Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03092:Aqr'

418423

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aqr

Ensembl Gene

ENSMUSG00000040383

Gene Name

aquarius

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03092

Quality Score

Status

Chromosome

Chromosomal Location

114101170-114187024 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114158943 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 133 (E133V)

Ref Sequence

ENSEMBL: ENSMUSP00000047157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043160] [ENSMUST00000102543]

AlphaFold

Q8CFQ3

Predicted Effect

probably benign
Transcript: ENSMUST00000043160
AA Change: E133V

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000047157
Gene: ENSMUSG00000040383
AA Change: E133V

Domain	Start	End	E-Value	Type
Pfam:Aquarius_N	18	802	N/A	PFAM
Pfam:ResIII	797	911	8.2e-7	PFAM
Pfam:AAA_11	801	1111	9.6e-32	PFAM
Pfam:AAA_19	807	894	3.7e-11	PFAM
Pfam:AAA_12	1119	1312	2.1e-27	PFAM
low complexity region	1394	1417	N/A	INTRINSIC
low complexity region	1455	1468	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102543
AA Change: E133V

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099602
Gene: ENSMUSG00000040383
AA Change: E133V

Domain	Start	End	E-Value	Type
low complexity region	43	56	N/A	INTRINSIC
low complexity region	112	124	N/A	INTRINSIC
low complexity region	762	776	N/A	INTRINSIC
Pfam:AAA_11	801	1111	3.2e-32	PFAM
Pfam:AAA_19	807	893	6.5e-11	PFAM
Pfam:AAA_12	1119	1312	2.6e-27	PFAM
low complexity region	1348	1359	N/A	INTRINSIC
low complexity region	1371	1382	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125460

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129504

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131785

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation exhibit severe defects in placental vascularization with few vessels entering the placenta and little branching. Mutants die between embryonic days 9.5 and 10.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,406,470 (GRCm38)	L491P	probably damaging	Het
5430419D17Rik	G	T	7: 131,201,798 (GRCm38)		probably null	Het
Abcc6	T	A	7: 45,986,470 (GRCm38)	D1051V	probably damaging	Het
Bag6	A	G	17: 35,145,627 (GRCm38)	N911D	probably damaging	Het
BC024978	T	C	7: 27,201,136 (GRCm38)	M180T	probably damaging	Het
Ces4a	C	T	8: 105,148,204 (GRCm38)		probably benign	Het
Clec3b	A	T	9: 123,151,035 (GRCm38)		probably benign	Het
Cnot1	T	C	8: 95,769,615 (GRCm38)		probably benign	Het
Ctsg	T	A	14: 56,099,960 (GRCm38)	*262L	probably null	Het
Cyp17a1	T	A	19: 46,672,611 (GRCm38)	H78L	possibly damaging	Het
Dcaf13	C	A	15: 39,127,976 (GRCm38)		probably benign	Het
Dcun1d1	G	T	3: 35,920,992 (GRCm38)	Q52K	possibly damaging	Het
Ddb1	C	T	19: 10,612,945 (GRCm38)	R279W	probably damaging	Het
Dock1	A	G	7: 134,765,216 (GRCm38)		probably benign	Het
Dsel	A	G	1: 111,860,063 (GRCm38)	L914P	probably damaging	Het
Fbxo31	A	G	8: 121,560,018 (GRCm38)	F174L	probably benign	Het
Gm9116	A	G	3: 93,910,206 (GRCm38)		noncoding transcript	Het
Gspt1	C	T	16: 11,238,899 (GRCm38)	V211I	probably benign	Het
Hmgb1	A	T	5: 149,050,698 (GRCm38)	S14T	probably benign	Het
Igsf8	A	G	1: 172,312,529 (GRCm38)		probably benign	Het
Klf13	A	G	7: 63,891,669 (GRCm38)	F237L	probably damaging	Het
Mon2	A	T	10: 123,018,100 (GRCm38)	I962N	probably damaging	Het
Nfx1	A	G	4: 41,024,851 (GRCm38)	D1108G	probably damaging	Het
Nr2e1	T	C	10: 42,571,482 (GRCm38)	Y178C	probably damaging	Het
Olfr1426	C	A	19: 12,087,866 (GRCm38)	E309*	probably null	Het
Olfr646	A	T	7: 104,106,647 (GRCm38)	I123F	probably damaging	Het
Pde3b	A	T	7: 114,523,348 (GRCm38)	H717L	probably damaging	Het
Polr1b	T	C	2: 129,123,129 (GRCm38)	Y712H	probably damaging	Het
Pramef25	C	A	4: 143,950,197 (GRCm38)	K112N	probably damaging	Het
Rnf157	T	A	11: 116,347,969 (GRCm38)		probably null	Het
Ros1	T	C	10: 52,098,806 (GRCm38)	E1561G	probably damaging	Het
Serpina6	A	G	12: 103,653,895 (GRCm38)		probably null	Het
St18	A	G	1: 6,768,894 (GRCm38)		probably benign	Het
Ugp2	A	G	11: 21,329,722 (GRCm38)		probably benign	Het
Vmn1r70	T	C	7: 10,634,259 (GRCm38)	S225P	probably benign	Het
Zfp641	T	C	15: 98,290,516 (GRCm38)	D161G	probably damaging	Het

Other mutations in Aqr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Aqr	APN	2	114,125,942 (GRCm38)	missense	possibly damaging	0.90
IGL00694:Aqr	APN	2	114,151,525 (GRCm38)	missense	probably damaging	1.00
IGL02113:Aqr	APN	2	114,120,027 (GRCm38)	nonsense	probably null
IGL02297:Aqr	APN	2	114,150,481 (GRCm38)	missense	probably benign	0.24
IGL02380:Aqr	APN	2	114,109,936 (GRCm38)	missense	probably damaging	1.00
IGL02410:Aqr	APN	2	114,136,917 (GRCm38)	missense	possibly damaging	0.85
IGL02413:Aqr	APN	2	114,118,780 (GRCm38)	missense	possibly damaging	0.87
IGL02474:Aqr	APN	2	114,112,646 (GRCm38)	missense	probably damaging	1.00
IGL02941:Aqr	APN	2	114,113,354 (GRCm38)	missense	probably damaging	1.00
IGL02981:Aqr	APN	2	114,134,824 (GRCm38)	splice site	probably benign
IGL03001:Aqr	APN	2	114,146,919 (GRCm38)	missense	probably benign
IGL03222:Aqr	APN	2	114,121,256 (GRCm38)	missense	probably damaging	1.00
capricorn	UTSW	2	114,105,882 (GRCm38)	missense	probably damaging	1.00
Goat	UTSW	2	114,157,575 (GRCm38)	missense	probably damaging	1.00
Pliades	UTSW	2	114,132,976 (GRCm38)	missense	probably damaging	1.00
sagittarius	UTSW	2	114,149,016 (GRCm38)	missense	probably damaging	1.00
Zodiac	UTSW	2	114,108,109 (GRCm38)	missense	probably damaging	0.96
PIT4531001:Aqr	UTSW	2	114,130,734 (GRCm38)	missense	possibly damaging	0.94
R0103:Aqr	UTSW	2	114,149,016 (GRCm38)	missense	probably damaging	1.00
R0103:Aqr	UTSW	2	114,149,016 (GRCm38)	missense	probably damaging	1.00
R0152:Aqr	UTSW	2	114,159,010 (GRCm38)	missense	probably benign	0.07
R0352:Aqr	UTSW	2	114,170,052 (GRCm38)	missense	probably damaging	1.00
R0371:Aqr	UTSW	2	114,157,604 (GRCm38)	missense	possibly damaging	0.80
R0374:Aqr	UTSW	2	114,130,611 (GRCm38)	missense	probably damaging	1.00
R0550:Aqr	UTSW	2	114,132,976 (GRCm38)	missense	probably damaging	1.00
R0604:Aqr	UTSW	2	114,130,604 (GRCm38)	missense	probably benign	0.00
R0685:Aqr	UTSW	2	114,140,977 (GRCm38)	missense	probably damaging	1.00
R1236:Aqr	UTSW	2	114,116,655 (GRCm38)	missense	probably damaging	1.00
R1434:Aqr	UTSW	2	114,150,409 (GRCm38)	missense	probably damaging	1.00
R1806:Aqr	UTSW	2	114,161,652 (GRCm38)	missense	probably damaging	1.00
R2154:Aqr	UTSW	2	114,137,004 (GRCm38)	missense	probably damaging	1.00
R2185:Aqr	UTSW	2	114,130,534 (GRCm38)	critical splice donor site	probably null
R2377:Aqr	UTSW	2	114,140,940 (GRCm38)	missense	possibly damaging	0.58
R2862:Aqr	UTSW	2	114,136,917 (GRCm38)	missense	probably damaging	1.00
R3615:Aqr	UTSW	2	114,136,887 (GRCm38)	missense	probably damaging	1.00
R3616:Aqr	UTSW	2	114,136,887 (GRCm38)	missense	probably damaging	1.00
R3713:Aqr	UTSW	2	114,118,669 (GRCm38)	splice site	probably benign
R3715:Aqr	UTSW	2	114,118,669 (GRCm38)	splice site	probably benign
R4586:Aqr	UTSW	2	114,112,577 (GRCm38)	missense	probably benign	0.06
R4663:Aqr	UTSW	2	114,161,666 (GRCm38)	nonsense	probably null
R4809:Aqr	UTSW	2	114,175,214 (GRCm38)	utr 5 prime	probably benign
R4887:Aqr	UTSW	2	114,150,509 (GRCm38)	missense	probably damaging	1.00
R4888:Aqr	UTSW	2	114,150,509 (GRCm38)	missense	probably damaging	1.00
R4952:Aqr	UTSW	2	114,109,937 (GRCm38)	missense	probably damaging	1.00
R4974:Aqr	UTSW	2	114,113,351 (GRCm38)	missense	probably damaging	1.00
R5050:Aqr	UTSW	2	114,170,025 (GRCm38)	critical splice donor site	probably null
R5050:Aqr	UTSW	2	114,112,609 (GRCm38)	nonsense	probably null
R5213:Aqr	UTSW	2	114,113,327 (GRCm38)	missense	probably damaging	1.00
R5263:Aqr	UTSW	2	114,116,578 (GRCm38)	missense	probably damaging	1.00
R5470:Aqr	UTSW	2	114,157,575 (GRCm38)	missense	probably damaging	1.00
R5488:Aqr	UTSW	2	114,133,073 (GRCm38)	missense	probably damaging	1.00
R5489:Aqr	UTSW	2	114,133,073 (GRCm38)	missense	probably damaging	1.00
R5567:Aqr	UTSW	2	114,148,970 (GRCm38)	missense	probably damaging	1.00
R5570:Aqr	UTSW	2	114,148,970 (GRCm38)	missense	probably damaging	1.00
R5641:Aqr	UTSW	2	114,149,034 (GRCm38)	missense	probably damaging	1.00
R5685:Aqr	UTSW	2	114,156,265 (GRCm38)	missense	possibly damaging	0.87
R5963:Aqr	UTSW	2	114,126,961 (GRCm38)	missense	probably damaging	1.00
R5992:Aqr	UTSW	2	114,143,049 (GRCm38)	nonsense	probably null
R6015:Aqr	UTSW	2	114,175,165 (GRCm38)	start codon destroyed	probably null	0.53
R6253:Aqr	UTSW	2	114,156,277 (GRCm38)	missense	possibly damaging	0.93
R6264:Aqr	UTSW	2	114,109,964 (GRCm38)	missense	probably damaging	1.00
R6773:Aqr	UTSW	2	114,148,996 (GRCm38)	missense	possibly damaging	0.64
R6877:Aqr	UTSW	2	114,116,571 (GRCm38)	nonsense	probably null
R7211:Aqr	UTSW	2	114,134,723 (GRCm38)	missense	probably benign	0.01
R7232:Aqr	UTSW	2	114,105,882 (GRCm38)	missense	probably damaging	1.00
R7308:Aqr	UTSW	2	114,104,062 (GRCm38)	missense	possibly damaging	0.86
R7396:Aqr	UTSW	2	114,119,946 (GRCm38)	nonsense	probably null
R7490:Aqr	UTSW	2	114,158,868 (GRCm38)	critical splice donor site	probably null
R7526:Aqr	UTSW	2	114,108,109 (GRCm38)	missense	probably damaging	0.96
R7629:Aqr	UTSW	2	114,114,593 (GRCm38)	missense	probably damaging	1.00
R7828:Aqr	UTSW	2	114,149,016 (GRCm38)	missense	probably damaging	1.00
R8037:Aqr	UTSW	2	114,161,680 (GRCm38)	missense	probably damaging	1.00
R8166:Aqr	UTSW	2	114,113,325 (GRCm38)	missense	possibly damaging	0.95
R8712:Aqr	UTSW	2	114,118,877 (GRCm38)	missense	probably damaging	1.00
R8904:Aqr	UTSW	2	114,136,993 (GRCm38)	missense	probably damaging	0.98
R9487:Aqr	UTSW	2	114,104,047 (GRCm38)	missense	probably benign	0.04
R9527:Aqr	UTSW	2	114,101,556 (GRCm38)	missense	probably benign	0.02
R9664:Aqr	UTSW	2	114,140,915 (GRCm38)	nonsense	probably null
Z1176:Aqr	UTSW	2	114,109,991 (GRCm38)	missense	probably benign	0.25
Z1176:Aqr	UTSW	2	114,108,122 (GRCm38)	missense	probably damaging	0.98

Posted On

2016-08-02