Incidental Mutation 'IGL02702:Alms1'
ID 304184
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 # IGL02702
Quality Score
Status
Chromosome 6
Chromosomal Location 85564513-85679735 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85576831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 129 (V129A)
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: V129A

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000071904
Gene: ENSMUSG00000063810
AA Change: V129A

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 unknown
Transcript: ENSMUST00000213058
AA Change: V129A
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 C T 6: 88,815,120 (GRCm39) V337I probably benign Het
Adam11 G A 11: 102,667,864 (GRCm39) V750I probably benign Het
Cacna1d T A 14: 29,845,490 (GRCm39) K560* probably null Het
Cntn1 A G 15: 92,189,482 (GRCm39) probably benign Het
Cpne2 T C 8: 95,296,651 (GRCm39) V530A probably benign Het
Fbxo21 T C 5: 118,138,575 (GRCm39) L507P probably damaging Het
Fndc4 T C 5: 31,451,079 (GRCm39) K204R probably damaging Het
Gnrhr G T 5: 86,330,128 (GRCm39) N297K possibly damaging Het
Grin2b A G 6: 135,716,130 (GRCm39) F729S probably damaging Het
Hdac3 C A 18: 38,074,147 (GRCm39) R359L probably benign Het
Met T C 6: 17,534,142 (GRCm39) S662P possibly damaging Het
Mphosph9 T A 5: 124,398,052 (GRCm39) E1081D probably damaging Het
Mycbp2 T G 14: 103,457,560 (GRCm39) T1546P probably benign Het
Nlrp9a T A 7: 26,264,381 (GRCm39) M767K possibly damaging Het
Olfm5 A G 7: 103,803,564 (GRCm39) Y300H probably damaging Het
Or8b47 T A 9: 38,435,856 (GRCm39) V276D probably damaging Het
Pcf11 A T 7: 92,310,826 (GRCm39) N178K possibly damaging Het
Polr3a T C 14: 24,520,945 (GRCm39) I571M probably benign Het
Ppef2 T A 5: 92,379,678 (GRCm39) R557W probably benign Het
Prelid3a T A 18: 67,606,864 (GRCm39) D85E probably damaging Het
Rb1cc1 A G 1: 6,310,247 (GRCm39) E215G probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Recql4 C T 15: 76,591,485 (GRCm39) G501R probably damaging Het
Sema3e T C 5: 14,283,740 (GRCm39) probably benign Het
Shisa6 A C 11: 66,110,788 (GRCm39) L318V probably damaging Het
Slu7 T C 11: 43,329,719 (GRCm39) probably benign Het
Spink12 T C 18: 44,237,836 (GRCm39) V38A probably benign Het
Syne2 A G 12: 76,144,698 (GRCm39) D1549G probably damaging Het
Tet1 A G 10: 62,715,531 (GRCm39) V88A possibly damaging Het
Tmem200a C T 10: 25,869,501 (GRCm39) G256D probably damaging Het
Ttn G T 2: 76,714,835 (GRCm39) probably benign Het
Ugt2b34 T C 5: 87,040,750 (GRCm39) I391V probably benign Het
Zfp292 A T 4: 34,809,415 (GRCm39) L1215I probably benign Het
Zfp410 C A 12: 84,372,550 (GRCm39) N125K 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
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