Incidental Mutation 'IGL01541:Fam71a'
ID90142
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 #IGL01541
Quality Score
Status
Chromosome1
Chromosomal Location191162584-191164817 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 191164409 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 12 (Y12*)
Ref Sequence ENSEMBL: ENSMUSP00000127945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171798]
Predicted Effect probably null
Transcript: ENSMUST00000171798
AA Change: Y12*
SMART Domains Protein: ENSMUSP00000127945
Gene: ENSMUSG00000091017
AA Change: Y12*

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G A 12: 118,911,434 H668Y probably benign Het
Adamts10 A G 17: 33,543,231 S505G probably benign Het
Ahnak C T 19: 9,007,879 H2176Y possibly damaging Het
Ash1l G T 3: 89,066,265 D2544Y probably damaging Het
Ccdc88a T A 11: 29,400,283 F88L probably benign Het
Cdc42bpa A T 1: 180,151,158 probably null Het
Celsr3 T C 9: 108,831,708 V1251A probably damaging Het
CN725425 T A 15: 91,245,752 F273I possibly damaging Het
Eif2b1 A G 5: 124,576,902 C104R probably damaging Het
Ercc3 A T 18: 32,248,319 D396V possibly damaging Het
Fga A T 3: 83,032,707 D556V probably damaging Het
Frg1 C T 8: 41,410,325 probably benign Het
Fto T C 8: 91,409,748 Y217H probably damaging Het
Grin3a A T 4: 49,792,533 V400E probably damaging Het
Gtse1 T A 15: 85,875,654 L682* probably null Het
Igkv6-32 A G 6: 70,074,306 I22T probably benign Het
Lama1 G A 17: 67,785,070 R1646H probably benign Het
Lamp1 T C 8: 13,165,905 C35R probably damaging Het
Lzts3 A T 2: 130,636,206 L324Q probably damaging Het
Muc6 T A 7: 141,649,804 R453* probably null Het
Naa35 T A 13: 59,600,963 H132Q probably damaging Het
Pgm5 C A 19: 24,816,413 G296W probably damaging Het
Pkd1 T A 17: 24,586,298 C3275S probably damaging Het
Podxl2 A G 6: 88,849,349 L325P probably benign Het
Prom2 A G 2: 127,529,130 probably null Het
Rab12 T C 17: 66,497,409 S185G probably damaging Het
Rnf43 T G 11: 87,730,220 M313R probably null Het
Rusc2 T C 4: 43,415,840 V382A probably benign Het
Sbno1 A T 5: 124,378,555 probably benign Het
Smg6 T C 11: 74,925,944 I10T probably benign Het
Smpd1 T C 7: 105,555,826 F304S possibly damaging Het
Spta1 G A 1: 174,217,159 V1454I probably benign Het
Tdrd7 A T 4: 46,018,551 I722F possibly damaging Het
Topors T C 4: 40,262,364 T307A possibly damaging Het
Ttn C T 2: 76,977,158 R77Q probably damaging Het
Vmn1r210 C T 13: 22,827,608 M169I probably benign Het
Zc3h4 A G 7: 16,434,332 S789G unknown Het
Zfp629 G T 7: 127,612,745 probably benign Het
Zfp977 C A 7: 42,580,732 R123I probably benign Het
Other mutations in Fam71a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Fam71a APN 1 191163027 missense probably benign 0.00
IGL02364:Fam71a APN 1 191163516 missense probably benign 0.03
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 On2013-12-03