Incidental Mutation 'R0750:Fam71a'
ID99086
Institutional Source Beutler Lab
Gene Symbol Fam71a
Ensembl Gene ENSMUSG00000091017
Gene Namefamily with sequence similarity 71, member A
Synonyms
MMRRC Submission 038930-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #R0750 (G1)
Quality Score225
Status Not validated
Chromosome1
Chromosomal Location191162584-191164817 bp(-) (GRCm38)
Type of Mutationstart gained
DNA Base Change (assembly) G to A at 191164485 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171798]
Predicted Effect probably benign
Transcript: ENSMUST00000171798
SMART Domains Protein: ENSMUSP00000127945
Gene: ENSMUSG00000091017

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 93.3%
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn A T 4: 156,166,937 L1974* probably null Het
Brd4 T C 17: 32,220,252 E418G probably benign Het
Brip1 G A 11: 86,061,499 S1152L possibly damaging Het
Btrc T G 19: 45,503,146 F81C probably damaging Het
C87499 A G 4: 88,627,668 F479S probably benign Het
Cep85l A G 10: 53,281,546 L585P probably damaging Het
Cfap46 T G 7: 139,654,670 E671D probably damaging Het
Dsg1a T C 18: 20,340,153 L761P probably benign Het
Ece2 G T 16: 20,633,050 V396L probably benign Het
Hs6st3 CGGAGGAGGAGGAGGAGGA CGGAGGAGGAGGAGGA 14: 119,138,707 probably benign Het
Id2 A G 12: 25,095,671 S114P probably damaging Het
Igf1r T C 7: 68,212,091 F1133S probably damaging Het
Izumo1 T C 7: 45,626,283 probably null Het
Krt35 A G 11: 100,096,153 S12P possibly damaging Het
Olfr76 T C 19: 12,120,713 probably null Het
Pkdrej G T 15: 85,818,074 D1220E probably benign Het
Sema3a G A 5: 13,557,125 probably null Het
Tmed6 T C 8: 107,061,769 Y182C possibly damaging Het
Tmem174 G T 13: 98,637,279 N14K probably damaging Het
Tmem87b T C 2: 128,818,436 L33P possibly damaging Het
Vmn1r16 T C 6: 57,322,827 Y270C probably benign Het
Vps37d A T 5: 135,074,440 L116Q possibly damaging Het
Zfp592 A G 7: 81,024,745 S486G probably benign 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
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
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
Predicted Primers
Posted On2014-01-10