Incidental Mutation 'R8248:Mfap1a'
ID640359
Institutional Source Beutler Lab
Gene Symbol Mfap1a
Ensembl Gene ENSMUSG00000068479
Gene Namemicrofibrillar-associated protein 1A
Synonyms4432409M24Rik, Mfap1
Accession Numbers
Is this an essential gene? Not available question?
Stock #R8248 (G1)
Quality Score225.009
Status Not validated
Chromosome2
Chromosomal Location121491911-121506665 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 121506495 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 16 (T16K)
Ref Sequence ENSEMBL: ENSMUSP00000087372 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028676] [ENSMUST00000089926] [ENSMUST00000099473] [ENSMUST00000110602] [ENSMUST00000110603]
Predicted Effect probably benign
Transcript: ENSMUST00000028676
SMART Domains Protein: ENSMUSP00000028676
Gene: ENSMUSG00000027242

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
low complexity region 40 49 N/A INTRINSIC
low complexity region 93 109 N/A INTRINSIC
low complexity region 137 154 N/A INTRINSIC
WD40 205 244 8.59e-1 SMART
WD40 249 289 1.63e-4 SMART
WD40 292 331 1.98e1 SMART
WD40 336 375 4.75e1 SMART
WD40 383 423 9.24e-4 SMART
low complexity region 424 435 N/A INTRINSIC
WD40 479 520 2.28e2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000089926
AA Change: T16K

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000087372
Gene: ENSMUSG00000068479
AA Change: T16K

DomainStartEndE-ValueType
low complexity region 51 59 N/A INTRINSIC
low complexity region 64 84 N/A INTRINSIC
low complexity region 108 123 N/A INTRINSIC
coiled coil region 134 150 N/A INTRINSIC
Pfam:MFAP1 190 399 1.6e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099473
SMART Domains Protein: ENSMUSP00000097072
Gene: ENSMUSG00000027242

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
low complexity region 40 49 N/A INTRINSIC
low complexity region 109 125 N/A INTRINSIC
low complexity region 153 170 N/A INTRINSIC
WD40 221 260 8.59e-1 SMART
WD40 265 305 1.63e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110602
SMART Domains Protein: ENSMUSP00000106232
Gene: ENSMUSG00000027242

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
low complexity region 40 49 N/A INTRINSIC
low complexity region 93 109 N/A INTRINSIC
low complexity region 137 154 N/A INTRINSIC
WD40 205 244 8.59e-1 SMART
WD40 249 289 1.63e-4 SMART
WD40 292 331 1.98e1 SMART
WD40 336 375 4.75e1 SMART
WD40 383 423 9.24e-4 SMART
low complexity region 424 435 N/A INTRINSIC
WD40 479 520 2.28e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110603
SMART Domains Protein: ENSMUSP00000106234
Gene: ENSMUSG00000027242

DomainStartEndE-ValueType
low complexity region 56 94 N/A INTRINSIC
low complexity region 97 114 N/A INTRINSIC
low complexity region 138 147 N/A INTRINSIC
low complexity region 191 207 N/A INTRINSIC
low complexity region 235 252 N/A INTRINSIC
WD40 303 342 8.59e-1 SMART
WD40 347 387 1.63e-4 SMART
WD40 390 429 1.98e1 SMART
WD40 434 473 4.75e1 SMART
WD40 481 521 9.24e-4 SMART
low complexity region 522 533 N/A INTRINSIC
WD40 577 618 2.28e2 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930003A15Rik T C 16: 19,883,806 D24G noncoding transcript Het
Adam32 A G 8: 24,901,470 S343P possibly damaging Het
Agbl2 G A 2: 90,797,564 G238R probably damaging Het
Ahi1 T A 10: 20,972,092 D466E probably benign Het
Ahnak T A 19: 9,001,946 V198E probably damaging Het
Ank2 T A 3: 126,937,785 H658L possibly damaging Het
Atp2b4 TTCTTC TTCTTCGTCTTC 1: 133,701,718 probably benign Het
Atp2b4 TCTTCT TCTTCTCCTTCT 1: 133,701,743 probably benign Het
Atp8b5 T A 4: 43,366,072 I781N probably damaging Het
Bloc1s6 A T 2: 122,742,645 R47* probably null Het
Clk2 G A 3: 89,173,504 V266M probably damaging Het
Cul9 A C 17: 46,530,014 Y777D probably damaging Het
Dcp1a A G 14: 30,522,926 T570A possibly damaging Het
Dcp1a C T 14: 30,479,598 probably benign Het
Dnajb2 T G 1: 75,243,582 D248E Het
Dpy19l1 T C 9: 24,502,895 H79R probably benign Het
Elmo1 T C 13: 20,600,201 S643P probably damaging Het
Evi5 A G 5: 107,818,887 probably null Het
Fam76b T C 9: 13,831,102 C110R probably damaging Het
Galnt7 T A 8: 57,538,188 K429N probably benign Het
Gm10142 T A 10: 77,716,116 C104S probably damaging Het
Gm7298 A C 6: 121,787,443 H1427P probably benign Het
Golga7b A T 19: 42,266,871 I87F probably damaging Het
Gpr165 C A X: 96,714,017 D7E probably benign Het
Gpr25 C A 1: 136,260,677 R66L probably benign Het
H2-Q2 A G 17: 35,344,865 N241D probably benign Het
Il1a T C 2: 129,302,961 D179G probably benign Het
Itch T C 2: 155,206,383 probably null Het
Itsn2 T C 12: 4,662,052 V913A probably benign Het
Lama4 T C 10: 39,061,379 I655T possibly damaging Het
Lats1 T A 10: 7,705,903 S817R probably damaging Het
Lrrc8c A T 5: 105,607,867 M503L probably benign Het
Mast4 T C 13: 102,738,721 T1380A probably damaging Het
Mroh2b C T 15: 4,931,104 T773I probably benign Het
Myl10 G C 5: 136,697,971 V70L probably benign Het
Nudt7 A G 8: 114,151,997 Y255C probably benign Het
Pfas T C 11: 69,000,263 T310A probably damaging Het
Pkhd1l1 T G 15: 44,543,546 I2393R probably damaging Het
Pmm1 A C 15: 81,960,731 L24R possibly damaging Het
Pram1 T C 17: 33,641,164 V235A probably benign Het
Prg4 T C 1: 150,455,126 T599A unknown Het
Prpf40b A G 15: 99,316,285 K812E unknown Het
Qars G A 9: 108,509,452 A155T probably benign Het
Rftn1 G T 17: 50,047,380 A318D probably damaging Het
Rom1 T A 19: 8,928,681 R165W probably damaging Het
Ryr1 A T 7: 29,069,121 W2808R probably damaging Het
Sh3gl1 A G 17: 56,019,038 probably null Het
Slc22a30 A T 19: 8,370,199 M279K probably benign Het
Snx11 A G 11: 96,769,933 S184P unknown Het
Srgap1 A G 10: 121,804,817 C692R probably damaging Het
Srgap3 T C 6: 112,723,143 N982S probably damaging Het
Stac T A 9: 111,593,745 D270V probably benign Het
Syn3 T A 10: 86,135,021 I246F probably benign Het
Tnr T C 1: 159,892,093 V980A probably damaging Het
Usp17le G T 7: 104,769,794 A47E possibly damaging Het
Vmn2r118 T C 17: 55,610,936 N192S probably benign Het
Zmym4 C A 4: 126,905,369 V725L possibly damaging Het
Other mutations in Mfap1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1470:Mfap1a UTSW 2 121502801 missense probably benign 0.30
R1470:Mfap1a UTSW 2 121502801 missense probably benign 0.30
R1938:Mfap1a UTSW 2 121502354 missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- ATCAGGTAGATGCAAGTGGATCC -3'
(R):5'- CCCTACCGGAAGTTGTTTCTG -3'

Sequencing Primer
(F):5'- TAGATGCAAGTGGATCCCGCTATC -3'
(R):5'- CTACCGGAAGTTGTTTCTGTCAGTTG -3'
Posted On2020-07-28