Incidental Mutation 'R0234:Fam71a'
ID59002
Institutional Source Beutler Lab
Gene Symbol Fam71a
Ensembl Gene ENSMUSG00000091017
Gene Namefamily with sequence similarity 71, member A
Synonyms
MMRRC Submission 038475-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #R0234 (G1)
Quality Score200
Status Not validated
Chromosome1
Chromosomal Location191162584-191164817 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 191162908 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 513 (S513G)
Ref Sequence ENSEMBL: ENSMUSP00000127945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171798]
Predicted Effect probably benign
Transcript: ENSMUST00000171798
AA Change: S513G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127945
Gene: ENSMUSG00000091017
AA Change: S513G

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
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.1%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik T A 7: 131,194,303 probably null Het
A3galt2 A G 4: 128,767,148 R197G possibly damaging Het
Acacb A T 5: 114,209,817 H983L probably damaging Het
Adal T A 2: 121,148,317 D139E probably benign Het
Adam6b G A 12: 113,490,610 R349H probably damaging Het
Agap1 A G 1: 89,671,212 K331E probably damaging Het
Alyref T C 11: 120,598,307 D11G probably damaging Het
B3gat1 A G 9: 26,756,081 E203G probably damaging Het
Bsn T C 9: 108,116,396 E719G possibly damaging Het
Cap2 G C 13: 46,638,022 probably null Het
Ccni A G 5: 93,202,327 V31A probably benign Het
Cfap54 A T 10: 92,899,160 L2343* probably null Het
Clns1a T A 7: 97,714,032 Y204N possibly damaging Het
Cox11 C T 11: 90,644,500 T259I probably damaging Het
D430042O09Rik T C 7: 125,795,385 V211A probably benign Het
Dsp A G 13: 38,187,893 N940S probably benign Het
Erbb2 T C 11: 98,436,439 V1181A probably benign Het
Exoc4 T C 6: 33,862,087 V686A possibly damaging Het
F830045P16Rik A G 2: 129,463,464 V330A possibly damaging Het
Fbf1 A C 11: 116,155,034 F245V probably damaging Het
Fut10 T A 8: 31,236,197 F327I probably damaging Het
Galnt1 C T 18: 24,254,633 P144S probably damaging Het
Ghrhr A T 6: 55,379,186 D88V possibly damaging Het
Greb1l T A 18: 10,560,331 C1864S probably damaging Het
Hist1h1c T C 13: 23,739,123 I92T probably benign Het
Hps1 T C 19: 42,762,553 E336G probably damaging Het
Ibsp GGAAGAAGAAGAAGAAGA GGAAGAAGAAGAAGA 5: 104,310,069 probably benign Het
Irgc1 C A 7: 24,433,328 E21D possibly damaging Het
Itsn1 A T 16: 91,828,280 R590* probably null Het
Lmln T C 16: 33,066,324 V67A probably damaging Het
Lsm14a T C 7: 34,365,617 Q179R probably damaging Het
Ltbr A C 6: 125,312,873 D119E probably benign Het
Mrc1 A G 2: 14,279,894 T565A possibly damaging Het
Muc6 A C 7: 141,649,674 N473K possibly damaging Het
Myocd A T 11: 65,187,240 D448E probably benign Het
Neil2 T A 14: 63,183,526 I239F probably damaging Het
Npnt A G 3: 132,914,414 F123S possibly damaging Het
Olfr1164 T A 2: 88,093,022 R305* probably null Het
Olfr117 T A 17: 37,660,106 I76F probably damaging Het
Olfr1309 T C 2: 111,983,300 Y258C probably damaging Het
Olfr1501 C T 19: 13,838,538 V212M possibly damaging Het
Olfr683 T C 7: 105,144,074 D73G probably damaging Het
Olfr686 C A 7: 105,203,614 C243F probably damaging Het
Olfr933 A C 9: 38,976,251 probably null Het
Pcnx3 T C 19: 5,672,618 T941A probably benign Het
Phldb3 G A 7: 24,612,579 R106Q probably benign Het
Pitrm1 C A 13: 6,575,079 Y864* probably null Het
Plcb4 T C 2: 135,982,075 I844T probably benign Het
Plekhg5 T C 4: 152,112,219 C695R probably damaging Het
Ppp1r3b T A 8: 35,384,501 F165I probably damaging Het
Prr5 T A 15: 84,703,121 F357L probably damaging Het
Rasgrf1 A T 9: 90,009,366 I1046F probably damaging Het
Rbm15b T C 9: 106,885,364 Y535C probably damaging Het
Rbp3 A T 14: 33,955,901 E602V probably damaging Het
Rimklb T C 6: 122,456,333 N343S probably benign Het
Rrp12 A G 19: 41,871,760 L1008P probably damaging Het
Sec63 C T 10: 42,798,798 R226C probably damaging Het
Sirpa T C 2: 129,615,468 V154A probably damaging Het
Slc13a5 C G 11: 72,250,800 V405L probably damaging Het
Slc17a3 C T 13: 23,855,858 S293F probably damaging Het
Slc22a23 G A 13: 34,183,261 T588I probably damaging Het
Slc22a27 C A 19: 7,926,791 probably benign Het
Slc4a4 A C 5: 89,156,336 H502P possibly damaging Het
Slc5a5 A T 8: 70,889,633 M258K probably damaging Het
Spry4 A G 18: 38,590,089 I207T possibly damaging Het
Stk11ip A G 1: 75,529,067 D460G possibly damaging Het
Syn3 T A 10: 86,448,886 I117F possibly damaging Het
Tead4 C T 6: 128,243,402 A224T probably damaging Het
Tmtc3 A T 10: 100,450,322 N546K probably benign Het
Tnn T A 1: 160,088,466 H1227L probably damaging Het
Tor2a G A 2: 32,758,704 G62D probably damaging Het
Trf T C 9: 103,226,879 probably null Het
Ubr5 T C 15: 37,968,493 T2727A probably damaging Het
Vmn2r27 T A 6: 124,231,619 T56S probably benign Het
Wipf3 T G 6: 54,496,501 L458R probably damaging Het
Zfp236 T C 18: 82,629,994 K966R probably damaging Het
Zfp27 T A 7: 29,894,107 H811L possibly damaging Het
Zfp366 A G 13: 99,234,260 H496R probably damaging Het
Zfp467 A T 6: 48,438,755 V321E 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
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
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
Predicted Primers PCR Primer
(F):5'- TCTCCATGACCTCGGATGTCACAG -3'
(R):5'- TTGACCTTGCCAAGCGAAAGCC -3'

Sequencing Primer
(F):5'- CTCGGATGTCACAGAATCAATG -3'
(R):5'- CGTCGGAAAGCCTATGAGACC -3'
Posted On2013-07-11