Incidental Mutation 'R7223:Mfap3'
ID561960
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: 0.110) question?
Stock #R7223 (G1)
Quality Score225.009
Status Not validated
Chromosome11
Chromosomal Location57518664-57533815 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 57530240 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 349 (I349K)
Ref Sequence ENSEMBL: ENSMUSP00000020830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020830] [ENSMUST00000108848] [ENSMUST00000108849]
Predicted Effect probably benign
Transcript: ENSMUST00000020830
AA Change: I349K

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000020830
Gene: ENSMUSG00000020522
AA Change: I349K

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 benign
Transcript: ENSMUST00000108849
AA Change: I349K

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000104477
Gene: ENSMUSG00000020522
AA Change: I349K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,274,143 V733E probably benign Het
Adam34 A T 8: 43,652,004 N201K probably benign Het
Aldh3b2 A C 19: 3,979,592 S322R probably damaging Het
Anpep A T 7: 79,825,310 L914Q probably damaging Het
Arhgap30 T C 1: 171,407,571 F535S probably damaging Het
Baiap3 G A 17: 25,243,840 R1075C probably benign Het
Baz2a G T 10: 128,112,606 G252V probably damaging Het
Brinp3 T A 1: 146,901,074 S420T possibly damaging Het
Carmil3 T C 14: 55,496,238 F359S possibly damaging Het
Ccdc124 A T 8: 70,868,526 L190Q probably damaging Het
Ccr6 T C 17: 8,256,140 V59A probably damaging Het
Ccr8 T A 9: 120,094,617 I266N probably damaging Het
Cdh23 T A 10: 60,331,817 E1798V probably damaging Het
Cdk5rap2 T C 4: 70,235,447 N1713S probably benign Het
Cep19 T A 16: 32,104,015 I33N probably damaging Het
Cers3 A T 7: 66,783,415 Y196F probably damaging Het
Cidea T C 18: 67,366,421 I126T probably damaging Het
Copg2 A T 6: 30,812,754 Y546* probably null Het
Cul3 A T 1: 80,287,000 V261E probably benign Het
Cyp2g1 A T 7: 26,814,632 D221V probably damaging Het
Cyp8b1 G A 9: 121,915,097 H390Y probably damaging Het
Daam1 T C 12: 71,988,943 F971L probably damaging Het
Dnajc24 G A 2: 106,001,966 S24L possibly damaging Het
Dpysl3 T C 18: 43,438,042 S56G probably benign Het
Esp1 A G 17: 40,731,081 D88G probably benign Het
Fam171b A G 2: 83,878,230 T359A probably damaging Het
Fam186b T C 15: 99,279,837 E536G possibly damaging Het
Fbxo3 T C 2: 104,043,012 V156A possibly damaging Het
Gls2 C A 10: 128,199,194 H65Q probably benign Het
Gp2 A G 7: 119,451,498 probably null Het
Gpcpd1 T A 2: 132,534,056 K435I probably benign Het
Gpx6 T A 13: 21,317,670 probably null Het
Hps3 A T 3: 20,030,419 S202T probably benign Het
Htr1d T A 4: 136,443,501 L347H probably damaging Het
Igfals T C 17: 24,881,234 L433P probably damaging Het
Ilvbl C T 10: 78,583,696 H537Y probably benign Het
Iqgap2 A T 13: 95,628,972 M1530K probably damaging Het
Jarid2 A G 13: 44,896,322 T247A possibly damaging Het
L3hypdh C T 12: 72,074,009 V323I possibly damaging Het
Lama3 C T 18: 12,582,608 T1707I possibly damaging Het
Map6 G T 7: 99,268,025 A2S probably damaging Het
Mybl2 A G 2: 163,072,705 T248A probably benign Het
N6amt1 A G 16: 87,362,660 *151W probably null Het
Nhlrc1 A G 13: 47,014,208 V191A probably benign Het
Nkx2-5 T C 17: 26,839,620 E120G possibly damaging Het
Olfr1066 T A 2: 86,455,867 I135F possibly damaging Het
Olfr1380 T A 11: 49,564,098 M59K probably damaging Het
Olfr582 C A 7: 103,041,632 T46N possibly damaging Het
Olfr890 T C 9: 38,143,753 V201A probably benign Het
Pcdha8 T G 18: 36,993,148 L228V probably benign Het
Pcsk2 A G 2: 143,690,333 T134A possibly damaging Het
Phldb3 G A 7: 24,624,653 R484Q probably benign Het
Pipox A G 11: 77,881,186 S371P probably damaging Het
Plekhg1 T C 10: 3,873,343 S159P Het
Psme4 C T 11: 30,874,226 P1737S probably benign Het
Pygm G A 19: 6,388,863 D328N probably benign Het
Rabgef1 A T 5: 130,190,960 E88V probably benign Het
Rims2 G T 15: 39,437,032 R245L probably benign Het
Slc38a4 T C 15: 97,010,345 I172V probably damaging Het
Slc4a10 T A 2: 62,268,665 Y586N probably damaging Het
Snap91 C T 9: 86,879,557 probably benign Het
Sorcs1 C T 19: 50,190,042 V881I probably benign Het
Spef2 A T 15: 9,601,640 V1512E unknown Het
Sufu T C 19: 46,453,277 I292T possibly damaging Het
Tet1 T C 10: 62,813,671 N87D possibly damaging Het
Tmem108 T C 9: 103,499,534 T239A not run Het
Tmem121 A T 12: 113,188,494 K111* probably null Het
Tpp2 T A 1: 43,968,888 D417E probably damaging Het
Tpr G A 1: 150,439,256 E2025K possibly damaging Het
Trappc3 C T 4: 126,275,152 A145V possibly damaging Het
Ttn T C 2: 76,890,981 D6754G probably null Het
Unc13c T A 9: 73,629,191 M1627L probably benign Het
Ush2a A G 1: 188,810,217 I3327V probably benign Het
Vmn1r74 C T 7: 11,846,967 Q65* probably null Het
Wdr18 G A 10: 79,960,368 R69H probably damaging Het
Zbed5 G T 5: 129,900,438 D132Y probably damaging Het
Zfp644 A T 5: 106,637,582 Y366* probably null Het
Zfyve26 T C 12: 79,246,171 N2068S probably damaging Het
Zic2 T C 14: 122,476,091 F139S probably damaging Het
Zmynd11 T C 13: 9,710,162 Q141R probably benign Het
Zrsr1 A G 11: 22,973,388 E54G probably benign Het
Zscan10 G A 17: 23,609,482 D333N 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
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
Predicted Primers PCR Primer
(F):5'- CGCTCAAAGTGGCATCTATGTG -3'
(R):5'- TCACTCCAGCAACCTTAAGG -3'

Sequencing Primer
(F):5'- CTATGTGATTAACCCAGAGCTAGGC -3'
(R):5'- CTCCAGCAACCTTAAGGAAAATG -3'
Posted On2019-06-26