Incidental Mutation 'R4056:Alms1'
ID 314241
Institutional Source Beutler Lab
Gene Symbol Alms1
Ensembl Gene ENSMUSG00000063810
Gene Name ALMS1, centrosome and basal body associated
Synonyms Alstrom syndrome 1
MMRRC Submission 041617-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4056 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 85564513-85679735 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85564785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 53 (E53G)
Ref Sequence ENSEMBL: ENSMUSP00000148796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072018] [ENSMUST00000213058]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000072018
AA Change: E53G
SMART Domains Protein: ENSMUSP00000071904
Gene: ENSMUSG00000063810
AA Change: E53G

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: E53G
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (39/39)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik T A 11: 80,266,329 (GRCm39) probably benign Het
Abcf1 A G 17: 36,270,807 (GRCm39) I510T possibly damaging Het
Adamts18 T A 8: 114,464,212 (GRCm39) K749* probably null Het
Bmper A G 9: 23,310,925 (GRCm39) H453R probably benign Het
Btg1 T A 10: 96,454,216 (GRCm39) M1K probably null Het
Cfap91 A G 16: 38,118,576 (GRCm39) V741A probably benign Het
Cntfr A G 4: 41,658,900 (GRCm39) I277T probably damaging Het
Col6a4 C A 9: 105,903,665 (GRCm39) R1642I probably damaging Het
Ctnna3 T C 10: 64,838,347 (GRCm39) I808T probably damaging Het
Cyp1a1 T A 9: 57,607,432 (GRCm39) V20D probably benign Het
Dnah17 T C 11: 117,961,364 (GRCm39) T2554A probably benign Het
Fcgbp A T 7: 27,803,541 (GRCm39) Q1715L probably benign Het
Gabarapl1 T C 6: 129,515,593 (GRCm39) F77S probably damaging Het
Gvin3 G T 7: 106,203,216 (GRCm39) D9E possibly damaging Het
Hpse2 T C 19: 43,282,714 (GRCm39) K180E probably damaging Het
Hs3st2 T A 7: 121,099,925 (GRCm39) L257Q probably damaging Het
Ighv1-18 T C 12: 114,646,287 (GRCm39) T106A probably benign Het
Ints2 A C 11: 86,133,778 (GRCm39) L424R probably damaging Het
Iqgap2 A G 13: 95,886,541 (GRCm39) V114A probably damaging Het
Kalrn A T 16: 34,134,579 (GRCm39) I401N probably damaging Het
Mast2 T A 4: 116,194,698 (GRCm39) probably benign Het
Myo18a A G 11: 77,702,839 (GRCm39) E5G possibly damaging Het
Nav3 A T 10: 109,716,394 (GRCm39) probably null Het
Net1 G A 13: 3,934,949 (GRCm39) T359I probably damaging Het
Pcsk9 T A 4: 106,301,899 (GRCm39) H616L probably benign Het
Plekha5 G T 6: 140,534,958 (GRCm39) V597L possibly damaging Het
Plekhg3 T A 12: 76,612,021 (GRCm39) I374N probably damaging Het
Pros1 A T 16: 62,721,008 (GRCm39) R188* probably null Het
Rhbg C T 3: 88,150,755 (GRCm39) V434I probably damaging Het
Rims1 A G 1: 22,363,163 (GRCm39) probably benign Het
Rxfp2 T C 5: 149,975,098 (GRCm39) probably null Het
Sbf2 T C 7: 110,040,673 (GRCm39) I385V probably damaging Het
Slc22a23 A C 13: 34,482,987 (GRCm39) Y181* probably null Het
Spata31 T A 13: 65,069,469 (GRCm39) V539E probably benign Het
Trpv5 G A 6: 41,636,639 (GRCm39) R436C probably damaging Het
Vmn1r13 G A 6: 57,186,970 (GRCm39) C43Y probably benign Het
Wif1 G A 10: 120,918,099 (GRCm39) V156I probably benign Het
Zfyve16 T C 13: 92,641,057 (GRCm39) N1229S 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
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
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
Predicted Primers PCR Primer
(F):5'- GAGGTCTAGTGACGCTCTTC -3'
(R):5'- TCAGTCTTGCCCAGATGCTC -3'

Sequencing Primer
(F):5'- TCTTCCAAAGGCGCCTG -3'
(R):5'- AGATGCTCCACTGGGGTGTAC -3'
Posted On 2015-04-30