Incidental Mutation 'R4488:Alkal1'
ID 330576
Institutional Source Beutler Lab
Gene Symbol Alkal1
Ensembl Gene ENSMUSG00000087247
Gene Name ALK and LTK ligand 1
Synonyms EG620393, Augbeta, Augmentor beta, Fam150a
MMRRC Submission 041744-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R4488 (G1)
Quality Score 220
Status Validated
Chromosome 1
Chromosomal Location 6429555-6464955 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 6429631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 26 (Q26L)
Ref Sequence ENSEMBL: ENSMUSP00000137420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000133144]
AlphaFold J3QPP8
Predicted Effect probably benign
Transcript: ENSMUST00000133144
AA Change: Q26L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000137420
Gene: ENSMUSG00000087247
AA Change: Q26L

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:FAM150 47 126 4.4e-44 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 95% (38/40)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bltp1 A T 3: 37,058,082 (GRCm39) Q3224L probably null Het
Brox A G 1: 183,062,514 (GRCm39) L280S probably benign Het
Cep41 A T 6: 30,655,688 (GRCm39) probably benign Het
Cryz C A 3: 154,324,094 (GRCm39) probably benign Het
Cyp26c1 T C 19: 37,681,658 (GRCm39) V487A probably benign Het
Dlx6 T C 6: 6,867,207 (GRCm39) M270T probably damaging Het
Glb1 T C 9: 114,272,182 (GRCm39) I273T probably damaging Het
Glp1r A C 17: 31,137,905 (GRCm39) H112P probably benign Het
Grm6 T C 11: 50,750,816 (GRCm39) S660P probably damaging Het
Hao2 T A 3: 98,789,341 (GRCm39) I116F probably damaging Het
Hcrtr1 A G 4: 130,029,556 (GRCm39) V175A probably benign Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Kifbp A G 10: 62,398,806 (GRCm39) probably benign Het
Mki67 G A 7: 135,299,400 (GRCm39) T1878I probably benign Het
Ncoa6 A G 2: 155,249,396 (GRCm39) F1303L possibly damaging Het
Ngf G A 3: 102,428,015 (GRCm39) D255N probably damaging Het
Nutf2 T A 8: 106,603,059 (GRCm39) probably null Het
Or52e7 T C 7: 104,684,510 (GRCm39) F35S probably benign Het
Rbm45 T C 2: 76,206,740 (GRCm39) S251P probably damaging Het
Rnaset2b A G 17: 7,265,469 (GRCm39) Y155C probably damaging Het
Rnf122 A G 8: 31,618,283 (GRCm39) T92A probably damaging Het
Rnf220 A G 4: 117,347,011 (GRCm39) S134P probably damaging Het
Shprh A T 10: 11,036,215 (GRCm39) I351F probably benign Het
Smchd1 T C 17: 71,714,230 (GRCm39) T878A probably benign Het
Sulf1 G T 1: 12,856,739 (GRCm39) probably benign Het
Svil T C 18: 5,049,067 (GRCm39) Y202H probably damaging Het
Tek A G 4: 94,737,993 (GRCm39) D681G possibly damaging Het
Tra2a A G 6: 49,229,428 (GRCm39) probably benign Het
Vcp A T 4: 42,993,826 (GRCm39) I102N probably damaging Het
Vmn2r25 A T 6: 123,799,819 (GRCm39) I841N probably damaging Het
Zfp949 T C 9: 88,452,142 (GRCm39) S571P probably damaging Het
Zkscan16 A G 4: 58,957,431 (GRCm39) E571G possibly damaging Het
Zup1 G A 10: 33,824,960 (GRCm39) T174I probably damaging Het
Other mutations in Alkal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1184:Alkal1 UTSW 1 6,459,712 (GRCm39) missense probably damaging 1.00
R2163:Alkal1 UTSW 1 6,459,736 (GRCm39) missense probably benign 0.02
R4222:Alkal1 UTSW 1 6,458,839 (GRCm39) missense probably damaging 0.99
R6474:Alkal1 UTSW 1 6,459,670 (GRCm39) missense probably damaging 1.00
R7641:Alkal1 UTSW 1 6,459,712 (GRCm39) missense probably damaging 1.00
R7674:Alkal1 UTSW 1 6,459,712 (GRCm39) missense probably damaging 1.00
R7738:Alkal1 UTSW 1 6,459,728 (GRCm39) missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- CATCCTGAAGCCGAGGAAAAGATC -3'
(R):5'- TAATTCAGCCTTCCCGACAGC -3'

Sequencing Primer
(F):5'- GGTCCTGTGTCCCGACATAC -3'
(R):5'- TTCCCGACAGCAGCTTG -3'
Posted On 2015-07-21