Incidental Mutation 'IGL01720:Alms1'
ID 278800
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alms1
Ensembl Gene ENSMUSG00000063810
Gene Name ALMS1, centrosome and basal body associated
Synonyms Alstrom syndrome 1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01720
Quality Score
Status
Chromosome 6
Chromosomal Location 85564513-85679735 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 85605076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 1773 (R1773Q)
Ref Sequence ENSEMBL: ENSMUSP00000071904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072018] [ENSMUST00000213058]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000072018
AA Change: R1773Q

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000071904
Gene: ENSMUSG00000063810
AA Change: R1773Q

DomainStartEndE-ValueType
coiled coil region 10 39 N/A INTRINSIC
low complexity region 67 80 N/A INTRINSIC
low complexity region 98 119 N/A INTRINSIC
Blast:MYSc 127 233 1e-21 BLAST
internal_repeat_3 408 511 2.48e-7 PROSPERO
internal_repeat_2 414 804 2.09e-12 PROSPERO
internal_repeat_1 438 834 4.54e-18 PROSPERO
internal_repeat_3 652 757 2.48e-7 PROSPERO
low complexity region 903 908 N/A INTRINSIC
internal_repeat_1 916 1385 4.54e-18 PROSPERO
internal_repeat_2 1024 1390 2.09e-12 PROSPERO
low complexity region 1572 1586 N/A INTRINSIC
low complexity region 2004 2017 N/A INTRINSIC
low complexity region 2760 2773 N/A INTRINSIC
low complexity region 2950 2968 N/A INTRINSIC
low complexity region 3013 3030 N/A INTRINSIC
Pfam:ALMS_motif 3125 3247 1.8e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201862
Predicted Effect probably benign
Transcript: ENSMUST00000213058
AA Change: R2242Q

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous null mice display obesity starting after puberty, hypogonadism, hyperinsulinemia, male-specific hyperglycemia, retinal dysfunction, and late-onset hearing loss. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc2 T C 10: 80,150,333 (GRCm39) S1796P probably benign Het
Asxl3 A T 18: 22,658,382 (GRCm39) I2131F probably damaging Het
Cdc42bpa T A 1: 179,938,847 (GRCm39) D833E probably damaging Het
Cenpc1 A G 5: 86,193,284 (GRCm39) S202P possibly damaging Het
Cenpf T C 1: 189,414,583 (GRCm39) E178G probably benign Het
Cenpf T C 1: 189,383,412 (GRCm39) Y2636C probably damaging Het
Cfap251 A G 5: 123,460,557 (GRCm39) D1173G probably benign Het
Chkb C T 15: 89,312,155 (GRCm39) probably null Het
Cldn20 A G 17: 3,583,375 (GRCm39) T183A probably benign Het
Cpne8 C T 15: 90,385,703 (GRCm39) V442I probably benign Het
Cx3cl1 T A 8: 95,504,701 (GRCm39) M39K probably damaging Het
Dgkd T A 1: 87,864,487 (GRCm39) L124Q probably damaging Het
Duxf4 A C 10: 58,072,211 (GRCm39) M1R probably null Het
Fam180a T C 6: 35,290,500 (GRCm39) H161R probably benign Het
Galt C A 4: 41,757,463 (GRCm39) R212S probably damaging Het
Gja10 T C 4: 32,601,007 (GRCm39) D459G probably benign Het
Glb1 T C 9: 114,249,573 (GRCm39) probably null Het
Gm5709 A T 3: 59,513,975 (GRCm39) noncoding transcript Het
Igf2r A G 17: 12,920,200 (GRCm39) Y1380H probably damaging Het
Jag1 C T 2: 136,929,023 (GRCm39) G811D probably damaging Het
Lrguk T C 6: 34,020,412 (GRCm39) F52S probably damaging Het
Lrrc15 A T 16: 30,092,138 (GRCm39) N400K probably benign Het
Map3k12 A G 15: 102,410,621 (GRCm39) probably benign Het
Mbnl2 C T 14: 120,562,682 (GRCm39) T11I probably damaging Het
Mettl22 T C 16: 8,302,117 (GRCm39) probably benign Het
Mgat4a G A 1: 37,483,979 (GRCm39) A497V probably damaging Het
Mrpl49 C A 19: 6,105,187 (GRCm39) M91I possibly damaging Het
Or2ag18 A T 7: 106,405,416 (GRCm39) D84E probably damaging Het
Or2q1 G A 6: 42,794,527 (GRCm39) V41I probably benign Het
Pcdhb5 T G 18: 37,454,075 (GRCm39) S152A probably benign Het
Ppp1r13b T C 12: 111,824,694 (GRCm39) T102A probably benign Het
Pramel23 T A 4: 143,423,410 (GRCm39) probably benign Het
Prodh2 A G 7: 30,210,628 (GRCm39) D393G probably damaging Het
Pyroxd1 A G 6: 142,296,784 (GRCm39) probably benign Het
Rad17 A T 13: 100,759,366 (GRCm39) C554S possibly damaging Het
Rapgef5 T C 12: 117,577,055 (GRCm39) probably benign Het
Setdb2 A G 14: 59,660,885 (GRCm39) V86A possibly damaging Het
Slc38a2 A T 15: 96,589,092 (GRCm39) probably benign Het
Slc9c1 A G 16: 45,376,132 (GRCm39) Y406C probably damaging Het
Slit1 T C 19: 41,622,653 (GRCm39) D702G probably benign Het
Stat3 T C 11: 100,794,484 (GRCm39) H275R possibly damaging Het
Susd5 T A 9: 113,893,052 (GRCm39) N43K possibly damaging Het
Ttc3 A T 16: 94,186,228 (GRCm39) K124N probably damaging Het
Usp36 C A 11: 118,165,828 (GRCm39) R165L probably damaging Het
Vwf G A 6: 125,619,798 (GRCm39) R1492Q possibly damaging Het
Zbed6 A G 1: 133,585,264 (GRCm39) V691A possibly damaging Het
Other mutations in Alms1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Alms1 APN 6 85,654,946 (GRCm39) missense probably damaging 1.00
IGL00331:Alms1 APN 6 85,618,353 (GRCm39) missense possibly damaging 0.94
IGL00658:Alms1 APN 6 85,605,943 (GRCm39) missense probably damaging 1.00
IGL00835:Alms1 APN 6 85,599,116 (GRCm39) missense probably damaging 1.00
IGL00930:Alms1 APN 6 85,578,292 (GRCm39) missense probably damaging 0.98
IGL01446:Alms1 APN 6 85,673,683 (GRCm39) missense probably damaging 1.00
IGL01448:Alms1 APN 6 85,654,881 (GRCm39) missense possibly damaging 0.93
IGL01563:Alms1 APN 6 85,604,965 (GRCm39) missense probably damaging 1.00
IGL01632:Alms1 APN 6 85,604,928 (GRCm39) missense probably benign 0.07
IGL01651:Alms1 APN 6 85,633,458 (GRCm39) missense probably benign 0.05
IGL01670:Alms1 APN 6 85,655,132 (GRCm39) missense probably benign 0.00
IGL01716:Alms1 APN 6 85,605,076 (GRCm39) missense probably benign 0.01
IGL01719:Alms1 APN 6 85,605,076 (GRCm39) missense probably benign 0.01
IGL01723:Alms1 APN 6 85,605,076 (GRCm39) missense probably benign 0.01
IGL01877:Alms1 APN 6 85,599,393 (GRCm39) missense possibly damaging 0.55
IGL01919:Alms1 APN 6 85,604,986 (GRCm39) missense possibly damaging 0.77
IGL01976:Alms1 APN 6 85,599,647 (GRCm39) missense possibly damaging 0.73
IGL02003:Alms1 APN 6 85,599,205 (GRCm39) missense possibly damaging 0.54
IGL02069:Alms1 APN 6 85,605,805 (GRCm39) missense probably benign 0.12
IGL02070:Alms1 APN 6 85,628,385 (GRCm39) missense possibly damaging 0.74
IGL02079:Alms1 APN 6 85,605,616 (GRCm39) missense probably damaging 0.98
IGL02081:Alms1 APN 6 85,597,285 (GRCm39) missense possibly damaging 0.55
IGL02379:Alms1 APN 6 85,606,615 (GRCm39) missense probably damaging 0.98
IGL02412:Alms1 APN 6 85,605,854 (GRCm39) missense possibly damaging 0.91
IGL02606:Alms1 APN 6 85,576,949 (GRCm39) missense probably benign
IGL02636:Alms1 APN 6 85,605,636 (GRCm39) missense probably benign 0.28
IGL02702:Alms1 APN 6 85,576,831 (GRCm39) missense probably benign 0.12
IGL02815:Alms1 APN 6 85,644,939 (GRCm39) critical splice donor site probably null
IGL02926:Alms1 APN 6 85,618,432 (GRCm39) missense probably damaging 1.00
IGL02945:Alms1 APN 6 85,597,915 (GRCm39) missense probably damaging 0.96
IGL02959:Alms1 APN 6 85,606,034 (GRCm39) nonsense probably null
IGL03124:Alms1 APN 6 85,655,401 (GRCm39) missense probably benign 0.03
IGL03199:Alms1 APN 6 85,599,479 (GRCm39) missense possibly damaging 0.68
IGL03209:Alms1 APN 6 85,576,955 (GRCm39) splice site probably benign
IGL03247:Alms1 APN 6 85,655,579 (GRCm39) missense possibly damaging 0.85
ares UTSW 6 85,598,257 (GRCm39) nonsense probably null
ares2 UTSW 6 85,654,972 (GRCm39) nonsense probably null
butterball UTSW 6 85,673,753 (GRCm39) missense probably damaging 0.99
earthquake UTSW 6 85,605,717 (GRCm39) nonsense probably null
fatty UTSW 6 85,604,916 (GRCm39) nonsense probably null
gut_check UTSW 6 85,597,351 (GRCm39) nonsense probably null
portly UTSW 6 85,596,694 (GRCm39) missense probably benign 0.00
replete UTSW 6 85,606,190 (GRCm39) missense possibly damaging 0.87
PIT4468001:Alms1 UTSW 6 85,601,701 (GRCm39) critical splice donor site probably null
R0003:Alms1 UTSW 6 85,606,192 (GRCm39) missense possibly damaging 0.90
R0095:Alms1 UTSW 6 85,597,235 (GRCm39) missense possibly damaging 0.90
R0110:Alms1 UTSW 6 85,597,351 (GRCm39) nonsense probably null
R0114:Alms1 UTSW 6 85,596,785 (GRCm39) missense probably benign 0.00
R0153:Alms1 UTSW 6 85,618,363 (GRCm39) missense possibly damaging 0.94
R0217:Alms1 UTSW 6 85,599,912 (GRCm39) missense probably damaging 0.99
R0328:Alms1 UTSW 6 85,587,796 (GRCm39) splice site probably null
R0410:Alms1 UTSW 6 85,564,785 (GRCm39) missense unknown
R0469:Alms1 UTSW 6 85,597,351 (GRCm39) nonsense probably null
R0491:Alms1 UTSW 6 85,679,582 (GRCm39) missense probably damaging 0.98
R0510:Alms1 UTSW 6 85,597,351 (GRCm39) nonsense probably null
R0522:Alms1 UTSW 6 85,598,597 (GRCm39) missense probably benign
R0525:Alms1 UTSW 6 85,564,742 (GRCm39) missense unknown
R0611:Alms1 UTSW 6 85,655,653 (GRCm39) missense possibly damaging 0.61
R0637:Alms1 UTSW 6 85,600,015 (GRCm39) missense possibly damaging 0.85
R0718:Alms1 UTSW 6 85,598,803 (GRCm39) missense probably benign 0.00
R0831:Alms1 UTSW 6 85,605,502 (GRCm39) missense probably benign 0.00
R1318:Alms1 UTSW 6 85,605,531 (GRCm39) missense possibly damaging 0.62
R1340:Alms1 UTSW 6 85,644,939 (GRCm39) critical splice donor site probably null
R1561:Alms1 UTSW 6 85,606,034 (GRCm39) nonsense probably null
R1648:Alms1 UTSW 6 85,655,384 (GRCm39) missense probably damaging 0.99
R1697:Alms1 UTSW 6 85,599,436 (GRCm39) missense possibly damaging 0.94
R1699:Alms1 UTSW 6 85,599,862 (GRCm39) missense possibly damaging 0.46
R1715:Alms1 UTSW 6 85,606,034 (GRCm39) nonsense probably null
R1723:Alms1 UTSW 6 85,605,735 (GRCm39) missense probably damaging 1.00
R1734:Alms1 UTSW 6 85,618,532 (GRCm39) critical splice donor site probably null
R1758:Alms1 UTSW 6 85,605,487 (GRCm39) missense probably damaging 0.99
R1804:Alms1 UTSW 6 85,598,257 (GRCm39) nonsense probably null
R1835:Alms1 UTSW 6 85,655,485 (GRCm39) missense possibly damaging 0.94
R1836:Alms1 UTSW 6 85,655,485 (GRCm39) missense possibly damaging 0.94
R2077:Alms1 UTSW 6 85,599,291 (GRCm39) missense possibly damaging 0.93
R2246:Alms1 UTSW 6 85,599,949 (GRCm39) missense possibly damaging 0.91
R2254:Alms1 UTSW 6 85,596,830 (GRCm39) missense probably damaging 1.00
R2280:Alms1 UTSW 6 85,654,955 (GRCm39) missense probably damaging 0.99
R2516:Alms1 UTSW 6 85,644,945 (GRCm39) splice site probably benign
R2519:Alms1 UTSW 6 85,644,945 (GRCm39) splice site probably benign
R2566:Alms1 UTSW 6 85,599,464 (GRCm39) missense possibly damaging 0.84
R2850:Alms1 UTSW 6 85,644,945 (GRCm39) splice site probably benign
R2850:Alms1 UTSW 6 85,598,281 (GRCm39) missense probably benign 0.00
R2932:Alms1 UTSW 6 85,597,544 (GRCm39) missense possibly damaging 0.89
R2944:Alms1 UTSW 6 85,605,373 (GRCm39) missense probably damaging 1.00
R2980:Alms1 UTSW 6 85,605,817 (GRCm39) missense probably damaging 1.00
R3084:Alms1 UTSW 6 85,655,122 (GRCm39) missense probably benign
R3086:Alms1 UTSW 6 85,655,122 (GRCm39) missense probably benign
R3122:Alms1 UTSW 6 85,644,945 (GRCm39) splice site probably benign
R3404:Alms1 UTSW 6 85,644,945 (GRCm39) splice site probably benign
R3405:Alms1 UTSW 6 85,644,945 (GRCm39) splice site probably benign
R3804:Alms1 UTSW 6 85,596,629 (GRCm39) missense probably damaging 1.00
R3904:Alms1 UTSW 6 85,598,660 (GRCm39) missense probably benign 0.00
R4014:Alms1 UTSW 6 85,655,334 (GRCm39) missense probably benign 0.41
R4056:Alms1 UTSW 6 85,564,785 (GRCm39) missense unknown
R4067:Alms1 UTSW 6 85,598,271 (GRCm39) missense probably damaging 1.00
R4110:Alms1 UTSW 6 85,597,870 (GRCm39) missense probably benign 0.00
R4111:Alms1 UTSW 6 85,597,870 (GRCm39) missense probably benign 0.00
R4112:Alms1 UTSW 6 85,597,870 (GRCm39) missense probably benign 0.00
R4194:Alms1 UTSW 6 85,654,972 (GRCm39) nonsense probably null
R4464:Alms1 UTSW 6 85,597,003 (GRCm39) missense possibly damaging 0.66
R4539:Alms1 UTSW 6 85,597,460 (GRCm39) missense possibly damaging 0.78
R4554:Alms1 UTSW 6 85,601,599 (GRCm39) missense probably benign
R4696:Alms1 UTSW 6 85,597,504 (GRCm39) missense probably damaging 1.00
R4825:Alms1 UTSW 6 85,655,227 (GRCm39) missense probably damaging 0.99
R4921:Alms1 UTSW 6 85,605,528 (GRCm39) missense probably benign 0.13
R5030:Alms1 UTSW 6 85,604,946 (GRCm39) missense probably damaging 0.98
R5051:Alms1 UTSW 6 85,604,916 (GRCm39) nonsense probably null
R5085:Alms1 UTSW 6 85,597,714 (GRCm39) missense possibly damaging 0.55
R5141:Alms1 UTSW 6 85,598,414 (GRCm39) missense probably benign 0.01
R5233:Alms1 UTSW 6 85,633,353 (GRCm39) splice site probably null
R5310:Alms1 UTSW 6 85,592,350 (GRCm39) missense possibly damaging 0.79
R5344:Alms1 UTSW 6 85,673,771 (GRCm39) missense probably benign 0.04
R5394:Alms1 UTSW 6 85,600,070 (GRCm39) missense probably benign 0.01
R5460:Alms1 UTSW 6 85,673,713 (GRCm39) missense probably benign 0.08
R5558:Alms1 UTSW 6 85,618,311 (GRCm39) nonsense probably null
R5650:Alms1 UTSW 6 85,597,253 (GRCm39) missense probably damaging 1.00
R5667:Alms1 UTSW 6 85,673,753 (GRCm39) missense probably damaging 0.99
R5671:Alms1 UTSW 6 85,606,190 (GRCm39) missense possibly damaging 0.87
R5688:Alms1 UTSW 6 85,576,877 (GRCm39) missense possibly damaging 0.92
R5815:Alms1 UTSW 6 85,599,820 (GRCm39) missense probably damaging 0.99
R5892:Alms1 UTSW 6 85,597,885 (GRCm39) missense probably damaging 0.99
R5947:Alms1 UTSW 6 85,596,694 (GRCm39) missense probably benign 0.00
R6031:Alms1 UTSW 6 85,599,937 (GRCm39) missense probably damaging 1.00
R6031:Alms1 UTSW 6 85,599,937 (GRCm39) missense probably damaging 1.00
R6144:Alms1 UTSW 6 85,600,056 (GRCm39) missense probably damaging 0.98
R6258:Alms1 UTSW 6 85,605,717 (GRCm39) nonsense probably null
R6260:Alms1 UTSW 6 85,605,717 (GRCm39) nonsense probably null
R6455:Alms1 UTSW 6 85,673,639 (GRCm39) missense probably damaging 0.99
R6569:Alms1 UTSW 6 85,618,321 (GRCm39) missense probably benign 0.07
R6637:Alms1 UTSW 6 85,596,716 (GRCm39) missense possibly damaging 0.78
R6866:Alms1 UTSW 6 85,598,080 (GRCm39) missense possibly damaging 0.85
R6918:Alms1 UTSW 6 85,599,643 (GRCm39) missense possibly damaging 0.87
R7121:Alms1 UTSW 6 85,601,604 (GRCm39) missense probably damaging 1.00
R7179:Alms1 UTSW 6 85,598,351 (GRCm39) missense probably benign 0.09
R7334:Alms1 UTSW 6 85,618,432 (GRCm39) missense probably damaging 0.99
R7376:Alms1 UTSW 6 85,599,088 (GRCm39) missense probably benign 0.10
R7394:Alms1 UTSW 6 85,599,205 (GRCm39) missense possibly damaging 0.54
R7413:Alms1 UTSW 6 85,605,288 (GRCm39) missense probably benign 0.03
R7511:Alms1 UTSW 6 85,586,407 (GRCm39) missense unknown
R7542:Alms1 UTSW 6 85,606,344 (GRCm39) missense possibly damaging 0.62
R7562:Alms1 UTSW 6 85,597,394 (GRCm39) missense probably damaging 1.00
R7575:Alms1 UTSW 6 85,599,141 (GRCm39) missense possibly damaging 0.49
R7577:Alms1 UTSW 6 85,592,302 (GRCm39) missense probably benign 0.09
R7618:Alms1 UTSW 6 85,655,399 (GRCm39) missense probably benign 0.07
R7653:Alms1 UTSW 6 85,597,577 (GRCm39) missense possibly damaging 0.47
R7672:Alms1 UTSW 6 85,592,333 (GRCm39) missense probably damaging 1.00
R7807:Alms1 UTSW 6 85,599,958 (GRCm39) missense possibly damaging 0.91
R7815:Alms1 UTSW 6 85,592,340 (GRCm39) missense probably benign 0.42
R7849:Alms1 UTSW 6 85,598,479 (GRCm39) missense possibly damaging 0.48
R7944:Alms1 UTSW 6 85,618,362 (GRCm39) missense probably benign 0.03
R7954:Alms1 UTSW 6 85,598,144 (GRCm39) missense probably damaging 0.98
R7971:Alms1 UTSW 6 85,605,661 (GRCm39) missense probably benign
R8048:Alms1 UTSW 6 85,618,316 (GRCm39) missense probably benign 0.13
R8223:Alms1 UTSW 6 85,620,222 (GRCm39) nonsense probably null
R8332:Alms1 UTSW 6 85,597,561 (GRCm39) missense probably benign 0.05
R8374:Alms1 UTSW 6 85,585,973 (GRCm39) missense probably benign 0.41
R8470:Alms1 UTSW 6 85,618,357 (GRCm39) missense probably damaging 0.99
R8755:Alms1 UTSW 6 85,598,556 (GRCm39) missense probably benign 0.01
R8979:Alms1 UTSW 6 85,598,009 (GRCm39) missense probably damaging 0.98
R9044:Alms1 UTSW 6 85,673,735 (GRCm39) missense probably damaging 0.98
R9057:Alms1 UTSW 6 85,586,814 (GRCm39) missense unknown
R9224:Alms1 UTSW 6 85,598,770 (GRCm39) missense possibly damaging 0.69
R9259:Alms1 UTSW 6 85,644,873 (GRCm39) missense possibly damaging 0.94
R9401:Alms1 UTSW 6 85,655,001 (GRCm39) nonsense probably null
R9459:Alms1 UTSW 6 85,604,946 (GRCm39) missense probably damaging 0.98
R9633:Alms1 UTSW 6 85,600,125 (GRCm39) missense probably damaging 0.99
R9716:Alms1 UTSW 6 85,578,234 (GRCm39) missense possibly damaging 0.84
R9730:Alms1 UTSW 6 85,606,420 (GRCm39) missense probably benign 0.00
R9790:Alms1 UTSW 6 85,596,425 (GRCm39) missense probably benign 0.04
R9791:Alms1 UTSW 6 85,596,425 (GRCm39) missense probably benign 0.04
R9802:Alms1 UTSW 6 85,606,220 (GRCm39) missense possibly damaging 0.61
X0013:Alms1 UTSW 6 85,633,437 (GRCm39) missense probably damaging 1.00
X0025:Alms1 UTSW 6 85,597,192 (GRCm39) missense probably damaging 0.96
Z1176:Alms1 UTSW 6 85,655,400 (GRCm39) missense probably benign 0.41
Posted On 2015-04-16