Incidental Mutation 'R4354:Alms1-ps1'
ID 327449
Institutional Source Beutler Lab
Gene Symbol Alms1-ps1
Ensembl Gene ENSMUSG00000090256
Gene Name ALMS1, centrosome and basal body associated, pseudogene 1
Synonyms
MMRRC Submission 041107-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R4354 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 85698907-85733508 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 85732617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s):
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159498
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201219
Meta Mutation Damage Score 0.0720 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (37/38)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik C T 14: 64,210,658 (GRCm39) R190H probably benign Het
Abca8b A C 11: 109,862,518 (GRCm39) S416A probably benign Het
Abcb4 A T 5: 8,968,771 (GRCm39) N370I probably benign Het
Abi3bp T C 16: 56,353,314 (GRCm39) F81S probably benign Het
Ablim1 C T 19: 57,143,710 (GRCm39) C83Y probably damaging Het
Adamtsl1 A T 4: 86,074,921 (GRCm39) H96L probably damaging Het
AU040320 A G 4: 126,748,192 (GRCm39) probably benign Het
Chd1 T A 17: 17,610,263 (GRCm39) H472Q probably benign Het
Chgb A T 2: 132,635,864 (GRCm39) D602V probably damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gpa33 A G 1: 165,991,404 (GRCm39) T212A possibly damaging Het
Hspg2 C A 4: 137,196,222 (GRCm39) A17E probably benign Het
Irf7 T C 7: 140,845,183 (GRCm39) R8G probably damaging Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Loxhd1 T C 18: 77,483,123 (GRCm39) Y1235H probably damaging Het
Mon2 T C 10: 122,862,888 (GRCm39) T680A probably benign Het
Nab1 A T 1: 52,529,855 (GRCm39) L14Q probably damaging Het
Neu4 C T 1: 93,952,279 (GRCm39) T216I probably damaging Het
Nle1 A G 11: 82,797,257 (GRCm39) C152R possibly damaging Het
Nprl3 T A 11: 32,184,906 (GRCm39) M368L probably benign Het
Nudt9 A G 5: 104,205,977 (GRCm39) K129E probably damaging Het
Or5c1 T C 2: 37,221,888 (GRCm39) L43P probably damaging Het
Pdzd8 T C 19: 59,333,913 (GRCm39) D36G probably benign Het
Pga5 C T 19: 10,652,190 (GRCm39) probably null Het
Pold3 T C 7: 99,749,824 (GRCm39) K47E possibly damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Rab3gap1 A G 1: 127,843,378 (GRCm39) I251V probably benign Het
Susd2 G T 10: 75,475,562 (GRCm39) F447L probably damaging Het
Tbc1d7 T C 13: 43,323,344 (GRCm39) K16E probably damaging Het
Tlr8 T G X: 166,025,868 (GRCm39) Q994P probably damaging Het
Ube2j1 T C 4: 33,049,682 (GRCm39) Y227H probably benign Het
Other mutations in Alms1-ps1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5298:Alms1-ps1 UTSW 6 85,729,100 (GRCm39) intron noncoding transcript
R5418:Alms1-ps1 UTSW 6 85,732,584 (GRCm39) intron noncoding transcript
R5949:Alms1-ps1 UTSW 6 85,698,943 (GRCm39) exon noncoding transcript
Predicted Primers PCR Primer
(F):5'- TGCTGGCTTTTCAAGAGGC -3'
(R):5'- TTGTAGACACATGGGAAGCG -3'

Sequencing Primer
(F):5'- CTTTTCAAGAGGCTGGATGC -3'
(R):5'- CCAGCTACCTCTCACTTGAAGG -3'
Posted On 2015-07-07