Mutagenetix > Incidental Mutation

Incidental Mutation 'R6815:Aip'

537307

Institutional Source

Beutler Lab

Gene Symbol

Aip

Ensembl Gene

ENSMUSG00000024847

Gene Name

aryl-hydrocarbon receptor-interacting protein

Synonyms

Ara9, Xap2, Fkbp16, D19Bwg1412e

MMRRC Submission

044927-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6815 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4164446-4175858 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4166066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 128 (H128Q)

Ref Sequence

ENSEMBL: ENSMUSP00000114096 (fasta)

Gene Model

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

AlphaFold

O08915

Predicted Effect

probably benign
Transcript: ENSMUST00000025767
AA Change: H128Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025767
Gene: ENSMUSG00000024847
AA Change: H128Q

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 benign
Transcript: ENSMUST00000117831
AA Change: H128Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113807
Gene: ENSMUSG00000024847
AA Change: H128Q

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 benign
Transcript: ENSMUST00000121402
AA Change: H128Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114096
Gene: ENSMUSG00000024847
AA Change: H128Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	G	14: 54,828,610 (GRCm39)	N297T	probably damaging	Het
6820408C15Rik	A	G	2: 152,282,975 (GRCm39)	N251S	probably benign	Het
Abcc5	T	C	16: 20,152,380 (GRCm39)	T1389A	probably damaging	Het
Acad11	A	G	9: 103,958,526 (GRCm39)	T265A	probably benign	Het
Ace3	C	T	11: 105,888,084 (GRCm39)	Q302*	probably null	Het
Akr1b7	A	T	6: 34,389,269 (GRCm39)		probably null	Het
Arid4a	T	A	12: 71,063,856 (GRCm39)		probably null	Het
Armh1	T	A	4: 117,087,134 (GRCm39)	H177L	probably damaging	Het
Aspm	A	G	1: 139,407,880 (GRCm39)	T2256A	probably benign	Het
Bco1	A	T	8: 117,840,261 (GRCm39)	M260L	probably benign	Het
Ccdc110	A	G	8: 46,395,024 (GRCm39)	N305S	probably benign	Het
Ccdc158	T	A	5: 92,760,345 (GRCm39)	Y1035F	probably damaging	Het
Cd180	C	T	13: 102,841,937 (GRCm39)	L328F	probably damaging	Het
Cntrl	T	C	2: 35,039,503 (GRCm39)	L1121P	probably damaging	Het
Cyp2u1	A	C	3: 131,091,659 (GRCm39)	I287S	probably damaging	Het
Dnah3	C	T	7: 119,570,950 (GRCm39)	M2195I	probably benign	Het
Dnajc21	C	T	15: 10,447,777 (GRCm39)		probably null	Het
Dock10	C	T	1: 80,516,576 (GRCm39)	V1398M	possibly damaging	Het
Dpy19l3	T	A	7: 35,449,272 (GRCm39)	I44F	possibly damaging	Het
Dst	C	A	1: 34,267,450 (GRCm39)	T4964K	possibly damaging	Het
Ercc4	T	C	16: 12,941,299 (GRCm39)	I139T	probably damaging	Het
Gpr4	T	A	7: 18,956,560 (GRCm39)	F161I	probably damaging	Het
Gucy2e	A	C	11: 69,122,827 (GRCm39)	L516R	possibly damaging	Het
Hdhd5	A	G	6: 120,498,170 (GRCm39)	V143A	probably benign	Het
Heatr4	T	A	12: 84,026,501 (GRCm39)	Q252L	probably damaging	Het
Heatr5a	T	G	12: 52,002,291 (GRCm39)	D215A	possibly damaging	Het
Hipk2	G	T	6: 38,795,777 (GRCm39)	A164D	probably damaging	Het
Igsf11	A	G	16: 38,829,243 (GRCm39)	I46V	probably benign	Het
Iqgap1	C	T	7: 80,416,632 (GRCm39)		probably null	Het
Lrig1	A	G	6: 94,602,010 (GRCm39)	L281P	probably damaging	Het
Or10p22	A	G	10: 128,826,191 (GRCm39)	S137G	probably benign	Het
Or7g32	G	T	9: 19,389,061 (GRCm39)	H159N	probably benign	Het
Pcdha7	A	G	18: 37,108,174 (GRCm39)	T400A	probably damaging	Het
Pde5a	A	G	3: 122,618,573 (GRCm39)	T629A	probably benign	Het
Pkhd1l1	A	G	15: 44,426,051 (GRCm39)	D3204G	probably damaging	Het
Prkd2	T	C	7: 16,577,718 (GRCm39)	F57S	probably benign	Het
Prr15l	T	C	11: 96,825,433 (GRCm39)	V21A	probably damaging	Het
Rag2	T	A	2: 101,460,900 (GRCm39)	N403K	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rtl1	C	A	12: 109,560,937 (GRCm39)	D301Y	probably damaging	Het
Septin14	T	C	5: 129,770,051 (GRCm39)	N215S	probably benign	Het
Sin3a	T	A	9: 57,024,824 (GRCm39)	D1061E	probably benign	Het
Skint5	T	A	4: 113,574,324 (GRCm39)		probably null	Het
Stox2	A	T	8: 47,646,136 (GRCm39)	D441E	probably damaging	Het
Tmem52b	G	A	6: 129,493,705 (GRCm39)		probably null	Het
Tpm3-rs7	A	G	14: 113,552,292 (GRCm39)	E62G	probably benign	Het
Trim54	G	T	5: 31,291,424 (GRCm39)	V182L	probably damaging	Het
Trmt6	A	C	2: 132,651,778 (GRCm39)	V214G	probably damaging	Het
Ttc21b	T	C	2: 66,057,134 (GRCm39)	S613G	probably benign	Het
Ttll4	C	A	1: 74,718,508 (GRCm39)	R120S	possibly damaging	Het
Wdr41	A	T	13: 95,154,682 (GRCm39)	K354N	probably damaging	Het
Zfp652	A	T	11: 95,640,230 (GRCm39)	K52*	probably null	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
R0331:Aip	UTSW	19	4,168,247 (GRCm39)	missense	probably damaging	1.00
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
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'- GCATAGGTGATCAATGAGGCC -3'
(R):5'- CACGGTGATGGTGAGACTTC -3'

Sequencing Primer
(F):5'- AGAGGCTTCCACAGTTTTCC -3'
(R):5'- GTGAGACTTCTCTGGTGCCC -3'

Posted On

2018-10-18