Incidental Mutation 'R7470:Afm'
ID 579111
Institutional Source Beutler Lab
Gene Symbol Afm
Ensembl Gene ENSMUSG00000029369
Gene Name afamin
Synonyms alpha albumin, Alf
MMRRC Submission 045544-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R7470 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 90666808-90701403 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 90679486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 327 (S327T)
Ref Sequence ENSEMBL: ENSMUSP00000108804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113179] [ENSMUST00000128740]
AlphaFold O89020
Predicted Effect probably damaging
Transcript: ENSMUST00000113179
AA Change: S327T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108804
Gene: ENSMUSG00000029369
AA Change: S327T

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 possibly damaging
Transcript: ENSMUST00000128740
AA Change: S327T

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117180
Gene: ENSMUSG00000029369
AA Change: S327T

DomainStartEndE-ValueType
ALBUMIN 20 205 3.69e-55 SMART
ALBUMIN 212 397 6.42e-64 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik A T 9: 55,898,622 (GRCm39) V238E possibly damaging Het
Actn3 G A 19: 4,917,842 (GRCm39) S375L possibly damaging Het
Adgrg6 T C 10: 14,319,810 (GRCm39) T476A probably benign Het
Apol7e T A 15: 77,602,143 (GRCm39) M247K probably benign Het
Aqp12 T A 1: 92,936,385 (GRCm39) L237Q probably damaging Het
Arhgef12 A T 9: 42,951,848 (GRCm39) S63T probably damaging Het
Axdnd1 T A 1: 156,204,086 (GRCm39) E393V Het
Cacna1g T A 11: 94,352,765 (GRCm39) D365V possibly damaging Het
Ccdc3 T A 2: 5,143,115 (GRCm39) V124E possibly damaging Het
Ccr7 C T 11: 99,036,383 (GRCm39) V180M possibly damaging Het
Cd47 T A 16: 49,704,585 (GRCm39) I119K Het
Cenpe A T 3: 134,947,916 (GRCm39) L1158F probably damaging Het
Cfi A G 3: 129,648,736 (GRCm39) R207G probably benign Het
Cyp2j6 T C 4: 96,423,708 (GRCm39) Y220C probably benign Het
Ddhd2 A G 8: 26,225,087 (GRCm39) F577L probably benign Het
Dhx40 T C 11: 86,667,528 (GRCm39) E537G probably damaging Het
Disp3 A T 4: 148,345,527 (GRCm39) C438S possibly damaging Het
Dock3 A G 9: 106,882,644 (GRCm39) S380P probably damaging Het
Ehmt2 A G 17: 35,118,372 (GRCm39) E106G possibly damaging Het
Fmnl2 A T 2: 52,932,377 (GRCm39) I119F probably damaging Het
Gm11554 A C 11: 99,695,190 (GRCm39) S8A unknown Het
Grm7 A G 6: 111,478,476 (GRCm39) I54V Het
Hbs1l T C 10: 21,234,683 (GRCm39) F579L possibly damaging Het
Hgf C A 5: 16,823,854 (GRCm39) Q684K probably benign Het
Igsf3 T C 3: 101,358,391 (GRCm39) Y741H possibly damaging Het
Il17rb C A 14: 29,719,990 (GRCm39) G304W probably damaging Het
Ino80c C T 18: 24,241,895 (GRCm39) W163* probably null Het
Kcnt1 A C 2: 25,799,845 (GRCm39) D997A probably damaging Het
Klf7 C T 1: 64,081,472 (GRCm39) probably null Het
Lingo1 T C 9: 56,527,908 (GRCm39) Y233C probably damaging Het
Lmo7 C A 14: 102,138,040 (GRCm39) T914K possibly damaging Het
Mark1 G T 1: 184,660,241 (GRCm39) Y138* probably null Het
Mcm3ap C A 10: 76,344,231 (GRCm39) T1791K probably damaging Het
Mcts2 T C 2: 152,529,582 (GRCm39) I131T probably benign Het
Mipep A G 14: 61,040,344 (GRCm39) D288G probably benign Het
Ms4a8a T A 19: 11,053,714 (GRCm39) N131Y possibly damaging Het
Nalcn T C 14: 123,809,456 (GRCm39) E232G probably benign Het
Nat10 C T 2: 103,565,226 (GRCm39) A452T probably benign Het
Nfatc2 G A 2: 168,365,227 (GRCm39) Q596* probably null Het
Nudt13 G T 14: 20,359,791 (GRCm39) G173W probably damaging Het
Or10n1 C A 9: 39,524,998 (GRCm39) T45K probably benign Het
Or1e16 T A 11: 73,286,714 (GRCm39) I45F probably damaging Het
Or5l14 A T 2: 87,792,793 (GRCm39) C148S possibly damaging Het
Or8b4 T A 9: 37,830,592 (GRCm39) I213N probably damaging Het
Otud4 T C 8: 80,399,989 (GRCm39) V901A probably benign Het
Pah G A 10: 87,399,286 (GRCm39) R155Q probably damaging Het
Pkd1l3 A G 8: 110,365,008 (GRCm39) H1130R probably benign Het
Pnliprp1 A G 19: 58,720,457 (GRCm39) N111S possibly damaging Het
Ppp1r21 T C 17: 88,869,649 (GRCm39) Y401H probably damaging Het
Prr14 A G 7: 127,074,997 (GRCm39) K466R probably null Het
Ralgapa2 A G 2: 146,266,587 (GRCm39) L663P probably damaging Het
Reg3d A T 6: 78,353,071 (GRCm39) C171S possibly damaging Het
Reln G T 5: 22,147,739 (GRCm39) L2404I probably damaging Het
Rnasel A C 1: 153,629,777 (GRCm39) I98L probably benign Het
Rnf216 T C 5: 142,978,480 (GRCm39) D886G possibly damaging Het
Rp1l1 A G 14: 64,266,015 (GRCm39) R534G probably benign Het
Selenon A C 4: 134,267,061 (GRCm39) S514A probably benign Het
Sema3d T A 5: 12,558,152 (GRCm39) I228N probably damaging Het
Serpinb9g T A 13: 33,670,617 (GRCm39) I35N probably damaging Het
Siglec1 A C 2: 130,917,744 (GRCm39) H1044Q probably benign Het
Skint5 T A 4: 113,614,128 (GRCm39) I693F unknown Het
Skint5 G T 4: 113,743,000 (GRCm39) L370M unknown Het
Slc12a1 G A 2: 125,059,815 (GRCm39) W905* probably null Het
Slc26a9 G C 1: 131,691,781 (GRCm39) V675L probably benign Het
Slc5a7 A T 17: 54,583,990 (GRCm39) Y433* probably null Het
Slc7a4 A G 16: 17,392,977 (GRCm39) I274T probably benign Het
Slmap A G 14: 26,148,575 (GRCm39) V612A probably benign Het
Spen T C 4: 141,206,605 (GRCm39) D674G unknown Het
Ssh1 T C 5: 114,080,488 (GRCm39) T981A possibly damaging Het
Sycp2l T C 13: 41,316,580 (GRCm39) S180P probably benign Het
Tdrd7 C A 4: 45,990,144 (GRCm39) S181R probably benign Het
Thada T C 17: 84,533,469 (GRCm39) N1661D probably benign Het
Tsga13 C A 6: 30,876,981 (GRCm39) D179Y possibly damaging Het
Ttf2 T G 3: 100,870,478 (GRCm39) Q198H possibly damaging Het
Ugt2b37 T G 5: 87,401,971 (GRCm39) Y220S probably benign Het
Unc79 C T 12: 103,061,235 (GRCm39) T1145I probably damaging Het
Unc80 T A 1: 66,661,621 (GRCm39) M1682K probably benign Het
Vcp A G 4: 42,982,891 (GRCm39) S652P probably damaging Het
Vmn2r-ps158 T A 7: 42,697,310 (GRCm39) M789K probably damaging Het
Wrnip1 T A 13: 33,000,310 (GRCm39) L439* probably null Het
Zfhx2 A G 14: 55,304,207 (GRCm39) I1259T possibly damaging Het
Zfp369 A T 13: 65,439,960 (GRCm39) T215S probably benign Het
Zfp64 A T 2: 168,767,731 (GRCm39) V627E probably damaging Het
Zfp873 T C 10: 81,895,773 (GRCm39) I168T probably benign 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
R0135:Afm UTSW 5 90,698,181 (GRCm39) missense probably benign 0.00
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
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'- ATGGAAAGAGCACTCCTGAC -3'
(R):5'- CACGCCAGGATCTTTATAGCTG -3'

Sequencing Primer
(F):5'- TGGAAAGAGCACTCCTGACAAAAATC -3'
(R):5'- ATAGCTGGTGAATTACAGTGCC -3'
Posted On 2019-10-07