Mutagenetix > Incidental Mutation

Incidental Mutation 'R1996:Aaas'

225785

Institutional Source

Beutler Lab

Gene Symbol

Aaas

Ensembl Gene

ENSMUSG00000036678

Gene Name

achalasia, adrenocortical insufficiency, alacrimia

Synonyms

GL003, D030041N15Rik, Aladin

MMRRC Submission

040006-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.501) question?

Stock #

R1996 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102246682-102259194 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 102248494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 241 (V241I)

Ref Sequence

ENSEMBL: ENSMUSP00000155757 (fasta)

Gene Model

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

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: V274I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000044604
Gene: ENSMUSG00000036678
AA Change: V274I

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

probably benign
Transcript: ENSMUST00000231061
AA Change: V241I

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000230406

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: ENSMUST00000229589

Predicted Effect

probably benign
Transcript: ENSMUST00000229900

Predicted Effect

probably benign
Transcript: ENSMUST00000228959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229315

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230710

Predicted Effect

probably benign
Transcript: ENSMUST00000230239

Meta Mutation Damage Score

0.1010

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

99% (84/85)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,646,556 (GRCm39)	W1069R	probably damaging	Het
Abca3	A	G	17: 24,606,506 (GRCm39)	E787G	probably damaging	Het
Abi3bp	A	T	16: 56,491,720 (GRCm39)	E582D	possibly damaging	Het
Adam21	A	G	12: 81,606,376 (GRCm39)	M462T	possibly damaging	Het
Alox12e	T	C	11: 70,207,034 (GRCm39)	T591A	probably benign	Het
Ankmy2	T	C	12: 36,243,796 (GRCm39)	M337T	probably benign	Het
Antxrl	A	G	14: 33,797,786 (GRCm39)	N587S	probably benign	Het
Apol6	T	A	15: 76,934,956 (GRCm39)	I75N	probably benign	Het
Atad2b	A	T	12: 5,040,883 (GRCm39)	H184L	probably benign	Het
Atf6b	A	T	17: 34,871,961 (GRCm39)		probably null	Het
B3gnt4	G	A	5: 123,649,402 (GRCm39)	V256I	probably damaging	Het
BC034090	C	T	1: 155,097,340 (GRCm39)		probably benign	Het
Bend4	C	A	5: 67,557,527 (GRCm39)	V430F	probably damaging	Het
Camkv	A	G	9: 107,824,320 (GRCm39)	D244G	probably damaging	Het
Caps2	T	A	10: 112,039,908 (GRCm39)	L450Q	probably damaging	Het
Ccr1	T	A	9: 123,763,551 (GRCm39)	K326N	probably benign	Het
Cep135	T	C	5: 76,780,113 (GRCm39)	I815T	probably benign	Het
Chchd4	A	G	6: 91,442,116 (GRCm39)	Y101H	probably damaging	Het
Copb1	G	C	7: 113,831,438 (GRCm39)	A570G	probably benign	Het
Cpsf2	C	A	12: 101,964,867 (GRCm39)	T505K	probably benign	Het
Cwf19l2	A	G	9: 3,417,947 (GRCm39)	R136G	probably benign	Het
Daxx	A	G	17: 34,132,585 (GRCm39)	T572A	possibly damaging	Het
Etaa1	C	A	11: 17,902,671 (GRCm39)	D89Y	probably damaging	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fchsd2	T	C	7: 100,927,660 (GRCm39)	F701L	probably benign	Het
Fstl5	A	T	3: 76,615,141 (GRCm39)	H734L	probably benign	Het
Gabbr1	T	A	17: 37,380,112 (GRCm39)	W584R	probably damaging	Het
Galc	T	C	12: 98,218,285 (GRCm39)	D189G	probably damaging	Het
Gm9979	T	C	13: 40,859,228 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 136,021,209 (GRCm39)	S31G	possibly damaging	Het
Gtf2ird1	T	C	5: 134,405,740 (GRCm39)		probably benign	Het
Hoxc4	T	C	15: 102,944,183 (GRCm39)	I187T	probably damaging	Het
Hsd3b6	A	T	3: 98,713,597 (GRCm39)	I234N	probably damaging	Het
Ifit3b	T	C	19: 34,588,877 (GRCm39)	C18R	probably damaging	Het
Igdcc4	T	A	9: 65,029,101 (GRCm39)	V246E	probably damaging	Het
Il1rap	A	T	16: 26,541,243 (GRCm39)	T495S	probably benign	Het
Kctd19	T	C	8: 106,121,932 (GRCm39)	E205G	probably null	Het
Kif21a	A	T	15: 90,878,574 (GRCm39)	C235*	probably null	Het
Krt16	A	T	11: 100,139,614 (GRCm39)	S35T	unknown	Het
Lamc2	T	C	1: 153,030,216 (GRCm39)	D142G	possibly damaging	Het
Larp4	G	T	15: 99,882,844 (GRCm39)	W22L	probably damaging	Het
Ldlrad1	C	T	4: 107,072,158 (GRCm39)	R127*	probably null	Het
Mamdc2	G	A	19: 23,341,289 (GRCm39)	Q229*	probably null	Het
Mbtd1	CT	CTT	11: 93,823,222 (GRCm39)		probably null	Het
Msln	T	A	17: 25,973,193 (GRCm39)	M1L	possibly damaging	Het
Mtch2	T	C	2: 90,677,665 (GRCm39)	V8A	possibly damaging	Het
Nav3	A	T	10: 109,689,262 (GRCm39)	N338K	probably damaging	Het
Or10x4	T	C	1: 174,218,983 (GRCm39)	M116T	probably damaging	Het
Or51a39	A	G	7: 102,362,999 (GRCm39)	L207P	probably damaging	Het
Or6c5	C	A	10: 129,074,298 (GRCm39)	N93K	possibly damaging	Het
Otof	A	G	5: 30,578,381 (GRCm39)	V89A	probably benign	Het
Phka2	T	C	X: 159,324,411 (GRCm39)	I255T	probably benign	Het
Pias2	T	C	18: 77,216,759 (GRCm39)		probably null	Het
Pja2	T	A	17: 64,594,639 (GRCm39)		probably null	Het
Plxnb2	C	T	15: 89,042,971 (GRCm39)	V1473I	probably benign	Het
Pnpt1	T	A	11: 29,091,679 (GRCm39)	D363E	probably benign	Het
Prdm5	A	G	6: 65,913,072 (GRCm39)	Y207C	probably damaging	Het
Rexo5	T	A	7: 119,423,080 (GRCm39)	V304E	probably damaging	Het
Robo1	G	T	16: 72,767,067 (GRCm39)	R413L	probably benign	Het
Rsf1	G	A	7: 97,313,839 (GRCm39)	E864K	probably damaging	Het
Scap	C	T	9: 110,202,039 (GRCm39)		probably benign	Het
Scn8a	T	A	15: 100,922,260 (GRCm39)	M1311K	probably damaging	Het
Slc28a2	A	T	2: 122,286,043 (GRCm39)	I460F	probably damaging	Het
Smco1	A	G	16: 32,092,730 (GRCm39)	R134G	probably benign	Het
Spopfm1	A	T	3: 94,173,018 (GRCm39)	M9L	probably benign	Het
Sspo	A	G	6: 48,452,424 (GRCm39)	E2651G	possibly damaging	Het
Stab2	T	C	10: 86,838,895 (GRCm39)	N57S	probably damaging	Het
Tenm3	C	A	8: 48,681,703 (GRCm39)	Q2642H	probably damaging	Het
Thsd7b	G	T	1: 129,686,188 (GRCm39)	E577*	probably null	Het
Tlr3	A	G	8: 45,850,734 (GRCm39)	V721A	probably benign	Het
Tnik	A	G	3: 28,719,829 (GRCm39)	I1226V	probably damaging	Het
Traf3	A	G	12: 111,227,095 (GRCm39)	K328E	probably benign	Het
Tyw1	T	A	5: 130,291,652 (GRCm39)		probably benign	Het
Vmn1r213	T	G	13: 23,196,473 (GRCm39)	V352G	probably benign	Het
Vmn2r111	T	C	17: 22,767,062 (GRCm39)	I812V	probably benign	Het
Vmn2r26	A	G	6: 124,038,144 (GRCm39)	N573S	probably damaging	Het
Vmn2r45	G	A	7: 8,475,024 (GRCm39)	T668I	probably damaging	Het
Zbtb20	T	A	16: 43,430,443 (GRCm39)	V318E	probably damaging	Het
Zc2hc1c	A	G	12: 85,343,434 (GRCm39)	R524G	probably benign	Het
Zc3h18	C	G	8: 123,134,126 (GRCm39)		probably benign	Het
Zfp618	T	C	4: 63,049,452 (GRCm39)		probably null	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
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
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'- ATTACAGCAGGGCCTTCAGG -3'
(R):5'- GAGTTTCAGCTGAGCTCTGC -3'

Sequencing Primer
(F):5'- TGGACTGGCCGGGAAGTG -3'
(R):5'- GCCAGCTATCACTGTGATCTTAAAC -3'

Posted On

2014-08-25