Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02702:Alms1'

304184

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02702

Quality Score

Status

Chromosome

Chromosomal Location

85587531-85702753 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85599849 bp (GRCm38)

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

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	C	T	6: 88,838,138	V337I	probably benign	Het
Adam11	G	A	11: 102,777,038	V750I	probably benign	Het
Cacna1d	T	A	14: 30,123,533	K560*	probably null	Het
Cntn1	A	G	15: 92,291,601		probably benign	Het
Cpne2	T	C	8: 94,570,023	V530A	probably benign	Het
Fbxo21	T	C	5: 118,000,510	L507P	probably damaging	Het
Fndc4	T	C	5: 31,293,735	K204R	probably damaging	Het
Gnrhr	G	T	5: 86,182,269	N297K	possibly damaging	Het
Grin2b	A	G	6: 135,739,132	F729S	probably damaging	Het
Hdac3	C	A	18: 37,941,094	R359L	probably benign	Het
Met	T	C	6: 17,534,143	S662P	possibly damaging	Het
Mphosph9	T	A	5: 124,259,989	E1081D	probably damaging	Het
Mycbp2	T	G	14: 103,220,124	T1546P	probably benign	Het
Nlrp9a	T	A	7: 26,564,956	M767K	possibly damaging	Het
Olfm5	A	G	7: 104,154,357	Y300H	probably damaging	Het
Olfr911-ps1	T	A	9: 38,524,560	V276D	probably damaging	Het
Pcf11	A	T	7: 92,661,618	N178K	possibly damaging	Het
Polr3a	T	C	14: 24,470,877	I571M	probably benign	Het
Ppef2	T	A	5: 92,231,819	R557W	probably benign	Het
Prelid3a	T	A	18: 67,473,794	D85E	probably damaging	Het
Rb1cc1	A	G	1: 6,240,023	E215G	probably damaging	Het
Rbm12	C	T	2: 156,095,560		probably benign	Het
Recql4	C	T	15: 76,707,285	G501R	probably damaging	Het
Sema3e	T	C	5: 14,233,726		probably benign	Het
Shisa6	A	C	11: 66,219,962	L318V	probably damaging	Het
Slu7	T	C	11: 43,438,892		probably benign	Het
Spink12	T	C	18: 44,104,769	V38A	probably benign	Het
Syne2	A	G	12: 76,097,924	D1549G	probably damaging	Het
Tet1	A	G	10: 62,879,752	V88A	possibly damaging	Het
Tmem200a	C	T	10: 25,993,603	G256D	probably damaging	Het
Ttn	G	T	2: 76,884,491		probably benign	Het
Ugt2b34	T	C	5: 86,892,891	I391V	probably benign	Het
Zfp292	A	T	4: 34,809,415	L1215I	probably benign	Het
Zfp410	C	A	12: 84,325,776	N125K	probably damaging	Het

Other mutations in Alms1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R4111: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

Posted On

2015-04-16