Mutagenetix > Incidental Mutation

Incidental Mutation 'R7849:Alms1'

606804

Institutional Source

Beutler Lab

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 #

R7849 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85587531-85702753 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85621497 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 1102 (I1102L)

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: I1102L

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000071904
Gene: ENSMUSG00000063810
AA Change: I1102L

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

probably benign
Transcript: ENSMUST00000213058
AA Change: I1571L

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 37,026,328 (GRCm38)	I325N		Het
Agap1	T	C	1: 89,630,419 (GRCm38)	V143A	probably damaging	Het
Agmo	A	G	12: 37,242,045 (GRCm38)	R2G	probably benign	Het
Ankrd13a	T	C	5: 114,791,282 (GRCm38)	I140T	possibly damaging	Het
Arhgef10l	T	A	4: 140,583,934 (GRCm38)		probably null	Het
Atxn2l	A	T	7: 126,493,173 (GRCm38)	H967Q	possibly damaging	Het
B3galnt2	A	T	13: 13,994,492 (GRCm38)	N370I	probably benign	Het
BC053393	T	A	11: 46,577,231 (GRCm38)	I44K	not run	Het
Cacna1e	C	T	1: 154,633,718 (GRCm38)	D264N	probably damaging	Het
Ccdc112	A	T	18: 46,296,323 (GRCm38)	Y103N	probably benign	Het
Ccdc68	A	C	18: 69,947,175 (GRCm38)	E197A	probably damaging	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 61,184,524 (GRCm38)		probably benign	Het
Cntn3	T	C	6: 102,265,431 (GRCm38)	M418V	probably benign	Het
Cpne4	T	A	9: 104,686,519 (GRCm38)	C32S	probably damaging	Het
Csf2rb2	A	T	15: 78,284,421 (GRCm38)	S845T	probably benign	Het
Ctnnd2	T	G	15: 31,027,587 (GRCm38)	V1219G	probably damaging	Het
Cyp4f14	G	A	17: 32,909,351 (GRCm38)	A230V	probably benign	Het
Cyth1	TGGGCAA	T	11: 118,183,923 (GRCm38)		probably null	Het
Dmxl1	T	A	18: 49,961,147 (GRCm38)	C2897S	probably benign	Het
Elavl2	T	A	4: 91,372,043 (GRCm38)		probably benign	Het
Fam135a	T	C	1: 24,044,250 (GRCm38)	E298G	probably damaging	Het
Fbn1	A	T	2: 125,309,485 (GRCm38)	I2534N	probably damaging	Het
Fibin	A	G	2: 110,362,480 (GRCm38)	S106P	probably damaging	Het
Fndc3a	C	T	14: 72,564,660 (GRCm38)	V568M	probably benign	Het
Frem2	A	G	3: 53,572,374 (GRCm38)	F1966S	probably damaging	Het
Gata4	T	G	14: 63,204,725 (GRCm38)	E216A	possibly damaging	Het
Gmps	T	A	3: 64,015,563 (GRCm38)	V649E	probably benign	Het
Golga4	A	T	9: 118,559,311 (GRCm38)	N1834Y	possibly damaging	Het
Gpr89	A	T	3: 96,871,490 (GRCm38)	Y422*	probably null	Het
Gzmc	A	T	14: 56,232,372 (GRCm38)	F157Y	probably benign	Het
Hdhd2	A	G	18: 76,965,266 (GRCm38)	D204G	probably damaging	Het
Hspa4	T	G	11: 53,280,703 (GRCm38)	T225P	possibly damaging	Het
Ikbkap	A	T	4: 56,758,968 (GRCm38)	S1191T	possibly damaging	Het
Klhl30	T	A	1: 91,359,337 (GRCm38)	D448E	probably benign	Het
Kptn	A	G	7: 16,120,041 (GRCm38)	Y28C	probably damaging	Het
Krt10	A	T	11: 99,387,606 (GRCm38)	N242K	probably damaging	Het
Krt6b	A	T	15: 101,678,574 (GRCm38)	N254K	probably damaging	Het
Lama5	G	T	2: 180,201,812 (GRCm38)	D447E	probably damaging	Het
Lgr6	T	C	1: 134,987,681 (GRCm38)	Y720C	probably damaging	Het
Macf1	G	C	4: 123,407,599 (GRCm38)	P1037A	probably benign	Het
Map3k19	C	T	1: 127,823,646 (GRCm38)	G656D	probably benign	Het
Mroh7	A	C	4: 106,721,090 (GRCm38)	N130K	probably benign	Het
Muc16	T	C	9: 18,640,505 (GRCm38)	T4831A	probably benign	Het
Nfkb1	A	T	3: 135,585,412 (GRCm38)	L533H		Het
Oaf	G	A	9: 43,222,780 (GRCm38)	R215C	probably damaging	Het
Olfr1033	G	A	2: 86,041,605 (GRCm38)	V97I	probably benign	Het
Olfr1265	A	G	2: 90,037,282 (GRCm38)	Y121C	probably damaging	Het
Olfr151	A	G	9: 37,730,707 (GRCm38)	I92T	probably damaging	Het
Olfr639	C	A	7: 104,012,303 (GRCm38)	R133L	possibly damaging	Het
Olfr971	A	G	9: 39,840,322 (GRCm38)	D296G	possibly damaging	Het
Otub1	T	C	19: 7,200,060 (GRCm38)	D74G	probably damaging	Het
Oxct2b	A	G	4: 123,116,887 (GRCm38)	E200G	probably damaging	Het
Pcdh1	T	C	18: 38,189,609 (GRCm38)	D1057G	probably benign	Het
Pkd1	T	A	17: 24,586,200 (GRCm38)	V3242E	probably damaging	Het
Pkd1l3	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	8: 109,623,788 (GRCm38)		probably benign	Het
Pla2g4e	T	A	2: 120,185,322 (GRCm38)	D247V	probably benign	Het
Pole	T	A	5: 110,332,548 (GRCm38)	M1995K	probably benign	Het
Ppargc1a	T	C	5: 51,548,513 (GRCm38)	E76G	probably benign	Het
Pten	G	T	19: 32,799,996 (GRCm38)	R130L	probably damaging	Het
Ptprj	A	T	2: 90,444,460 (GRCm38)	V1186D	probably damaging	Het
Rab4a	T	A	8: 123,806,137 (GRCm38)	M1K	probably null	Het
Rapgef3	C	A	15: 97,758,390 (GRCm38)		probably null	Het
Rarb	C	A	14: 16,548,473 (GRCm38)	V83F	probably damaging	Het
Rgs22	A	T	15: 36,099,712 (GRCm38)	F410I	probably damaging	Het
Rhpn2	A	C	7: 35,381,487 (GRCm38)	E459A	probably benign	Het
Rims4	A	T	2: 163,864,054 (GRCm38)	L220Q	probably damaging	Het
Robo2	T	C	16: 73,973,244 (GRCm38)	T531A	possibly damaging	Het
Sbf2	T	C	7: 110,372,510 (GRCm38)	H839R	probably damaging	Het
Setbp1	T	C	18: 78,856,853 (GRCm38)	R1200G	probably benign	Het
Slc12a8	C	A	16: 33,624,560 (GRCm38)	P275T	probably damaging	Het
Slc23a1	G	T	18: 35,624,501 (GRCm38)	T239N	probably benign	Het
Slc37a3	T	A	6: 39,364,583 (GRCm38)	T40S	possibly damaging	Het
Speer4c	T	C	5: 15,710,927 (GRCm38)		probably null	Het
Tet1	A	T	10: 62,819,473 (GRCm38)	H1556Q	possibly damaging	Het
Tfcp2l1	T	A	1: 118,675,595 (GRCm38)	D454E	probably damaging	Het
Tmem123	A	T	9: 7,790,889 (GRCm38)	M64L	probably benign	Het
Tmem62	A	T	2: 120,984,372 (GRCm38)	H172L	probably benign	Het
Trim15	T	G	17: 36,866,872 (GRCm38)	Y77S	probably benign	Het
Trim37	T	A	11: 87,201,444 (GRCm38)	V693E	possibly damaging	Het
Trim65	A	G	11: 116,126,256 (GRCm38)	L460S	probably damaging	Het
Ttc39a	T	C	4: 109,422,490 (GRCm38)	V109A	probably benign	Het
Ttc7	A	G	17: 87,292,946 (GRCm38)	M163V	probably null	Het
Vps13b	T	C	15: 35,423,232 (GRCm38)	S233P	probably damaging	Het
Vwf	T	C	6: 125,656,803 (GRCm38)	L2084P		Het
Wasl	A	G	6: 24,633,923 (GRCm38)	V114A	possibly damaging	Het
Wdr5	A	G	2: 27,519,451 (GRCm38)	S62G	probably damaging	Het
Wfdc11	G	T	2: 164,665,525 (GRCm38)	S4*	probably null	Het
Wfikkn2	C	A	11: 94,238,984 (GRCm38)	M110I	probably benign	Het
Wiz	T	G	17: 32,357,786 (GRCm38)	E588A	probably benign	Het
Xylt1	A	G	7: 117,656,668 (GRCm38)	H821R	probably benign	Het
Zbtb7c	A	T	18: 76,145,701 (GRCm38)	H410L	probably benign	Het
Zc3h18	T	A	8: 122,383,971 (GRCm38)	D186E	probably damaging	Het
Zfp687	G	T	3: 95,010,362 (GRCm38)	L700I	possibly damaging	Het
Zmym2	T	A	14: 56,946,563 (GRCm38)	M994K	probably benign	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
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
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'- CTTACACAAAGAGGGGCCTAG -3'
(R):5'- TAGATCACGATGTGGCGAGG -3'

Sequencing Primer
(F):5'- AGTGCTTACCAGGAGGATTTGCC -3'
(R):5'- GCGAGGCCTTTTGATAATCAC -3'

Posted On

2019-12-20