Incidental Mutation 'R0097:Albfm1'
ID 41153
Institutional Source Beutler Lab
Gene Symbol Albfm1
Ensembl Gene ENSMUSG00000070690
Gene Name albumin superfamily member 1
Synonyms 5830473C10Rik, Gm17754, ARG
MMRRC Submission 038383-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R0097 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 90708966-90745730 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 90732795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 535 (S535R)
Ref Sequence ENSEMBL: ENSMUSP00000092198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094615]
AlphaFold F8VQ07
Predicted Effect probably benign
Transcript: ENSMUST00000094615
AA Change: S535R

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000092198
Gene: ENSMUSG00000070690
AA Change: S535R

DomainStartEndE-ValueType
ALBUMIN 17 207 8.87e-26 SMART
ALBUMIN 214 399 1.45e-53 SMART
ALBUMIN 406 598 7.07e-43 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200783
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200893
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,206,129 (GRCm39) I353K probably benign Het
Arfgap2 T A 2: 91,105,160 (GRCm39) V422E probably benign Het
Baz1b T C 5: 135,227,113 (GRCm39) S105P probably benign Het
Bbs10 T C 10: 111,134,705 (GRCm39) V41A probably damaging Het
Cacna1s T A 1: 136,028,360 (GRCm39) M899K possibly damaging Het
Ccnd2 G A 6: 127,123,015 (GRCm39) A180V probably benign Het
Ciao3 T C 17: 25,995,976 (GRCm39) S67P possibly damaging Het
Cldnd1 A G 16: 58,550,078 (GRCm39) N87S possibly damaging Het
Cyp2c54 T A 19: 40,036,102 (GRCm39) probably benign Het
Cyp2c54 G T 19: 40,036,103 (GRCm39) probably benign Het
Dab2ip G A 2: 35,608,928 (GRCm39) V629M possibly damaging Het
Ddx41 A T 13: 55,683,691 (GRCm39) probably benign Het
Dmrta1 A T 4: 89,577,109 (GRCm39) R188S probably benign Het
Eml3 T A 19: 8,914,015 (GRCm39) F465L probably benign Het
Gm9938 T A 19: 23,701,828 (GRCm39) probably benign Het
Gpr87 G A 3: 59,086,506 (GRCm39) T333I probably damaging Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Llgl2 T A 11: 115,735,323 (GRCm39) Y59* probably null Het
Lzic A G 4: 149,572,533 (GRCm39) E41G probably damaging Het
Mprip T A 11: 59,649,317 (GRCm39) L1007Q possibly damaging Het
Mtfr2 T A 10: 20,224,122 (GRCm39) S19T probably damaging Het
Mycbp2 A T 14: 103,393,198 (GRCm39) M3121K probably damaging Het
Myocd T A 11: 65,069,840 (GRCm39) M667L possibly damaging Het
Ncam2 A G 16: 81,314,425 (GRCm39) D467G probably damaging Het
Neb T C 2: 52,094,906 (GRCm39) N4882S probably damaging Het
Neu2 A G 1: 87,525,188 (GRCm39) D391G probably benign Het
Nol4 C A 18: 22,852,198 (GRCm39) A456S probably benign Het
Or5m13 T C 2: 85,749,184 (GRCm39) V305A probably benign Het
Padi6 C T 4: 140,458,268 (GRCm39) V513M probably benign Het
Pign G A 1: 105,515,701 (GRCm39) probably benign Het
Plpp2 T C 10: 79,366,371 (GRCm39) E91G possibly damaging Het
Pnp T A 14: 51,188,873 (GRCm39) V222D probably damaging Het
Pnp2 C T 14: 51,200,958 (GRCm39) R148C probably benign Het
Pramel30 T C 4: 144,057,857 (GRCm39) S155P probably benign Het
Prss38 A G 11: 59,266,434 (GRCm39) L8S possibly damaging Het
Rab5b A T 10: 128,518,809 (GRCm39) F108I probably damaging Het
Rbbp5 T A 1: 132,418,227 (GRCm39) H15Q possibly damaging Het
Rhox4f A C X: 36,789,122 (GRCm39) V15G probably benign Het
Rsl1 A C 13: 67,329,966 (GRCm39) Q138P probably damaging Het
Ryr3 T C 2: 112,630,400 (GRCm39) D2157G probably damaging Het
Secisbp2l T C 2: 125,613,376 (GRCm39) D206G probably damaging Het
Sh3pxd2b T A 11: 32,353,978 (GRCm39) I182N probably damaging Het
Slc3a1 A T 17: 85,340,288 (GRCm39) I237F probably damaging Het
Svs3b T C 2: 164,098,159 (GRCm39) E54G probably damaging Het
T A T 17: 8,658,733 (GRCm39) probably benign Het
Tenm4 A T 7: 96,542,133 (GRCm39) D1882V probably damaging Het
Tgfbr1 T A 4: 47,403,451 (GRCm39) L283* probably null Het
Tppp3 C T 8: 106,194,554 (GRCm39) A149T probably benign Het
Ubp1 T C 9: 113,802,575 (GRCm39) probably benign Het
Ushbp1 C T 8: 71,843,357 (GRCm39) C314Y probably damaging Het
Vav2 A T 2: 27,189,374 (GRCm39) probably benign Het
Vmn1r228 T C 17: 20,996,625 (GRCm39) M298V probably benign Het
Zmpste24 A T 4: 120,952,740 (GRCm39) probably benign Het
Other mutations in Albfm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02216:Albfm1 APN 5 90,727,438 (GRCm39) unclassified probably benign
IGL02343:Albfm1 APN 5 90,727,473 (GRCm39) missense probably damaging 0.99
IGL02749:Albfm1 APN 5 90,719,624 (GRCm39) missense possibly damaging 0.84
IGL02956:Albfm1 APN 5 90,727,497 (GRCm39) missense possibly damaging 0.46
R0097:Albfm1 UTSW 5 90,732,795 (GRCm39) missense probably benign 0.02
R0513:Albfm1 UTSW 5 90,725,786 (GRCm39) missense probably benign 0.00
R0551:Albfm1 UTSW 5 90,720,578 (GRCm39) missense probably damaging 1.00
R1508:Albfm1 UTSW 5 90,729,780 (GRCm39) missense probably benign 0.00
R1797:Albfm1 UTSW 5 90,727,460 (GRCm39) missense probably damaging 0.99
R2205:Albfm1 UTSW 5 90,717,421 (GRCm39) missense possibly damaging 0.50
R2323:Albfm1 UTSW 5 90,732,711 (GRCm39) nonsense probably null
R2440:Albfm1 UTSW 5 90,720,548 (GRCm39) critical splice acceptor site probably null
R4074:Albfm1 UTSW 5 90,740,727 (GRCm39) splice site probably null
R4211:Albfm1 UTSW 5 90,712,096 (GRCm39) missense probably damaging 1.00
R4426:Albfm1 UTSW 5 90,720,642 (GRCm39) missense probably damaging 1.00
R4625:Albfm1 UTSW 5 90,719,611 (GRCm39) missense probably damaging 0.99
R4823:Albfm1 UTSW 5 90,714,362 (GRCm39) missense probably benign 0.01
R4922:Albfm1 UTSW 5 90,727,570 (GRCm39) missense possibly damaging 0.84
R4923:Albfm1 UTSW 5 90,709,158 (GRCm39) missense probably benign 0.07
R5218:Albfm1 UTSW 5 90,729,777 (GRCm39) missense probably benign 0.34
R5267:Albfm1 UTSW 5 90,732,716 (GRCm39) missense probably damaging 0.99
R5447:Albfm1 UTSW 5 90,732,169 (GRCm39) missense probably damaging 1.00
R5737:Albfm1 UTSW 5 90,720,642 (GRCm39) missense probably damaging 1.00
R5966:Albfm1 UTSW 5 90,719,546 (GRCm39) missense probably damaging 1.00
R6045:Albfm1 UTSW 5 90,732,848 (GRCm39) missense possibly damaging 0.86
R6290:Albfm1 UTSW 5 90,740,864 (GRCm39) critical splice donor site probably null
R6799:Albfm1 UTSW 5 90,727,474 (GRCm39) missense probably damaging 0.99
R6923:Albfm1 UTSW 5 90,725,652 (GRCm39) missense probably benign 0.32
R7088:Albfm1 UTSW 5 90,720,609 (GRCm39) nonsense probably null
R7238:Albfm1 UTSW 5 90,727,519 (GRCm39) missense probably damaging 1.00
R7319:Albfm1 UTSW 5 90,719,625 (GRCm39) critical splice donor site probably null
R7631:Albfm1 UTSW 5 90,727,531 (GRCm39) missense probably damaging 1.00
R7798:Albfm1 UTSW 5 90,745,370 (GRCm39) missense possibly damaging 0.72
R7821:Albfm1 UTSW 5 90,740,747 (GRCm39) missense possibly damaging 0.95
R8041:Albfm1 UTSW 5 90,740,864 (GRCm39) critical splice donor site probably null
R8353:Albfm1 UTSW 5 90,714,360 (GRCm39) missense possibly damaging 0.67
R8453:Albfm1 UTSW 5 90,714,360 (GRCm39) missense possibly damaging 0.67
R8762:Albfm1 UTSW 5 90,714,461 (GRCm39) missense probably benign 0.32
Predicted Primers PCR Primer
(F):5'- CTTTACTTAGCCGCAAGGGAGGAC -3'
(R):5'- TGCTCTTTATGCAGGAGTTGCATCAG -3'

Sequencing Primer
(F):5'- TCCCCTGGGTTACATACAAGG -3'
(R):5'- AAGCCACCTTGTGCCTAACA -3'
Posted On 2013-05-23