Incidental Mutation 'IGL02081:Alms1'
ID 192582
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 # IGL02081
Quality Score
Status
Chromosome 6
Chromosomal Location 85564513-85679735 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85597285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 1173 (C1173S)
Ref Sequence ENSEMBL: ENSMUSP00000148796 (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: C704S

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000071904
Gene: ENSMUSG00000063810
AA Change: C704S

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 possibly damaging
Transcript: ENSMUST00000213058
AA Change: C1173S

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a G T 8: 44,023,233 (GRCm39) L86I probably damaging Het
Adamts17 C T 7: 66,711,858 (GRCm39) R726C probably damaging Het
Aff1 A G 5: 103,982,171 (GRCm39) K778R probably damaging Het
Agr2 G A 12: 36,045,655 (GRCm39) probably null Het
Apol7b A G 15: 77,307,736 (GRCm39) L253P possibly damaging Het
Atp10a A T 7: 58,477,604 (GRCm39) T1268S possibly damaging Het
Atr A T 9: 95,765,258 (GRCm39) K1149N probably damaging Het
Bri3bp G A 5: 125,518,961 (GRCm39) probably null Het
Ccser1 T A 6: 61,288,152 (GRCm39) L105* probably null Het
Cyp4a10 G A 4: 115,378,369 (GRCm39) A152T possibly damaging Het
Dock2 C T 11: 34,204,355 (GRCm39) D1396N probably benign Het
Ext1 A T 15: 52,936,842 (GRCm39) Y634* probably null Het
Fbh1 T C 2: 11,768,938 (GRCm39) D285G probably benign Het
Gcn1 A G 5: 115,723,930 (GRCm39) K529E probably damaging Het
H2-Q2 A G 17: 35,561,684 (GRCm39) D58G probably damaging Het
Hid1 T C 11: 115,239,332 (GRCm39) D776G possibly damaging Het
Il18r1 A T 1: 40,537,665 (GRCm39) S477C probably damaging Het
Irag1 T C 7: 110,523,281 (GRCm39) probably null Het
Jmjd1c T G 10: 67,055,305 (GRCm39) F242V probably benign Het
Krtap4-1 G A 11: 99,519,010 (GRCm39) probably benign Het
Mms19 A G 19: 41,938,418 (GRCm39) probably null Het
Mpdz T C 4: 81,254,106 (GRCm39) T1009A probably damaging Het
Mrpl22 T C 11: 58,062,647 (GRCm39) I19T probably benign Het
Nup88 A G 11: 70,845,480 (GRCm39) probably benign Het
Or5b94 A T 19: 12,652,180 (GRCm39) I204F probably benign Het
Pnpo T C 11: 96,830,150 (GRCm39) Y183C probably damaging Het
Poln C T 5: 34,286,483 (GRCm39) M228I probably benign Het
Scara5 T C 14: 65,968,104 (GRCm39) W126R possibly damaging Het
Scmh1 T G 4: 120,372,275 (GRCm39) C359W probably damaging Het
Snrpn T C 7: 59,637,194 (GRCm39) I41V possibly damaging Het
St8sia1 T C 6: 142,774,953 (GRCm39) M209V probably benign Het
Stard9 T A 2: 120,495,391 (GRCm39) S89T probably damaging Het
Tet1 T C 10: 62,649,597 (GRCm39) T1667A probably damaging Het
Tmem217 C T 17: 29,745,347 (GRCm39) G128S probably damaging Het
Ttpal A G 2: 163,457,308 (GRCm39) N260S probably benign Het
Vwa2 A G 19: 56,890,668 (GRCm39) D233G probably benign Het
Wdr83 A G 8: 85,802,472 (GRCm39) F258L probably benign Het
Zfp277 A T 12: 40,378,795 (GRCm39) L354* probably null Het
Zfp516 A G 18: 82,973,858 (GRCm39) R19G probably benign 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
IGL01720: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
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 2014-05-14