Incidental Mutation 'IGL03278:Fam160a2'
ID415488
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam160a2
Ensembl Gene ENSMUSG00000044465
Gene Namefamily with sequence similarity 160, member A2
Synonyms4632419K20Rik, 6530415H11Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03278
Quality Score
Status
Chromosome7
Chromosomal Location105371211-105400054 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 105385124 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 433 (M433I)
Ref Sequence ENSEMBL: ENSMUSP00000112711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048079] [ENSMUST00000074686] [ENSMUST00000118726] [ENSMUST00000122327] [ENSMUST00000137158] [ENSMUST00000179474] [ENSMUST00000210448] [ENSMUST00000211549]
Predicted Effect possibly damaging
Transcript: ENSMUST00000048079
AA Change: M433I

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045084
Gene: ENSMUSG00000044465
AA Change: M433I

DomainStartEndE-ValueType
Pfam:RAI16-like 96 426 2.8e-99 PFAM
low complexity region 482 501 N/A INTRINSIC
low complexity region 527 544 N/A INTRINSIC
low complexity region 697 710 N/A INTRINSIC
low complexity region 718 730 N/A INTRINSIC
low complexity region 891 906 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000074686
AA Change: M433I

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000074252
Gene: ENSMUSG00000044465
AA Change: M433I

DomainStartEndE-ValueType
Pfam:RAI16-like 96 426 4.4e-100 PFAM
low complexity region 482 501 N/A INTRINSIC
low complexity region 527 544 N/A INTRINSIC
low complexity region 697 710 N/A INTRINSIC
low complexity region 718 730 N/A INTRINSIC
low complexity region 825 840 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000118726
AA Change: M433I

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112605
Gene: ENSMUSG00000044465
AA Change: M433I

DomainStartEndE-ValueType
Pfam:RAI16-like 96 426 1.8e-99 PFAM
low complexity region 496 515 N/A INTRINSIC
low complexity region 541 558 N/A INTRINSIC
low complexity region 707 722 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000122327
AA Change: M433I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112711
Gene: ENSMUSG00000044465
AA Change: M433I

DomainStartEndE-ValueType
Pfam:RAI16-like 96 426 5.6e-98 PFAM
low complexity region 482 501 N/A INTRINSIC
low complexity region 527 544 N/A INTRINSIC
low complexity region 697 710 N/A INTRINSIC
low complexity region 718 730 N/A INTRINSIC
low complexity region 891 906 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136298
Predicted Effect probably benign
Transcript: ENSMUST00000137158
SMART Domains Protein: ENSMUSP00000119184
Gene: ENSMUSG00000044465

DomainStartEndE-ValueType
Pfam:RAI16-like 96 259 7.2e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142559
Predicted Effect possibly damaging
Transcript: ENSMUST00000179474
AA Change: M433I

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137163
Gene: ENSMUSG00000044465
AA Change: M433I

DomainStartEndE-ValueType
Pfam:RAI16-like 96 426 4.2e-98 PFAM
low complexity region 496 515 N/A INTRINSIC
low complexity region 541 558 N/A INTRINSIC
low complexity region 711 724 N/A INTRINSIC
low complexity region 732 744 N/A INTRINSIC
low complexity region 905 920 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000210448
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210972
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211013
Predicted Effect probably benign
Transcript: ENSMUST00000211549
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the FTS/Hook/FHIP (FHF) complex, which can interact with members of the homotypic vesicular protein sorting (HOPS) complex. This interaction suggests that the encoded protein is involved in vesicle trafficking. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,158,825 probably benign Het
Acss2 A G 2: 155,562,001 D676G possibly damaging Het
Antxr1 A G 6: 87,204,457 probably benign Het
Ccdc134 C T 15: 82,131,481 A54V possibly damaging Het
Ccdc40 A T 11: 119,242,510 I465F probably damaging Het
Cdk5rap1 A T 2: 154,370,702 S79T probably benign Het
Col6a6 T C 9: 105,709,452 E1790G probably benign Het
Cops8 C A 1: 90,604,365 probably null Het
Dnah7a T C 1: 53,496,965 T2640A probably benign Het
F2 G A 2: 91,635,182 A86V probably benign Het
Gabrb1 T G 5: 71,869,596 D113E probably damaging Het
Git2 C A 5: 114,745,579 probably benign Het
Git2 A T 5: 114,745,580 probably null Het
Gm4847 A T 1: 166,635,036 I295N probably benign Het
H2-M10.6 C A 17: 36,813,823 H211N probably damaging Het
Hmgcr A G 13: 96,656,762 probably benign Het
Larp1 T C 11: 58,044,056 probably benign Het
Lrguk A G 6: 34,116,446 E634G possibly damaging Het
Nanog A G 6: 122,711,745 Y95C probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nfe2l1 C A 11: 96,822,192 R55L probably benign Het
Olfr161 C T 16: 3,593,107 A237V possibly damaging Het
Pkmyt1 A G 17: 23,734,247 E259G probably damaging Het
Pld4 A G 12: 112,766,731 N247S probably damaging Het
Prdm4 A T 10: 85,907,758 M211K probably damaging Het
Rab37 A C 11: 115,159,691 I121L possibly damaging Het
Rabl6 T C 2: 25,583,822 probably benign Het
Slc34a3 A T 2: 25,232,047 V154E probably benign Het
Slc38a9 T G 13: 112,689,518 probably benign Het
Sptlc3 G A 2: 139,589,659 G367D probably damaging Het
Stk24 T C 14: 121,302,770 K139R possibly damaging Het
Tacc2 T C 7: 130,733,568 probably null Het
Tap1 A T 17: 34,191,483 K378M probably damaging Het
Tfr2 A T 5: 137,571,036 R10* probably null Het
Trim38 A G 13: 23,790,996 D306G possibly damaging Het
Ttc6 A T 12: 57,622,026 K418I probably damaging Het
Ush2a T A 1: 188,849,116 L3731Q probably damaging Het
Vmn2r89 A T 14: 51,455,100 Y120F probably damaging Het
Vps35 A T 8: 85,294,961 probably benign Het
Other mutations in Fam160a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00708:Fam160a2 APN 7 105388260 missense probably damaging 1.00
IGL01972:Fam160a2 APN 7 105390145 missense probably damaging 0.99
IGL02054:Fam160a2 APN 7 105384423 missense probably damaging 1.00
IGL03037:Fam160a2 APN 7 105379086 missense probably benign 0.04
IGL03340:Fam160a2 APN 7 105389310 missense probably damaging 1.00
IGL03374:Fam160a2 APN 7 105383951 missense probably damaging 1.00
R0426:Fam160a2 UTSW 7 105389473 missense probably damaging 1.00
R0482:Fam160a2 UTSW 7 105384212 missense possibly damaging 0.87
R0586:Fam160a2 UTSW 7 105389447 missense probably damaging 1.00
R0686:Fam160a2 UTSW 7 105388309 missense probably damaging 1.00
R1617:Fam160a2 UTSW 7 105385062 missense probably damaging 1.00
R2025:Fam160a2 UTSW 7 105388936 missense probably damaging 1.00
R2042:Fam160a2 UTSW 7 105384121 nonsense probably null
R2049:Fam160a2 UTSW 7 105389839 missense probably damaging 1.00
R2201:Fam160a2 UTSW 7 105388191 missense probably damaging 1.00
R3778:Fam160a2 UTSW 7 105388228 missense probably damaging 1.00
R4094:Fam160a2 UTSW 7 105388218 missense probably damaging 1.00
R4348:Fam160a2 UTSW 7 105385349 missense probably damaging 1.00
R4482:Fam160a2 UTSW 7 105389674 missense probably benign 0.06
R4609:Fam160a2 UTSW 7 105388224 missense probably damaging 1.00
R4742:Fam160a2 UTSW 7 105384311 missense probably damaging 0.99
R4977:Fam160a2 UTSW 7 105389335 missense probably damaging 1.00
R5642:Fam160a2 UTSW 7 105389882 missense probably damaging 1.00
R6404:Fam160a2 UTSW 7 105384991 nonsense probably null
R6906:Fam160a2 UTSW 7 105388269 missense probably damaging 1.00
R7053:Fam160a2 UTSW 7 105384572 missense probably damaging 1.00
R7265:Fam160a2 UTSW 7 105384225 missense probably benign 0.00
R7808:Fam160a2 UTSW 7 105384525 missense probably damaging 1.00
R8246:Fam160a2 UTSW 7 105389660 missense probably damaging 0.98
R8253:Fam160a2 UTSW 7 105379087 missense possibly damaging 0.54
R8379:Fam160a2 UTSW 7 105385135 missense possibly damaging 0.65
R8497:Fam160a2 UTSW 7 105381189 missense probably damaging 1.00
X0022:Fam160a2 UTSW 7 105389709 nonsense probably null
Z1190:Fam160a2 UTSW 7 105388321 missense possibly damaging 0.95
Posted On2016-08-02