54,820,159 F59I probably damaging Het
Gm6803 A G 12: 88,018,690 F28L probably benign Het
Gm8765 A G 13: 50,702,035 T570A possibly damaging Het
Gnai3 A G 3: 108,123,536 probably null Het
Helz T A 11: 107,632,261 M75K possibly damaging Het
Hnrnph3 C T 10: 63,018,893 probably benign Het
Ifi211 C T 1: 173,905,552 C181Y probably benign Het
Immp1l A G 2: 105,937,045 K83R probably damaging Het
Itga6 G A 2: 71,841,124 G740R probably damaging Het
Klhl1 T C 14: 96,517,918 T134A probably benign Het
Klhl7 A G 5: 24,149,246 D353G probably damaging Het
Map3k1 A G 13: 111,752,449 S1325P probably benign Het
Map3k4 A G 17: 12,232,410 probably null Het
Meioc G A 11: 102,668,460 probably null Het
Myo5a A G 9: 75,146,967 T386A probably damaging Het
Npc1l1 A T 11: 6,214,013 L1266Q probably damaging Het
Npc1l1 G T 11: 6,214,014 L1266M probably damaging Het
Olfr1221 A G 2: 89,111,981 M177T probably benign Het
Olfr612 C A 7: 103,539,058 V59F possibly damaging Het
Pbld1 T A 10: 63,075,063 S233T probably damaging Het
Phf12 A G 11: 78,026,092 *789W probably null Het
Sf3b2 A T 19: 5,279,964 probably null Het
Slc23a3 A G 1: 75,128,547 I459T probably damaging Het
Sptbn2 C G 19: 4,749,012 R2037G probably benign Het
Stard9 A C 2: 120,695,772 M837L probably benign Het
Stx5a A T 19: 8,755,248 probably benign Het
Tmc7 A G 7: 118,538,162 V719A probably benign Het
Trank1 T A 9: 111,364,834 I642K possibly damaging Het
Trim34a T C 7: 104,261,037 Y349H probably damaging Het
Uba7 A G 9: 107,981,472 Y834C possibly damaging Het
Ube2d1 A G 10: 71,256,700 S105P possibly damaging Het
Vps13a A G 19: 16,744,919 V343A possibly damaging Het
Zbtb37 G A 1: 161,032,073 Q221* probably null Het
Zfp119b T C 17: 55,939,148 N346S probably benign Het
Zfp708 G T 13: 67,070,721 T358K possibly damaging Het
Other mutations in Mfap5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00647:Mfap5 APN 6 122526016 missense probably damaging 0.97
IGL02348:Mfap5 APN 6 122526787 missense possibly damaging 0.95
R0094:Mfap5 UTSW 6 122525992 missense probably damaging 0.98
R0094:Mfap5 UTSW 6 122525992 missense probably damaging 0.98
R0827:Mfap5 UTSW 6 122520920 missense probably damaging 0.98
R1279:Mfap5 UTSW 6 122526763 splice site probably null
R2519:Mfap5 UTSW 6 122525989 missense probably damaging 1.00
R5947:Mfap5 UTSW 6 122525986 missense probably damaging 1.00
R7296:Mfap5 UTSW 6 122528422 missense probably benign 0.01
R7479:Mfap5 UTSW 6 122526862 critical splice donor site probably null
R7548:Mfap5 UTSW 6 122526034 missense probably benign 0.07
R7820:Mfap5 UTSW 6 122520921 missense probably damaging 0.99
R8270:Mfap5 UTSW 6 122521930 critical splice donor site probably null
X0064:Mfap5 UTSW 6 122514385 missense probably null 0.12
Predicted Primers PCR Primer

Sequencing Primer
Posted On2018-06-22