Incidental Mutation 'R1911:Mfap3'
ID210293
Institutional Source Beutler Lab
Gene Symbol Mfap3
Ensembl Gene ENSMUSG00000020522
Gene Namemicrofibrillar-associated protein 3
Synonyms
MMRRC Submission 039929-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #R1911 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location57518664-57533815 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 57529736 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 181 (F181S)
Ref Sequence ENSEMBL: ENSMUSP00000104477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020830] [ENSMUST00000108848] [ENSMUST00000108849]
Predicted Effect probably damaging
Transcript: ENSMUST00000020830
AA Change: F181S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020830
Gene: ENSMUSG00000020522
AA Change: F181S

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: F181S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104477
Gene: ENSMUSG00000020522
AA Change: F181S

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 noncoding transcript
Transcript: ENSMUST00000128971
Meta Mutation Damage Score 0.3864 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.2%
Validation Efficiency 99% (99/100)
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700015F17Rik C A 5: 5,452,019 W144C probably benign Het
4930590J08Rik T A 6: 91,950,069 probably benign Het
5430419D17Rik T C 7: 131,238,089 V580A probably damaging Het
Abca7 T C 10: 80,006,634 V1134A probably benign Het
Acaa2 A G 18: 74,792,412 E82G probably benign Het
Acap1 T C 11: 69,881,722 D521G probably damaging Het
Adam19 T C 11: 46,121,454 V259A probably damaging Het
Adssl1 T C 12: 112,633,009 V140A probably benign Het
Aif1 G A 17: 35,172,151 P44L probably benign Het
Aldh3b1 T G 19: 3,921,187 D159A probably damaging Het
Ank1 T C 8: 23,099,650 V589A probably damaging Het
Ano2 G A 6: 126,013,691 D803N probably benign Het
Arid1b A G 17: 5,342,966 E2257G probably damaging Het
Asb17 T C 3: 153,844,501 Y57H probably benign Het
Asph T C 4: 9,453,335 E646G probably damaging Het
Aspm T A 1: 139,478,094 I1573K probably benign Het
Bcas1 C A 2: 170,387,943 D236Y probably damaging Het
Bcas2 G T 3: 103,171,797 G9* probably null Het
Btaf1 A G 19: 36,986,630 Q867R probably benign Het
C87499 T C 4: 88,630,072 Q32R possibly damaging Het
Calhm3 C T 19: 47,155,469 V132I possibly damaging Het
Ccer1 A T 10: 97,694,677 I401F possibly damaging Het
Cecr2 T A 6: 120,762,565 probably benign Het
Cep104 G A 4: 154,006,798 R925Q possibly damaging Het
Cep164 T A 9: 45,770,806 M1900L probably benign Het
Crybg1 A G 10: 43,997,677 V1145A possibly damaging Het
Cyp2a4 T A 7: 26,308,974 N180K possibly damaging Het
Dennd4a T C 9: 64,889,086 L798P probably damaging Het
Dmxl1 T C 18: 49,878,163 I1129T probably benign Het
Dnah2 T C 11: 69,515,752 N555D possibly damaging Het
Dock1 T A 7: 134,999,300 M988K probably damaging Het
Elp4 T A 2: 105,702,743 H419L probably damaging Het
Endov T C 11: 119,502,351 V109A possibly damaging Het
Epha8 T C 4: 136,936,314 Y477C probably damaging Het
Erlin1 A G 19: 44,049,122 M188T probably damaging Het
Fam160a1 T A 3: 85,661,218 D998V probably benign Het
Fhod3 A T 18: 25,112,586 D1231V possibly damaging Het
Gimap3 T A 6: 48,765,712 I95F possibly damaging Het
Gm10717 T G 9: 3,026,317 F205C probably damaging Het
Grk1 C A 8: 13,407,923 D274E probably damaging Het
Gsdmc2 G A 15: 63,827,772 A269V probably benign Het
Krt33a T A 11: 100,012,349 Q289L probably benign Het
Krt76 T A 15: 101,888,165 K403* probably null Het
Lcn4 T C 2: 26,670,595 probably benign Het
Mab21l1 T C 3: 55,783,627 S212P possibly damaging Het
Mapk8ip3 A C 17: 24,904,051 D610E probably benign Het
Mastl G T 2: 23,132,680 S677* probably null Het
Mlkl T C 8: 111,312,100 probably benign Het
Mov10 G A 3: 104,801,560 probably benign Het
Muc5ac T C 7: 141,796,304 F595L probably benign Het
Nbas T A 12: 13,566,144 C2228S probably benign Het
Nit2 G A 16: 57,161,683 probably benign Het
Nod1 C T 6: 54,944,440 V298M probably damaging Het
Olfr1216 A G 2: 89,013,221 L281P probably damaging Het
Olfr399 C A 11: 74,054,384 R125L probably damaging Het
Olfr690 T A 7: 105,329,383 I270F probably benign Het
Olfr800 A T 10: 129,660,112 D102V probably benign Het
Olfr834 T C 9: 18,988,900 L304P probably damaging Het
Osbpl5 C A 7: 143,689,925 R864L probably benign Het
Pcnt G A 10: 76,368,816 T2585M possibly damaging Het
Pepd C T 7: 34,934,749 probably benign Het
Pou6f2 T C 13: 18,151,963 I341V probably damaging Het
Prune2 T A 19: 17,113,674 F281I probably benign Het
Psg19 T G 7: 18,794,268 Q183H probably damaging Het
Psme4 T G 11: 30,815,658 S587A probably benign Het
Ptpro T C 6: 137,400,619 probably benign Het
Rasgrp4 T C 7: 29,138,877 V92A probably damaging Het
Rem1 G A 2: 152,634,535 V238M probably damaging Het
Rexo5 C T 7: 119,799,644 A68V probably damaging Het
Robo2 A T 16: 73,958,325 N769K probably damaging Het
Sfrp5 C T 19: 42,198,798 V278I probably benign Het
Sidt1 A G 16: 44,281,871 S309P possibly damaging Het
Slc22a6 A C 19: 8,621,882 Q292H probably benign Het
Slc4a3 G A 1: 75,553,723 R690H probably damaging Het
Snx7 A T 3: 117,829,668 probably null Het
Spag6 T A 2: 18,715,805 Y129* probably null Het
Srcap T C 7: 127,534,822 I905T probably damaging Het
St6gal1 T G 16: 23,321,633 S185A probably damaging Het
Sult6b1 G A 17: 78,888,964 H250Y possibly damaging Het
Tdrd6 T G 17: 43,627,088 N1023T probably benign Het
Tecta C T 9: 42,337,936 E1877K probably damaging Het
Tex10 C T 4: 48,456,800 R637Q probably benign Het
Tex14 T A 11: 87,495,035 D240E probably damaging Het
Tex47 T C 5: 7,305,022 Y68H probably damaging Het
Thbs2 A G 17: 14,689,842 V165A probably benign Het
Tmem126b T A 7: 90,469,159 Y171F possibly damaging Het
Tpsg1 G T 17: 25,373,400 M46I probably benign Het
Trmt2a A G 16: 18,251,206 K304R probably benign Het
Ttc28 G T 5: 111,280,750 R1845L possibly damaging Het
Umodl1 A T 17: 30,992,154 T884S possibly damaging Het
Vmn2r77 A G 7: 86,811,793 K776E probably damaging Het
Vmn2r88 T C 14: 51,418,214 S627P probably damaging Het
Vrk1 T C 12: 106,057,977 probably null Het
Zfp644 A G 5: 106,635,271 M1079T possibly damaging Het
Znrf1 T C 8: 111,621,601 *41Q probably null Het
Znrf1 T C 8: 111,621,612 F183L possibly damaging 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
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
R7240:Mfap3 UTSW 11 57529756 missense probably damaging 1.00
R7423:Mfap3 UTSW 11 57529503 missense probably damaging 1.00
Z1088:Mfap3 UTSW 11 57528142 missense possibly damaging 0.82
Z1186:Mfap3 UTSW 11 57528040 missense possibly damaging 0.87
Z1186:Mfap3 UTSW 11 57528076 missense probably benign
Z1187:Mfap3 UTSW 11 57528040 missense possibly damaging 0.87
Z1187:Mfap3 UTSW 11 57528076 missense probably benign
Z1188:Mfap3 UTSW 11 57528040 missense possibly damaging 0.87
Z1188:Mfap3 UTSW 11 57528076 missense probably benign
Z1189:Mfap3 UTSW 11 57528040 missense possibly damaging 0.87
Z1189:Mfap3 UTSW 11 57528076 missense probably benign
Z1190:Mfap3 UTSW 11 57528040 missense possibly damaging 0.87
Z1190:Mfap3 UTSW 11 57528076 missense probably benign
Z1191:Mfap3 UTSW 11 57528040 missense possibly damaging 0.87
Z1191:Mfap3 UTSW 11 57528076 missense probably benign
Z1192:Mfap3 UTSW 11 57528040 missense possibly damaging 0.87
Z1192:Mfap3 UTSW 11 57528076 missense probably benign
Predicted Primers PCR Primer
(F):5'- GATGACCGTGGGCTCTATAC -3'
(R):5'- GCCCGGCAGTTCAGAATAAG -3'

Sequencing Primer
(F):5'- ATGACCGTGGGCTCTATACATGTATC -3'
(R):5'- GCAGTTCAGAATAAGGGGCG -3'
Posted On2014-06-30