Incidental Mutation 'IGL00658:Alms1'
ID |
8802 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Alms1
|
Ensembl Gene |
ENSMUSG00000063810 |
Gene Name |
ALMS1, centrosome and basal body associated |
Synonyms |
|
Accession Numbers |
|
Is this an essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00658
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
85587531-85702753 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 85628961 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 2531
(E2531G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148796
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072018]
[ENSMUST00000213058]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072018
AA Change: E2062G
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000071904 Gene: ENSMUSG00000063810 AA Change: E2062G
Domain | Start | End | E-Value | Type |
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: ENSMUST00000201862
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000213058
AA Change: E2531G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; 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: 12 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
T |
A |
8: 43,568,903 |
M517L |
probably benign |
Het |
Apob |
A |
T |
12: 8,009,471 |
H2618L |
probably benign |
Het |
Cfap69 |
A |
T |
5: 5,625,857 |
D252E |
probably damaging |
Het |
Gm904 |
G |
T |
13: 50,644,722 |
A76S |
possibly damaging |
Het |
Kansl1 |
G |
A |
11: 104,357,526 |
T534I |
probably benign |
Het |
Ripor1 |
C |
T |
8: 105,618,117 |
|
probably benign |
Het |
Scn1a |
T |
C |
2: 66,286,038 |
Q1439R |
probably damaging |
Het |
Serpina3i |
T |
A |
12: 104,265,170 |
V22D |
possibly damaging |
Het |
Slc22a2 |
A |
T |
17: 12,615,315 |
D490V |
probably benign |
Het |
Tmem136 |
T |
C |
9: 43,113,491 |
I57V |
probably benign |
Het |
Ttn |
G |
A |
2: 76,897,272 |
|
probably benign |
Het |
Vegfc |
T |
C |
8: 54,156,948 |
|
probably benign |
Het |
|
Other mutations in Alms1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00227:Alms1
|
APN |
6 |
85677964 |
missense |
probably damaging |
1.00 |
IGL00331:Alms1
|
APN |
6 |
85641371 |
missense |
possibly damaging |
0.94 |
IGL00835:Alms1
|
APN |
6 |
85622134 |
missense |
probably damaging |
1.00 |
IGL00930:Alms1
|
APN |
6 |
85601310 |
missense |
probably damaging |
0.98 |
IGL01446:Alms1
|
APN |
6 |
85696701 |
missense |
probably damaging |
1.00 |
IGL01448:Alms1
|
APN |
6 |
85677899 |
missense |
possibly damaging |
0.93 |
IGL01563:Alms1
|
APN |
6 |
85627983 |
missense |
probably damaging |
1.00 |
IGL01632:Alms1
|
APN |
6 |
85627946 |
missense |
probably benign |
0.07 |
IGL01651:Alms1
|
APN |
6 |
85656476 |
missense |
probably benign |
0.05 |
IGL01670:Alms1
|
APN |
6 |
85678150 |
missense |
probably benign |
0.00 |
IGL01716:Alms1
|
APN |
6 |
85628094 |
missense |
probably benign |
0.01 |
IGL01719:Alms1
|
APN |
6 |
85628094 |
missense |
probably benign |
0.01 |
IGL01720:Alms1
|
APN |
6 |
85628094 |
missense |
probably benign |
0.01 |
IGL01723:Alms1
|
APN |
6 |
85628094 |
missense |
probably benign |
0.01 |
IGL01877:Alms1
|
APN |
6 |
85622411 |
missense |
possibly damaging |
0.55 |
IGL01919:Alms1
|
APN |
6 |
85628004 |
missense |
possibly damaging |
0.77 |
IGL01976:Alms1
|
APN |
6 |
85622665 |
missense |
possibly damaging |
0.73 |
IGL02003:Alms1
|
APN |
6 |
85622223 |
missense |
possibly damaging |
0.54 |
IGL02069:Alms1
|
APN |
6 |
85628823 |
missense |
probably benign |
0.12 |
IGL02070:Alms1
|
APN |
6 |
85651403 |
missense |
possibly damaging |
0.74 |
IGL02079:Alms1
|
APN |
6 |
85628634 |
missense |
probably damaging |
0.98 |
IGL02081:Alms1
|
APN |
6 |
85620303 |
missense |
possibly damaging |
0.55 |
IGL02379:Alms1
|
APN |
6 |
85629633 |
missense |
probably damaging |
0.98 |
IGL02412:Alms1
|
APN |
6 |
85628872 |
missense |
possibly damaging |
0.91 |
IGL02606:Alms1
|
APN |
6 |
85599967 |
missense |
probably benign |
|
IGL02636:Alms1
|
APN |
6 |
85628654 |
missense |
probably benign |
0.28 |
IGL02702:Alms1
|
APN |
6 |
85599849 |
missense |
probably benign |
0.12 |
IGL02815:Alms1
|
APN |
6 |
85667957 |
critical splice donor site |
probably null |
|
IGL02926:Alms1
|
APN |
6 |
85641450 |
missense |
probably damaging |
1.00 |
IGL02945:Alms1
|
APN |
6 |
85620933 |
missense |
probably damaging |
0.96 |
IGL02959:Alms1
|
APN |
6 |
85629052 |
nonsense |
probably null |
|
IGL03124:Alms1
|
APN |
6 |
85678419 |
missense |
probably benign |
0.03 |
IGL03199:Alms1
|
APN |
6 |
85622497 |
missense |
possibly damaging |
0.68 |
IGL03209:Alms1
|
APN |
6 |
85599973 |
splice site |
probably benign |
|
IGL03247:Alms1
|
APN |
6 |
85678597 |
missense |
possibly damaging |
0.85 |
ares
|
UTSW |
6 |
85621275 |
nonsense |
probably null |
|
ares2
|
UTSW |
6 |
85677990 |
nonsense |
probably null |
|
butterball
|
UTSW |
6 |
85696771 |
missense |
probably damaging |
0.99 |
earthquake
|
UTSW |
6 |
85628735 |
nonsense |
probably null |
|
fatty
|
UTSW |
6 |
85627934 |
nonsense |
probably null |
|
gut_check
|
UTSW |
6 |
85620369 |
nonsense |
probably null |
|
portly
|
UTSW |
6 |
85619712 |
missense |
probably benign |
0.00 |
replete
|
UTSW |
6 |
85629208 |
missense |
possibly damaging |
0.87 |
PIT4468001:Alms1
|
UTSW |
6 |
85624719 |
critical splice donor site |
probably null |
|
R0003:Alms1
|
UTSW |
6 |
85629210 |
missense |
possibly damaging |
0.90 |
R0095:Alms1
|
UTSW |
6 |
85620253 |
missense |
possibly damaging |
0.90 |
R0110:Alms1
|
UTSW |
6 |
85620369 |
nonsense |
probably null |
|
R0114:Alms1
|
UTSW |
6 |
85619803 |
missense |
probably benign |
0.00 |
R0153:Alms1
|
UTSW |
6 |
85641381 |
missense |
possibly damaging |
0.94 |
R0217:Alms1
|
UTSW |
6 |
85622930 |
missense |
probably damaging |
0.99 |
R0328:Alms1
|
UTSW |
6 |
85610814 |
splice site |
probably null |
|
R0410:Alms1
|
UTSW |
6 |
85587803 |
missense |
unknown |
|
R0469:Alms1
|
UTSW |
6 |
85620369 |
nonsense |
probably null |
|
R0491:Alms1
|
UTSW |
6 |
85702600 |
missense |
probably damaging |
0.98 |
R0510:Alms1
|
UTSW |
6 |
85620369 |
nonsense |
probably null |
|
R0522:Alms1
|
UTSW |
6 |
85621615 |
missense |
probably benign |
|
R0525:Alms1
|
UTSW |
6 |
85587760 |
missense |
unknown |
|
R0611:Alms1
|
UTSW |
6 |
85678671 |
missense |
possibly damaging |
0.61 |
R0637:Alms1
|
UTSW |
6 |
85623033 |
missense |
possibly damaging |
0.85 |
R0718:Alms1
|
UTSW |
6 |
85621821 |
missense |
probably benign |
0.00 |
R0831:Alms1
|
UTSW |
6 |
85628520 |
missense |
probably benign |
0.00 |
R1318:Alms1
|
UTSW |
6 |
85628549 |
missense |
possibly damaging |
0.62 |
R1340:Alms1
|
UTSW |
6 |
85667957 |
critical splice donor site |
probably null |
|
R1561:Alms1
|
UTSW |
6 |
85629052 |
nonsense |
probably null |
|
R1648:Alms1
|
UTSW |
6 |
85678402 |
missense |
probably damaging |
0.99 |
R1697:Alms1
|
UTSW |
6 |
85622454 |
missense |
possibly damaging |
0.94 |
R1699:Alms1
|
UTSW |
6 |
85622880 |
missense |
possibly damaging |
0.46 |
R1715:Alms1
|
UTSW |
6 |
85629052 |
nonsense |
probably null |
|
R1723:Alms1
|
UTSW |
6 |
85628753 |
missense |
probably damaging |
1.00 |
R1734:Alms1
|
UTSW |
6 |
85641550 |
critical splice donor site |
probably null |
|
R1758:Alms1
|
UTSW |
6 |
85628505 |
missense |
probably damaging |
0.99 |
R1804:Alms1
|
UTSW |
6 |
85621275 |
nonsense |
probably null |
|
R1835:Alms1
|
UTSW |
6 |
85678503 |
missense |
possibly damaging |
0.94 |
R1836:Alms1
|
UTSW |
6 |
85678503 |
missense |
possibly damaging |
0.94 |
R2077:Alms1
|
UTSW |
6 |
85622309 |
missense |
possibly damaging |
0.93 |
R2246:Alms1
|
UTSW |
6 |
85622967 |
missense |
possibly damaging |
0.91 |
R2254:Alms1
|
UTSW |
6 |
85619848 |
missense |
probably damaging |
1.00 |
R2280:Alms1
|
UTSW |
6 |
85677973 |
missense |
probably damaging |
0.99 |
R2516:Alms1
|
UTSW |
6 |
85667963 |
splice site |
probably benign |
|
R2519:Alms1
|
UTSW |
6 |
85667963 |
splice site |
probably benign |
|
R2566:Alms1
|
UTSW |
6 |
85622482 |
missense |
possibly damaging |
0.84 |
R2850:Alms1
|
UTSW |
6 |
85621299 |
missense |
probably benign |
0.00 |
R2850:Alms1
|
UTSW |
6 |
85667963 |
splice site |
probably benign |
|
R2932:Alms1
|
UTSW |
6 |
85620562 |
missense |
possibly damaging |
0.89 |
R2944:Alms1
|
UTSW |
6 |
85628391 |
missense |
probably damaging |
1.00 |
R2980:Alms1
|
UTSW |
6 |
85628835 |
missense |
probably damaging |
1.00 |
R3084:Alms1
|
UTSW |
6 |
85678140 |
missense |
probably benign |
|
R3086:Alms1
|
UTSW |
6 |
85678140 |
missense |
probably benign |
|
R3122:Alms1
|
UTSW |
6 |
85667963 |
splice site |
probably benign |
|
R3404:Alms1
|
UTSW |
6 |
85667963 |
splice site |
probably benign |
|
R3405:Alms1
|
UTSW |
6 |
85667963 |
splice site |
probably benign |
|
R3804:Alms1
|
UTSW |
6 |
85619647 |
missense |
probably damaging |
1.00 |
R3904:Alms1
|
UTSW |
6 |
85621678 |
missense |
probably benign |
0.00 |
R4014:Alms1
|
UTSW |
6 |
85678352 |
missense |
probably benign |
0.41 |
R4056:Alms1
|
UTSW |
6 |
85587803 |
missense |
unknown |
|
R4067:Alms1
|
UTSW |
6 |
85621289 |
missense |
probably damaging |
1.00 |
R4110:Alms1
|
UTSW |
6 |
85620888 |
missense |
probably benign |
0.00 |
R4111:Alms1
|
UTSW |
6 |
85620888 |
missense |
probably benign |
0.00 |
R4112:Alms1
|
UTSW |
6 |
85620888 |
missense |
probably benign |
0.00 |
R4194:Alms1
|
UTSW |
6 |
85677990 |
nonsense |
probably null |
|
R4464:Alms1
|
UTSW |
6 |
85620021 |
missense |
possibly damaging |
0.66 |
R4539:Alms1
|
UTSW |
6 |
85620478 |
missense |
possibly damaging |
0.78 |
R4554:Alms1
|
UTSW |
6 |
85624617 |
missense |
probably benign |
|
R4696:Alms1
|
UTSW |
6 |
85620522 |
missense |
probably damaging |
1.00 |
R4825:Alms1
|
UTSW |
6 |
85678245 |
missense |
probably damaging |
0.99 |
R4921:Alms1
|
UTSW |
6 |
85628546 |
missense |
probably benign |
0.13 |
R5030:Alms1
|
UTSW |
6 |
85627964 |
missense |
probably damaging |
0.98 |
R5051:Alms1
|
UTSW |
6 |
85627934 |
nonsense |
probably null |
|
R5085:Alms1
|
UTSW |
6 |
85620732 |
missense |
possibly damaging |
0.55 |
R5141:Alms1
|
UTSW |
6 |
85621432 |
missense |
probably benign |
0.01 |
R5233:Alms1
|
UTSW |
6 |
85656371 |
splice site |
probably null |
|
R5310:Alms1
|
UTSW |
6 |
85615368 |
missense |
possibly damaging |
0.79 |
R5344:Alms1
|
UTSW |
6 |
85696789 |
missense |
probably benign |
0.04 |
R5394:Alms1
|
UTSW |
6 |
85623088 |
missense |
probably benign |
0.01 |
R5460:Alms1
|
UTSW |
6 |
85696731 |
missense |
probably benign |
0.08 |
R5558:Alms1
|
UTSW |
6 |
85641329 |
nonsense |
probably null |
|
R5650:Alms1
|
UTSW |
6 |
85620271 |
missense |
probably damaging |
1.00 |
R5667:Alms1
|
UTSW |
6 |
85696771 |
missense |
probably damaging |
0.99 |
R5671:Alms1
|
UTSW |
6 |
85629208 |
missense |
possibly damaging |
0.87 |
R5688:Alms1
|
UTSW |
6 |
85599895 |
missense |
possibly damaging |
0.92 |
R5815:Alms1
|
UTSW |
6 |
85622838 |
missense |
probably damaging |
0.99 |
R5892:Alms1
|
UTSW |
6 |
85620903 |
missense |
probably damaging |
0.99 |
R5947:Alms1
|
UTSW |
6 |
85619712 |
missense |
probably benign |
0.00 |
R6031:Alms1
|
UTSW |
6 |
85622955 |
missense |
probably damaging |
1.00 |
R6031:Alms1
|
UTSW |
6 |
85622955 |
missense |
probably damaging |
1.00 |
R6144:Alms1
|
UTSW |
6 |
85623074 |
missense |
probably damaging |
0.98 |
R6258:Alms1
|
UTSW |
6 |
85628735 |
nonsense |
probably null |
|
R6260:Alms1
|
UTSW |
6 |
85628735 |
nonsense |
probably null |
|
R6455:Alms1
|
UTSW |
6 |
85696657 |
missense |
probably damaging |
0.99 |
R6569:Alms1
|
UTSW |
6 |
85641339 |
missense |
probably benign |
0.07 |
R6637:Alms1
|
UTSW |
6 |
85619734 |
missense |
possibly damaging |
0.78 |
R6866:Alms1
|
UTSW |
6 |
85621098 |
missense |
possibly damaging |
0.85 |
R6918:Alms1
|
UTSW |
6 |
85622661 |
missense |
possibly damaging |
0.87 |
R7121:Alms1
|
UTSW |
6 |
85624622 |
missense |
probably damaging |
1.00 |
R7179:Alms1
|
UTSW |
6 |
85621369 |
missense |
probably benign |
0.09 |
R7334:Alms1
|
UTSW |
6 |
85641450 |
missense |
probably damaging |
0.99 |
R7376:Alms1
|
UTSW |
6 |
85622106 |
missense |
probably benign |
0.10 |
R7394:Alms1
|
UTSW |
6 |
85622223 |
missense |
possibly damaging |
0.54 |
R7413:Alms1
|
UTSW |
6 |
85628306 |
missense |
probably benign |
0.03 |
R7511:Alms1
|
UTSW |
6 |
85609425 |
missense |
unknown |
|
R7542:Alms1
|
UTSW |
6 |
85629362 |
missense |
possibly damaging |
0.62 |
R7562:Alms1
|
UTSW |
6 |
85620412 |
missense |
probably damaging |
1.00 |
R7575:Alms1
|
UTSW |
6 |
85622159 |
missense |
possibly damaging |
0.49 |
R7577:Alms1
|
UTSW |
6 |
85615320 |
missense |
probably benign |
0.09 |
R7618:Alms1
|
UTSW |
6 |
85678417 |
missense |
probably benign |
0.07 |
R7653:Alms1
|
UTSW |
6 |
85620595 |
missense |
possibly damaging |
0.47 |
R7672:Alms1
|
UTSW |
6 |
85615351 |
missense |
probably damaging |
1.00 |
R7807:Alms1
|
UTSW |
6 |
85622976 |
missense |
possibly damaging |
0.91 |
R7815:Alms1
|
UTSW |
6 |
85615358 |
missense |
probably benign |
0.42 |
R7849:Alms1
|
UTSW |
6 |
85621497 |
missense |
possibly damaging |
0.48 |
R7944:Alms1
|
UTSW |
6 |
85641380 |
missense |
probably benign |
0.03 |
R7954:Alms1
|
UTSW |
6 |
85621162 |
missense |
probably damaging |
0.98 |
R7971:Alms1
|
UTSW |
6 |
85628679 |
missense |
probably benign |
|
R8048:Alms1
|
UTSW |
6 |
85641334 |
missense |
probably benign |
0.13 |
R8223:Alms1
|
UTSW |
6 |
85643240 |
nonsense |
probably null |
|
R8332:Alms1
|
UTSW |
6 |
85620579 |
missense |
probably benign |
0.05 |
R8374:Alms1
|
UTSW |
6 |
85608991 |
missense |
probably benign |
0.41 |
R8470:Alms1
|
UTSW |
6 |
85641375 |
missense |
probably damaging |
0.99 |
R8755:Alms1
|
UTSW |
6 |
85621574 |
missense |
probably benign |
0.01 |
R8979:Alms1
|
UTSW |
6 |
85621027 |
missense |
probably damaging |
0.98 |
R9044:Alms1
|
UTSW |
6 |
85696753 |
missense |
probably damaging |
0.98 |
R9057:Alms1
|
UTSW |
6 |
85609832 |
missense |
unknown |
|
R9224:Alms1
|
UTSW |
6 |
85621788 |
missense |
possibly damaging |
0.69 |
R9259:Alms1
|
UTSW |
6 |
85667891 |
missense |
possibly damaging |
0.94 |
R9401:Alms1
|
UTSW |
6 |
85678019 |
nonsense |
probably null |
|
R9459:Alms1
|
UTSW |
6 |
85627964 |
missense |
probably damaging |
0.98 |
X0013:Alms1
|
UTSW |
6 |
85656455 |
missense |
probably damaging |
1.00 |
X0025:Alms1
|
UTSW |
6 |
85620210 |
missense |
probably damaging |
0.96 |
Z1176:Alms1
|
UTSW |
6 |
85678418 |
missense |
probably benign |
0.41 |
|
Posted On |
2012-12-06 |