Incidental Mutation 'IGL01875:Afm'
ID178887
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Afm
Ensembl Gene ENSMUSG00000029369
Gene Nameafamin
Synonymsalpha albumin, Alf
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL01875
Quality Score
Status
Chromosome5
Chromosomal Location90518932-90553543 bp(+) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) G to T at 90548883 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113179] [ENSMUST00000128740]
Predicted Effect probably benign
Transcript: ENSMUST00000113179
SMART Domains Protein: ENSMUSP00000108804
Gene: ENSMUSG00000029369

DomainStartEndE-ValueType
ALBUMIN 20 205 3.69e-55 SMART
ALBUMIN 212 397 6.42e-64 SMART
ALBUMIN 404 593 3.07e-61 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128740
SMART Domains Protein: ENSMUSP00000117180
Gene: ENSMUSG00000029369

DomainStartEndE-ValueType
ALBUMIN 20 205 3.69e-55 SMART
ALBUMIN 212 397 6.42e-64 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200893
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 is a member of the albumin gene family, which is comprised of four genes that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related serum transport proteins that are known to be evolutionarily related. The protein encoded by this gene is regulated developmentally, expressed in the liver and secreted into the bloodstream. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 A G 11: 102,772,856 T287A probably damaging Het
Ankrd24 A G 10: 81,629,737 probably benign Het
Ankrd53 G T 6: 83,763,049 E62* probably null Het
Atg4b A G 1: 93,778,310 S162G probably damaging Het
B530045E10Rik A T 10: 99,422,315 noncoding transcript Het
Ccng1 A G 11: 40,752,356 V88A probably benign Het
Ces1e T A 8: 93,223,896 M86L probably benign Het
Chrne A T 11: 70,618,672 probably null Het
Ctsh T C 9: 90,064,207 S109P probably damaging Het
Eif4g1 A C 16: 20,681,040 I420L probably damaging Het
Ep300 T A 15: 81,640,023 S1351T unknown Het
Fgfr1 A G 8: 25,573,553 M732V possibly damaging Het
Gata5 T G 2: 180,327,345 probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm3633 A T 14: 42,639,277 M18K probably damaging Het
Gucy1b2 A G 14: 62,420,146 L211P probably damaging Het
Hemgn T C 4: 46,396,994 N81D possibly damaging Het
Irs2 A T 8: 11,006,221 M737K probably damaging Het
Itgb7 C A 15: 102,217,995 C502F probably damaging Het
Jakmip1 G T 5: 37,120,980 A534S probably damaging Het
Kidins220 A G 12: 25,057,729 H1636R probably benign Het
Kirrel T A 3: 87,095,730 I119F probably damaging Het
Lrba T C 3: 86,310,047 V527A probably damaging Het
Mitf A G 6: 98,017,895 E409G probably benign Het
Mtrr T G 13: 68,572,609 K289T probably damaging Het
Muc2 A T 7: 141,752,740 I739F probably damaging Het
Ncor2 T C 5: 125,065,870 T612A unknown Het
Olfr1126 T A 2: 87,457,310 N48K probably damaging Het
Olfr54 A T 11: 51,027,375 R124S probably damaging Het
Olfr806 T A 10: 129,738,922 probably benign Het
Olfr901 T A 9: 38,430,298 N5K probably damaging Het
P4ha3 T A 7: 100,300,652 C109S probably damaging Het
Prkd3 T C 17: 78,957,206 E660G possibly damaging Het
Rbm4b G A 19: 4,762,191 M209I probably benign Het
Reln T A 5: 21,904,717 T3132S probably benign Het
Selenbp2 T A 3: 94,698,144 D92E possibly damaging Het
Slfn8 G T 11: 83,004,079 Q634K probably benign Het
Sumo3 A T 10: 77,613,998 I57F probably benign Het
Tacr1 A G 6: 82,557,016 Y341C probably benign Het
Tlr4 T A 4: 66,839,489 L173Q probably damaging Het
Tshz3 C T 7: 36,769,960 T458M probably damaging Het
Vmn1r91 T A 7: 20,101,934 C259* probably null Het
Vmn2r16 T C 5: 109,330,411 F11L probably benign Het
Vmn2r28 T A 7: 5,481,303 M633L probably benign Het
Vmn2r35 T C 7: 7,816,773 probably benign Het
Vwc2l G T 1: 70,729,013 A79S probably benign Het
Zfhx2 G A 14: 55,063,915 S2204F unknown Het
Other mutations in Afm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Afm APN 5 90525591 missense probably benign 0.01
IGL01140:Afm APN 5 90524867 missense probably damaging 1.00
IGL01789:Afm APN 5 90525584 missense probably benign 0.32
IGL01819:Afm APN 5 90524906 missense probably benign 0.01
IGL01826:Afm APN 5 90524928 splice site probably benign
IGL02337:Afm APN 5 90547911 missense probably benign
IGL02902:Afm APN 5 90526363 missense possibly damaging 0.58
IGL02950:Afm APN 5 90531607 missense probably damaging 1.00
R0009:Afm UTSW 5 90545384 splice site probably benign
R0009:Afm UTSW 5 90545384 splice site probably benign
R0135:Afm UTSW 5 90550322 missense probably benign 0.00
R0582:Afm UTSW 5 90524780 splice site probably benign
R1416:Afm UTSW 5 90526379 missense possibly damaging 0.74
R1465:Afm UTSW 5 90550341 missense probably damaging 1.00
R1465:Afm UTSW 5 90550341 missense probably damaging 1.00
R1834:Afm UTSW 5 90526424 missense probably benign 0.01
R1919:Afm UTSW 5 90524920 nonsense probably null
R2071:Afm UTSW 5 90523735 missense probably benign 0.17
R2843:Afm UTSW 5 90526465 nonsense probably null
R2979:Afm UTSW 5 90522163 missense probably benign 0.19
R4853:Afm UTSW 5 90551467 missense probably damaging 1.00
R5400:Afm UTSW 5 90551398 missense possibly damaging 0.86
R5551:Afm UTSW 5 90531652 missense probably null 0.97
R5583:Afm UTSW 5 90547881 missense probably damaging 1.00
R5780:Afm UTSW 5 90551431 missense possibly damaging 0.87
R7378:Afm UTSW 5 90551400 missense probably benign 0.00
R7470:Afm UTSW 5 90531627 missense probably damaging 0.99
R7785:Afm UTSW 5 90550173 missense possibly damaging 0.93
R7799:Afm UTSW 5 90523854 missense probably benign 0.00
R7809:Afm UTSW 5 90524816 missense probably damaging 1.00
R7897:Afm UTSW 5 90547868 missense probably benign 0.00
R7980:Afm UTSW 5 90547868 missense probably benign 0.00
X0022:Afm UTSW 5 90545414 missense probably damaging 1.00
Z1177:Afm UTSW 5 90521946 missense probably benign 0.05
Z1177:Afm UTSW 5 90531506 missense probably benign 0.07
Z1177:Afm UTSW 5 90531616 missense probably damaging 1.00
Z1177:Afm UTSW 5 90551383 missense possibly damaging 0.87
Posted On2014-05-07