Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02079:Alms1'

186066

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Alms1

Ensembl Gene

ENSMUSG00000063810

Gene Name

ALMS1, centrosome and basal body associated

Synonyms

Alstrom syndrome 1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02079

Quality Score

Status

Chromosome

Chromosomal Location

85564513-85679735 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85605616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2422 (V2422A)

Ref Sequence

ENSEMBL: ENSMUSP00000148796 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072018] [ENSMUST00000213058]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000072018
AA Change: V1953A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000071904
Gene: ENSMUSG00000063810
AA Change: V1953A

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: V2422A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	T	C	2: 31,579,960 (GRCm39)		probably benign	Het
Ago4	A	T	4: 126,410,877 (GRCm39)	M204K	probably damaging	Het
Ap5z1	T	C	5: 142,462,868 (GRCm39)		probably null	Het
Arsa	T	C	15: 89,357,554 (GRCm39)	T470A	probably benign	Het
Bri3bp	T	C	5: 125,531,753 (GRCm39)	V233A	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Elapor1	T	A	3: 108,388,675 (GRCm39)	N236I	possibly damaging	Het
Ephb6	T	A	6: 41,592,948 (GRCm39)	D395E	possibly damaging	Het
Flt1	T	A	5: 147,505,641 (GRCm39)		probably benign	Het
Fry	A	T	5: 150,323,089 (GRCm39)	N1080I	probably damaging	Het
Gdpgp1	T	A	7: 79,888,768 (GRCm39)	D266E	probably benign	Het
Gspt1	A	G	16: 11,058,693 (GRCm39)	S123P	probably benign	Het
Kctd17	T	C	15: 78,314,356 (GRCm39)		probably benign	Het
Lamb2	T	A	9: 108,359,312 (GRCm39)	C313S	probably damaging	Het
Lcor	T	A	19: 41,544,126 (GRCm39)	S106R	probably benign	Het
Lgr5	A	C	10: 115,288,099 (GRCm39)	S776R	probably damaging	Het
Mettl16	T	G	11: 74,708,450 (GRCm39)	C510G	probably damaging	Het
Mlip	T	C	9: 77,146,811 (GRCm39)	T101A	possibly damaging	Het
Myh6	A	T	14: 55,187,998 (GRCm39)	L1152Q	probably damaging	Het
Mylk	G	A	16: 34,681,001 (GRCm39)	R87H	possibly damaging	Het
Npepl1	C	T	2: 173,961,183 (GRCm39)		probably benign	Het
Nrxn1	A	T	17: 90,950,511 (GRCm39)	M548K	probably damaging	Het
Or10a48	T	A	7: 108,425,143 (GRCm39)	E21V	probably damaging	Het
Or4c11c	T	A	2: 88,661,991 (GRCm39)	C177S	probably damaging	Het
Pate3	T	A	9: 35,557,449 (GRCm39)	Q69L	probably damaging	Het
Piwil1	T	C	5: 128,819,067 (GRCm39)	V192A	possibly damaging	Het
Plcxd2	A	T	16: 45,792,706 (GRCm39)	I211N	probably benign	Het
Plekhg3	T	A	12: 76,607,203 (GRCm39)	Y88N	probably benign	Het
Rabgap1l	C	T	1: 160,566,540 (GRCm39)	C58Y	probably benign	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rusc2	A	G	4: 43,425,668 (GRCm39)	S1258G	probably benign	Het
Scn1a	T	C	2: 66,153,704 (GRCm39)	R710G	probably benign	Het
Wwc1	A	G	11: 35,766,885 (GRCm39)	S457P	probably damaging	Het
Xdh	C	T	17: 74,198,272 (GRCm39)	G1205D	probably damaging	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zfp592	T	C	7: 80,688,978 (GRCm39)	S1080P	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
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
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

Posted On

2014-05-07