Incidental Mutation 'IGL02926:Alms1'
ID 363878
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 # IGL02926
Quality Score
Status
Chromosome 6
Chromosomal Location 85564513-85679735 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85618432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 2826 (D2826V)
Ref Sequence ENSEMBL: ENSMUSP00000148796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072018] [ENSMUST00000213058]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000072018
AA Change: D2357V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000071904
Gene: ENSMUSG00000063810
AA Change: D2357V

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: ENSMUST00000201244
Predicted Effect probably damaging
Transcript: ENSMUST00000213058
AA Change: D2826V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpl C T 4: 137,469,945 (GRCm39) A460T probably damaging Het
C2cd5 A G 6: 142,976,963 (GRCm39) probably benign Het
C4b C T 17: 34,949,686 (GRCm39) R1468Q possibly damaging Het
Calu A G 6: 29,366,919 (GRCm39) T44A possibly damaging Het
Cgn T C 3: 94,685,326 (GRCm39) K399R probably benign Het
Ciao3 A G 17: 26,001,128 (GRCm39) H460R probably benign Het
Cyp2t4 G A 7: 26,857,228 (GRCm39) V356M probably damaging Het
D430041D05Rik T C 2: 104,044,604 (GRCm39) D683G probably damaging Het
Dhcr24 T A 4: 106,443,552 (GRCm39) I410N probably damaging Het
Dmap1 T A 4: 117,539,085 (GRCm39) E17V probably benign Het
Dnaaf9 C T 2: 130,554,286 (GRCm39) R921K probably benign Het
Dnah7a A G 1: 53,535,109 (GRCm39) I2717T possibly damaging Het
Epb41l3 G T 17: 69,554,741 (GRCm39) K280N probably damaging Het
Espl1 T A 15: 102,208,290 (GRCm39) M432K probably damaging Het
Fgf5 C A 5: 98,409,874 (GRCm39) A141E probably damaging Het
Fto T A 8: 92,211,795 (GRCm39) F373L probably damaging Het
Gpatch1 T C 7: 35,007,694 (GRCm39) D122G probably damaging Het
Ints11 T C 4: 155,972,568 (GRCm39) probably null Het
Jarid2 A G 13: 45,056,405 (GRCm39) Q398R probably benign Het
Kcnh1 A G 1: 191,959,208 (GRCm39) D254G probably damaging Het
Lamc3 C T 2: 31,825,737 (GRCm39) probably benign Het
Lamc3 C T 2: 31,825,738 (GRCm39) probably benign Het
Ltbp4 T C 7: 27,028,297 (GRCm39) probably null Het
Mcm6 A G 1: 128,267,119 (GRCm39) Y575H probably damaging Het
Myh9 A C 15: 77,671,826 (GRCm39) Y422D probably damaging Het
Or4c35 T C 2: 89,808,506 (GRCm39) L128P probably damaging Het
Or5b105 A C 19: 13,080,187 (GRCm39) N160K possibly damaging Het
Or8b47 T C 9: 38,435,021 (GRCm39) probably benign Het
Plcb1 T C 2: 135,206,682 (GRCm39) probably benign Het
Pmfbp1 A G 8: 110,246,881 (GRCm39) E251G probably damaging Het
Psg27 A T 7: 18,291,054 (GRCm39) V383E probably damaging Het
Ptprn A T 1: 75,224,517 (GRCm39) H946Q possibly damaging Het
Rbl1 A G 2: 157,009,333 (GRCm39) V734A probably benign Het
Rspry1 T A 8: 95,376,439 (GRCm39) N320K probably damaging Het
Ryr1 A T 7: 28,760,965 (GRCm39) V3219D probably damaging Het
Ryr2 C A 13: 11,774,721 (GRCm39) W1145L probably damaging Het
Scel A T 14: 103,813,683 (GRCm39) R319* probably null Het
Stxbp2 C T 8: 3,685,629 (GRCm39) T226I probably benign Het
Tac1 A T 6: 7,562,410 (GRCm39) N106I possibly damaging Het
Trim13 G T 14: 61,842,693 (GRCm39) probably null Het
Tspan31 T G 10: 126,904,778 (GRCm39) probably null Het
Usp36 C T 11: 118,155,609 (GRCm39) V723M probably benign Het
Utrn A T 10: 12,566,504 (GRCm39) N1219K probably damaging Het
Vcan G T 13: 89,836,742 (GRCm39) T2934K probably 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
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
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
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 2015-12-18