Incidental Mutation 'R0135:Afm'
ID 21872
Institutional Source Beutler Lab
Gene Symbol Afm
Ensembl Gene ENSMUSG00000029369
Gene Name afamin
Synonyms alpha albumin, Alf
MMRRC Submission 038420-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R0135 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 90666808-90701403 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 90698181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 528 (V528L)
Ref Sequence ENSEMBL: ENSMUSP00000108804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113179] [ENSMUST00000128740]
AlphaFold O89020
Predicted Effect probably benign
Transcript: ENSMUST00000113179
AA Change: V528L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108804
Gene: ENSMUSG00000029369
AA Change: V528L

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.6%
Validation Efficiency 100% (80/80)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik A G 16: 90,852,515 (GRCm39) F207S probably damaging Het
Abhd8 T A 8: 71,910,718 (GRCm39) K363N probably benign Het
Adam11 T A 11: 102,667,399 (GRCm39) V653E probably damaging Het
Adam18 T C 8: 25,155,558 (GRCm39) S154G possibly damaging Het
Adamts1 T C 16: 85,595,591 (GRCm39) probably benign Het
Alox12b C T 11: 69,053,574 (GRCm39) H145Y probably benign Het
Ankmy2 C A 12: 36,220,434 (GRCm39) probably benign Het
Aox3 G A 1: 58,164,247 (GRCm39) probably benign Het
Arhgap28 T C 17: 68,171,583 (GRCm39) D396G probably damaging Het
B430203G13Rik T C 12: 17,974,489 (GRCm39) noncoding transcript Het
Bean1 C T 8: 104,943,807 (GRCm39) P121S probably damaging Het
Bok T C 1: 93,614,229 (GRCm39) S21P probably damaging Het
Brwd1 A C 16: 95,848,304 (GRCm39) N572K probably damaging Het
C5ar1 A T 7: 15,982,864 (GRCm39) V52E probably damaging Het
Cblif G T 19: 11,735,118 (GRCm39) C246F probably damaging Het
Cdr2l C A 11: 115,284,497 (GRCm39) P278T probably damaging Het
Cnga4 T A 7: 105,056,055 (GRCm39) I219N probably damaging Het
Cpne2 C T 8: 95,281,553 (GRCm39) probably benign Het
D430041D05Rik A G 2: 104,085,379 (GRCm39) S1057P possibly damaging Het
Def8 G A 8: 124,183,234 (GRCm39) A278T probably damaging Het
Dgcr2 A G 16: 17,676,306 (GRCm39) S152P probably damaging Het
Dstyk A T 1: 132,390,672 (GRCm39) D828V probably damaging Het
Eml2 T C 7: 18,937,877 (GRCm39) S582P probably damaging Het
Engase T C 11: 118,375,304 (GRCm39) Y359H possibly damaging Het
Fat3 T C 9: 15,918,073 (GRCm39) D1450G probably damaging Het
Fbxw8 A T 5: 118,208,552 (GRCm39) I467N probably damaging Het
Fhdc1 A T 3: 84,352,925 (GRCm39) Y767N probably damaging Het
Flii T C 11: 60,614,204 (GRCm39) D105G probably damaging Het
Gaa C T 11: 119,169,716 (GRCm39) T590I probably benign Het
Gabrr1 T A 4: 33,160,224 (GRCm39) S303T probably damaging Het
Garre1 T C 7: 33,945,382 (GRCm39) I499M probably damaging Het
Glp1r A G 17: 31,143,551 (GRCm39) I196V probably benign Het
Grm6 G A 11: 50,744,050 (GRCm39) E174K probably damaging Het
Helz2 A C 2: 180,874,062 (GRCm39) L2144R probably damaging Het
Itpr1 A T 6: 108,465,443 (GRCm39) probably benign Het
Kcns1 A T 2: 164,006,875 (GRCm39) S363T possibly damaging Het
Kif13a A T 13: 46,947,419 (GRCm39) V855E probably damaging Het
Krt42 T C 11: 100,153,985 (GRCm39) T424A possibly damaging Het
Lct A T 1: 128,212,860 (GRCm39) F1931Y probably damaging Het
Lrp1b A T 2: 41,159,251 (GRCm39) V1563E probably damaging Het
Lrrc37 C A 11: 103,508,873 (GRCm39) probably benign Het
Lzts2 T C 19: 45,014,626 (GRCm39) probably benign Het
Mamdc4 C T 2: 25,456,932 (GRCm39) R615Q possibly damaging Het
Mei1 C T 15: 81,956,170 (GRCm39) Q133* probably null Het
Mif4gd T C 11: 115,499,291 (GRCm39) E197G probably damaging Het
Ncdn A T 4: 126,640,462 (GRCm39) S544T probably benign Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Or52a5 T A 7: 103,426,970 (GRCm39) D194V probably damaging Het
Padi6 T C 4: 140,464,663 (GRCm39) T114A probably benign Het
Pigk G T 3: 152,450,343 (GRCm39) probably benign Het
Pkd1 T A 17: 24,784,045 (GRCm39) F197Y possibly damaging Het
Pld5 A T 1: 175,798,155 (GRCm39) F415I probably damaging Het
Pnpla5 A G 15: 83,998,150 (GRCm39) L364P probably damaging Het
Prrc2c G A 1: 162,543,052 (GRCm39) probably benign Het
Rab32 C T 10: 10,426,584 (GRCm39) D121N probably damaging Het
Rab44 A T 17: 29,357,106 (GRCm39) T79S probably benign Het
Reln G T 5: 22,333,647 (GRCm39) N258K probably damaging Het
Retsat A G 6: 72,579,755 (GRCm39) T177A probably damaging Het
Serpinf2 T A 11: 75,327,219 (GRCm39) H236L probably damaging Het
Slc26a6 A T 9: 108,737,794 (GRCm39) probably benign Het
Slitrk1 T A 14: 109,149,061 (GRCm39) E550V probably benign Het
Smarcd3 A T 5: 24,800,497 (GRCm39) probably benign Het
Spdye4a A C 5: 143,210,857 (GRCm39) probably null Het
Susd2 C T 10: 75,474,348 (GRCm39) G572D probably damaging Het
Tcaf3 C T 6: 42,566,692 (GRCm39) R799K probably benign Het
Tg A G 15: 66,566,719 (GRCm39) S1256G probably benign Het
Them4 A T 3: 94,230,877 (GRCm39) probably benign Het
Tmem210 C T 2: 25,178,480 (GRCm39) A47V probably damaging Het
Tnfrsf1b A G 4: 144,955,616 (GRCm39) Y47H probably benign Het
Tnik T G 3: 28,661,394 (GRCm39) N598K possibly damaging Het
Ttc3 A G 16: 94,263,127 (GRCm39) N1498D possibly damaging Het
Ttll4 C A 1: 74,719,087 (GRCm39) H313N possibly damaging Het
Vipr2 A G 12: 116,106,447 (GRCm39) I348V probably benign Het
Vps13a A G 19: 16,758,129 (GRCm39) V2A probably damaging Het
Vps72 G A 3: 95,026,508 (GRCm39) R151K probably damaging Het
Zfp106 A G 2: 120,350,968 (GRCm39) V1561A probably damaging Het
Zfp658 C A 7: 43,223,019 (GRCm39) Y431* probably null Het
Zkscan2 T C 7: 123,079,864 (GRCm39) K698E possibly damaging Het
Other mutations in Afm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Afm APN 5 90,673,450 (GRCm39) missense probably benign 0.01
IGL01140:Afm APN 5 90,672,726 (GRCm39) missense probably damaging 1.00
IGL01789:Afm APN 5 90,673,443 (GRCm39) missense probably benign 0.32
IGL01819:Afm APN 5 90,672,765 (GRCm39) missense probably benign 0.01
IGL01826:Afm APN 5 90,672,787 (GRCm39) splice site probably benign
IGL01875:Afm APN 5 90,696,742 (GRCm39) utr 3 prime probably benign
IGL02337:Afm APN 5 90,695,770 (GRCm39) missense probably benign
IGL02902:Afm APN 5 90,674,222 (GRCm39) missense possibly damaging 0.58
IGL02950:Afm APN 5 90,679,466 (GRCm39) missense probably damaging 1.00
R0009:Afm UTSW 5 90,693,243 (GRCm39) splice site probably benign
R0009:Afm UTSW 5 90,693,243 (GRCm39) splice site probably benign
R0582:Afm UTSW 5 90,672,639 (GRCm39) splice site probably benign
R1416:Afm UTSW 5 90,674,238 (GRCm39) missense possibly damaging 0.74
R1465:Afm UTSW 5 90,698,200 (GRCm39) missense probably damaging 1.00
R1465:Afm UTSW 5 90,698,200 (GRCm39) missense probably damaging 1.00
R1834:Afm UTSW 5 90,674,283 (GRCm39) missense probably benign 0.01
R1919:Afm UTSW 5 90,672,779 (GRCm39) nonsense probably null
R2071:Afm UTSW 5 90,671,594 (GRCm39) missense probably benign 0.17
R2843:Afm UTSW 5 90,674,324 (GRCm39) nonsense probably null
R2979:Afm UTSW 5 90,670,022 (GRCm39) missense probably benign 0.19
R4853:Afm UTSW 5 90,699,326 (GRCm39) missense probably damaging 1.00
R5400:Afm UTSW 5 90,699,257 (GRCm39) missense possibly damaging 0.86
R5551:Afm UTSW 5 90,679,511 (GRCm39) missense probably null 0.97
R5583:Afm UTSW 5 90,695,740 (GRCm39) missense probably damaging 1.00
R5780:Afm UTSW 5 90,699,290 (GRCm39) missense possibly damaging 0.87
R7378:Afm UTSW 5 90,699,259 (GRCm39) missense probably benign 0.00
R7470:Afm UTSW 5 90,679,486 (GRCm39) missense probably damaging 0.99
R7785:Afm UTSW 5 90,698,032 (GRCm39) missense possibly damaging 0.93
R7799:Afm UTSW 5 90,671,713 (GRCm39) missense probably benign 0.00
R7809:Afm UTSW 5 90,672,675 (GRCm39) missense probably damaging 1.00
R7897:Afm UTSW 5 90,695,727 (GRCm39) missense probably benign 0.00
R8236:Afm UTSW 5 90,671,747 (GRCm39) missense probably damaging 1.00
R8497:Afm UTSW 5 90,699,202 (GRCm39) critical splice acceptor site probably null
R8752:Afm UTSW 5 90,700,424 (GRCm39) missense probably benign 0.00
R8949:Afm UTSW 5 90,679,374 (GRCm39) nonsense probably null
R8971:Afm UTSW 5 90,696,675 (GRCm39) missense probably damaging 0.99
R9013:Afm UTSW 5 90,671,594 (GRCm39) missense probably damaging 0.99
R9067:Afm UTSW 5 90,671,674 (GRCm39) missense probably benign 0.01
R9082:Afm UTSW 5 90,698,095 (GRCm39) missense probably damaging 1.00
R9335:Afm UTSW 5 90,698,086 (GRCm39) missense probably damaging 1.00
X0022:Afm UTSW 5 90,693,273 (GRCm39) missense probably damaging 1.00
Z1177:Afm UTSW 5 90,679,475 (GRCm39) missense probably damaging 1.00
Z1177:Afm UTSW 5 90,679,365 (GRCm39) missense probably benign 0.07
Z1177:Afm UTSW 5 90,669,805 (GRCm39) missense probably benign 0.05
Z1177:Afm UTSW 5 90,699,242 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- TTGAGGTCACAAGTCTCTGCACAC -3'
(R):5'- ATTTGCACCTCTCCAGCAGCAC -3'

Sequencing Primer
(F):5'- cacacacacacacacacacac -3'
(R):5'- AGCAGCACTCTGGCTAACTG -3'
Posted On 2013-04-12