Incidental Mutation 'R2440:Albfm1'
ID 249756
Institutional Source Beutler Lab
Gene Symbol Albfm1
Ensembl Gene ENSMUSG00000070690
Gene Name albumin superfamily member 1
Synonyms 5830473C10Rik, Gm17754, ARG
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R2440 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 90708966-90745730 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 90720548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094615] [ENSMUST00000200765]
AlphaFold F8VQ07
Predicted Effect probably null
Transcript: ENSMUST00000094615
SMART Domains Protein: ENSMUSP00000092198
Gene: ENSMUSG00000070690

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 probably null
Transcript: ENSMUST00000200765
SMART Domains Protein: ENSMUSP00000144527
Gene: ENSMUSG00000070690

DomainStartEndE-ValueType
ALBUMIN 17 207 4.3e-28 SMART
ALBUMIN 214 355 3.3e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200783
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200893
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T C 15: 59,888,129 (GRCm39) T104A probably benign Het
Adar A G 3: 89,642,161 (GRCm39) H14R possibly damaging Het
Alcam T A 16: 52,125,976 (GRCm39) M114L probably damaging Het
Ccn4 T A 15: 66,784,706 (GRCm39) D126E possibly damaging Het
Cntn5 A G 9: 10,171,960 (GRCm39) Y75H possibly damaging Het
Coch T C 12: 51,643,345 (GRCm39) S122P probably damaging Het
Cyp2c69 T C 19: 39,864,738 (GRCm39) K247E probably benign Het
Gm1527 A G 3: 28,949,764 (GRCm39) D8G probably damaging Het
Gpat3 C T 5: 101,005,039 (GRCm39) P58L probably benign Het
Itga8 G A 2: 12,183,491 (GRCm39) T751I possibly damaging Het
Kif5a A G 10: 127,067,205 (GRCm39) V904A probably benign Het
Lpgat1 A G 1: 191,492,321 (GRCm39) E269G probably benign Het
Or12j5 T A 7: 140,083,465 (GRCm39) K302N probably benign Het
Pde4d A G 13: 110,063,731 (GRCm39) probably benign Het
Rita1 T C 5: 120,748,004 (GRCm39) Y98C probably damaging Het
Surf1 A G 2: 26,803,919 (GRCm39) probably null Het
Sv2c A G 13: 96,185,084 (GRCm39) Y198H probably damaging Het
Svs3a T C 2: 164,131,551 (GRCm39) F41L possibly damaging Het
Tigd2 A G 6: 59,186,980 (GRCm39) probably benign Het
Tubb4a C A 17: 57,393,285 (GRCm39) G38W probably damaging Het
Tyrp1 G A 4: 80,764,843 (GRCm39) V7I probably benign Het
Unc45a A G 7: 79,978,805 (GRCm39) Y615H probably damaging 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
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
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'- TGGGTCTGCACATCATCACC -3'
(R):5'- TGCAAGTGTATCATTGCTTGAG -3'

Sequencing Primer
(F):5'- TGCACATCATCACCAAAGCAGTTG -3'
(R):5'- GCAAGTGTATCATTGCTTGAGAATTC -3'
Posted On 2014-11-12