Mutagenetix > Incidental Mutation

Incidental Mutation 'R8048:Alms1'

618876

Institutional Source

Beutler Lab

Gene Symbol

Alms1

Ensembl Gene

ENSMUSG00000063810

Gene Name

ALMS1, centrosome and basal body associated

Synonyms

Alstrom syndrome 1

MMRRC Submission

067485-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85564513-85679735 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85618316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 2318 (S2318R)

Ref Sequence

ENSEMBL: ENSMUSP00000071904 (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: S2318R

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000071904
Gene: ENSMUSG00000063810
AA Change: S2318R

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: S2787R

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (65/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	T	16: 14,228,708 (GRCm39)	L318F	probably damaging	Het
Arhgap12	G	A	18: 6,052,883 (GRCm39)	T443I	probably benign	Het
Arhgap29	C	T	3: 121,786,550 (GRCm39)	R372W	probably damaging	Het
Astn1	T	C	1: 158,516,208 (GRCm39)	I1266T	probably benign	Het
Bsg	T	C	10: 79,545,580 (GRCm39)	V164A	probably benign	Het
C1qa	G	T	4: 136,623,921 (GRCm39)	S94R	probably benign	Het
Cadps2	A	G	6: 23,838,862 (GRCm39)	V92A	probably benign	Het
Ccdc187	T	A	2: 26,183,526 (GRCm39)	D158V	possibly damaging	Het
Cngb1	T	A	8: 95,989,838 (GRCm39)	Y758F	possibly damaging	Het
Ddx4	G	A	13: 112,758,706 (GRCm39)	A285V	probably null	Het
Dsg1c	A	T	18: 20,407,824 (GRCm39)	K390M	probably damaging	Het
Dst	T	C	1: 34,229,717 (GRCm39)	F2437L	probably benign	Het
Eln	CTCCAGCTCCGAT	C	5: 134,758,003 (GRCm39)		probably benign	Het
Fam227a	CATTGTCTTGA	CA	15: 79,533,959 (GRCm39)		probably null	Het
Fez2	T	C	17: 78,694,482 (GRCm39)	I303V	probably benign	Het
Ffar1	A	T	7: 30,560,003 (GRCm39)	I298N	probably benign	Het
Hpx	C	T	7: 105,244,685 (GRCm39)	V228I	probably benign	Het
Igkv1-117	T	G	6: 68,098,786 (GRCm39)	C112G	probably damaging	Het
Il3ra	A	G	14: 14,348,903 (GRCm38)	D99G	probably benign	Het
Ivl	T	A	3: 92,479,231 (GRCm39)	K278M	probably damaging	Het
Lyst	A	G	13: 13,862,230 (GRCm39)	T2589A	probably benign	Het
Madd	A	T	2: 90,984,793 (GRCm39)	M1359K	probably damaging	Het
Nav3	T	C	10: 109,600,779 (GRCm39)	T1283A	probably benign	Het
Ncapd2	G	T	6: 125,156,661 (GRCm39)	C439*	probably null	Het
Nebl	T	C	2: 17,429,333 (GRCm39)	D266G	probably benign	Het
Oas1f	G	T	5: 120,985,602 (GRCm39)	G49V	probably damaging	Het
Oas1f	A	T	5: 120,986,479 (GRCm39)	Q144L	possibly damaging	Het
Or11g7	T	C	14: 50,691,373 (GRCm39)	L288P	possibly damaging	Het
Or2ab1	A	G	11: 58,488,233 (GRCm39)	I6V	unknown	Het
Or2n1	T	C	17: 38,486,419 (GRCm39)	V148A	probably benign	Het
Or5an6	A	G	19: 12,371,719 (GRCm39)	I31V	not run	Het
Or5j3	C	T	2: 86,128,672 (GRCm39)	P171S	probably benign	Het
Or5m3	T	G	2: 85,838,524 (GRCm39)	S135A	probably damaging	Het
Or5t18	T	A	2: 86,636,515 (GRCm39)	Y276F	probably damaging	Het
Or6b6	C	T	7: 106,571,671 (GRCm39)		probably benign	Het
Or8b52	C	T	9: 38,577,108 (GRCm39)	E11K	probably benign	Het
Or8j3c	T	A	2: 86,253,651 (GRCm39)	Y123F	probably damaging	Het
Pard3b	T	A	1: 62,193,148 (GRCm39)	V217E	probably damaging	Het
Pcdha2	T	A	18: 37,072,513 (GRCm39)	I48N	probably damaging	Het
Pi4ka	A	G	16: 17,120,991 (GRCm39)	F1248L		Het
Plekha2	A	T	8: 25,554,005 (GRCm39)		probably benign	Het
Plpp4	C	T	7: 128,981,201 (GRCm39)	R151C	unknown	Het
Pramel14	T	A	4: 143,718,177 (GRCm39)	Y422F	probably benign	Het
Prdm16	A	G	4: 154,405,339 (GRCm39)	L1245P	probably damaging	Het
Prob1	G	A	18: 35,786,604 (GRCm39)	A550V	probably benign	Het
Prok1	T	C	3: 107,144,408 (GRCm39)	H65R	probably benign	Het
Ptcd1	A	G	5: 145,091,887 (GRCm39)	V404A	probably benign	Het
Sbf2	T	C	7: 109,914,289 (GRCm39)	E1631G	probably benign	Het
Sdad1	C	A	5: 92,447,948 (GRCm39)	K262N	probably benign	Het
Sh3bp1	G	T	15: 78,794,272 (GRCm39)	A547S	probably benign	Het
Sptb	T	C	12: 76,675,333 (GRCm39)	D227G	probably benign	Het
Tbx1	A	G	16: 18,406,769 (GRCm39)	M1T	probably null	Het
Tespa1	T	A	10: 130,183,208 (GRCm39)	V51D	probably damaging	Het
Tmc7	T	C	7: 118,165,468 (GRCm39)	N82S	probably benign	Het
Tmem8b	A	G	4: 43,689,476 (GRCm39)	D290G	possibly damaging	Het
Trbv13-2	A	T	6: 41,098,493 (GRCm39)	T23S	probably damaging	Het
Trib3	A	T	2: 152,180,553 (GRCm39)	D213E	probably damaging	Het
Tubgcp4	T	C	2: 121,013,981 (GRCm39)	V178A	probably benign	Het
Virma	T	A	4: 11,539,918 (GRCm39)	C1412*	probably null	Het
Vmn2r108	T	C	17: 20,691,762 (GRCm39)	T254A	probably benign	Het
Vps13d	A	G	4: 144,882,137 (GRCm39)	V1152A		Het
Wdr47	T	C	3: 108,526,284 (GRCm39)	V269A	probably damaging	Het
Zc3h13	T	A	14: 75,561,977 (GRCm39)	D676E	unknown	Het
Zc3h6	T	A	2: 128,858,934 (GRCm39)	S988R	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
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
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'- GGCAAACCTGGATGGCTTTTG -3'

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

Posted On

2020-01-23