Incidental Mutation 'R4111:Alms1'
ID 317302
Institutional Source Beutler Lab
Gene Symbol Alms1
Ensembl Gene ENSMUSG00000063810
Gene Name ALMS1, centrosome and basal body associated
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4111 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 85587531-85702753 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 85620888 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 1368 (V1368I)
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: V899I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000071904
Gene: ENSMUSG00000063810
AA Change: V899I

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 probably benign
Transcript: ENSMUST00000213058
AA Change: V1368I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 96.0%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,794,154 C172* probably null Het
Acot10 A T 15: 20,666,526 L43Q probably damaging Het
Ambra1 T C 2: 91,900,558 S894P probably damaging Het
Arhgef12 C A 9: 42,972,274 G1320C probably damaging Het
Atg7 G C 6: 114,713,294 G596R probably damaging Het
AY761184 T C 8: 21,702,663 T106A possibly damaging Het
Birc6 T C 17: 74,566,015 V423A probably damaging Het
Cdh17 T C 4: 11,814,628 S728P probably damaging Het
Ctu2 G A 8: 122,476,517 R24Q possibly damaging Het
Dclk3 T C 9: 111,469,080 I564T probably damaging Het
Ddx39b T A 17: 35,243,364 I42N possibly damaging Het
Dip2c G T 13: 9,637,101 G1254C probably damaging Het
Dzip1 T A 14: 118,877,233 K837* probably null Het
Epha1 G A 6: 42,358,838 T955M possibly damaging Het
Etfbkmt T C 6: 149,144,591 probably benign Het
Etfrf1 T C 6: 145,215,372 Y23H probably damaging Het
Fat3 G A 9: 15,998,271 S2145F probably damaging Het
Gm12355 A T 11: 98,625,397 V50D probably damaging Het
Gm5611 T A 9: 17,030,693 noncoding transcript Het
Gpr37l1 T C 1: 135,167,270 T79A possibly damaging Het
Hrh3 C A 2: 180,102,850 R99L possibly damaging Het
Hyls1 T A 9: 35,561,418 Y234F probably damaging Het
Ifnar1 C A 16: 91,496,158 P230T probably damaging Het
Impact T C 18: 12,976,033 probably null Het
Kcna6 G C 6: 126,739,774 R51G probably damaging Het
Lrpprc G A 17: 84,726,338 T1037M probably benign Het
Olfr1239 C A 2: 89,418,100 L104F probably benign Het
Olfr1440 T C 19: 12,394,301 F13L probably damaging Het
Olfr430 T A 1: 174,069,433 I45N probably damaging Het
Olfr979 C A 9: 40,000,898 E110* probably null Het
Pask A G 1: 93,310,818 V1315A probably damaging Het
Pramef25 T A 4: 143,949,905 I210F possibly damaging Het
Prl7a2 A T 13: 27,665,067 Y80N possibly damaging Het
Rhox3f G T X: 37,582,019 E140* probably null Het
Rtn2 T C 7: 19,286,844 S81P probably damaging Het
Sbf2 G A 7: 110,428,242 P470S probably damaging Het
Sec31b G T 19: 44,524,529 T507N possibly damaging Het
Sox30 A G 11: 46,017,214 Y736C probably benign Het
Synj2 G A 17: 6,007,965 G243S probably benign Het
Tbr1 C T 2: 61,811,732 P184L probably benign Het
Tns1 T C 1: 73,941,932 N1091S probably damaging Het
Trappc10 A G 10: 78,196,430 F1008S probably benign Het
Ube4a T A 9: 44,948,949 I272F probably damaging Het
Uhrf1bp1 T A 17: 27,886,090 L586* probably null Het
Vmn1r122 A T 7: 21,133,513 S206T probably damaging Het
Vmn2r1 A C 3: 64,089,755 K277N probably benign Het
Vps13a T C 19: 16,640,628 E2931G probably damaging Het
Wdr70 G T 15: 7,976,991 Q360K probably benign Het
Wdr90 G T 17: 25,849,368 Q1329K possibly damaging Het
Wrn T C 8: 33,352,155 N37S probably benign Het
Yap1 A T 9: 7,938,431 *358K probably null Het
Zfp964 T A 8: 69,664,104 S450R probably benign Het
Zkscan2 T C 7: 123,482,684 probably benign Het
Zmynd10 A T 9: 107,549,052 K133* probably null Het
Other mutations in Alms1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Alms1 APN 6 85,677,964 (GRCm38) missense probably damaging 1.00
IGL00331:Alms1 APN 6 85,641,371 (GRCm38) missense possibly damaging 0.94
IGL00658:Alms1 APN 6 85,628,961 (GRCm38) missense probably damaging 1.00
IGL00835:Alms1 APN 6 85,622,134 (GRCm38) missense probably damaging 1.00
IGL00930:Alms1 APN 6 85,601,310 (GRCm38) missense probably damaging 0.98
IGL01446:Alms1 APN 6 85,696,701 (GRCm38) missense probably damaging 1.00
IGL01448:Alms1 APN 6 85,677,899 (GRCm38) missense possibly damaging 0.93
IGL01563:Alms1 APN 6 85,627,983 (GRCm38) missense probably damaging 1.00
IGL01632:Alms1 APN 6 85,627,946 (GRCm38) missense probably benign 0.07
IGL01651:Alms1 APN 6 85,656,476 (GRCm38) missense probably benign 0.05
IGL01670:Alms1 APN 6 85,678,150 (GRCm38) missense probably benign 0.00
IGL01716:Alms1 APN 6 85,628,094 (GRCm38) missense probably benign 0.01
IGL01719:Alms1 APN 6 85,628,094 (GRCm38) missense probably benign 0.01
IGL01720:Alms1 APN 6 85,628,094 (GRCm38) missense probably benign 0.01
IGL01723:Alms1 APN 6 85,628,094 (GRCm38) missense probably benign 0.01
IGL01877:Alms1 APN 6 85,622,411 (GRCm38) missense possibly damaging 0.55
IGL01919:Alms1 APN 6 85,628,004 (GRCm38) missense possibly damaging 0.77
IGL01976:Alms1 APN 6 85,622,665 (GRCm38) missense possibly damaging 0.73
IGL02003:Alms1 APN 6 85,622,223 (GRCm38) missense possibly damaging 0.54
IGL02069:Alms1 APN 6 85,628,823 (GRCm38) missense probably benign 0.12
IGL02070:Alms1 APN 6 85,651,403 (GRCm38) missense possibly damaging 0.74
IGL02079:Alms1 APN 6 85,628,634 (GRCm38) missense probably damaging 0.98
IGL02081:Alms1 APN 6 85,620,303 (GRCm38) missense possibly damaging 0.55
IGL02379:Alms1 APN 6 85,629,633 (GRCm38) missense probably damaging 0.98
IGL02412:Alms1 APN 6 85,628,872 (GRCm38) missense possibly damaging 0.91
IGL02606:Alms1 APN 6 85,599,967 (GRCm38) missense probably benign
IGL02636:Alms1 APN 6 85,628,654 (GRCm38) missense probably benign 0.28
IGL02702:Alms1 APN 6 85,599,849 (GRCm38) missense probably benign 0.12
IGL02815:Alms1 APN 6 85,667,957 (GRCm38) critical splice donor site probably null
IGL02926:Alms1 APN 6 85,641,450 (GRCm38) missense probably damaging 1.00
IGL02945:Alms1 APN 6 85,620,933 (GRCm38) missense probably damaging 0.96
IGL02959:Alms1 APN 6 85,629,052 (GRCm38) nonsense probably null
IGL03124:Alms1 APN 6 85,678,419 (GRCm38) missense probably benign 0.03
IGL03199:Alms1 APN 6 85,622,497 (GRCm38) missense possibly damaging 0.68
IGL03209:Alms1 APN 6 85,599,973 (GRCm38) splice site probably benign
IGL03247:Alms1 APN 6 85,678,597 (GRCm38) missense possibly damaging 0.85
ares UTSW 6 85,621,275 (GRCm38) nonsense probably null
ares2 UTSW 6 85,677,990 (GRCm38) nonsense probably null
butterball UTSW 6 85,696,771 (GRCm38) missense probably damaging 0.99
earthquake UTSW 6 85,628,735 (GRCm38) nonsense probably null
fatty UTSW 6 85,627,934 (GRCm38) nonsense probably null
gut_check UTSW 6 85,620,369 (GRCm38) nonsense probably null
portly UTSW 6 85,619,712 (GRCm38) missense probably benign 0.00
replete UTSW 6 85,629,208 (GRCm38) missense possibly damaging 0.87
PIT4468001:Alms1 UTSW 6 85,624,719 (GRCm38) critical splice donor site probably null
R0003:Alms1 UTSW 6 85,629,210 (GRCm38) missense possibly damaging 0.90
R0095:Alms1 UTSW 6 85,620,253 (GRCm38) missense possibly damaging 0.90
R0110:Alms1 UTSW 6 85,620,369 (GRCm38) nonsense probably null
R0114:Alms1 UTSW 6 85,619,803 (GRCm38) missense probably benign 0.00
R0153:Alms1 UTSW 6 85,641,381 (GRCm38) missense possibly damaging 0.94
R0217:Alms1 UTSW 6 85,622,930 (GRCm38) missense probably damaging 0.99
R0328:Alms1 UTSW 6 85,610,814 (GRCm38) splice site probably null
R0410:Alms1 UTSW 6 85,587,803 (GRCm38) missense unknown
R0469:Alms1 UTSW 6 85,620,369 (GRCm38) nonsense probably null
R0491:Alms1 UTSW 6 85,702,600 (GRCm38) missense probably damaging 0.98
R0510:Alms1 UTSW 6 85,620,369 (GRCm38) nonsense probably null
R0522:Alms1 UTSW 6 85,621,615 (GRCm38) missense probably benign
R0525:Alms1 UTSW 6 85,587,760 (GRCm38) missense unknown
R0611:Alms1 UTSW 6 85,678,671 (GRCm38) missense possibly damaging 0.61
R0637:Alms1 UTSW 6 85,623,033 (GRCm38) missense possibly damaging 0.85
R0718:Alms1 UTSW 6 85,621,821 (GRCm38) missense probably benign 0.00
R0831:Alms1 UTSW 6 85,628,520 (GRCm38) missense probably benign 0.00
R1318:Alms1 UTSW 6 85,628,549 (GRCm38) missense possibly damaging 0.62
R1340:Alms1 UTSW 6 85,667,957 (GRCm38) critical splice donor site probably null
R1561:Alms1 UTSW 6 85,629,052 (GRCm38) nonsense probably null
R1648:Alms1 UTSW 6 85,678,402 (GRCm38) missense probably damaging 0.99
R1697:Alms1 UTSW 6 85,622,454 (GRCm38) missense possibly damaging 0.94
R1699:Alms1 UTSW 6 85,622,880 (GRCm38) missense possibly damaging 0.46
R1715:Alms1 UTSW 6 85,629,052 (GRCm38) nonsense probably null
R1723:Alms1 UTSW 6 85,628,753 (GRCm38) missense probably damaging 1.00
R1734:Alms1 UTSW 6 85,641,550 (GRCm38) critical splice donor site probably null
R1758:Alms1 UTSW 6 85,628,505 (GRCm38) missense probably damaging 0.99
R1804:Alms1 UTSW 6 85,621,275 (GRCm38) nonsense probably null
R1835:Alms1 UTSW 6 85,678,503 (GRCm38) missense possibly damaging 0.94
R1836:Alms1 UTSW 6 85,678,503 (GRCm38) missense possibly damaging 0.94
R2077:Alms1 UTSW 6 85,622,309 (GRCm38) missense possibly damaging 0.93
R2246:Alms1 UTSW 6 85,622,967 (GRCm38) missense possibly damaging 0.91
R2254:Alms1 UTSW 6 85,619,848 (GRCm38) missense probably damaging 1.00
R2280:Alms1 UTSW 6 85,677,973 (GRCm38) missense probably damaging 0.99
R2516:Alms1 UTSW 6 85,667,963 (GRCm38) splice site probably benign
R2519:Alms1 UTSW 6 85,667,963 (GRCm38) splice site probably benign
R2566:Alms1 UTSW 6 85,622,482 (GRCm38) missense possibly damaging 0.84
R2850:Alms1 UTSW 6 85,667,963 (GRCm38) splice site probably benign
R2850:Alms1 UTSW 6 85,621,299 (GRCm38) missense probably benign 0.00
R2932:Alms1 UTSW 6 85,620,562 (GRCm38) missense possibly damaging 0.89
R2944:Alms1 UTSW 6 85,628,391 (GRCm38) missense probably damaging 1.00
R2980:Alms1 UTSW 6 85,628,835 (GRCm38) missense probably damaging 1.00
R3084:Alms1 UTSW 6 85,678,140 (GRCm38) missense probably benign
R3086:Alms1 UTSW 6 85,678,140 (GRCm38) missense probably benign
R3122:Alms1 UTSW 6 85,667,963 (GRCm38) splice site probably benign
R3404:Alms1 UTSW 6 85,667,963 (GRCm38) splice site probably benign
R3405:Alms1 UTSW 6 85,667,963 (GRCm38) splice site probably benign
R3804:Alms1 UTSW 6 85,619,647 (GRCm38) missense probably damaging 1.00
R3904:Alms1 UTSW 6 85,621,678 (GRCm38) missense probably benign 0.00
R4014:Alms1 UTSW 6 85,678,352 (GRCm38) missense probably benign 0.41
R4056:Alms1 UTSW 6 85,587,803 (GRCm38) missense unknown
R4067:Alms1 UTSW 6 85,621,289 (GRCm38) missense probably damaging 1.00
R4110:Alms1 UTSW 6 85,620,888 (GRCm38) missense probably benign 0.00
R4112:Alms1 UTSW 6 85,620,888 (GRCm38) missense probably benign 0.00
R4194:Alms1 UTSW 6 85,677,990 (GRCm38) nonsense probably null
R4464:Alms1 UTSW 6 85,620,021 (GRCm38) missense possibly damaging 0.66
R4539:Alms1 UTSW 6 85,620,478 (GRCm38) missense possibly damaging 0.78
R4554:Alms1 UTSW 6 85,624,617 (GRCm38) missense probably benign
R4696:Alms1 UTSW 6 85,620,522 (GRCm38) missense probably damaging 1.00
R4825:Alms1 UTSW 6 85,678,245 (GRCm38) missense probably damaging 0.99
R4921:Alms1 UTSW 6 85,628,546 (GRCm38) missense probably benign 0.13
R5030:Alms1 UTSW 6 85,627,964 (GRCm38) missense probably damaging 0.98
R5051:Alms1 UTSW 6 85,627,934 (GRCm38) nonsense probably null
R5085:Alms1 UTSW 6 85,620,732 (GRCm38) missense possibly damaging 0.55
R5141:Alms1 UTSW 6 85,621,432 (GRCm38) missense probably benign 0.01
R5233:Alms1 UTSW 6 85,656,371 (GRCm38) splice site probably null
R5310:Alms1 UTSW 6 85,615,368 (GRCm38) missense possibly damaging 0.79
R5344:Alms1 UTSW 6 85,696,789 (GRCm38) missense probably benign 0.04
R5394:Alms1 UTSW 6 85,623,088 (GRCm38) missense probably benign 0.01
R5460:Alms1 UTSW 6 85,696,731 (GRCm38) missense probably benign 0.08
R5558:Alms1 UTSW 6 85,641,329 (GRCm38) nonsense probably null
R5650:Alms1 UTSW 6 85,620,271 (GRCm38) missense probably damaging 1.00
R5667:Alms1 UTSW 6 85,696,771 (GRCm38) missense probably damaging 0.99
R5671:Alms1 UTSW 6 85,629,208 (GRCm38) missense possibly damaging 0.87
R5688:Alms1 UTSW 6 85,599,895 (GRCm38) missense possibly damaging 0.92
R5815:Alms1 UTSW 6 85,622,838 (GRCm38) missense probably damaging 0.99
R5892:Alms1 UTSW 6 85,620,903 (GRCm38) missense probably damaging 0.99
R5947:Alms1 UTSW 6 85,619,712 (GRCm38) missense probably benign 0.00
R6031:Alms1 UTSW 6 85,622,955 (GRCm38) missense probably damaging 1.00
R6031:Alms1 UTSW 6 85,622,955 (GRCm38) missense probably damaging 1.00
R6144:Alms1 UTSW 6 85,623,074 (GRCm38) missense probably damaging 0.98
R6258:Alms1 UTSW 6 85,628,735 (GRCm38) nonsense probably null
R6260:Alms1 UTSW 6 85,628,735 (GRCm38) nonsense probably null
R6455:Alms1 UTSW 6 85,696,657 (GRCm38) missense probably damaging 0.99
R6569:Alms1 UTSW 6 85,641,339 (GRCm38) missense probably benign 0.07
R6637:Alms1 UTSW 6 85,619,734 (GRCm38) missense possibly damaging 0.78
R6866:Alms1 UTSW 6 85,621,098 (GRCm38) missense possibly damaging 0.85
R6918:Alms1 UTSW 6 85,622,661 (GRCm38) missense possibly damaging 0.87
R7121:Alms1 UTSW 6 85,624,622 (GRCm38) missense probably damaging 1.00
R7179:Alms1 UTSW 6 85,621,369 (GRCm38) missense probably benign 0.09
R7334:Alms1 UTSW 6 85,641,450 (GRCm38) missense probably damaging 0.99
R7376:Alms1 UTSW 6 85,622,106 (GRCm38) missense probably benign 0.10
R7394:Alms1 UTSW 6 85,622,223 (GRCm38) missense possibly damaging 0.54
R7413:Alms1 UTSW 6 85,628,306 (GRCm38) missense probably benign 0.03
R7511:Alms1 UTSW 6 85,609,425 (GRCm38) missense unknown
R7542:Alms1 UTSW 6 85,629,362 (GRCm38) missense possibly damaging 0.62
R7562:Alms1 UTSW 6 85,620,412 (GRCm38) missense probably damaging 1.00
R7575:Alms1 UTSW 6 85,622,159 (GRCm38) missense possibly damaging 0.49
R7577:Alms1 UTSW 6 85,615,320 (GRCm38) missense probably benign 0.09
R7618:Alms1 UTSW 6 85,678,417 (GRCm38) missense probably benign 0.07
R7653:Alms1 UTSW 6 85,620,595 (GRCm38) missense possibly damaging 0.47
R7672:Alms1 UTSW 6 85,615,351 (GRCm38) missense probably damaging 1.00
R7807:Alms1 UTSW 6 85,622,976 (GRCm38) missense possibly damaging 0.91
R7815:Alms1 UTSW 6 85,615,358 (GRCm38) missense probably benign 0.42
R7849:Alms1 UTSW 6 85,621,497 (GRCm38) missense possibly damaging 0.48
R7944:Alms1 UTSW 6 85,641,380 (GRCm38) missense probably benign 0.03
R7954:Alms1 UTSW 6 85,621,162 (GRCm38) missense probably damaging 0.98
R7971:Alms1 UTSW 6 85,628,679 (GRCm38) missense probably benign
R8048:Alms1 UTSW 6 85,641,334 (GRCm38) missense probably benign 0.13
R8223:Alms1 UTSW 6 85,643,240 (GRCm38) nonsense probably null
R8332:Alms1 UTSW 6 85,620,579 (GRCm38) missense probably benign 0.05
R8374:Alms1 UTSW 6 85,608,991 (GRCm38) missense probably benign 0.41
R8470:Alms1 UTSW 6 85,641,375 (GRCm38) missense probably damaging 0.99
R8755:Alms1 UTSW 6 85,621,574 (GRCm38) missense probably benign 0.01
R8979:Alms1 UTSW 6 85,621,027 (GRCm38) missense probably damaging 0.98
R9044:Alms1 UTSW 6 85,696,753 (GRCm38) missense probably damaging 0.98
R9057:Alms1 UTSW 6 85,609,832 (GRCm38) missense unknown
R9224:Alms1 UTSW 6 85,621,788 (GRCm38) missense possibly damaging 0.69
R9259:Alms1 UTSW 6 85,667,891 (GRCm38) missense possibly damaging 0.94
R9401:Alms1 UTSW 6 85,678,019 (GRCm38) nonsense probably null
R9459:Alms1 UTSW 6 85,627,964 (GRCm38) missense probably damaging 0.98
R9633:Alms1 UTSW 6 85,623,143 (GRCm38) missense probably damaging 0.99
R9716:Alms1 UTSW 6 85,601,252 (GRCm38) missense possibly damaging 0.84
R9730:Alms1 UTSW 6 85,629,438 (GRCm38) missense probably benign 0.00
R9790:Alms1 UTSW 6 85,619,443 (GRCm38) missense probably benign 0.04
R9791:Alms1 UTSW 6 85,619,443 (GRCm38) missense probably benign 0.04
R9802:Alms1 UTSW 6 85,629,238 (GRCm38) missense possibly damaging 0.61
X0013:Alms1 UTSW 6 85,656,455 (GRCm38) missense probably damaging 1.00
X0025:Alms1 UTSW 6 85,620,210 (GRCm38) missense probably damaging 0.96
Z1176:Alms1 UTSW 6 85,678,418 (GRCm38) missense probably benign 0.41
Predicted Primers
Posted On 2015-05-15