Mutagenetix > Incidental Mutation

Incidental Mutation 'R6569:Alms1'

526186

Institutional Source

Beutler Lab

Gene Symbol

Alms1

Ensembl Gene

ENSMUSG00000063810

Gene Name

ALMS1, centrosome and basal body associated

Synonyms

Alstrom syndrome 1

MMRRC Submission

044693-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6569 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85564513-85679735 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85618321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 2789 (V2789D)

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: V2320D

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000071904
Gene: ENSMUSG00000063810
AA Change: V2320D

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: ENSMUST00000201244

Predicted Effect

probably benign
Transcript: ENSMUST00000213058
AA Change: V2789D

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

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
Ccdc40	A	G	11: 119,133,560 (GRCm39)	T567A	probably damaging	Het
Col7a1	T	G	9: 108,807,178 (GRCm39)		probably null	Het
Crb2	A	T	2: 37,682,163 (GRCm39)	Q173L	probably damaging	Het
Cuzd1	T	C	7: 130,913,486 (GRCm39)	Y377C	probably damaging	Het
Echdc1	T	C	10: 29,198,280 (GRCm39)	M75T	probably damaging	Het
Faah	G	T	4: 115,874,829 (GRCm39)	A9E	probably benign	Het
Gpatch1	T	C	7: 34,991,163 (GRCm39)	D627G	probably damaging	Het
Grid1	G	T	14: 35,045,296 (GRCm39)	V380F	possibly damaging	Het
Klf4	T	C	4: 55,530,394 (GRCm39)	Y239C	probably damaging	Het
Mkx	C	A	18: 6,992,820 (GRCm39)	E155*	probably null	Het
Mmp11	G	A	10: 75,763,216 (GRCm39)		probably benign	Het
Mms19	T	C	19: 41,952,807 (GRCm39)	K101E	possibly damaging	Het
Mrpl23	C	A	7: 142,088,776 (GRCm39)	R44S	probably damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Or4a75	A	G	2: 89,448,359 (GRCm39)	F59S	possibly damaging	Het
Or7e166	G	A	9: 19,624,638 (GRCm39)	V172I	probably benign	Het
Or8u10	A	G	2: 85,915,849 (GRCm39)	S91P	possibly damaging	Het
Pcdhgc5	C	T	18: 37,953,248 (GRCm39)	P174L	probably damaging	Het
Phf20l1	A	T	15: 66,501,673 (GRCm39)	D619V	probably damaging	Het
Plcz1	C	T	6: 139,953,433 (GRCm39)	A395T	possibly damaging	Het
Polr1f	T	A	12: 33,487,882 (GRCm39)	C266S	probably benign	Het
Rbm45	A	G	2: 76,209,416 (GRCm39)	D410G	probably damaging	Het
Sh3bp1	T	C	15: 78,795,896 (GRCm39)	L675P	probably damaging	Het
Taf6l	G	A	19: 8,750,074 (GRCm39)	T208I	probably damaging	Het
Tnpo3	A	G	6: 29,571,065 (GRCm39)	I443T	possibly damaging	Het
Vmn1r42	A	G	6: 89,822,425 (GRCm39)	L48P	probably damaging	Het
Vmn2r25	A	G	6: 123,828,941 (GRCm39)	V111A	probably benign	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
R1318:Alms1	UTSW	6	85,605,531 (GRCm39)	missense	possibly damaging	0.62
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
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'- CCTCTGGGCATTTAATATAGCTTC -3'
(R):5'- GCTGCACTGAGGATGATGAG -3'

Sequencing Primer
(F):5'- CTAAGAAGTACTGTTTCTTCAG -3'
(R):5'- GGCAAACCTGGATGGCTTTTG -3'

Posted On

2018-06-22