Incidental Mutation 'R7240:Mfap3'
ID563156
Institutional Source Beutler Lab
Gene Symbol Mfap3
Ensembl Gene ENSMUSG00000020522
Gene Namemicrofibrillar-associated protein 3
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #R7240 (G1)
Quality Score225.009
Status Validated
Chromosome11
Chromosomal Location57518664-57533815 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 57529756 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 188 (K188E)
Ref Sequence ENSEMBL: ENSMUSP00000020830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020830] [ENSMUST00000108848] [ENSMUST00000108849]
Predicted Effect probably damaging
Transcript: ENSMUST00000020830
AA Change: K188E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020830
Gene: ENSMUSG00000020522
AA Change: K188E

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IGc2 59 124 7.07e-13 SMART
transmembrane domain 141 163 N/A INTRINSIC
low complexity region 284 302 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108848
SMART Domains Protein: ENSMUSP00000104476
Gene: ENSMUSG00000020522

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SCOP:d1iray2 56 107 4e-4 SMART
Blast:IGc2 59 110 4e-32 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000108849
AA Change: K188E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104477
Gene: ENSMUSG00000020522
AA Change: K188E

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IGc2 59 124 7.07e-13 SMART
transmembrane domain 141 163 N/A INTRINSIC
low complexity region 284 302 N/A INTRINSIC
Meta Mutation Damage Score 0.1140 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 96% (50/52)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210017I01Rik A G 3: 92,605,075 I59T unknown Het
Aspm C T 1: 139,478,651 Q1759* probably null Het
Atn1 A T 6: 124,747,898 I124K unknown Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,397,572 probably benign Het
Ccdc88c C T 12: 100,944,939 V879M probably benign Het
Cd300c A G 11: 114,959,783 C65R possibly damaging Het
Cd69 A T 6: 129,270,042 S112T possibly damaging Het
Cdh19 T C 1: 110,893,407 T534A probably benign Het
Cdk5rap2 T A 4: 70,291,908 D701V probably damaging Het
D130052B06Rik A G 11: 33,623,874 H157R possibly damaging Het
Dpf1 T A 7: 29,311,627 F150L probably benign Het
Dsg1c T C 18: 20,283,109 L689P probably damaging Het
Dstyk G A 1: 132,454,123 M538I probably benign Het
E4f1 T A 17: 24,444,325 I669F probably damaging Het
Gm7138 T C 10: 77,776,755 T64A unknown Het
Gnai2 A C 9: 107,615,773 D310E Het
Iqca A G 1: 90,070,550 V567A possibly damaging Het
Iqgap1 A T 7: 80,759,839 N249K probably benign Het
Lamc1 A G 1: 153,234,650 V1093A possibly damaging Het
N4bp2 T A 5: 65,794,545 V431D probably damaging Het
Notch4 A G 17: 34,576,471 T792A probably benign Het
Ntn4 A G 10: 93,745,741 H592R probably damaging Het
Ofcc1 A G 13: 40,208,841 C202R probably benign Het
Olfr13 A G 6: 43,174,501 K172E probably benign Het
Olfr418 T C 1: 173,270,994 I273T probably benign Het
Olfr476 T C 7: 107,968,188 S264P probably benign Het
Olfr497 A G 7: 108,422,933 M121V probably damaging Het
Olfr922 A G 9: 38,815,713 D70G probably benign Het
Olfr938 A T 9: 39,078,610 M45K probably damaging Het
Parpbp G A 10: 88,124,940 T228I probably damaging Het
Pcdhgb8 G A 18: 37,763,703 V609M probably damaging Het
Pla2g4d T C 2: 120,270,349 N543S probably damaging Het
Puf60 A G 15: 76,072,539 probably benign Het
Rbm6 A T 9: 107,852,896 D184E probably damaging Het
Rnase9 A C 14: 51,038,979 S181A probably benign Het
Rnpc3 T A 3: 113,616,831 R270S probably damaging Het
Rundc1 T C 11: 101,431,548 probably null Het
Ryr1 T C 7: 29,052,015 S3715G possibly damaging Het
Scn3a A T 2: 65,469,042 D1373E possibly damaging Het
Serpina3k T G 12: 104,340,602 I31S probably benign Het
Sipa1l2 A G 8: 125,469,860 F712L probably damaging Het
Slc22a29 A G 19: 8,161,511 V529A probably damaging Het
Tdrd3 A G 14: 87,458,803 N58S probably benign Het
Tmc2 C T 2: 130,234,804 T350I possibly damaging Het
Tpst2 T C 5: 112,307,678 C28R probably benign Het
Trbv21 A T 6: 41,202,958 K69N probably benign Het
Trpm2 A G 10: 77,935,876 probably null Het
Ttn A G 2: 76,848,990 V10796A unknown Het
Ush2a A G 1: 188,911,661 T4407A possibly damaging Het
Vmn2r95 A G 17: 18,451,963 H726R probably benign Het
Zfp777 A G 6: 48,044,449 S80P probably benign Het
Other mutations in Mfap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
shrill UTSW 11 57528291 critical splice donor site probably null
yowl UTSW 11 57529756 missense probably damaging 1.00
R0479:Mfap3 UTSW 11 57529643 missense probably damaging 1.00
R1502:Mfap3 UTSW 11 57528149 missense probably benign 0.01
R1861:Mfap3 UTSW 11 57528206 missense probably benign 0.31
R1911:Mfap3 UTSW 11 57529736 missense probably damaging 1.00
R3111:Mfap3 UTSW 11 57529580 missense probably damaging 1.00
R4194:Mfap3 UTSW 11 57529703 missense probably damaging 1.00
R4696:Mfap3 UTSW 11 57528291 critical splice donor site probably null
R5196:Mfap3 UTSW 11 57529813 missense probably damaging 1.00
R6339:Mfap3 UTSW 11 57529772 missense probably damaging 1.00
R7120:Mfap3 UTSW 11 57528217 missense probably damaging 1.00
R7223:Mfap3 UTSW 11 57530240 missense probably benign 0.07
R7423:Mfap3 UTSW 11 57529503 missense probably damaging 1.00
Z1088:Mfap3 UTSW 11 57528142 missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- CCGTGGGCTCTATACATGTATC -3'
(R):5'- ATTTCCTCAACAAAGGCCCG -3'

Sequencing Primer
(F):5'- GTGGGCTCTATACATGTATCATCAC -3'
(R):5'- GCCCGGCAGTTCAGAATAAG -3'
Posted On2019-06-26