Incidental Mutation 'IGL02970:Fam43a'
ID365780
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam43a
Ensembl Gene ENSMUSG00000046546
Gene Namefamily with sequence similarity 43, member A
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.137) question?
Stock #IGL02970
Quality Score
Status
Chromosome16
Chromosomal Location30599723-30602797 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 30601104 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 169 (R169C)
Ref Sequence ENSEMBL: ENSMUSP00000056555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059078]
Predicted Effect probably damaging
Transcript: ENSMUST00000059078
AA Change: R169C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056555
Gene: ENSMUSG00000046546
AA Change: R169C

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik C T 1: 53,187,589 G5S probably damaging Het
A2ml1 A T 6: 128,569,979 F396I probably damaging Het
BC051019 T A 7: 109,716,055 N331I probably benign Het
Crocc G A 4: 141,030,246 S912L possibly damaging Het
Dcaf4 A G 12: 83,529,215 D46G probably damaging Het
Dido1 C T 2: 180,689,415 R80Q probably damaging Het
Dnase2b A G 3: 146,582,506 V278A probably damaging Het
Drosha C T 15: 12,913,956 L1106F probably damaging Het
Dsc3 C A 18: 19,968,260 W692L probably damaging Het
F2 T A 2: 91,625,551 Y579F possibly damaging Het
Fam126b T C 1: 58,539,617 E258G probably damaging Het
Gm9772 A G 17: 22,006,559 F120S probably damaging Het
Gsdma3 T C 11: 98,632,993 S251P probably benign Het
Itgam G A 7: 128,086,043 E443K probably benign Het
Kif18a T C 2: 109,287,888 V16A probably damaging Het
Lrrn3 T G 12: 41,452,360 S653R probably benign Het
Map1b A T 13: 99,430,734 Y1826* probably null Het
Mbnl1 T C 3: 60,613,423 F139S probably damaging Het
Micu3 T C 8: 40,382,130 Y509H possibly damaging Het
Ncmap T C 4: 135,377,018 T17A probably damaging Het
Oas1h T A 5: 120,861,635 M61K possibly damaging Het
Otog T A 7: 46,295,867 W2183R probably benign Het
Pcdh15 T C 10: 74,290,962 probably benign Het
Plekho1 C T 3: 95,990,902 V150I probably damaging Het
Ppargc1b A G 18: 61,298,766 S1004P probably damaging Het
Prf1 T C 10: 61,300,178 S78P probably benign Het
Prss12 A G 3: 123,482,762 S347G probably benign Het
Rai1 T C 11: 60,185,733 S208P probably damaging Het
Sgms1 A G 19: 32,159,765 Y134H probably damaging Het
Sult2a4 A G 7: 13,909,906 probably benign Het
T C T 17: 8,435,385 A134V probably damaging Het
Thoc5 A G 11: 4,904,201 T187A probably damaging Het
Ticrr A G 7: 79,695,171 S1595G probably benign Het
Tiprl A G 1: 165,236,746 S30P probably damaging Het
Ttl T C 2: 129,076,070 S151P probably damaging Het
Ttn T A 2: 76,752,990 T22520S probably damaging Het
Usp54 G A 14: 20,577,472 S420L probably damaging Het
Vmn1r62 T A 7: 5,675,568 Y83N possibly 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
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
R5867:Fam43a UTSW 16 30601459 missense probably benign
R8052:Fam43a UTSW 16 30601804 missense probably benign 0.02
Posted On2015-12-18