Incidental Mutation 'R8707:Igfals'
ID 669318
Institutional Source Beutler Lab
Gene Symbol Igfals
Ensembl Gene ENSMUSG00000046070
Gene Name insulin-like growth factor binding protein, acid labile subunit
Synonyms Albs, ALS
MMRRC Submission 068561-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8707 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 25096818-25100985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 25099185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 92 (A92E)
Ref Sequence ENSEMBL: ENSMUSP00000060169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044252] [ENSMUST00000050714]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000044252
SMART Domains Protein: ENSMUSP00000049319
Gene: ENSMUSG00000039183

DomainStartEndE-ValueType
Pfam:ParA 16 267 3.2e-99 PFAM
Pfam:ArsA_ATPase 19 66 1.7e-8 PFAM
Pfam:AAA_31 19 79 1.5e-8 PFAM
Pfam:MipZ 19 155 2.1e-10 PFAM
Pfam:CbiA 21 199 2.2e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000050714
AA Change: A92E

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000060169
Gene: ENSMUSG00000046070
AA Change: A92E

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
LRRNT 40 78 9.37e-10 SMART
LRR 77 96 1.62e1 SMART
LRR 97 120 1.41e1 SMART
LRR_TYP 121 144 6.78e-3 SMART
LRR 145 168 1.03e1 SMART
LRR_TYP 169 192 1.1e-2 SMART
LRR 193 216 2.17e-1 SMART
LRR_TYP 217 240 2.4e-3 SMART
LRR_TYP 241 264 1.82e-3 SMART
LRR 265 288 5.72e-1 SMART
LRR_TYP 289 312 6.23e-2 SMART
LRR_TYP 313 336 6.32e-3 SMART
LRR_TYP 337 360 2.2e-2 SMART
LRR 361 384 1.89e-1 SMART
LRR 385 408 3.87e1 SMART
LRR 409 432 2.67e-1 SMART
LRR_TYP 433 456 1.06e-4 SMART
LRR_TYP 457 480 6.78e-3 SMART
LRR 481 504 1.09e2 SMART
LRR 505 530 2.68e1 SMART
LRRCT 535 582 5.11e-8 SMART
Meta Mutation Damage Score 0.1118 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (35/35)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene gain weight more slowly after birth and display less growth in long bones. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb18 A G 1: 89,920,857 (GRCm39) L140P probably damaging Het
Ccdc8 C T 7: 16,729,975 (GRCm39) A488V unknown Het
Cfap57 C A 4: 118,450,203 (GRCm39) V640F probably benign Het
Cx3cl1 A T 8: 95,506,375 (GRCm39) T127S probably benign Het
Dars2 A G 1: 160,884,081 (GRCm39) C263R probably damaging Het
Dnajc13 T C 9: 104,069,847 (GRCm39) M1135V probably damaging Het
Echdc2 G A 4: 108,031,028 (GRCm39) R169Q probably damaging Het
Fcgbp C T 7: 27,819,920 (GRCm39) A2549V probably benign Het
Fermt1 G A 2: 132,766,881 (GRCm39) T362I probably benign Het
Fev A G 1: 74,924,316 (GRCm39) probably null Het
Gm57858 T A 3: 36,073,070 (GRCm39) D404V probably damaging Het
Idh2 GGTCCCAG GG 7: 79,748,077 (GRCm39) probably benign Het
Inppl1 G A 7: 101,478,903 (GRCm39) A33V Het
Kcnc4 A G 3: 107,355,449 (GRCm39) V333A possibly damaging Het
Lgr5 A G 10: 115,288,610 (GRCm39) L678P probably benign Het
Lmntd2 G A 7: 140,791,234 (GRCm39) R393* probably null Het
Lrrc14 T A 15: 76,597,416 (GRCm39) C109S probably benign Het
Ms4a12 A G 19: 11,192,736 (GRCm39) V200A possibly damaging Het
Mtnr1b C A 9: 15,785,809 (GRCm39) probably benign Het
Myh15 G A 16: 48,973,450 (GRCm39) C1240Y probably damaging Het
Naa25 A G 5: 121,552,875 (GRCm39) Y199C probably damaging Het
Pars2 T C 4: 106,510,359 (GRCm39) L47P probably damaging Het
Pik3ap1 G A 19: 41,313,039 (GRCm39) T358I probably damaging Het
Pop1 C T 15: 34,529,349 (GRCm39) T823I probably benign Het
Rad54l A G 4: 115,954,533 (GRCm39) V690A probably benign Het
Setdb2 G A 14: 59,660,907 (GRCm39) Q79* probably null Het
Svep1 C A 4: 58,070,197 (GRCm39) E2530* probably null Het
Synj1 T C 16: 90,752,319 (GRCm39) D1012G probably benign Het
Thbs2 C T 17: 14,911,645 (GRCm39) G11D probably damaging Het
Tmem177 G A 1: 119,838,070 (GRCm39) A203V probably benign Het
Trappc3l A G 10: 33,978,727 (GRCm39) Y177C unknown Het
Ube2d1 T C 10: 71,092,478 (GRCm39) D122G probably benign Het
Vwa5b2 A G 16: 20,412,965 (GRCm39) T116A probably benign Het
Wasf2 T A 4: 132,917,540 (GRCm39) V213E unknown Het
Other mutations in Igfals
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Igfals APN 17 25,100,634 (GRCm39) missense probably benign 0.08
IGL01796:Igfals APN 17 25,099,056 (GRCm39) missense probably damaging 0.96
IGL02448:Igfals APN 17 25,099,161 (GRCm39) missense probably damaging 1.00
R1022:Igfals UTSW 17 25,099,457 (GRCm39) missense probably damaging 0.99
R1024:Igfals UTSW 17 25,099,457 (GRCm39) missense probably damaging 0.99
R1127:Igfals UTSW 17 25,099,455 (GRCm39) missense probably damaging 1.00
R1653:Igfals UTSW 17 25,100,052 (GRCm39) missense probably benign 0.00
R1827:Igfals UTSW 17 25,099,278 (GRCm39) missense probably benign 0.20
R3872:Igfals UTSW 17 25,100,579 (GRCm39) missense possibly damaging 0.88
R3873:Igfals UTSW 17 25,100,579 (GRCm39) missense possibly damaging 0.88
R3874:Igfals UTSW 17 25,100,579 (GRCm39) missense possibly damaging 0.88
R4278:Igfals UTSW 17 25,100,191 (GRCm39) missense probably benign 0.01
R5360:Igfals UTSW 17 25,099,067 (GRCm39) missense probably benign 0.00
R5417:Igfals UTSW 17 25,099,290 (GRCm39) missense probably damaging 1.00
R5654:Igfals UTSW 17 25,100,439 (GRCm39) missense probably benign 0.23
R6261:Igfals UTSW 17 25,100,339 (GRCm39) missense possibly damaging 0.88
R7061:Igfals UTSW 17 25,099,281 (GRCm39) missense probably damaging 1.00
R7223:Igfals UTSW 17 25,100,208 (GRCm39) missense probably damaging 1.00
R7484:Igfals UTSW 17 25,098,962 (GRCm39) missense possibly damaging 0.95
R7699:Igfals UTSW 17 25,099,548 (GRCm39) missense probably damaging 1.00
R7700:Igfals UTSW 17 25,099,548 (GRCm39) missense probably damaging 1.00
R8197:Igfals UTSW 17 25,099,278 (GRCm39) missense probably benign 0.01
R8900:Igfals UTSW 17 25,099,014 (GRCm39) missense possibly damaging 0.86
R9071:Igfals UTSW 17 25,099,670 (GRCm39) missense probably damaging 0.99
R9389:Igfals UTSW 17 25,100,600 (GRCm39) missense probably benign 0.04
R9655:Igfals UTSW 17 25,099,665 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTACCTGCAGGGGACAGATC -3'
(R):5'- GGTTGTTGCCCAAACTGAGTG -3'

Sequencing Primer
(F):5'- GACAGATCCTGGAGCATCAGC -3'
(R):5'- GTTGCCCAAACTGAGTGAAGCC -3'
Posted On 2021-04-30