Incidental Mutation 'IGL02364:Fam71a'
ID290646
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam71a
Ensembl Gene ENSMUSG00000091017
Gene Namefamily with sequence similarity 71, member A
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL02364
Quality Score
Status
Chromosome1
Chromosomal Location191162584-191164817 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 191163516 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 310 (N310S)
Ref Sequence ENSEMBL: ENSMUSP00000127945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171798]
Predicted Effect probably benign
Transcript: ENSMUST00000171798
AA Change: N310S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000127945
Gene: ENSMUSG00000091017
AA Change: N310S

DomainStartEndE-ValueType
Pfam:DUF3699 120 193 3.6e-31 PFAM
low complexity region 214 227 N/A INTRINSIC
low complexity region 505 513 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the Rab2B small GTPase and may be important for integrity of the Golgi body. A knockdown of this gene induces fragmentation of the Golgi, similar to the effect seen with a knockdown of the Rab2B small GTPase. The encoded protein has an N-terminal Rab-binding domain specific for Rab2B. [provided by RefSeq, Feb 2017]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933425L06Rik T A 13: 105,082,300 D47E probably damaging Het
Bdp1 A T 13: 100,055,308 probably benign Het
Car8 T C 4: 8,183,321 I225V probably benign Het
Cc2d2a T A 5: 43,735,450 N1390K probably damaging Het
Coasy T C 11: 101,084,358 V247A possibly damaging Het
Dgkq A G 5: 108,656,444 V50A probably benign Het
Dixdc1 A T 9: 50,682,631 probably benign Het
Dmxl2 G A 9: 54,393,843 A2328V probably benign Het
Exoc3l C A 8: 105,290,577 V593L possibly damaging Het
Eya3 T C 4: 132,710,055 S409P probably damaging Het
Gbp4 A T 5: 105,136,874 S50T probably damaging Het
Gm5885 A G 6: 133,530,129 noncoding transcript Het
Hypm G T X: 9,847,390 probably benign Het
Igkv12-89 A T 6: 68,834,986 Y66* probably null Het
Itgax G A 7: 128,139,982 V601M possibly damaging Het
Kank3 T C 17: 33,818,850 V291A probably benign Het
Klhl9 A G 4: 88,721,170 M278T probably damaging Het
Lrrc43 G A 5: 123,501,212 D435N possibly damaging Het
Ly75 A T 2: 60,358,507 S292T probably damaging Het
Mchr1 G A 15: 81,237,279 V77I probably benign Het
Mga T A 2: 119,964,054 C2622S possibly damaging Het
Neb G T 2: 52,296,254 Y935* probably null Het
Phf20 A G 2: 156,294,097 E612G possibly damaging Het
Pkhd1 A G 1: 20,200,783 L3182P probably benign Het
Rnf130 T C 11: 50,095,840 V337A probably benign Het
Slfn10-ps T C 11: 83,032,291 noncoding transcript Het
Sorcs1 G A 19: 50,333,598 P249L probably damaging Het
Spata13 C T 14: 60,691,274 R94C probably damaging Het
Stk38 C T 17: 28,991,416 R63Q probably benign Het
Tmem220 C A 11: 67,034,188 H174N probably benign Het
Tmem68 C A 4: 3,560,536 R216L probably damaging Het
Trim29 G A 9: 43,311,302 V143M probably benign Het
Ubqln2 T C X: 153,499,910 L486P possibly damaging Het
Usp17le G A 7: 104,768,775 Q387* probably null Het
Vps33b A G 7: 80,287,839 E445G probably damaging Het
Other mutations in Fam71a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Fam71a APN 1 191163027 missense probably benign 0.00
IGL01541:Fam71a APN 1 191164409 nonsense probably null
IGL02573:Fam71a APN 1 191163870 missense probably damaging 1.00
IGL02705:Fam71a APN 1 191164302 missense probably damaging 1.00
IGL03057:Fam71a APN 1 191162944 missense probably benign 0.01
IGL03283:Fam71a APN 1 191162832 missense probably benign 0.08
R0234:Fam71a UTSW 1 191162908 missense probably benign 0.00
R0234:Fam71a UTSW 1 191162908 missense probably benign 0.00
R0402:Fam71a UTSW 1 191164440 missense probably benign 0.03
R0635:Fam71a UTSW 1 191163727 missense probably benign
R0750:Fam71a UTSW 1 191164485 start gained probably benign
R1118:Fam71a UTSW 1 191164485 start gained probably benign
R1521:Fam71a UTSW 1 191164022 missense probably benign 0.00
R1573:Fam71a UTSW 1 191164485 start gained probably benign
R1654:Fam71a UTSW 1 191163481 missense probably benign 0.00
R1699:Fam71a UTSW 1 191163821 missense probably benign 0.01
R1900:Fam71a UTSW 1 191164434 missense possibly damaging 0.76
R2912:Fam71a UTSW 1 191163228 missense probably benign 0.00
R2939:Fam71a UTSW 1 191163906 missense possibly damaging 0.54
R3747:Fam71a UTSW 1 191164010 missense probably damaging 1.00
R4133:Fam71a UTSW 1 191163008 missense probably benign 0.05
R6038:Fam71a UTSW 1 191162722 missense probably damaging 0.98
R6038:Fam71a UTSW 1 191162722 missense probably damaging 0.98
R7179:Fam71a UTSW 1 191164021 missense probably damaging 1.00
R7182:Fam71a UTSW 1 191163351 missense probably damaging 0.99
R7261:Fam71a UTSW 1 191164111 missense unknown
R7326:Fam71a UTSW 1 191164353 missense probably benign 0.00
R7363:Fam71a UTSW 1 191163713 missense probably damaging 0.99
Z1176:Fam71a UTSW 1 191163745 missense probably benign 0.03
Posted On2015-04-16