Mutagenetix > Incidental Mutation

Incidental Mutation 'R5969:Aaas'

470768

Institutional Source

Beutler Lab

Gene Symbol

Aaas

Ensembl Gene

ENSMUSG00000036678

Gene Name

achalasia, adrenocortical insufficiency, alacrimia

Synonyms

GL003, D030041N15Rik, Aladin

MMRRC Submission

044152-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.429) question?

Stock #

R5969 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102246682-102259194 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 102258999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 19 (Y19D)

Ref Sequence

ENSEMBL: ENSMUSP00000155757 (fasta)

Gene Model

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

AlphaFold

P58742

Predicted Effect

probably damaging
Transcript: ENSMUST00000041208
AA Change: Y19D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000044604
Gene: ENSMUSG00000036678
AA Change: Y19D

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

noncoding transcript
Transcript: ENSMUST00000229315

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229589

Predicted Effect

probably benign
Transcript: ENSMUST00000229900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230349

Predicted Effect

probably benign
Transcript: ENSMUST00000230481

Predicted Effect

probably damaging
Transcript: ENSMUST00000231061
AA Change: Y19D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230710

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230812

Meta Mutation Damage Score

0.1519

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.2%

Validation Efficiency

99% (67/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,242,214 (GRCm39)	L1359*	probably null	Het
Ahi1	A	T	10: 20,860,292 (GRCm39)	D671V	probably damaging	Het
Ahnak	T	C	19: 8,993,949 (GRCm39)	S5078P	probably damaging	Het
Ankhd1	A	T	18: 36,733,887 (GRCm39)	T584S	probably damaging	Het
Apba2	T	A	7: 64,394,195 (GRCm39)	L568*	probably null	Het
Cenpn	C	A	8: 117,667,276 (GRCm39)	L300I	probably damaging	Het
Cmya5	A	T	13: 93,226,052 (GRCm39)	L3012Q	possibly damaging	Het
Cnnm1	T	C	19: 43,479,911 (GRCm39)	S819P	probably damaging	Het
Cpa6	A	T	1: 10,559,108 (GRCm39)	S87T	probably benign	Het
Crybg2	T	A	4: 133,803,003 (GRCm39)		probably null	Het
Csmd1	T	A	8: 16,121,367 (GRCm39)	T1777S	probably benign	Het
Csmd3	G	T	15: 47,811,386 (GRCm39)	P1235Q	probably damaging	Het
Cxcr4	T	A	1: 128,517,584 (GRCm39)	N24Y	probably benign	Het
D630003M21Rik	G	T	2: 158,059,628 (GRCm39)	H91N	probably damaging	Het
Ece1	T	C	4: 137,689,051 (GRCm39)		probably null	Het
Edc3	T	C	9: 57,620,711 (GRCm39)	S11P	probably damaging	Het
Eif1ad14	T	C	12: 87,886,248 (GRCm39)	D127G	unknown	Het
Exoc3	G	A	13: 74,320,305 (GRCm39)	Q719*	probably null	Het
Fam13a	A	G	6: 58,942,183 (GRCm39)	M203T	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fhip2a	C	T	19: 57,372,555 (GRCm39)	R602*	probably null	Het
Fxyd2	T	A	9: 45,319,628 (GRCm39)	I30N	probably damaging	Het
Gapt	A	G	13: 110,490,480 (GRCm39)	V61A	probably benign	Het
Glb1l2	C	T	9: 26,692,038 (GRCm39)	A74T	probably damaging	Het
Gpr35	T	C	1: 92,910,942 (GRCm39)	V2A	probably damaging	Het
Gtf3c1	A	G	7: 125,244,848 (GRCm39)	S1729P	possibly damaging	Het
Heatr5a	T	C	12: 52,005,823 (GRCm39)	T51A	probably benign	Het
Kat6b	G	A	14: 21,720,860 (GRCm39)	M1737I	probably damaging	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Klk10	A	G	7: 43,434,409 (GRCm39)	Y267C	probably damaging	Het
Lgmn	T	C	12: 102,372,086 (GRCm39)	Y98C	probably damaging	Het
Lyst	A	C	13: 13,862,398 (GRCm39)		probably null	Het
Man2a1	A	G	17: 64,932,375 (GRCm39)	K154R	probably benign	Het
Mfng	A	T	15: 78,648,582 (GRCm39)	V165D	possibly damaging	Het
Mto1	A	G	9: 78,360,187 (GRCm39)	E225G	probably damaging	Het
Notch3	C	A	17: 32,372,858 (GRCm39)	C571F	probably damaging	Het
Nup205	C	T	6: 35,154,513 (GRCm39)		probably benign	Het
Or51b6	T	A	7: 103,556,117 (GRCm39)	I157N	probably damaging	Het
P2ry14	T	A	3: 59,022,579 (GRCm39)	I303F	probably damaging	Het
Pcnx3	T	C	19: 5,735,563 (GRCm39)	D421G	probably damaging	Het
Pdlim4	T	C	11: 53,954,482 (GRCm39)	H75R	possibly damaging	Het
Phf21a	A	T	2: 92,051,956 (GRCm39)	H17L	probably damaging	Het
Ppid	T	A	3: 79,505,024 (GRCm39)	N122K	probably damaging	Het
Ppp4r3a	T	C	12: 101,009,838 (GRCm39)	I613V	probably benign	Het
Prcp	C	T	7: 92,566,974 (GRCm39)	P229S	probably benign	Het
Ralgds	T	C	2: 28,432,426 (GRCm39)	V85A	probably damaging	Het
Rgs22	G	A	15: 36,015,782 (GRCm39)	T1034I	probably benign	Het
Slc4a3	T	C	1: 75,526,623 (GRCm39)	V48A	probably damaging	Het
Snx16	A	T	3: 10,503,217 (GRCm39)	M10K	possibly damaging	Het
Svep1	G	A	4: 58,070,977 (GRCm39)	Q2270*	probably null	Het
Tmem185b	T	G	1: 119,455,193 (GRCm39)	I318S	probably benign	Het
Tnik	C	T	3: 28,675,097 (GRCm39)	R657C	probably damaging	Het
Top3b	T	C	16: 16,701,429 (GRCm39)		probably null	Het
Trim40	C	T	17: 37,193,319 (GRCm39)	R203H	probably benign	Het
Triobp	T	A	15: 78,851,740 (GRCm39)	N631K	probably benign	Het
Ubr3	T	G	2: 69,809,730 (GRCm39)	Y1233*	probably null	Het
Vgll3	A	G	16: 65,636,449 (GRCm39)	D200G	probably damaging	Het
Vmn2r24	G	A	6: 123,755,981 (GRCm39)	E18K	probably benign	Het
Zfp141	C	A	7: 42,138,912 (GRCm39)	R40L	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
R5620:Aaas	UTSW	15	102,246,826 (GRCm39)	missense	probably benign	0.00
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'- TGCCTAACTGGGTAACACAGG -3'
(R):5'- GTCGTTTGTCCTGTACGGCTAC -3'

Sequencing Primer
(F):5'- CACAGGCCCTAAAATATATTTCGTTC -3'
(R):5'- TACCCGTCCTCACACGAATCTAG -3'

Posted On

2017-03-31