Incidental Mutation 'R7738:Alkal1'
ID 596355
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 045794-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R7738 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 6429555-6464955 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6459728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 101 (D101E)
Ref Sequence ENSEMBL: ENSMUSP00000137420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000133144]
AlphaFold J3QPP8
Predicted Effect probably benign
Transcript: ENSMUST00000133144
AA Change: D101E

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000137420
Gene: ENSMUSG00000087247
AA Change: D101E

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:FAM150 47 126 4.4e-44 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 C T 3: 126,741,271 (GRCm39) A1538T Het
Arhgap21 A G 2: 20,854,290 (GRCm39) S1701P probably damaging Het
Arhgap21 A G 2: 20,855,169 (GRCm39) Y1408H probably damaging Het
Armc3 A T 2: 19,293,761 (GRCm39) L517F probably damaging Het
Cep57l1 T A 10: 41,616,842 (GRCm39) E148D probably damaging Het
Clstn1 A C 4: 149,719,811 (GRCm39) Q452P probably damaging Het
Csmd1 C A 8: 16,151,004 (GRCm39) R1437L probably damaging Het
Dcbld1 C T 10: 52,188,922 (GRCm39) T249I possibly damaging Het
Dsp A G 13: 38,369,151 (GRCm39) E749G probably damaging Het
Enox1 A C 14: 77,815,220 (GRCm39) N126T probably damaging Het
Fgfr1 T A 8: 26,048,201 (GRCm39) L99Q probably damaging Het
Fscn3 G A 6: 28,434,445 (GRCm39) R340Q probably benign Het
Glrb C T 3: 80,767,491 (GRCm39) C243Y probably damaging Het
Gpld1 A T 13: 25,146,305 (GRCm39) Y183F probably damaging Het
Has2 T C 15: 56,531,108 (GRCm39) K536E possibly damaging Het
Igtp A G 11: 58,097,906 (GRCm39) E359G probably benign Het
Kat14 A G 2: 144,236,162 (GRCm39) D509G probably damaging Het
Kbtbd2 C A 6: 56,756,722 (GRCm39) S338I possibly damaging Het
Mpdz A G 4: 81,253,986 (GRCm39) S1049P probably benign Het
Ncoa3 C T 2: 165,891,987 (GRCm39) A121V probably damaging Het
Nfatc4 A G 14: 56,069,414 (GRCm39) T647A possibly damaging Het
Nip7 T C 8: 107,783,997 (GRCm39) F79S probably damaging Het
Nrxn3 A C 12: 88,817,074 (GRCm39) E251D possibly damaging Het
Olig2 T C 16: 91,024,048 (GRCm39) I254T unknown Het
Or55b4 C A 7: 102,133,818 (GRCm39) V170F probably damaging Het
Or5ac16 G A 16: 59,022,318 (GRCm39) A157V probably benign Het
Ostf1 A T 19: 18,562,065 (GRCm39) L177* probably null Het
Pabpc2 A T 18: 39,907,319 (GRCm39) I195F possibly damaging Het
Pacs1 A T 19: 5,202,378 (GRCm39) M404K probably benign Het
Pcdh1 A G 18: 38,330,529 (GRCm39) S964P probably benign Het
Pcdhb3 T A 18: 37,436,012 (GRCm39) N659K probably benign Het
Pla2g6 A T 15: 79,181,633 (GRCm39) Y537* probably null Het
Plekhn1 G A 4: 156,316,691 (GRCm39) T330M probably damaging Het
Proc G A 18: 32,260,532 (GRCm39) R198* probably null Het
Rfx8 G T 1: 39,722,091 (GRCm39) T298K probably damaging Het
S1pr4 A C 10: 81,334,341 (GRCm39) S378A probably benign Het
Saxo5 T C 8: 3,533,525 (GRCm39) F277S probably damaging Het
Slfn2 T A 11: 82,960,799 (GRCm39) F259L probably damaging Het
Snx14 T C 9: 88,289,527 (GRCm39) T242A probably benign Het
Sptbn2 A G 19: 4,774,153 (GRCm39) N68S probably damaging Het
Tmem44 A T 16: 30,362,228 (GRCm39) S201T probably benign Het
Ttc3 A T 16: 94,188,241 (GRCm39) I177L probably benign Het
Vmn1r177 T C 7: 23,565,559 (GRCm39) T106A probably damaging Het
Vmn1r28 T C 6: 58,243,039 (GRCm39) M294T probably benign Het
Zfp518b G A 5: 38,829,530 (GRCm39) T825I probably benign Het
Zfp729b A T 13: 67,740,194 (GRCm39) N690K probably benign 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
R4488:Alkal1 UTSW 1 6,429,631 (GRCm39) missense probably benign 0.06
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
Predicted Primers PCR Primer
(F):5'- ACTGCCTCCCACTGAGTTTG -3'
(R):5'- TCAACAGTACATCTAACCTTGTGCAC -3'

Sequencing Primer
(F):5'- AGGAATTCTCAGGCCAGTTC -3'
(R):5'- CTAACCTTGTGCACTGAAAGG -3'
Posted On 2019-11-26