Mutagenetix > Incidental Mutation

Incidental Mutation 'R1318:Alms1'

157601

Institutional Source

Beutler Lab

Gene Symbol

Alms1

Ensembl Gene

ENSMUSG00000063810

Gene Name

ALMS1, centrosome and basal body associated

Synonyms

Alstrom syndrome 1

MMRRC Submission

039384-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1318 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85564513-85679735 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 85605531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 1925 (S1925A)

Ref Sequence

ENSEMBL: ENSMUSP00000071904 (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: S1925A

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000071904
Gene: ENSMUSG00000063810
AA Change: S1925A

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 benign
Transcript: ENSMUST00000213058
AA Change: S2394A

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 92.9%
20x: 82.6%

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	T	5: 8,751,621 (GRCm39)	V334L	probably benign	Het
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Comt	G	T	16: 18,226,641 (GRCm39)	D248E	probably damaging	Het
Ctnna2	A	C	6: 76,859,773 (GRCm39)	N874K	probably damaging	Het
Dnah7b	C	T	1: 46,138,669 (GRCm39)	P237L	possibly damaging	Het
Galnt4	T	G	10: 98,945,772 (GRCm39)	V499G	probably damaging	Het
Gh	T	C	11: 106,191,923 (GRCm39)	T96A	probably benign	Het
Gng8	T	C	7: 16,629,161 (GRCm39)	V29A	probably damaging	Het
Hnrnpu	G	A	1: 178,157,822 (GRCm39)		probably benign	Het
Igdcc4	T	C	9: 65,040,972 (GRCm39)	L1001P	probably damaging	Het
Jph1	A	C	1: 17,067,714 (GRCm39)	F658V	probably damaging	Het
Kcnj3	A	T	2: 55,327,750 (GRCm39)	M180L	possibly damaging	Het
Ldb2	C	T	5: 44,692,379 (GRCm39)		probably null	Het
Mettl2	C	A	11: 105,028,597 (GRCm39)	Y316*	probably null	Het
Mug2	G	A	6: 122,054,361 (GRCm39)	V1047M	probably damaging	Het
Mxra8	G	T	4: 155,925,956 (GRCm39)	C140F	probably damaging	Het
Mylip	T	C	13: 45,559,401 (GRCm39)	I101T	probably benign	Het
Oasl2	A	G	5: 115,039,442 (GRCm39)	N210S	probably benign	Het
Pclo	A	G	5: 14,729,328 (GRCm39)		probably benign	Het
Plaat3	T	A	19: 7,556,591 (GRCm39)		probably null	Het
Rims2	G	A	15: 39,381,222 (GRCm39)	R1051H	probably damaging	Het
Rnf4	C	A	5: 34,508,590 (GRCm39)	R151S	probably damaging	Het
Serpina11	A	T	12: 103,952,777 (GRCm39)		probably benign	Het
Trim30b	T	A	7: 104,006,542 (GRCm39)	T105S	possibly damaging	Het
Ttn	T	C	2: 76,706,164 (GRCm39)		probably benign	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Zranb1	C	A	7: 132,568,281 (GRCm39)	S313*	probably null	Het

Other mutations in Alms1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- CTGAGCCCAAGAAGCAGTTCACTAC -3'
(R):5'- AGTTTGTCCTGGCTAACAATGGTATCC -3'

Sequencing Primer
(F):5'- GAAGCAGTTCACTACTGCCATC -3'
(R):5'- GGCTAACAATGGTATCCTTACCAG -3'

Posted On

2014-02-18