Mutagenetix > Incidental Mutation

Incidental Mutation 'R4056:Alms1'

314241

Institutional Source

Beutler Lab

Gene Symbol

Alms1

Ensembl Gene

ENSMUSG00000063810

Gene Name

ALMS1, centrosome and basal body associated

Synonyms

MMRRC Submission

041617-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4056 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85587531-85702753 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85587803 bp (GRCm38)

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

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: E53G

Meta Mutation Damage Score

0.0869

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	T	A	11: 80,375,503		probably benign	Het
Abcf1	A	G	17: 35,959,915	I510T	possibly damaging	Het
Adamts18	T	A	8: 113,737,580	K749*	probably null	Het
Bmper	A	G	9: 23,399,629	H453R	probably benign	Het
Btg1	T	A	10: 96,618,354	M1K	probably null	Het
Cntfr	A	G	4: 41,658,900	I277T	probably damaging	Het
Col6a4	C	A	9: 106,026,466	R1642I	probably damaging	Het
Ctnna3	T	C	10: 65,002,568	I808T	probably damaging	Het
Cyp1a1	T	A	9: 57,700,149	V20D	probably benign	Het
Dnah17	T	C	11: 118,070,538	T2554A	probably benign	Het
Fcgbp	A	T	7: 28,104,116	Q1715L	probably benign	Het
Gabarapl1	T	C	6: 129,538,630	F77S	probably damaging	Het
Gm1966	G	T	7: 106,604,009	D9E	possibly damaging	Het
Hpse2	T	C	19: 43,294,275	K180E	probably damaging	Het
Hs3st2	T	A	7: 121,500,702	L257Q	probably damaging	Het
Ighv1-18	T	C	12: 114,682,667	T106A	probably benign	Het
Ints2	A	C	11: 86,242,952	L424R	probably damaging	Het
Iqgap2	A	G	13: 95,750,033	V114A	probably damaging	Het
Kalrn	A	T	16: 34,314,209	I401N	probably damaging	Het
Maats1	A	G	16: 38,298,214	V741A	probably benign	Het
Mast2	T	A	4: 116,337,501		probably benign	Het
Myo18a	A	G	11: 77,812,013	E5G	possibly damaging	Het
Nav3	A	T	10: 109,880,533		probably null	Het
Net1	G	A	13: 3,884,949	T359I	probably damaging	Het
Pcsk9	T	A	4: 106,444,702	H616L	probably benign	Het
Plekha5	G	T	6: 140,589,232	V597L	possibly damaging	Het
Plekhg3	T	A	12: 76,565,247	I374N	probably damaging	Het
Pros1	A	T	16: 62,900,645	R188*	probably null	Het
Rhbg	C	T	3: 88,243,448	V434I	probably damaging	Het
Rims1	A	G	1: 22,292,939		probably benign	Het
Rxfp2	T	C	5: 150,051,633		probably null	Het
Sbf2	T	C	7: 110,441,466	I385V	probably damaging	Het
Slc22a23	A	C	13: 34,299,004	Y181*	probably null	Het
Spata31	T	A	13: 64,921,655	V539E	probably benign	Het
Trpv5	G	A	6: 41,659,705	R436C	probably damaging	Het
Vmn1r13	G	A	6: 57,209,985	C43Y	probably benign	Het
Wif1	G	A	10: 121,082,194	V156I	probably benign	Het
Zfyve16	T	C	13: 92,504,549	N1229S	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
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
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

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