Incidental Mutation 'IGL02951:Fam205a1'
ID365987
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam205a1
Ensembl Gene ENSMUSG00000078721
Gene Namefamily with sequence similarity 205, member A1
SynonymsGm12429
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock #IGL02951
Quality Score
Status
Chromosome4
Chromosomal Location42848071-42853888 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 42850696 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 487 (E487K)
Ref Sequence ENSEMBL: ENSMUSP00000103613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068158] [ENSMUST00000107979] [ENSMUST00000107981] [ENSMUST00000107984]
Predicted Effect probably benign
Transcript: ENSMUST00000068158
SMART Domains Protein: ENSMUSP00000068585
Gene: ENSMUSG00000054885

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 72 88 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107979
AA Change: E487K

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000103613
Gene: ENSMUSG00000078721
AA Change: E487K

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:DUF4599 52 137 5e-26 PFAM
low complexity region 169 179 N/A INTRINSIC
internal_repeat_1 278 314 8.5e-5 PROSPERO
Pfam:FAM75 409 493 4.3e-10 PFAM
Pfam:FAM75 453 628 1.2e-12 PFAM
low complexity region 1160 1172 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107981
SMART Domains Protein: ENSMUSP00000103615
Gene: ENSMUSG00000078722

DomainStartEndE-ValueType
Pfam:DUF4599 1 56 1.4e-15 PFAM
low complexity region 87 104 N/A INTRINSIC
Pfam:FAM75 157 279 9.4e-9 PFAM
Pfam:FAM75 322 366 6.1e-10 PFAM
Pfam:FAM75 365 543 8.3e-11 PFAM
low complexity region 882 895 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107984
SMART Domains Protein: ENSMUSP00000103618
Gene: ENSMUSG00000054885

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 72 88 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik C A 10: 76,454,702 probably benign Het
Acot10 G A 15: 20,665,782 T291I probably benign Het
Atp13a3 A G 16: 30,338,621 probably null Het
Atp2a1 C T 7: 126,450,227 V548M possibly damaging Het
Bsn G A 9: 108,115,613 S980L probably damaging Het
Ccdc158 A G 5: 92,650,006 M425T probably damaging Het
Cdh23 A G 10: 60,311,364 L2733S probably damaging Het
Chd3 C T 11: 69,361,048 probably null Het
Dock2 T C 11: 34,310,448 probably benign Het
Elfn2 T C 15: 78,671,882 K822E probably damaging Het
Eps15l1 G A 8: 72,358,396 S764L probably benign Het
Etl4 C A 2: 20,801,537 probably benign Het
Faap24 C A 7: 35,392,951 K180N probably damaging Het
Fhod1 G A 8: 105,331,230 R888W probably damaging Het
Fus T C 7: 127,981,837 probably benign Het
Gm3453 T C 14: 5,976,168 E201G possibly damaging Het
Gm5346 T G 8: 43,627,088 H33P possibly damaging Het
Gnpat G T 8: 124,870,905 D69Y probably benign Het
Gpaa1 T A 15: 76,332,819 probably benign Het
Gsta1 A T 9: 78,242,537 K211* probably null Het
Lct G T 1: 128,300,211 Q1182K probably damaging Het
Mroh1 T C 15: 76,427,636 L523P probably damaging Het
Mrpl46 A G 7: 78,775,452 probably benign Het
Mst1r G T 9: 107,908,204 V354F possibly damaging Het
Myo15b A G 11: 115,881,301 D299G probably damaging Het
Myo6 G A 9: 80,264,234 V506I possibly damaging Het
Nadk A C 4: 155,587,476 K271Q probably benign Het
Nbas A G 12: 13,362,541 R954G probably benign Het
Nbr1 T A 11: 101,571,979 probably null Het
Nup88 T C 11: 70,944,872 D587G possibly damaging Het
Oas1a A T 5: 120,905,664 F135Y probably damaging Het
Obscn A G 11: 58,994,513 probably benign Het
Odf3l2 T C 10: 79,639,977 N251S probably benign Het
Olfr1290 T G 2: 111,490,120 I13L probably benign Het
Parp14 G A 16: 35,858,533 T355I probably benign Het
Pdgfd G T 9: 6,288,494 L43F probably damaging Het
Pou5f2 T C 13: 78,025,118 S60P probably benign Het
Prp2 A G 6: 132,599,825 N25S unknown Het
Ptprq A T 10: 107,667,460 F779Y probably benign Het
Rims2 C T 15: 39,534,938 R1078C probably damaging Het
Rnf38 G T 4: 44,129,619 S425* probably null Het
Rps21 T A 2: 180,258,047 I59N probably damaging Het
Scn5a A T 9: 119,495,685 F1359Y probably damaging Het
Slc35b2 A G 17: 45,564,768 E67G probably damaging Het
Slc37a2 A G 9: 37,255,315 F15L probably benign Het
Snapc4 A C 2: 26,370,835 N465K probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Taco1 A G 11: 106,069,527 N98S probably benign Het
Tcea3 T C 4: 136,257,988 probably null Het
Thada T C 17: 84,444,028 S507G probably benign Het
Tmem132b T A 5: 125,787,547 C906S probably damaging Het
Trpm2 A T 10: 77,929,278 I963N possibly damaging Het
Usp10 A G 8: 119,947,086 T397A probably benign Het
Usp3 G A 9: 66,542,550 R160* probably null Het
Utp15 T C 13: 98,257,952 Y144C probably damaging Het
Xpc G A 6: 91,506,849 R172W probably damaging Het
Other mutations in Fam205a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01307:Fam205a1 APN 4 42850963 missense probably benign 0.04
IGL01369:Fam205a1 APN 4 42852548 splice site probably null
IGL02737:Fam205a1 APN 4 42849431 missense possibly damaging 0.90
IGL03190:Fam205a1 APN 4 42848362 missense probably benign 0.20
IGL03407:Fam205a1 APN 4 42850528 missense probably benign 0.00
R0285:Fam205a1 UTSW 4 42850236 missense probably benign 0.00
R0345:Fam205a1 UTSW 4 42851116 missense probably benign 0.00
R0373:Fam205a1 UTSW 4 42851161 missense probably benign 0.00
R0763:Fam205a1 UTSW 4 42851238 missense probably damaging 1.00
R1668:Fam205a1 UTSW 4 42848424 missense probably damaging 0.99
R2406:Fam205a1 UTSW 4 42851696 missense probably benign
R3722:Fam205a1 UTSW 4 42851472 missense probably benign 0.01
R4820:Fam205a1 UTSW 4 42851815 missense probably damaging 1.00
R5168:Fam205a1 UTSW 4 42851488 missense probably damaging 0.99
R6170:Fam205a1 UTSW 4 42849345 missense probably benign 0.00
R6249:Fam205a1 UTSW 4 42850528 missense probably benign 0.00
R6357:Fam205a1 UTSW 4 42850393 missense probably damaging 1.00
R6496:Fam205a1 UTSW 4 42848424 missense probably damaging 0.99
R6894:Fam205a1 UTSW 4 42850291 missense probably benign 0.33
R7079:Fam205a1 UTSW 4 42851718 missense probably benign 0.17
R7881:Fam205a1 UTSW 4 42851586 missense probably benign 0.00
R7904:Fam205a1 UTSW 4 42850765 missense possibly damaging 0.53
R7938:Fam205a1 UTSW 4 42850765 missense possibly damaging 0.53
R8017:Fam205a1 UTSW 4 42850840 missense probably damaging 1.00
R8210:Fam205a1 UTSW 4 42848542 missense probably benign 0.00
R8385:Fam205a1 UTSW 4 42850509 missense possibly damaging 0.80
R8894:Fam205a1 UTSW 4 42853688 missense possibly damaging 0.87
Posted On2015-12-18