Mutagenetix > Incidental Mutation

Incidental Mutation 'R5620:Aaas'

439814

Institutional Source

Beutler Lab

Gene Symbol

Aaas

Ensembl Gene

ENSMUSG00000036678

Gene Name

achalasia, adrenocortical insufficiency, alacrimia

Synonyms

GL003, D030041N15Rik, Aladin

MMRRC Submission

043160-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.501) question?

Stock #

R5620 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102246682-102259194 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 102246826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 511 (S511A)

Ref Sequence

ENSEMBL: ENSMUSP00000044604 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001331] [ENSMUST00000041208] [ENSMUST00000113682] [ENSMUST00000229900] [ENSMUST00000230481] [ENSMUST00000228959] [ENSMUST00000231061]

AlphaFold

P58742

Predicted Effect

probably benign
Transcript: ENSMUST00000001331

SMART Domains

Protein: ENSMUSP00000001331
Gene: ENSMUSG00000001285

Domain	Start	End	E-Value	Type
Pfam:UPF0160	41	161	4.8e-54	PFAM
Pfam:UPF0160	158	312	1.3e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000041208
AA Change: S511A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000044604
Gene: ENSMUSG00000036678
AA Change: S511A

Domain	Start	End	E-Value	Type
WD40	136	179	3.7e0	SMART
WD40	181	221	4.75e1	SMART
WD40	232	273	1.17e-5	SMART
WD40	278	315	2.66e0	SMART
Blast:WD40	319	357	2e-15	BLAST
low complexity region	534	545	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113682

SMART Domains

Protein: ENSMUSP00000109312
Gene: ENSMUSG00000001285

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:UPF0160	45	365	1.5e-143	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164961

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170078

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170713

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171733

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230710

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229315

Predicted Effect

probably benign
Transcript: ENSMUST00000230406

Predicted Effect

probably benign
Transcript: ENSMUST00000230239

Predicted Effect

probably benign
Transcript: ENSMUST00000229900

Predicted Effect

probably benign
Transcript: ENSMUST00000230481

Predicted Effect

probably benign
Transcript: ENSMUST00000171244

SMART Domains

Protein: ENSMUSP00000129494
Gene: ENSMUSG00000001285

Domain	Start	End	E-Value	Type
Pfam:UPF0160	41	209	1.7e-76	PFAM
Pfam:UPF0160	204	306	3.3e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230812

Predicted Effect

silent
Transcript: ENSMUST00000228959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231099

Predicted Effect

probably benign
Transcript: ENSMUST00000231061

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygous null mice display female infertility, mildly decreased exploratory behavior, and decreased body weight, but have normal adrenocortical function and do not develop severe neurological abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	T	17: 24,615,444 (GRCm39)	T845I	probably benign	Het
Acaa2	G	A	18: 74,938,945 (GRCm39)	A377T	possibly damaging	Het
Adcy4	C	A	14: 56,009,824 (GRCm39)	E743*	probably null	Het
Ahnak	T	A	19: 8,990,458 (GRCm39)	L3914*	probably null	Het
Akap1	G	T	11: 88,736,343 (GRCm39)	N106K	possibly damaging	Het
Arid2	C	T	15: 96,270,387 (GRCm39)	T1500I	probably benign	Het
Atp6v0a2	T	A	5: 124,783,909 (GRCm39)	Y252*	probably null	Het
C4bp	A	G	1: 130,581,090 (GRCm39)	S140P	probably damaging	Het
Cald1	A	G	6: 34,739,047 (GRCm39)	I384M	probably damaging	Het
Cdk12	A	G	11: 98,101,809 (GRCm39)	I556V	unknown	Het
Chmp2a	T	C	7: 12,766,237 (GRCm39)	S174G	probably benign	Het
Clybl	T	A	14: 122,548,755 (GRCm39)	N52K	probably damaging	Het
Cyp4a29	C	A	4: 115,108,088 (GRCm39)	S303R	probably benign	Het
Dab2	T	A	15: 6,447,796 (GRCm39)	D59E	probably damaging	Het
Dag1	C	A	9: 108,086,214 (GRCm39)	R309L	probably damaging	Het
Dync1i2	T	A	2: 71,088,483 (GRCm39)	M505K	probably benign	Het
Eif2b1	A	T	5: 124,717,075 (GRCm39)	M1K	probably null	Het
Epc1	A	G	18: 6,448,917 (GRCm39)	S577P	probably benign	Het
Eps8l1	T	A	7: 4,463,945 (GRCm39)	I23N	possibly damaging	Het
Etl4	A	G	2: 20,535,037 (GRCm39)	E164G	probably damaging	Het
Firrm	C	A	1: 163,789,613 (GRCm39)	G641*	probably null	Het
Gadl1	A	T	9: 115,766,230 (GRCm39)	M1L	probably benign	Het
Gda	T	C	19: 21,374,908 (GRCm39)	D336G	probably damaging	Het
Grm2	A	T	9: 106,527,645 (GRCm39)	V413D	probably damaging	Het
Hnrnpll	G	T	17: 80,346,051 (GRCm39)	N403K	probably damaging	Het
Ifit1	T	A	19: 34,625,238 (GRCm39)	F125I	probably damaging	Het
Igkv5-43	C	T	6: 69,800,892 (GRCm39)	V2I	probably benign	Het
Kat5	A	C	19: 5,659,507 (GRCm39)	Y44*	probably null	Het
Klc2	A	G	19: 5,162,884 (GRCm39)	V205A	probably damaging	Het
Klrb1c	T	A	6: 128,761,706 (GRCm39)	T133S	possibly damaging	Het
Krt20	A	G	11: 99,326,283 (GRCm39)	L157P	probably damaging	Het
Krt26	G	T	11: 99,228,597 (GRCm39)	T45N	possibly damaging	Het
Lama2	C	T	10: 26,866,876 (GRCm39)	D2873N	probably damaging	Het
Lig1	T	A	7: 13,020,532 (GRCm39)	C114S	possibly damaging	Het
Lonp1	G	C	17: 56,927,263 (GRCm39)	A330G	probably benign	Het
Maml2	A	T	9: 13,608,616 (GRCm39)	R21S	probably damaging	Het
Mrpl35	C	T	6: 71,794,720 (GRCm39)	V83I	probably benign	Het
Myo3b	A	G	2: 70,069,254 (GRCm39)	R498G	probably benign	Het
Nup153	C	A	13: 46,837,482 (GRCm39)	E1247*	probably null	Het
Or2t48	A	T	11: 58,420,557 (GRCm39)	M85K	probably damaging	Het
Pcdhac2	A	G	18: 37,277,257 (GRCm39)	N79S	probably benign	Het
Pcgf6	C	T	19: 47,036,406 (GRCm39)	G221D	probably damaging	Het
Phf11b	C	T	14: 59,558,953 (GRCm39)	D260N	probably benign	Het
Pla2g5	T	C	4: 138,531,921 (GRCm39)	M28V	possibly damaging	Het
Prpf8	T	C	11: 75,395,927 (GRCm39)	S1934P	possibly damaging	Het
Prr5	A	G	15: 84,640,570 (GRCm39)	S140G	probably benign	Het
Prrc2c	T	C	1: 162,501,098 (GRCm39)	D1235G	probably damaging	Het
Rasgrp2	T	C	19: 6,455,031 (GRCm39)	S254P	probably damaging	Het
Rassf8	C	T	6: 145,765,907 (GRCm39)		probably benign	Het
Rgs20	T	A	1: 4,982,666 (GRCm39)	E167D	probably damaging	Het
Rmnd1	G	T	10: 4,372,159 (GRCm39)	A180E	probably damaging	Het
Rnf103	A	G	6: 71,486,992 (GRCm39)	D541G	probably benign	Het
Rpl9	G	T	5: 65,546,468 (GRCm39)	Q140K	probably benign	Het
Sfmbt1	T	G	14: 30,506,148 (GRCm39)		probably null	Het
Shank1	C	A	7: 43,962,160 (GRCm39)	D10E	unknown	Het
Srrm4	G	T	5: 116,587,672 (GRCm39)		probably benign	Het
Sucla2	T	A	14: 73,832,836 (GRCm39)	V447E	probably damaging	Het
Tbc1d1	A	G	5: 64,331,055 (GRCm39)	D78G	probably benign	Het
Tcp1	T	A	17: 13,138,224 (GRCm39)		probably null	Het
Tctn3	C	A	19: 40,597,361 (GRCm39)	E230*	probably null	Het
Thsd7b	G	A	1: 130,090,673 (GRCm39)		probably null	Het
Tmem63a	A	G	1: 180,797,811 (GRCm39)	M621V	probably benign	Het
Tnxb	A	T	17: 34,936,504 (GRCm39)	K2756*	probably null	Het
Trpm8	G	A	1: 88,287,373 (GRCm39)		probably null	Het
Txndc16	C	A	14: 45,373,335 (GRCm39)	V764F	possibly damaging	Het
Ush2a	A	T	1: 188,492,020 (GRCm39)	D3103V	possibly damaging	Het
Usp22	A	T	11: 61,049,206 (GRCm39)	I381N	probably damaging	Het
Zfp462	T	A	4: 55,013,464 (GRCm39)	M1810K	probably benign	Het
Zfp64	T	A	2: 168,741,888 (GRCm39)	M347L	possibly damaging	Het
Zfp69	T	C	4: 120,787,719 (GRCm39)	D532G	probably damaging	Het

Other mutations in Aaas

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00328:Aaas	APN	15	102,247,809 (GRCm39)	missense	possibly damaging	0.77
IGL01620:Aaas	APN	15	102,248,385 (GRCm39)	missense	probably damaging	1.00
IGL02337:Aaas	APN	15	102,247,662 (GRCm39)	missense	probably benign	0.01
IGL02608:Aaas	APN	15	102,247,627 (GRCm39)	missense	probably benign	0.00
IGL03024:Aaas	APN	15	102,258,926 (GRCm39)	splice site	probably benign
IGL03217:Aaas	APN	15	102,258,430 (GRCm39)	missense	probably damaging	1.00
IGL03273:Aaas	APN	15	102,258,430 (GRCm39)	missense	probably damaging	1.00
Shrinker	UTSW	15	102,255,111 (GRCm39)	critical splice donor site	probably null
R1545:Aaas	UTSW	15	102,247,641 (GRCm39)	missense	probably damaging	1.00
R1546:Aaas	UTSW	15	102,255,153 (GRCm39)	missense	probably benign	0.00
R1957:Aaas	UTSW	15	102,247,068 (GRCm39)	unclassified	probably benign
R1996:Aaas	UTSW	15	102,248,494 (GRCm39)	missense	probably benign	0.10
R1997:Aaas	UTSW	15	102,248,494 (GRCm39)	missense	probably benign	0.10
R3079:Aaas	UTSW	15	102,248,879 (GRCm39)	missense	probably damaging	0.99
R3715:Aaas	UTSW	15	102,248,771 (GRCm39)	missense	probably benign	0.01
R5427:Aaas	UTSW	15	102,248,385 (GRCm39)	missense	possibly damaging	0.94
R5586:Aaas	UTSW	15	102,255,111 (GRCm39)	critical splice donor site	probably null
R5969:Aaas	UTSW	15	102,258,999 (GRCm39)	missense	probably damaging	1.00
R6763:Aaas	UTSW	15	102,248,457 (GRCm39)	missense	probably null
R8230:Aaas	UTSW	15	102,246,904 (GRCm39)	missense	probably benign	0.03
R8698:Aaas	UTSW	15	102,247,250 (GRCm39)	critical splice donor site	probably benign
R8755:Aaas	UTSW	15	102,255,520 (GRCm39)	missense	probably benign	0.00
R9081:Aaas	UTSW	15	102,248,502 (GRCm39)	missense	probably damaging	1.00
R9283:Aaas	UTSW	15	102,258,499 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGGTCATCTTACACCCTAGC -3'
(R):5'- AACAAAGGGGCCTTGCTTAG -3'

Sequencing Primer
(F):5'- CAATACACTCGGAGTTACATCCTGG -3'
(R):5'- ACGTGCAGGTGTCTTCAGGAC -3'

Posted On

2016-11-08