Mutagenetix > Incidental Mutation

Incidental Mutation 'R0331:Aip'

26115

Institutional Source

Beutler Lab

Gene Symbol

Aip

Ensembl Gene

ENSMUSG00000024847

Gene Name

aryl-hydrocarbon receptor-interacting protein

Synonyms

Ara9, Xap2, Fkbp16, D19Bwg1412e

MMRRC Submission

038540-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0331 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4164446-4175858 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 4168247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 40 (T40K)

Ref Sequence

ENSEMBL: ENSMUSP00000114096 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025767] [ENSMUST00000049658] [ENSMUST00000100022] [ENSMUST00000117831] [ENSMUST00000121402]

AlphaFold

O08915

Predicted Effect

probably damaging
Transcript: ENSMUST00000025767
AA Change: T40K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025767
Gene: ENSMUSG00000024847
AA Change: T40K

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	26	155	5.3e-11	PFAM
PDB:4APO\|B	166	330	1e-113	PDB
SCOP:d1ihga1	170	322	1e-14	SMART
Blast:TPR	231	264	3e-7	BLAST
Blast:TPR	265	298	7e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000049658

SMART Domains

Protein: ENSMUSP00000054309
Gene: ENSMUSG00000024851

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	252	2e-145	PFAM
low complexity region	284	304	N/A	INTRINSIC
low complexity region	310	319	N/A	INTRINSIC
low complexity region	342	349	N/A	INTRINSIC
low complexity region	514	522	N/A	INTRINSIC
low complexity region	557	571	N/A	INTRINSIC
low complexity region	578	593	N/A	INTRINSIC
DDHD	685	879	5.94e-86	SMART
Blast:DDHD	880	963	2e-42	BLAST
LNS2	1022	1153	1.35e-57	SMART
low complexity region	1184	1195	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100022

SMART Domains

Protein: ENSMUSP00000097599
Gene: ENSMUSG00000024851

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	250	1.6e-113	PFAM
low complexity region	284	304	N/A	INTRINSIC
low complexity region	310	319	N/A	INTRINSIC
low complexity region	342	349	N/A	INTRINSIC
low complexity region	514	522	N/A	INTRINSIC
low complexity region	557	571	N/A	INTRINSIC
low complexity region	578	593	N/A	INTRINSIC
DDHD	685	879	5.94e-86	SMART
Blast:DDHD	880	963	2e-42	BLAST
LNS2	1022	1153	1.35e-57	SMART
low complexity region	1184	1195	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000117831
AA Change: T40K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113807
Gene: ENSMUSG00000024847
AA Change: T40K

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	26	155	1e-10	PFAM
PDB:4APO\|B	166	330	1e-113	PDB
SCOP:d1ihga1	170	322	1e-14	SMART
Blast:TPR	231	264	3e-7	BLAST
Blast:TPR	265	298	7e-7	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000121402
AA Change: T40K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114096
Gene: ENSMUSG00000024847
AA Change: T40K

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	26	155	1.5e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125596

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136043

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151957

Meta Mutation Damage Score

0.7742

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.8%
20x: 91.7%

Validation Efficiency

100% (81/81)

MGI Phenotype

FUNCTION: This gene encodes an Hsp90-associated protein that is localized to the cytoplasm. The encoded protein interacts with the aryl hydrocarbon receptor (AhR) and the tyrosine kinase receptor RET, inhibits AhR ubiquitination, and regulates the intracellular localization of AhR. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Homozygous mutation of this gene results in lethality from E10 to E19. Mice exhibit cardiac malformations such as double outlet right ventricle and ventricular septal defect and sometimes hemorrhage or petechiae. Mice homozygous for a hypomorphic allele exhibit patent ductus venosus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	A	8: 79,956,021 (GRCm39)	T79S	probably benign	Het
Abtb1	T	C	6: 88,817,684 (GRCm39)		probably benign	Het
Acot12	G	A	13: 91,908,183 (GRCm39)		probably null	Het
Adamts4	T	A	1: 171,078,541 (GRCm39)	S54T	probably benign	Het
Adgrl4	T	C	3: 151,203,577 (GRCm39)	S96P	probably benign	Het
Anapc4	A	G	5: 53,012,984 (GRCm39)		probably benign	Het
Asz1	A	G	6: 18,103,618 (GRCm39)		probably benign	Het
Atf7ip	A	G	6: 136,538,161 (GRCm39)	T465A	possibly damaging	Het
Atp11a	C	T	8: 12,866,953 (GRCm39)	Q127*	probably null	Het
Axin1	A	G	17: 26,362,081 (GRCm39)	R142G	probably damaging	Het
Bcat1	T	A	6: 144,993,040 (GRCm39)	E86V	probably benign	Het
Brd4	G	A	17: 32,421,489 (GRCm39)	P749L	probably benign	Het
C1ra	G	A	6: 124,496,394 (GRCm39)		probably null	Het
Capza2	A	T	6: 17,665,102 (GRCm39)	N237I	probably benign	Het
Cd2ap	A	T	17: 43,116,192 (GRCm39)	V556E	probably benign	Het
Cfap65	G	A	1: 74,968,460 (GRCm39)	P124L	probably damaging	Het
Cfap65	G	T	1: 74,968,461 (GRCm39)	P124T	probably damaging	Het
Cftr	T	C	6: 18,235,225 (GRCm39)	V488A	possibly damaging	Het
Ckmt1	A	T	2: 121,193,337 (GRCm39)		probably null	Het
Cmya5	T	G	13: 93,280,911 (GRCm39)	E35A	possibly damaging	Het
Col7a1	A	G	9: 108,796,570 (GRCm39)		probably benign	Het
Crmp1	C	T	5: 37,422,657 (GRCm39)	L155F	possibly damaging	Het
Cyp2d10	T	A	15: 82,291,227 (GRCm39)	T33S	probably benign	Het
Dhdh	T	C	7: 45,137,544 (GRCm39)	K48E	probably benign	Het
Dlst	T	C	12: 85,165,586 (GRCm39)	V103A	probably damaging	Het
Dohh	C	T	10: 81,223,646 (GRCm39)	T233I	probably benign	Het
Dvl2	C	A	11: 69,897,043 (GRCm39)		probably benign	Het
Eipr1	C	T	12: 28,914,703 (GRCm39)	Q286*	probably null	Het
Enpp6	C	A	8: 47,535,484 (GRCm39)	T343K	probably damaging	Het
Fbxw11	T	A	11: 32,661,895 (GRCm39)	F112I	probably damaging	Het
Gdpd4	T	A	7: 97,622,215 (GRCm39)	N231K	probably benign	Het
Gm6370	A	T	5: 146,430,576 (GRCm39)	T254S	probably benign	Het
Hapln4	G	T	8: 70,537,159 (GRCm39)	Q31H	probably damaging	Het
Hic1	T	A	11: 75,056,316 (GRCm39)	T858S	possibly damaging	Het
Isg20l2	T	C	3: 87,839,092 (GRCm39)	L101P	probably damaging	Het
Itga10	T	C	3: 96,559,799 (GRCm39)	Y485H	probably damaging	Het
Itgal	T	A	7: 126,905,853 (GRCm39)		probably null	Het
Itln1	T	C	1: 171,359,117 (GRCm39)	N62S	probably damaging	Het
Kdm4b	T	C	17: 56,693,289 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,226,479 (GRCm39)		probably benign	Het
Lman2	A	T	13: 55,500,829 (GRCm39)	H123Q	probably damaging	Het
Lztr1	T	A	16: 17,342,101 (GRCm39)		probably benign	Het
Myo3b	G	T	2: 69,925,605 (GRCm39)	G24V	probably damaging	Het
Nacad	T	A	11: 6,549,441 (GRCm39)	Q1250L	possibly damaging	Het
Ncor2	A	T	5: 125,161,981 (GRCm39)	M431K	unknown	Het
Nek9	T	A	12: 85,374,149 (GRCm39)		probably benign	Het
Neu1	C	A	17: 35,153,146 (GRCm39)	N255K	possibly damaging	Het
Nf2	T	A	11: 4,744,914 (GRCm39)	T75S	probably benign	Het
Nipal4	T	A	11: 46,041,040 (GRCm39)	D385V	probably damaging	Het
Olah	T	A	2: 3,343,511 (GRCm39)	N245I	probably damaging	Het
Or5p54	G	T	7: 107,554,077 (GRCm39)	L76F	probably benign	Het
Pag1	T	A	3: 9,767,030 (GRCm39)	T90S	probably benign	Het
Pald1	A	G	10: 61,176,708 (GRCm39)		probably null	Het
Parva	A	G	7: 112,144,005 (GRCm39)	M98V	probably benign	Het
Paxbp1	T	A	16: 90,834,255 (GRCm39)	D177V	possibly damaging	Het
Paxip1	A	G	5: 27,970,230 (GRCm39)	I587T	probably damaging	Het
Pclo	T	C	5: 14,730,390 (GRCm39)		probably benign	Het
Pdgfra	T	A	5: 75,355,713 (GRCm39)	D1074E	probably damaging	Het
Pef1	A	T	4: 130,021,241 (GRCm39)	D265V	probably damaging	Het
Plekhh2	G	A	17: 84,893,794 (GRCm39)	E870K	possibly damaging	Het
Plscr4	G	A	9: 92,364,695 (GRCm39)	G40D	probably damaging	Het
Psg18	A	G	7: 18,087,233 (GRCm39)	Y142H	probably benign	Het
Ptchd3	A	T	11: 121,733,017 (GRCm39)	M636L	probably benign	Het
Rab2a	A	G	4: 8,572,559 (GRCm39)	D51G	probably benign	Het
Rnf139	T	A	15: 58,771,755 (GRCm39)	D593E	probably benign	Het
Septin7	A	G	9: 25,217,552 (GRCm39)	N422S	probably benign	Het
Shprh	T	C	10: 11,069,914 (GRCm39)		probably benign	Het
Slc7a6os	A	G	8: 106,937,199 (GRCm39)	I87T	probably damaging	Het
Slc7a7	A	G	14: 54,615,381 (GRCm39)		probably benign	Het
Spc24	G	T	9: 21,668,609 (GRCm39)	N129K	possibly damaging	Het
Strip2	C	T	6: 29,926,559 (GRCm39)	T148I	probably benign	Het
Tmem150c	A	C	5: 100,234,132 (GRCm39)		probably null	Het
Trav13-5	A	G	14: 54,033,205 (GRCm39)	N38S	probably benign	Het
Ttn	G	T	2: 76,641,364 (GRCm39)	Y11801*	probably null	Het
Usp37	A	T	1: 74,493,223 (GRCm39)	L688*	probably null	Het
Usp38	T	C	8: 81,722,469 (GRCm39)	I351V	probably benign	Het
Vav2	T	A	2: 27,186,187 (GRCm39)	M223L	probably benign	Het
Wdr36	A	G	18: 32,985,968 (GRCm39)	I557M	possibly damaging	Het
Wwc2	A	T	8: 48,333,239 (GRCm39)	M259K	probably benign	Het
Znfx1	G	A	2: 166,888,898 (GRCm39)	S770L	probably benign	Het

Other mutations in Aip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01959:Aip	APN	19	4,171,397 (GRCm39)	missense	probably damaging	0.99
R2244:Aip	UTSW	19	4,164,796 (GRCm39)	missense	probably benign
R5219:Aip	UTSW	19	4,165,180 (GRCm39)	missense	probably benign	0.06
R5840:Aip	UTSW	19	4,166,010 (GRCm39)	missense	possibly damaging	0.64
R6167:Aip	UTSW	19	4,165,188 (GRCm39)	missense	probably benign	0.30
R6642:Aip	UTSW	19	4,165,149 (GRCm39)	missense	probably damaging	1.00
R6815:Aip	UTSW	19	4,166,066 (GRCm39)	missense	probably benign
R7016:Aip	UTSW	19	4,171,402 (GRCm39)	missense	probably benign	0.00
R7097:Aip	UTSW	19	4,165,381 (GRCm39)	missense	probably benign	0.02
R7316:Aip	UTSW	19	4,164,793 (GRCm39)	missense	probably benign	0.03
R8025:Aip	UTSW	19	4,165,346 (GRCm39)	missense	probably benign	0.16
R8374:Aip	UTSW	19	4,165,456 (GRCm39)	missense	probably damaging	1.00
R8444:Aip	UTSW	19	4,166,034 (GRCm39)	missense	probably damaging	1.00
R9517:Aip	UTSW	19	4,168,217 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CAGAGCATGTCCCAGAACTGTTACC -3'
(R):5'- GAAACAGGCTTTGTCCTGTCTCCC -3'

Sequencing Primer
(F):5'- ATGTCCCAGAACTGTTACCTTGATG -3'
(R):5'- GTTACACAGCTCTCACTGAGATG -3'

Posted On

2013-04-16