Incidental Mutation 'R5867:Fam43a'
ID454247
Institutional Source Beutler Lab
Gene Symbol Fam43a
Ensembl Gene ENSMUSG00000046546
Gene Namefamily with sequence similarity 43, member A
Synonyms
MMRRC Submission 043233-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.173) question?
Stock #R5867 (G1)
Quality Score169
Status Not validated
Chromosome16
Chromosomal Location30599723-30602797 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 30601459 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 287 (V287E)
Ref Sequence ENSEMBL: ENSMUSP00000056555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059078]
Predicted Effect probably benign
Transcript: ENSMUST00000059078
AA Change: V287E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000056555
Gene: ENSMUSG00000046546
AA Change: V287E

DomainStartEndE-ValueType
Pfam:PID_2 69 256 3e-79 PFAM
low complexity region 329 345 N/A INTRINSIC
low complexity region 382 399 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 9,010,052 V2900A probably damaging Het
Akip1 A G 7: 109,707,477 H127R probably benign Het
Alad A T 4: 62,512,966 Y56N probably damaging Het
Aldoart1 T A 4: 72,852,533 M13L probably benign Het
Ap1g1 C T 8: 109,818,982 A89V probably damaging Het
Ascc3 C T 10: 50,842,183 R1991* probably null Het
Cd209b T C 8: 3,924,246 I89V possibly damaging Het
Cd36 T C 5: 17,785,735 K469R probably benign Het
Cdh7 T A 1: 110,048,851 I82N probably damaging Het
Clmn G T 12: 104,781,755 P511H probably damaging Het
Cyfip1 A C 7: 55,926,313 D1077A probably damaging Het
Cyp2a5 T C 7: 26,842,958 F462L probably benign Het
Dclk2 A G 3: 86,791,859 *709Q probably null Het
Drd1 T C 13: 54,054,163 T4A probably benign Het
Ephb2 C T 4: 136,675,422 V513I possibly damaging Het
Gm5134 A G 10: 76,008,616 E602G probably benign Het
Gtsf2 C T 15: 103,439,636 G149E probably benign Het
Kif20a G A 18: 34,632,415 A822T probably benign Het
Klhl6 T C 16: 19,982,820 T62A probably benign Het
Lamb1 T A 12: 31,298,955 I662N possibly damaging Het
Lmod3 A G 6: 97,248,002 V286A probably damaging Het
Mefv T C 16: 3,715,933 D158G probably damaging Het
Mff T C 1: 82,750,606 probably null Het
Mfsd6l G T 11: 68,557,210 V296L possibly damaging Het
Neu2 G T 1: 87,596,756 Q154H probably damaging Het
Olfr1033 A G 2: 86,041,451 I45M probably benign Het
Pdk4 T A 6: 5,487,452 H266L probably benign Het
Pdrg1 T C 2: 153,014,055 N40D probably damaging Het
Pi4k2a T C 19: 42,105,485 probably null Het
Pkd1l2 T A 8: 117,055,011 D765V probably damaging Het
Pspc1 A T 14: 56,762,041 probably null Het
Ptprm T C 17: 67,045,981 probably null Het
Spata31d1d T C 13: 59,727,240 K827R possibly damaging Het
Srebf2 T A 15: 82,169,786 F46Y probably damaging Het
Tfrc T A 16: 32,620,412 C365S possibly damaging Het
Ttc7 A G 17: 87,322,472 H294R possibly damaging Het
Ubr7 T A 12: 102,761,494 Y92N probably damaging Het
Vmn1r42 A C 6: 89,844,779 Y269* probably null Het
Vmn2r1 A G 3: 64,104,569 E617G probably benign Het
Vps13c A G 9: 67,982,622 probably null Het
Vps50 T C 6: 3,536,965 L312P probably damaging Het
Wdr82 A G 9: 106,185,304 Q252R probably benign Het
Zcchc3 A G 2: 152,414,524 F85S probably damaging Het
Zfhx3 T C 8: 108,793,446 L400P probably damaging Het
Other mutations in Fam43a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01994:Fam43a APN 16 30600663 missense probably damaging 0.97
IGL02525:Fam43a APN 16 30600778 missense probably benign 0.09
IGL02970:Fam43a APN 16 30601104 missense probably damaging 1.00
IGL03027:Fam43a APN 16 30601104 missense probably damaging 1.00
R0512:Fam43a UTSW 16 30601735 missense possibly damaging 0.94
R2996:Fam43a UTSW 16 30601020 missense possibly damaging 0.81
R3747:Fam43a UTSW 16 30601846 missense probably benign 0.05
R5614:Fam43a UTSW 16 30601672 missense possibly damaging 0.95
R8052:Fam43a UTSW 16 30601804 missense probably benign 0.02
R8199:Fam43a UTSW 16 30600768 nonsense probably null
R8282:Fam43a UTSW 16 30601288 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTAAACGTCTCAAGCGGCG -3'
(R):5'- ACAGAGGAAGTGATGTCCCC -3'

Sequencing Primer
(F):5'- TCACCAGCAGCAGGAGTTG -3'
(R):5'- AAGTGATGTCCCCGAGCTG -3'
Posted On2017-02-10